Raras
Buscar doenças, sintomas, genes...
Alteração do metabolismo e transporte de ferro
ORPHA:309842CID-10 · E83.1DOENÇA RARA

Disfemia, também chamada de gagueira, ou mais tecnicamente, Gagueira Persistente do Neurodesenvolvimento (GPNd), é um distúrbio da fluência da fala caracterizado por interrupções involuntárias no fluxo normal da fala, incluindo repetições de sons ou sílabas, prolongamentos de fonemas e bloqueios motores durante a produção verbal.

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Introdução

O que você precisa saber de cara

📋

Doença rara que afeta o metabolismo e transporte de ferro, levando a acúmulo circulante, neurodegeneração e disfunções motoras. Manifesta-se com ferritina elevada, acinesia, hiperplasia eritroide e alterações neurológicas.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8CID-10: E83.1
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
23 sintomas
🧠
Neurológico
15 sintomas
📏
Crescimento
11 sintomas
💪
Músculos
9 sintomas
🩸
Sangue
8 sintomas
❤️
Coração
7 sintomas

+ 80 sintomas em outras categorias

Características mais comuns

Aumento da concentração circulante de ferritina
Acinesia
Hiperplasia eritroide
Aumento do ferro sérico
Neurodegeneração
Discinesia orofacial
177sintomas
Sem dados (177)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 177 características clínicas mais associadas, ordenadas por frequência.

Aumento da concentração circulante de ferritinaIncreased circulating ferritin concentration
AcinesiaAkinesia
Hiperplasia eritroideErythroid hyperplasia
Aumento do ferro séricoIncreased serum iron
NeurodegeneraçãoNeurodegeneration

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025160 papers
Linha do tempo
2024Hoje · 2026🧪 2003Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

11 genes identificados com associação a esta condição.

SLC11A2Natural resistance-associated macrophage protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Proton-coupled metal ion symporter operating with a proton to metal ion stoichiometry of 1:1 (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Selectively transports various divalent metal cations, in decreasing affinity: Cd(2+) > Fe(2+) > Co(2+), Mn(2+) >> Zn(2+), Ni(2+), VO(2+) (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Essential for maintenance of iron homeostasis by modulating intestinal absorption of dietary Fe

LOCALIZAÇÃO

Early endosome membraneApical cell membraneLate endosome membraneLysosome membraneCell membraneExtracellular vesicle membraneMitochondrion outer membraneGolgi apparatus, trans-Golgi network membraneRecycling endosome membrane

VIAS BIOLÓGICAS (2)
Metal ion SLC transportersIron uptake and transport
MECANISMO DE DOENÇA

Anemia, hypochromic microcytic, with iron overload 1

A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
35.2 TPM
Pulmão
32.1 TPM
Glândula salivar
29.9 TPM
Skin Sun Exposed Lower leg
23.6 TPM
Brain Spinal cord cervical c-1
23.0 TPM
OUTRAS DOENÇAS (1)
microcytic anemia with liver iron overload
HGNC:10908UniProt:P49281
TFR2Transferrin receptor protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation

LOCALIZAÇÃO

Cell membraneCytoplasm

VIAS BIOLÓGICAS (1)
Transferrin endocytosis and recycling
MECANISMO DE DOENÇA

Hemochromatosis 3

A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
425.6 TPM
Cerebelo
15.2 TPM
Cérebro - Hemisfério cerebelar
13.5 TPM
Estômago
9.1 TPM
Córtex cerebral
9.0 TPM
OUTRAS DOENÇAS (2)
hemochromatosis type 3digenic hemochromatosis
HGNC:11762UniProt:Q9UP52
CPCeruloplasminDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Multifunctional blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane (PubMed:16150804). Copper ions provide a large number of enzymatic activites. Oxidizes highly toxic ferrous ions to the ferric state for further incorporation onto apo-transferrins, catalyzes Cu(+) oxidation and promotes the oxidation of biogenic amines such as norepin

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Aceruloplasminemia

An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.

OUTRAS DOENÇAS (1)
aceruloplasminemia
HGNC:2295UniProt:P00450
SLC40A1FerroportinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transports Fe(2+) from the inside of a cell to the outside of the cell, playing a key role for maintaining systemic iron homeostasis (PubMed:15692071, PubMed:22178646, PubMed:22682227, PubMed:24304836, PubMed:29237594, PubMed:29599243, PubMed:30247984). Transports iron from intestinal, splenic, hepatic cells, macrophages and erythrocytes into the blood to provide iron to other tissues (By similarity). Controls therefore dietary iron uptake, iron recycling by macrophages and erythrocytes, and rel

LOCALIZAÇÃO

Cell membraneBasolateral cell membrane

VIAS BIOLÓGICAS (3)
Metal ion SLC transportersIron uptake and transportDefective CP causes aceruloplasminemia (ACERULOP)
MECANISMO DE DOENÇA

Hemochromatosis 4

A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
390.2 TPM
Ovário
266.1 TPM
Baço
209.0 TPM
Cervix Endocervix
117.0 TPM
Cervix Ectocervix
115.9 TPM
OUTRAS DOENÇAS (1)
hemochromatosis type 4
HGNC:10909UniProt:Q9NP59
FTLFerritin light chainDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223)

LOCALIZAÇÃO

Cytoplasmic vesicle, autophagosomeCytoplasmAutolysosome

VIAS BIOLÓGICAS (2)
Scavenging by Class A ReceptorsNeutrophil degranulation
MECANISMO DE DOENÇA

Hyperferritinemia with or without cataract

An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
13154.6 TPM
Fibroblastos
12572.4 TPM
Pulmão
12131.1 TPM
Tecido adiposo
10012.1 TPM
Baço
9808.3 TPM
OUTRAS DOENÇAS (4)
neuroferritinopathyL-ferritin deficiencyhereditary hyperferritinemia with congenital cataractsobsolete genetic hyperferritinemia without iron overload
HGNC:3999UniProt:P02792
HFEHereditary hemochromatosis proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Transferrin endocytosis and recycling
MECANISMO DE DOENÇA

Hemochromatosis 1

A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
15.7 TPM
Glândula adrenal
8.8 TPM
Baço
7.8 TPM
Aorta
6.6 TPM
Cervix Endocervix
6.5 TPM
OUTRAS DOENÇAS (6)
hemochromatosis type 1sporadic porphyria cutanea tardafamilial porphyria cutanea tardaobsolete symptomatic form of hemochromatosis type 1
HGNC:4886UniProt:Q30201
BMP2Bone morphogenetic protein 2Candidate gene tested inAltamente restrito
FUNÇÃO

Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:24362451, PubMed:31019025). Induces cartilage and bone formation (PubMed:3201241). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:15064755, PubMed:17295905, PubMed:18436533). Once all three components are bound together in a complex at the

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (3)
Regulation of RUNX2 expression and activitySignaling by BMPTranscriptional regulation by RUNX2
MECANISMO DE DOENÇA

Brachydactyly A2

A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.

