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Hemocromatose relacionada com HJV ou HAMP
ORPHA:79230CID-10 · E83.1CID-11 · 5C64.10PCDT · SUSDOENÇA RARA

A hemocromatose tipo 2 (juvenil) é a forma de início precoce e mais grave de um grupo de doenças raras e genéticas conhecido como hemocromatose hereditária (HH). Essas doenças são caracterizadas pelo acúmulo excessivo de ferro nos tecidos do corpo devido a causas genéticas.

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Introdução

O que você precisa saber de cara

📋

A hemocromatose tipo 2 (juvenil) é a forma de início precoce e mais grave de um grupo de doenças raras e genéticas conhecido como hemocromatose hereditária (HH). Essas doenças são caracterizadas pelo acúmulo excessivo de ferro nos tecidos do corpo devido a causas genéticas.

Publicações científicas
1 artigos
Último publicado: 2007 Dec

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
74
pacientes catalogados
Início
Adolescent
+ adult, childhood
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponívelCentros em: ES, PR, SC, RS, PA +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

📏
Crescimento
7 sintomas
🫃
Digestivo
6 sintomas
❤️
Coração
4 sintomas
🧬
Pele e cabelo
2 sintomas
💪
Músculos
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Aumento da concentração circulante de ferritina
Muito frequente (99-80%)
90%prev.
Anormalidade da homeostase do ferro
Muito frequente (99-80%)
90%prev.
Saturação elevada da transferrina
Muito frequente (99-80%)
90%prev.
Fibrose hepática congênita
Muito frequente (99-80%)
55%prev.
Hiperpigmentação generalizada
Frequente (79-30%)
55%prev.
Fraqueza muscular
Frequente (79-30%)
31sintomas
Muito frequente (4)
Frequente (9)
Ocasional (2)
Sem dados (16)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.

Aumento da concentração circulante de ferritinaIncreased circulating ferritin concentration
Muito frequente (99-80%)90%
Anormalidade da homeostase do ferroAbnormality of iron homeostasis
Muito frequente (99-80%)90%
Saturação elevada da transferrinaElevated transferrin saturation
Muito frequente (99-80%)90%
Fibrose hepática congênitaCongenital hepatic fibrosis
Muito frequente (99-80%)90%
Hiperpigmentação generalizadaGeneralized hyperpigmentation
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1PubMed
Últimos 10 anos200publicações
Pico201834 papers
Linha do tempo
2026Hoje · 2026📈 2018Ano 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

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

HJVHemojuvelinDisease-causing germline mutation(s) (loss of function) 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
HAMPHepcidinDisease-causing germline mutation(s) (loss of function) 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

Variantes genéticas (ClinVar)

254 variantes patogênicas registradas no ClinVar.

🧬 HAMP: NM_021175.4(HAMP):c.185A>G (p.His62Arg) ()
🧬 HAMP: GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1 ()
🧬 HAMP: GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 ()
🧬 HAMP: GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 ()
🧬 HAMP: Single allele ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
3Fase 31
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Hemocromatose relacionada com HJV ou HAMP

Centros de Referência SUS

21 centros habilitados pelo SUS para Hemocromatose relacionada com HJV ou HAMP

Centros para Hemocromatose relacionada com HJV ou HAMP

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Back to basics: Bile acids in fat absorption.

Cell metabolism2026 Feb 03

Using innovative methods to modify bile acid pool size and composition in mice, Chan et al. delineate that the "classical" function of bile acids, the body's endogenous soaps, in mediating intestinal fat absorption involves a delicate interplay between bile acid and fatty acid structures, with important metabolic implications.

#2

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Orphanet journal of rare diseases2026 Mar 09
#3

Linear Growth in Children With Cystic Fibrosis in the Netherlands Born Between 1997-2004; Results of a Multicenter Cohort Analysis.