OUTRAS DOENÇAS (4)
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1brachydactyly type A220p12.3 microdeletion syndromehemochromatosis type 1
HGNC:1069UniProt:P12643
HAMPHepcidinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocyte

LOCALIZAÇÃO

Secreted

MECANISMO DE DOENÇA

Hemochromatosis 2B

A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
597.3 TPM
Coração - Átrio
133.2 TPM
Brain Spinal cord cervical c-1
16.9 TPM
Pâncreas
4.9 TPM
Hipotálamo
4.8 TPM
OUTRAS DOENÇAS (3)
hemochromatosis type 2Bdigenic hemochromatosishemochromatosis type 2
HGNC:15598UniProt:P81172
HJVHemojuvelinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Netrin-1 signaling
MECANISMO DE DOENÇA

Hemochromatosis 2A

A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.

VIAS REACTOME (1)
OUTRAS DOENÇAS (3)
hemochromatosis type 2Adigenic hemochromatosishemochromatosis type 2
HGNC:4887UniProt:Q6ZVN8
FTH1Ferritin heavy chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Also plays a role in delivery of iron to cells (By similarity). Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes is mediated by the cargo receptor NCOA4 for autophagic degradation and release of iron (PubM

LOCALIZAÇÃO

CytoplasmLysosomeCytoplasmic vesicle, autophagosome

VIAS BIOLÓGICAS (2)
Scavenging by Class A ReceptorsNeutrophil degranulation
MECANISMO DE DOENÇA

Hemochromatosis 5

A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
4592.9 TPM
Nervo tibial
3095.0 TPM
Sangue
3042.7 TPM
Pulmão
2479.3 TPM
Tecido adiposo
2441.4 TPM
OUTRAS DOENÇAS (2)
neurodegeneration with brain iron accumulation 9hemochromatosis type 5
HGNC:3976UniProt:P02794
TFSerotransferrinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use (Microbial

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Atransferrinemia

A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
2040.1 TPM
Fígado
1606.0 TPM
Substância negra
433.4 TPM
Hipocampo
264.0 TPM
Hipotálamo
174.7 TPM
OUTRAS DOENÇAS (1)
atransferrinemia
HGNC:11740UniProt:P02787

Variantes genéticas (ClinVar)

529 variantes patogênicas registradas no ClinVar.

🧬 SLC11A2: NM_000617.3(SLC11A2):c.675+5G>A ()
🧬 SLC11A2: NM_000617.3(SLC11A2):c.416G>A (p.Arg139His) ()
🧬 SLC11A2: NM_000617.3(SLC11A2):c.157G>T (p.Glu53Ter) ()
🧬 SLC11A2: NM_000617.3(SLC11A2):c.675+35A>G ()
🧬 SLC11A2: NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
2Fase 22
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Alteração do metabolismo e transporte de ferro

Centros de Referência SUS

21 centros habilitados pelo SUS para Alteração do metabolismo e transporte de ferro

Centros para Alteração do metabolismo e transporte de ferro

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto da Criança e do Adolescente (ICr-HCFMUSP)

Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695

Serviço de Referência

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.

Journal of hepatology2026 Apr

Pathogenic variants in the cellular iron exporter ferroportin (SLC40A1) cause hepatic and splenic iron overload. Low to normal transferrin saturation (TSAT) and iron accumulation in Kupffer cells with high splenic iron distinguish ferroportin disease (FD) from SLC40A1-related hemochromatosis (SLC40A1-HC), which are both caused by variants in SLC40A1. The aim of our study was to describe pathogenic mutations in SLC40A1, phenotypic variability in affected patients and compare outcomes with HFE-related hemochromatosis (HFE-HC). The international EASL non-HFE hemochromatosis patient registry prospectively collected clinical, radiological, biochemical, and genetic data for 95 patients with SLC40A1 variants from six centers. Additionally, 363 patients were identified by a systematic literature review. As a comparator, 603 patients diagnosed with HFE-HC were included. The FD phenotype presented in 65.5% of affected individuals. Patients with FD were younger at diagnosis and more often female than those with SLC40A1-HC. SLC40A1 variants were associated with higher hepatic and splenic iron concentrations compared to the HFE-HC group. Variability in phenotypic presentation was high among patients with SLC40A1 variants, and a genotype-to-phenotype correlation could only explain a small proportion of this variation. Variants that directly affect the metal binding site in ferroportin more likely presented with high TSAT. Patients with the SLC40A1-HC phenotype (TSAT >45%) had a higher risk of fibrosis. Life expectancy was similar between patients with SLC40A1 variants and matched patients with HFE-HC. Most individuals with SLC40A1 variants (73.2%) received regular phlebotomies, which were not associated with differences in life expectancy. Mutations in SLC40A1 cause a highly variable disease spectrum with hepatic and splenic iron overload. Fibrosis risk is higher in patients with elevated TSAT. Clinical management of individuals with SLC40A1 variants has largely been extrapolated from HFE-related hemochromatosis despite fundamental pathophysiological differences. Our study provides detailed phenotypic characterization that supports diagnosis and distinction of these rare iron overload disorders. Long-term follow-up shows preserved life expectancy, unaffected by phlebotomy, underscoring the need to critically assess phlebotomy on an individualized basis. Patients with SLC40A1-related hemochromatosis (transferrin saturation >45%) had a higher prevalence of chronic liver disease than those with ferroportin disease, suggesting that elevated transferrin saturation and hepatic iron drive disease progression, which can guide risk stratification and clinical decision making. Not applicable.

#2

The therapeutic potential of Piezo1 channel-mediated ferroptosis and its inhibitor.

Apoptosis : an international journal on programmed cell death2026 Mar 19

Piezo1 is a mechanically activated, non-selective cation channel characterized by its exquisite sensitivity to membrane tension and high permeability to calcium(Ca2+), enabling the conversion of mechanical stimuli into intracellular signaling events. Activation of Piezo1 leads to Ca2+ influx, which initiates iron metabolism reprogramming-including transferrin receptor 1(TfR1)-dependent iron uptake, divalent metal transporter 1(DMT1)-mediated iron transport, and Nuclear Receptor Coactivator 4(NCOA4)-regulated ferritinophagy-thereby promoting the accumulation of reactive oxygen species (ROS) and lipid peroxidation. Ultimately, these events culminate in ferroptosis by suppressing glutathione peroxidase 4 (GPX4) activity. The "mechanical force-Piezo1-Ca2+-iron/lipid metabolism" axis establishes mechanical stress as a pivotal upstream regulator of ferroptosis. This axis facilitates the functional integration of mechanotransduction into inflammatory mediator production, vascular and extracellular matrix(ECM) remodeling, and metabolic reprogramming. Furthermore, this signaling pathway exerts context-dependent pathogenic or protective effects across diverse pathological conditions, including musculoskeletal degeneration, ischemia-reperfusion injury, inflammatory bowel disease, neurovascular disorders, and cancer. This review provides a comprehensive overview of the molecular mechanisms and clinical evidence governing Piezo1-mediated ferroptosis. We summarize current pharmacological and genetic interventions for its inhibition-along with associated limitations such as selectivity and pharmacokinetic challenges-and explores interventions targeting the channel itself, Ca²⁺signaling, and downstream ferroptotic processes, including iron chelation, lipid peroxidation suppression, and preservation of the GPX4/coenzyme Q10 (CoQ10) axis. Furthermore, the potential for integrating these interventions with established therapeutic modalities is also discussed. A profound understanding of the druggability and context-dependent dynamics of the Piezo1-ferroptosis axis is expected to facilitate the discovery of novel therapeutic targets and combinatorial regimens for the precision management of mechanosensitive diseases.

#3

Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.

International journal of molecular sciences2026 Feb 27

Mitochondria are a key organelle in maintaining metabolic homeostasis. It not only generates most of the cell's energy through oxidative phosphorylation but also acts as a complex sensor of the redox state and oxygen in the cell. This review thoroughly analyzes the interactions among mitochondrial iron metabolism, mitochondrial reactive oxygen species (mtROS), and lipid peroxidation (LPO), the triggering factors of ferroptosis, an iron-dependent form of programmed cell death. We point out research showing that intrinsic mitochondrial machinery, such as iron-sulfur (Fe-S) cluster assembly and heme metabolism, is both an important cofactor and a master regulator. If these processes are disrupted, they can lead to ferroptosis. Unlike views that focus on the cytosol, we explain that the stability of Fe-S clusters in complexes such as aconitase and respiratory Complex I is crucial for preventing electron leakage and excessive mtROS formation. The Fenton reaction and its direct effect on cardiolipin (CL) oxidation in the inner membrane of mitochondria is a central event in cardiometabolic diseases. Its peroxidation and breakdown make the organelle very unstable and lead to cell death though Ca2+ overload and a significantly decreased reduced/oxidized glutathione ratio. Additionally, the functions of essential iron transporters and glutathione homeostasis are examined, and their dysregulation is correlated with ferroptosis-associated progression of cardiometabolic and neurodegenerative disorders, such as obesity and Alzheimer's disease. This review focused on the need to revisit the classic bioenergetic core of the mitochondria as a key player in the pathophysiology of metabolic and neurodegenerative diseases.

#4

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.

PLoS genetics2026 Mar

COG5, a subunit of the conserved oligomeric Golgi (COG) complex, plays a critical role in retrograde trafficking within the Golgi apparatus. Dysfunction of COG5 is associated with various human disorders, yet the underlying pathogenic mechanisms remain poorly understood. To investigate the mechanisms, we conducted proteomic analyses using COG5-deficient and rescue cell models, which revealed a potential link between COG5 dysfunction and mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Using COG5-deficient cell models and patient-derived cells harboring COG5 variants, we biochemically validated the involvement of COG5 in mitochondrial OXPHOS, particularly in the regulation of complex I content. These models also exhibited elevated cellular copper levels. Notably, the significant reduction in OXPHOS complexes could be rescued by either restoring COG5 expression or administering a copper chelator. We further demonstrated that excessive cellular copper disrupts the function of mitochondrial iron-sulfur clusters, potentially leading to complex I assembly defects. Additionally, we identified a patient with biallelic COG5 variants presenting with a distinct subtype of mitochondrial disease (Leigh syndrome), a phenotype not previously associated with COG5-related disorders. These findings provide novel mechanistic insights into the role of COG5, extending beyond its established function in Golgi-mediated glycosylation modifications. Our results underscore the importance of COG5 in mitochondrial function through a copper-dependent pathway, offering new perspectives on its contribution to cellular homeostasis and disease pathogenesis.

#5

Cell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder.

Cell2026 Feb 05

Mutations in lysosomal genes cause neurodegeneration and neuronopathic lysosomal storage disorders (LSDs). Despite their essential role in brain homeostasis, the cell-type-specific composition and function of lysosomes remain poorly understood. Here, we report a quantitative protein atlas of lysosomes from mouse neurons, astrocytes, oligodendrocytes, and microglia. We identify dozens of proteins not previously annotated as lysosomal and reveal the diversity of lysosomal composition across brain cell types. Notably, we identified SLC45A1, a gene whose mutations cause a monogenic neurological disease, as a neuron-specific lysosomal protein. Loss of SLC45A1 causes lysosomal dysfunction in vitro and in vivo. SLC45A1 functions as a lysosomal sugar transporter and impacts the stability of the V1 subunits of the vacuolar ATPase (V-ATPase). Consistently, SLC45A1 loss reduces lysosomal V1 subunits, elevates lysosomal pH, and disrupts iron homeostasis, causing mitochondrial dysfunction. Altogether, our work redefines SLC45A1-associated disease as an LSD and establishes a comprehensive map to study lysosome biology at cell-type resolution.