Pediatric pulmonology2026 Feb

Short stature has been associated with reduced life expectancy in people with Cystic Fibrosis (pwCF). We aimed to evaluate linear growth and final height in a Dutch cohort of children with CF, diagnosed in early childhood and now aged ≥ 18 years and identify risk factors for impaired linear growth. A multicenter longitudinal retrospective cohort study was performed in pwCF born between 1997 and 2004, before implementation of newborn screening (NBS). Anthropometric measurements and CF-related risk factors for poor growth (pulmonary infections, malnutrition, CF-Related Diabetes [CFRD], CF-related liver disease [CFLD]) were obtained annually from ages 0.5 to 10 years and biannually from ages 10 to 18. Measurements were converted to Height-For-Age-For-Target-Height (HFA-TH) Z-scores. Differences in HFA-TH Z-scores between pwCF and healthy standards, and risk factors associated with linear growth were analyzed. A total of 128 pwCF (60 males) were included. Most patients did not receive modulator-therapy during pubertal growth. In boys, mean HFA-TH Z-scores at age 18 years (HFA-TH18) were lower in comparison to healthy standards (-0.66 [0.96], p < 0.001). In girls at age 18, a normal mean HFA-TH z-score was found (-0.18 [0.78]). Development of CFRD and a greater change in BMI Z-scores between 0.5 and 6 years of age (ΔBMI0.5-6) were associated with lower HFA-TH18 Z-scores in boys. In both sexes, pulmonary function and BMI Z-scores were positively associated with linear growth. Boys with CF may have impaired final height, especially those with CFRD or a ΔBMI0.5-6. Glucose metabolism and nutritional status should be monitored closely in pwCF, as these factors may contribute to impaired linear growth.

#4

TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.

Journal of molecular medicine (Berlin, Germany)2026 Feb 12

Liver iron overload, a contributing factor to liver damage, is frequently observed in advanced alcoholic liver disease (ALD). Genetic factors may influence the progression of ALD. This study explored the involvement of hemochromatosis-related genes in liver iron deposition among ALD patients. Clinical data from 97 ALD patients revealed that those with liver iron overload had worse liver function and prognosis. Among 43 patients who underwent exon sequencing of the HFE, HJV, HAMP, TFR2, and SLC40A1 genes, the TFR2 p.A75V mutation emerged as a potential contributor to iron overload. To further investigate, we developed a novel mouse model of ALD with liver iron overload. Administration of recombinant AAV carrying the wild-type TFR2 gene significantly reduced iron deposition in hepatocytes, whereas the TFR2 p.A75V mutation did not alleviate hepatic iron overload. This mutation impairs HAMP induction by disrupting the ERK pathway, likely due to abnormal cytoplasmic localization of the TFR2 protein. In conclusion, the TFR2 p.A75V mutation in ALD may decrease hepatocyte sensitivity to iron stimulation by inhibiting HAMP expression via the ERK pathway, thereby exacerbating iron overload both in vivo and in vitro. KEY MESSAGES: The study identifies the TFR2 p.A75V mutation as a key genetic factor worsening liver iron overload in ALD patients, linked to poorer liver function and prognosis. A novel ALD mouse model with iron overload demonstrates that the TFR2 p.A75V mutation impairs iron regulation. TFR2 p.A75V mutant disturbs the ERK pathway in HAMP induction and causes abnormal cytoplasmic localization of the TFR2 Protein.

#5

Maternal Adiposity and DNA Methylation of TfR2 and HJV Genes in Early Pregnancy: Mediating Role of Inflammation and Consequences for Iron Status.

The Journal of nutrition2026 Feb 04

Growing evidence shows that obesity influences iron status during pregnancy; however, it is unknown whether maternal obesity is associated with epigenetic changes in transferrin receptor 2 (TfR2) and hemojuvelin (HJV). This study aimed to explore the association between adiposity and DNA methylation in TfR2 and HJV in early pregnancy and the mediating effect of inflammation on this association. This cross-sectional study used data from a double-blind randomized controlled trial in singleton pregnant women with normal weight (BMI: 18.5-24.9 kg/m2) and obesity (BMI: ≥30.0 kg/m2). Maternal BMI, fat mass, visceral fat, iron/inflammatory markers and DNA methylation of TfR2 and HJV were measured at 12 gestational weeks. Two primer sets were designed [TfR2 zone 1 and 2 (TfR2z1, TfR2z2); HJV zone 1 and 2 (HJVz1, HJVz2)]. An inflammation score was calculated using proinflammatory cytokines. A total of 65 pregnant women were included, 34 with normal weight, and 31 with obesity. Compared to women of normal-weight, those with obesity showed: lower percentage DNA methylationat TfR2z1 cytosine-phosphate-guanine (CpG) sites 5, 6, 8-10 and the mean TfR2z1 methylation (mean TfR2z1 methylation 5.80% vs 6.92%, P = 0.004); lower percentage of DNA methylation at TfR2z2 CpG sites 5 and 6 (12.5% vs 14.7%, P = 0.035; 17.8% vs 20.1%, P = 0.031); higher percentage DNA methylation at HJVz1 CpG site 3 (HJVz1 CpG 3 45.3% vs 43.4%, P = 0.010) and HJVz2 CpG site 2 and the mean HJVz2 methylation (HJVz2 CpG 2 43.2% vs 37.9%, P < 0.001, mean HJVz2 methylation 65.9% vs 61.6%, P < 0.001). Adjusting for covariates, DNA methylation at TfR2z1 was negatively and HJVz2 positively associated with all adiposity measures (TfR2z1, BMI β = -0.288, P = 0.030; HJVz2 β = 0.459, P < 0.001). Inflammation showed a mediating effect on the association between all adiposity measures and DNA methylation at HJVz1 (P = 0.019). Maternal adiposity is associated with epigenetic alterations in the iron metabolism genes TfR2 and HJV in early pregnancy, with modifications in HJV appearing to be mediated by inflammatory pathways.