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📚 EuropePMCmostrando 199

2026

Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.

Journal of hepatology
2026

The therapeutic potential of Piezo1 channel-mediated ferroptosis and its inhibitor.

Apoptosis : an international journal on programmed cell death
2026

Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.

International journal of molecular sciences
2026

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.

PLoS genetics
2026

Antibody-based nanoparticles in Alzheimer's disease: Innovations in diagnosis and therapy.

Pathology, research and practice
2026

Effect of 6-Hydroxydopamine on Iron Metabolism in MO3.13 Oligodendrocytes.

Neurochemical research
2026

Placental iron transport under maternal stress: a missing link in foetal programming and mental health.

EBioMedicine
2026

Astrocyte-Targeted Nanotherapeutics Modulate Iron Homeostasis in Cerebral Amyloid Angiopathy by Restoring the Astrocytic Trafficking Hub Function.

ACS nano
2026

Iron Overload-Induced Ferroptosis Drives Placental Dysfunction in Preeclampsia.

Hypertension (Dallas, Tex. : 1979)
2026

Intestine-Specific Ferroportin Ablation Rescues from Systemic Iron Overload in Mice.

Nutrients
2026

Cell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder.

Cell
2026

[Effect of moxibustion at "Feishu" (BL13) and "Xinshu"(BL15) on myocardial fibrosis in chronic heart failure rats based on ferroptosis].

Zhen ci yan jiu = Acupuncture research
2025

Prokaryotic organelle mitochondria drive tumorigenesis: "the original sin".

Frontiers in oncology
2026

High glucose diet induces hepatic iron overload contributing to metabolic dysfunction.

iScience
2026

The adaptation strategy of Astragalus mongholicus shoots to the root Fe2+ deficiency and its strong stimulating effect on glucoliquiritin apioside accumulation.

Journal of plant physiology
2026

Effect of saponins from gynostemma pentaphyllum on iron metabolism in apolipoprotein E deficient mice.

European journal of medical research
2026

The Potential Role of Iron Homeostasis and Ferroptosis in Exercise Nutrition and Health.

Nutrients
2026

Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives.

Stem cell research & therapy
2026

Obesity impairs gut repair via AFABP-mediated iron overload in intestinal stem cells.

Nature metabolism
2025

Copper-Induced Cell Death in Renal Diseases: Molecular Mechanisms and Therapeutic Implications.

Drug design, development and therapy
2026

Angiotensin II-Induced Ferroptosis in Epithelial Cells Contributes to Kidney Injury via SP1-DPEP1-Mediated SLC3A2 Degradation.

Diabetes
2026

Iron Balance and Cardiovascular Health: The Double-Edged Role of Deficiency and Overload.

Cardiovascular toxicology
2026

Neuroprotective effects of ZiYin XiFeng formula against Parkinson's disease via Nrf2/SLC7A11/GPX4-mediated ferroptosis inhibition.

Journal of ethnopharmacology
2026

N-homocysteinylation of ferritin and associated changes in iron metabolism as potential drivers of vascular endothelial dysfunction in hyperhomocysteinemia.

Chemico-biological interactions
2025

Therapeutic Potentials of Phytochemicals in Pancreatitis: Targeting Calcium Signaling, Ferroptosis, microRNAs, and Inflammation with Drug-Likeness Evaluation.

Nutrients
2025

Gestational and Lactational Exposure to BPS Triggers Microglial Ferroptosis via the SLC7A11/GPX4 Antioxidant Axis and Induces Memory Impairment in Offspring Mice.

International journal of molecular sciences
2025

Iron metabolism disorder promotes postovulatory oocyte aging by inducing oxidative stress damage.

Life medicine
2025

Pathophysiological Role and Therapeutic Potential of Vitamin C in Metabolic Syndrome and Type 2 Diabetes Mellitus.

Metabolites
2025

The Non-Coding RNome Landscape in Erythropoiesis: Pathophysiological Implications.

Cells
2025

YTHDF1 transcriptionally activated by TCF4 suppresses osteoblast ferroptosis in titanium nanoparticle-induced osteolysis by accelerating GPX4 and SLC7A11 translation.

Journal of nanobiotechnology
2025

Beyond oxidative stress: Ferroptosis as a novel orchestrator in neurodegenerative disorders.

Frontiers in immunology
2025

Pharmacogenomic and Clinical Predictors of Deferasirox Response in Transfusion-Dependent Thalassemia Identified Using Whole-Genome Sequencing.

Clinical and translational science
2025

Slc22a17 governs postnatal neurogenesis by maintaining the iron homeostasis in hippocampus.

Nature communications
2026

Lipidic nanomedicines enhance Hinokitiol activity on human primary macrophages from Ferroportin disease patients.

International journal of pharmaceutics
2026

Evaluating the adenosine hypothesis of restless legs syndrome and its implications for current and future treatment strategies.

Expert review of neurotherapeutics
2025

Size-Controlled Mesoporous Silica Nanoparticles via Template Nanoarchitectonics from a Deferoxamine Derivative for Enhanced Blood-Brain Barrier Permeability and Neuroprotective Chelation Therapy.

ACS applied materials & interfaces
2025

Advancing Iron Therapy in Maternal Health: Evolving Strategies for Treating Iron Deficiency Anemia.

Obstetrical & gynecological survey
2025

TPX2 promotes ferroptosis in LPS-induced C28/I2 chondrocytes via NF-κB p65-mediated downregulation of GPX4 and SLC7A11.

Molecular biology reports
2026

Iron overload induces hepatic iron deposition and oxidative damage in freshwater fish Megalobrama amblycephala by inhibiting ferroportin 1 gene expression.

Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology
2026

Parkinsonism in people with virally suppressed HIV.

The lancet. HIV
2026

ZIP14 upregulation leads to ferroptosis and lysosomal dysfunction through intracellular iron overload and induces myocardial ischemia/reperfusion injury in mouse hearts.

Journal of molecular and cellular cardiology
2025

Dietary Iron Deficiency in Adult Mice Increases Brain Uptake of High-Affinity, Anti-Transferrin Receptor Antibody RI7217.

Journal of neurochemistry
2025

CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.

Acta neuropathologica communications
2025

Iron deficiency impact on exercise performance in patients with heart failure.

Journal of cardiovascular medicine (Hagerstown, Md.)
2025

Integrated transcriptomics and proteomics reveal ferroptosis induced by B[a]P and BPDE in mouse hippocampal neurons.

Scientific reports
2025

Activation of GSDME by all-trans-retinal increases sensitivity to photoreceptor ferroptosis.

International journal of biological sciences
2025

Melatonin inhibits liver ferroptosis in copper-laden rats: a potential therapy mechanism underlying Wilson's disease.

Free radical research
2025

Gut microbiome restoring biogenic ferritin mineral as an effective oral iron supplement for iron deficiency anemia.

Journal of nanobiotechnology
2025

[The role of dietary aluminum exposure in disturbances of micronutrient metabolism and expression of metal transporter genes].

Voprosy pitaniia
2026

HUWE1 in Skeletal Muscle Prevents Muscle Fatigue via Maintaining Iron and Calcium Homeostasis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Ferredoxins: master regulators in mitochondrial redox homeostasis and programmed cell death.

Redox biology
2025

PIEZO1 gain-of-function mutation drives cardiomyopathy by disrupting myocardial lipid homeostasis besides iron overload.

Science advances
2026

Excess aldosterone and cortisol promote myocardial iron deficiency: A potential pathway to cardiac injury.

The Journal of steroid biochemistry and molecular biology
2025

A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.

The Journal of biological chemistry
2025

The Role of Iron as a Micronutrient in Key Biological Functions, Health and Diseases in Human.

Nutrition bulletin
2025

Iron Deficiency in Drosophila melanogaster Glial Cells Impacts Behavior Through Altered Mitochondrial Dynamics.

Journal of neurochemistry
2026

KCNK3 coordinates adipocyte lipid storage and thermogenic shifts via AMPK, modulating a ferroptosis-permissive state.

Cellular signalling
2025

Single-cell transcriptional decoding of iron deficiency responses in maize root tips.

Plant cell reports
2026

Iron-Skin Axis: Exploring the Interplay between Iron Homeostasis and Skin Disorders.

The Journal of investigative dermatology
2026

Cadmium induces ferroptosis in B cells via ATP6V0A1-upregulated lysosomal ferritinophagy: insights from murine transcriptomics and human cellular models.

Free radical biology & medicine
2025

Gnetol targeting of TNFAIP3 promotes SLC7A11 ubiquitination and ferroptosis in osteoclasts to ameliorate osteoporosis.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.

Clinical genetics
2026

The Volatile Pentadecane From Bacillus Alleviates Plant Iron Deficiency Through Activating the Reduction-Based Fe Uptake System.

Plant biotechnology journal
2025

Carnosic acid alleviated periodontitis by inhibiting ferroptosis via the Nrf2/GPX4 pathway.

BMC oral health
2025

Early pathological changes in the liver and kidney of non-obese diabetic (NOD) mice: involvement of iron accumulation and ferroptosis.

Frontiers in endocrinology
2025

Multilayered epigenetic regulation of iron homeostasis in plants: From chromatin remodeling to genome engineering.

Plant physiology and biochemistry : PPB
2025

A structural deletion in the 3'UTR of SLC11A2 is associated with altered iron status: Evidence from two large Danish cohorts.

British journal of haematology
2025

Interplay between mTORC1 signaling and iron homeostasis in muscle atrophy.

Free radical biology & medicine
2025

[Mechanism of Tougu Xiaotong Capsules regulating Malat1 and mi R-16-5p ceRNA to alleviate "cholesterol-iron" metabolism disorder in osteoarthritis chondrocytes].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

Transcriptomic and proteomic profiling of Actinobacillus pleuropneumoniae responses to iron starvation.

Frontiers in cellular and infection microbiology
2025

Maternal iron deficiency alters the expression of glucose transporters in offspring.

Journal of developmental origins of health and disease
2025

Total favonoids of Desmodium Styracifolium relieve renal ischemia-reperfusion injury by suppressing ferroptosis through P53/SLC7A11/GPX4 signaling pathway.

Journal of bioenergetics and biomembranes
2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Annals of neurology
2025

ATF3 enhancement of CHAC1 expression: A pathway to neuronal ferroptosis in spinal cord injury.

Brain research bulletin
2025

Precision Phototherapy Enabled by Decoding Complex Microenvironments.

Accounts of chemical research
2025

Iron: More than Meets the Eye.

Nutrients
2025

Unraveling the Mystery of Hemoglobin in Hypoxia-Accelerated Neurodegenerative Diseases.

Biomolecules
2025

α-lipoic acid attenuates duodenal non-heme iron absorption via microRNA-mediated regulation of divalent metal transporter 1 in iron overloaded rats.

Molecular biology reports
2025

Indoor Dust Increases the Risk of Iron-Loading Anemia in Mice through Exogenous Iron-Induced Ineffective Erythropoiesis.

Environmental science & technology
2025

Cholesterol and 24S-OHC Induce Neuronal Apoptosis and Necroptosis, but Not Ferroptosis Despite Elevated Iron Levels.

Molecular neurobiology
2025

BDH2-driven lysosome-to-mitochondria iron transfer shapes ferroptosis vulnerability of the melanoma cell states.

Nature metabolism
2025

The role and mechanism of ERalpha(ERα) in atrazine-induced disorders of hepatic iron metabolism.

Ecotoxicology and environmental safety
2025

Intestinal hepcidin overexpression promotes iron deficiency anemia and counteracts iron overload via DMT1 downregulation.

Blood
2025

Molecular insights into the role of ferroptosis in cardiorenal cross-talk: Mechanisms and future directions.

Life sciences
2025

Iron Overload Accelerates Aging-Associated Kidney Injury in Mice: Implications for Iron Supplementation in the Elderly.