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Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

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Linear Growth in Children With Cystic Fibrosis in the Netherlands Born Between 1997-2004; Results of a Multicenter Cohort Analysis.

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TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.

Journal of molecular medicine (Berlin, Germany)
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Maternal Adiposity and DNA Methylation of TfR2 and HJV Genes in Early Pregnancy: Mediating Role of Inflammation and Consequences for Iron Status.

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Back to basics: Bile acids in fat absorption.

Cell metabolism
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Computational analysis and molecular dynamics insights into deleterious SNPs of the HFE gene.

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Molecular Pathogenesis of Joint Hypermobility: The Role of Intergenic Interactions.

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Hereditary Hemochromatosis Type 2A Presenting With Hypogonadism, Diabetes, and Osteoporosis in a Young Woman.

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Assessment of HJV and SMN1 gene expression levels in infertile men: laboratory and bioinformatic approaches.

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The Loss of HJV Aggravates Muscle Atrophy by Promoting the Activation of the TβRII/Smad3 Pathway.

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Antibiofilm Activities of Tritrpticin Analogs Against Pathogenic Pseudomonas aeruginosa PA01 Strains.

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[A case of type 2A juvenile hereditary hemochromatosis].

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Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British journal of haematology
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[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].

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Bone phenotyping of murine hemochromatosis models with deficiencies of Hjv, Alk2, or Alk3: The influence of sex and the bone compartment.

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Journal of clinical pharmacology
2024

HJV mutations causing hemochromatosis: variable phenotypic expression in a pair of twins.

Haematologica
2024

A Review of New Concepts in Iron Overload.

Gastroenterology &amp; hepatology
2024

The liver and muscle secreted HFE2-protein maintains central nervous system blood vessel integrity.

Nature communications
2024

Times Are Changing: Why Quantitative Myocardial Perfusion Is to Be Preferred Over Qualitative Myocardial Perfusion.

Circulation. Cardiovascular imaging
2024

Transmembrane serine protease 6, a novel target for inhibition of neuronal tumor growth.

Cell death &amp; disease
2023

Circulating microRNAs and hepcidin as predictors of iron homeostasis and anemia among school children: a biochemical and cross-sectional survey analysis.

European journal of medical research
2024

Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group.

British journal of haematology
2023

Catastrophic health expenditure during the COVID-19 pandemic in five countries: a time-series analysis.

The Lancet. Global health
2023

Characterization of fifteen key genes involved in iron metabolism and their responses to dietary iron sources in yellow catfish Pelteobagrus fulvidraco.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2024

Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures.

Molecular genetics and metabolism
2024

Bioinformatics Analysis of the Genetic and Epigenetic Alterations of Bone Morphogenetic Protein Receptors in Metastatic Breast Cancer.

Biochemical genetics
2023

Added Predictive Value of Female-Specific Factors and Psychosocial Factors for the Risk of Stroke in Women Under 50.

Neurology
2023

Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis.

JHEP reports : innovation in hepatology
2023

Primary Non-HFE Hemochromatosis: A Review.

Journal of clinical and translational hepatology
2023

Mass Balance and Absorption, Distribution, Metabolism, and Excretion Properties of Balcinrenone following Oral Administration in Combination with Intravenous Microtracer in Healthy Subjects.