Nutrients
2025

Ferroptosis-Resistant Adipocytes Drive Keloid Pathogenesis via GPX4-Mediated Adipocyte-Mesenchymal Transition and Iron-Cystine Metabolic Communication.

International journal of biological sciences
2025

Unravelling the complex interplay between zinc, iron and their synergistic effect on LCPUFA metabolism in preeclampsia.

Prostaglandins, leukotrienes, and essential fatty acids
2025

SGLT2 inhibitor therapy and lower incidence of iron deficiency anaemia in patients with type 2 diabetes: A retrospective cohort study from Germany.

Diabetes, obesity & metabolism
2025

Exploring the effects of maternal anemia on neonatal neurodevelopment: a systematic review and meta-analysis.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2025

Deep Gray Matter Iron Deposition in NMOSD and MOGAD: A Comparative Study with MS.

Academic radiology
2025

A novel application of LC-MS/MS accurately quantifies the labile redox pools of cellular coenzymes Q9 and Q10.

Free radical biology & medicine
2025

Cadmium Inhibits Proliferation of Human Bronchial Epithelial BEAS-2B Cells Through Inducing Ferroptosis via Targeted Regulation of the Nrf2/SLC7A11/GPX4 Pathway.

International journal of molecular sciences
2025

Baicalein attenuates metabolic dysfunction-associated steatohepatitis by regulating macrophage ferroptosis through nuclear factor (erythroid-derived 2)-like 2 pathway.

Free radical biology & medicine
2026

Influence of plant-derived bioactive compounds on iron metabolism: mechanistic insights with translational relevance.

Critical reviews in food science and nutrition
2025

TRPM8 modulation alters uptake of Transferrin-mediated Fe3+, mitochondrial Fe2+ and intracellular Ca2+-levels in microglia.

Neurochemistry international
2025

CB2 and TRPV1 receptors in inflammatory state of macrophages from sickle cell anemia pediatric/young adults.

Scientific reports
2025

Effect of Self-Assembled Polydopamine Nanoparticles on Ferroptosis in an MPTP-Induced Parkinson's Disease Mice Model.

ACS applied bio materials
2025

The cytochrome oxidase defect in ISC-depleted yeast is caused by impaired iron-sulfur cluster maturation of the mitoribosome assembly factor Rsm22.

FEBS letters
2025

An Analysis of AMPK and Ferroptosis in Cancer: A Potential Regulatory Axis.

Frontiers in bioscience (Landmark edition)
2025

Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.

Journal of medical case reports
2025

The presence of a H. pylori infection blunted the upregulation of iron-related duodenal proteins in response to anemia.

The Journal of nutritional biochemistry
2025

Dimethyl malonate preserves brain and neurobehavioral phenotype following neonatal hypoxia-ischemia by inhibiting FTH1-mediated ferritinophagy.

Redox biology
2025

3D printing combined with pH-induced 4D printed iron(III)-oxidized starch gels for controlled iron delivery and enhanced iron supplementation.

Carbohydrate polymers
2025

SLC39A13 Regulates Heart Function via Mitochondrial Iron Homeostasis Maintenance.

Circulation research
2025

Iron-Immune Crosstalk at the Maternal-Fetal Interface: Emerging Mechanisms in the Pathogenesis of Preeclampsia.

Antioxidants (Basel, Switzerland)
2025

TORC2 and MAPK signaling pathways regulate mitochondrial degradation induced by iron starvation in Schizosaccharomyces pombe.

The Journal of biological chemistry
2025

PIEZO1-GPX4 Axis Mediates Mechanical Stress-Induced Vertebral Growth Plate Dysplasia via Ferroptosis Activation.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Nanozyme-synbiotics to improve iron-deficiency anemia.

Colloids and surfaces. B, Biointerfaces
2025

Air pollution decreases postsynaptic PSD-95 and NMDA receptor subunits in synaptosomes from mouse cerebral cortex.

Environmental pollution (Barking, Essex : 1987)
2025

Prevalence of Restless Leg Syndrome and Its Association With Iron Deficiency in Patients With Chronic Kidney Disease: A Cross-Sectional Observational Study.

Cureus
2025

Atp7a deficiency induces axonal and myelin developmental defects in zebrafish via ferroptosis.

Neurobiology of disease
2025

Fe-deficiency-induced chlorosis 1 is essential for chloroplast iron transport and homeostasis under continuous light conditions in Arabidopsis.

Cell reports
2025

SGLT2 inhibitors and their influence on iron metabolism in the context of inflammation.

British journal of pharmacology
2025

The Relationship Between Non-Transferrin-Bound Iron (NTBI), Labile Plasma Iron (LPI), and Iron Toxicity.

International journal of molecular sciences
2025

Dietary Heme Iron: A Review of Efficacy, Safety and Tolerability.

Nutrients
2025

Vitamin K2 reprograms the multi-organ transcriptional landscape in mice with high-fat diet-induced obesity.

Food & function
2025

PIEZO2 is the underlying mediator for precise magnetic stimulation of PVN to improve autism-like behavior in mice.

Journal of nanobiotechnology
2025

Current Landscape of Hepcidin Therapeutics.

Advances in experimental medicine and biology
2025

Iron Metabolism in Cardiovascular Disease.

Advances in experimental medicine and biology
2025

Iron, Hepcidin, and Immunity.

Advances in experimental medicine and biology
2025

Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.

Advances in experimental medicine and biology
2025

Systemic Iron Metabolism.

Advances in experimental medicine and biology
2025

Rust and redemption: iron-sulfur clusters and oxygen in human disease and health.

Metallomics : integrated biometal science
2025

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Orphanet journal of rare diseases
2025

Herbacetin alleviates ferroptosis via Hif-1α/SLC7A11/GPX4 axis in traumatic brain injury.

Free radical biology & medicine
2025

Mechanisms of micro- and nanoplastics on blood-brain barrier crossing and neurotoxicity: Current evidence and future perspectives.

Neurotoxicology
2025

Molecular pathologies and therapies for Pelizaeus-Merzbacher disease.

Brain & development
2025

Implementation of guidelines for intravenous iron therapy in heart failure patients.

ESC heart failure
2025

Update of the sideroflexin (SLC56) gene family.

Human genomics
2025

Paeoniflorin mitigates iron overload-induced osteoarthritis by suppressing chondrocyte ferroptosis via the p53/SLC7A11/GPX4 pathway.

International immunopharmacology
2025

[Hereditary haemochromatosis due to hepcidin resistance].

Ugeskrift for laeger
2025

[A case of type 4A familial hereditary hemochromatosis].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2025

Iron retention coupled with trade-offs in localized symbiotic effects confers tolerance to combined iron deficiency and drought in soybean.

Journal of experimental botany
2025

Ferric-Chelate Reductase FRO3 Is Involved in Iron Homeostasis in Table Grape and Enhanced Plant Tolerance to Iron-Deficient Conditions.

International journal of molecular sciences
2025

3D-QSAR based computational screening of potent ligands against L-type calcium channel (LTCC) protein structure for iron overload in β-thalassemia.

Computers in biology and medicine
2025

Quercetin, as a Nutritional Supplement, Protects against Iron Overload-Induced Testicular Dysfunction via Inhibiting Ferroptosis.

Journal of agricultural and food chemistry
2025

Iron homeostasis and health: understanding its role beyond blood health - a narrative review.

Annals of medicine and surgery (2012)
2025

Development of rat and mouse models of heme-iron absorption.

JCI insight
2025

Clinical Outcomes of Intravenous Iron Therapy in Systolic Heart Failure Patients Receiving SGLT2 Inhibitors.

The American journal of cardiology
2025

Calcium-iron crosstalk in epileptogenesis: Unraveling mechanisms and therapeutic opportunities.

Neurobiology of disease
2025

Iron metabolism disorder and artesunate inhibiting tumor growth by inducing ferroptosis in Lymphangioleiomyomatosis.

Respiratory research
2025

Interfering with AQP1 alleviates ferroptosis, improves mitochondrial function and energy metabolic disorder in hypoxia/reoxygenation-induced H9c2 cardiomyocytes via Wnt/β-catenin pathway.

Microvascular research
2025

Iron Replacement Attenuates Hypoxic Pulmonary Hypertension by Remodeling Energy Metabolism via Regulating the HIF2α/Mitochondrial Complex I, III/ROS Axis.

Biomolecules
2025

Glucose deprivation-restoration induces labile iron overload and ferroptosis in renal tubules through V-ATPase-mTOR axis-mediated ferritinophagy and iron release by TPC2.

Free radical biology & medicine
2025

A Salmonella subset exploits erythrophagocytosis to subvert SLC11A1-imposed iron deprivation.

Cell host & microbe
2025

Abnormal Brain Iron Metabolism is Linked to Altered Neural Function in Isolated Laryngeal Dystonia.

Movement disorders : official journal of the Movement Disorder Society
2025

Cisd1 synergizes with Cisd2 to modulate protein processing by maintaining mitochondrial and ER homeostasis.

Aging
2025

Iron Metabolism and the Role of Iron Therapy in Pediatric Restless Leg Syndrome.

Sleep medicine clinics
2025

Hypoferremic Response to Chronic Inflammation Is Controlled via the Hemojuvelin/Hepcidin/Ferroportin Axis and Does Not Involve Hepcidin-Independent Regulation of Fpn mRNA.

American journal of hematology
2025

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

International journal of molecular sciences
2025

Cadmium exposure and its role in joint disease: A brief review of experimental and population-based evidence.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2025

Unraveling the Serum Protein Landscape in Celiac Disease: Current Evidence and Future Directions.

Immunity, inflammation and disease
2025

Iron Deficiency Anemia Linked to Severe Pediculosis Capitis in a 12-Year-Old Boy.

The American journal of case reports
2025

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.

Journal of inherited metabolic disease
2025

miR-4478 Promotes Ferroptosis of Nucleus Pulposus Cells through Targeting SLC7A11 to Induce IVDD.

Folia biologica
2025

Astragenol alleviates neuroinflammation and improves Parkinson's symptoms through amino acid metabolism pathway and inhibition of ferroptosis.

Journal of ethnopharmacology
2025

Glutathione Decreases Parkinsonism-Induced Ferroptosis and Oxidative Stress Through the Inhibition of the TRPM2 Channel in Neuronal Cells.

Pharmacology research & perspectives
2025

The roles and mechanisms of CDGSH iron-sulfur domain 1 in kainic acid-induced mitochondrial iron overload, dysfunction and neuronal damage.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2025

Delayed Upper Gastrointestinal Motility in Mice Treated with Oral Iron Tablets.

Biological & pharmaceutical bulletin
2025

Gentiopicroside Attenuated Dopaminergic Neurodegeneration via Inhibiting Neuroinflammatory Responses and Ferroptosis in Experimental Models of Parkinson's Disease.

Basic & clinical pharmacology & toxicology
2025

PTPN2 Regulates Iron Handling Protein Expression in Inflammatory Bowel Disease Patients and Prevents Iron Deficiency in Mice.

International journal of molecular sciences
2025

Evidence of Oxytosis/Ferroptosis in Niemann-Pick Disease Type C.

International journal of molecular sciences
2025

Reactive astrocyte-derived exosomes enhance intracranial lymphatic drainage in mice after intracranial hemorrhage.

Fluids and barriers of the CNS
2025

Genome-wide identification and analysis of the apple H+-ATPase gene family and its expression against iron deficiency stress.

BMC plant biology
2025

Critical Importance of Iron Saturation in Lactoferrin: Effects on Biological Activity, Nutritional Functions, and Applications.

Journal of agricultural and food chemistry
2025

Targeting mitochondria-regulated ferroptosis: A new frontier in Parkinson's disease therapy.

Neuropharmacology
2025

A computational study of the fold and stability of cytochrome c with implications for disease.

International journal of biological macromolecules
2025

Abnormal iron metabolism in the zona incerta in Parkinson's disease mice.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Women with Symptoms Suggestive of ADHD Are More Likely to Report Symptoms of Iron Deficiency and Heavy Menstrual Bleeding.

Nutrients
2025

Characterization of the Priestia megaterium ZS-3 siderophore and studies on its growth-promoting effects.

BMC microbiology
2024

Hypermagnesemia with Dystonia Type 2: Case Report of a New SLC30A10 Variant.

Journal of pharmacy & bioallied sciences
2025

The anti-Alzheimer's disease effects of ganoderic acid A by inhibiting ferroptosis-lipid peroxidation via activation of the NRF2/SLC7A11/GPX4 signaling pathway.

Chemico-biological interactions
2025

Eupatilin mitigates ICH-induced brain injury via SOX2/SLC7A11 regulation of ferroptosis.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Anemia Management in the Cardiorenal Patient: A Nephrological Perspective.

Journal of the American Heart Association
2025

Studies of Slc30a10 Deficiency in Mice Reveal That Intestinal Iron Transporters Dmt1 and Ferroportin Transport Manganese.

Cellular and molecular gastroenterology and hepatology
2025

Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.

The Journal of pharmacology and experimental therapeutics
2025

Iron Overload-Related Oxidative Stress Leads to Hyperphosphorylation and Altered Anion Exchanger 1 (Band 3) Function in Erythrocytes from Subjects with β-Thalassemia Minor.

International journal of molecular sciences
2025

Transcriptome and metabolome analysis reveal the mechanisms of iron absorption differences in apple rootstocks under alkaline condition.

Physiologia plantarum
2025

Iron-Deficiency Anemia Elevates Risk of Diabetic Kidney Disease in Type 2 Diabetes Mellitus.

Journal of diabetes
2025

Involvement of iron ions in 6-hydroxydopamine-induced disruption of intracellular copper metabolism.

Free radical research
2025

Neonatal sevoflurane exposures inhibits DHHC5-mediated palmitoylation of TfR1 in oligodendrocytes, leading to hypomyelination and neurological impairments.

Journal of advanced research
2025

Key role of the CSE/transsulfuration pathway in macrophage phenotypic change under iron overload.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2025

Neurochemical alterations in the cerebellum of Friedreich's Ataxia mouse models.

Experimental neurology
2025

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.

Molecular medicine (Cambridge, Mass.)
2025

Mechanisms Underlying Iron Deficiency-Induced Cardiac Disorders: Implications for Treatment.

Discovery medicine
2025

m6A Demethylase FTO-Mediated Upregulation of BAP1 Induces Neuronal Ferroptosis via the p53/SLC7A11 Axis in the MPP+/MPTP-Induced Parkinson's Disease Model.

ACS chemical neuroscience
2025

Mechanism and regulation of iron absorption throughout the life cycle.

Journal of advanced research
2025

Peripheral blood immune cells from individuals with Parkinson's disease or inflammatory bowel disease share deficits in iron storage and transport that are modulated by non-steroidal anti-inflammatory drugs.

Neurobiology of disease
2025

The Roles of DMT1 in Inflammatory and Degenerative Diseases.

Molecular neurobiology
2024

The Neural Palette of Heme: Altered Heme Homeostasis Underlies Defective Neurotransmission, Increased Oxidative Stress, and Disease Pathogenesis.

Antioxidants (Basel, Switzerland)
2025

Cell-free hemoglobin released from hemolysis induces programmed cell death through iron overload and oxidative stress in grass carp (Ctenopharyngodon idella).

Fish & shellfish immunology
2025

Iron in the migraine brain.

Histology and histopathology
2025

Neurovascular unit impairment in iron deficiency anemia.

Neuroscience
2025

Iron deficiency promotes intra-leaflet hemorrhage-induced aortic valve calcification: an experimental study.

International journal of surgery (London, England)
2025

PRKAA2 Promotes Tumor Growth and Inhibits Ferroptosis through SLC7A11/GSH/GPX4 Pathway in Non-Small Cell Lung Cancer.

Biotechnology and applied biochemistry
2024

Therapeutic potential of 5-aminolevulinic acid in metabolic disorders: Current insights and future directions.

iScience
2024

The Role of Trace Elements in COPD: Pathogenetic Mechanisms and Therapeutic Potential of Zinc, Iron, Magnesium, Selenium, Manganese, Copper, and Calcium.

Nutrients
2024

Hepcidin as a therapeutic target in iron overload.

Expert opinion on therapeutic targets
2025

Macrophage P2Y12 regulates iron transport and its inhibition protects against atherosclerosis.

Journal of advanced research

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.
    Journal of hepatology· 2026· PMID 41855270mais citado
  2. The therapeutic potential of Piezo1 channel-mediated ferroptosis and its inhibitor.
    Apoptosis : an international journal on programmed cell death· 2026· PMID 41854751mais citado
  3. Mitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
    International journal of molecular sciences· 2026· PMID 41828457mais citado
  4. COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
    PLoS genetics· 2026· PMID 41824529mais citado
  5. Cell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder.
    Cell· 2026· PMID 41576950mais citado
  6. Placental iron transport under maternal stress: a missing link in foetal programming and mental health.
    EBioMedicine· 2026· PMID 41690249recente
  7. Therapeutic Potentials of Phytochemicals in Pancreatitis: Targeting Calcium Signaling, Ferroptosis, microRNAs, and Inflammation with Drug-Likeness Evaluation.
    Nutrients· 2025· PMID 41470786recente
  8. CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.
    Acta Neuropathol Commun· 2025· PMID 41299767recente
  9. A homology-based 3D model and structure-function studies reveal key elements for divalent metal ion transporter ZIP8 (SLC39A8) function.
    J Biol Chem· 2025· PMID 41232668recente
  10. Fe-deficiency-induced chlorosis 1 is essential for chloroplast iron transport and homeostasis under continuous light conditions in Arabidopsis.
    Cell Rep· 2025· PMID 40650908recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:309842(Orphanet)
  2. MONDO:0017763(MONDO)
  3. GARD:21355(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q6072985(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Alteração do metabolismo e transporte de ferro
Compêndio · Raras BR

Alteração do metabolismo e transporte de ferro

ORPHA:309842 · MONDO:0017763
CID-10
E83.1 · Doença do metabolismo do ferro
MedGen
UMLS
C0012715
Wikidata
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