Drug metabolism and disposition: the biological fate of chemicals
2023

Hereditary hemochromatosis: An update vision of the laboratory diagnosis.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2023

Whole blood transfusion in the treatment of acute hemorrhage, a systematic review and meta-analysis.

The journal of trauma and acute care surgery
2023

Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2023

Cardiac Hamp mRNA Is Predominantly Expressed in the Right Atrium and Does Not Respond to Iron.

International journal of molecular sciences
2023

A Successful Living Donor Liver Transplantation Using Hepatic Iron Deposition Graft Suspected by Magnetic Resonance Imaging.

Case reports in transplantation
2023

Managing the Dual Nature of Iron to Preserve Health.

International journal of molecular sciences
2023

An aberration correction approach for single and dual aperture ultrasound imaging of the abdomen.

Ultrasonics
2023

The effectiveness of Foley catheter balloon tamponade versus expanding sponges and hemostatic granules for catastrophic penetrating groin hemorrhage with small skin defect: A comparative study in a live tissue porcine model with evaluation of a concise training program.

The journal of trauma and acute care surgery
2023

Evaluating associations between level of trauma care and outcomes of patients with specific severe injuries: A systematic review and meta-analysis.

The journal of trauma and acute care surgery
2023

Longitudinal relationship between albuminuria in infancy and childhood.

Pediatric nephrology (Berlin, Germany)
2023

Genetic Iron Overload Hampers Development of Cutaneous Leishmaniasis in Mice.

International journal of molecular sciences
2023

Application of Accelerator Mass Spectrometry to Characterize the Mass Balance Recovery and Disposition of AZD4831, a Novel Myeloperoxidase Inhibitor, following Administration of an Oral Radiolabeled Microtracer Dose in Humans.

Drug metabolism and disposition: the biological fate of chemicals
2023

Novel homozygote variant in the HJV gene leading to juvenile hemochromatosis: a case report.

Gastroenterology and hepatology from bed to bench
2022

Haemochromatosis revisited.

World journal of hepatology
2022

Machine learning for the prediction of acute kidney injury in patients after cardiac surgery.

Frontiers in surgery
2022

A crosstalk between hepcidin and IRE/IRP pathways controls ferroportin expression and determines serum iron levels in mice.

eLife
2022

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.

Orphanet journal of rare diseases
2022

Radiation and immune checkpoint inhibitor-mediated pneumonitis risk stratification in patients with locally advanced non-small cell lung cancer: role of functional lung radiomics?

Discover oncology
2022

Surgical stabilization of rib fractures versus nonoperative treatment in patients with multiple rib fractures following cardiopulmonary resuscitation: An international, retrospective matched case-control study.

The journal of trauma and acute care surgery
2022

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.

The lancet. Gastroenterology &amp; hepatology
2023

Metabolomics in pediatric lower respiratory tract infections and sepsis: a literature review.

Pediatric research
2022

Effect of Cyclic Heat Stress on Hypothalamic Oxygen Homeostasis and Inflammatory State in the Jungle Fowl and Three Broiler-Based Research Lines.

Frontiers in veterinary science
2022

Goat Milk Based Infant Formula in Newborns: A Double-Blind Randomized Controlled Trial on Growth and Safety.

Journal of pediatric gastroenterology and nutrition
2022

Quality of Life and Quality of Death Outcomes of the SILENCE Study.

Journal of pain and symptom management
2022

Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene.

Case reports in pediatrics
2022

Hepcidin is potential regulator for renin activity.

PloS one
2022

Comparison of Two Automated Targeted Metabolomics Programs to Manual Profiling by an Experienced Spectroscopist for 1H-NMR Spectra.

Metabolites
2022

Effects of Peri-Conception and Pregnancy Glycemic Variability on Pregnancy and Perinatal Complications in Type 1 Diabetes: A Pilot Study.

Experimental and clinical endocrinology &amp; diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2022

Hepcidin in hepatocellular carcinoma.

British journal of cancer
2022

Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.

Genetic testing and molecular biomarkers
2022

Hemojuvelin deficiency promotes liver mitochondrial dysfunction and predisposes mice to hepatocellular carcinoma.

Communications biology
2021

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes
2021

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes
2022

The feasibility and reliability of frailty assessment tools applicable in acute in-hospital trauma patients: A systematic review.

The journal of trauma and acute care surgery
2021

Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.

Orphanet journal of rare diseases
2021

Tissue-Specific Regulation of Ferroportin in Wild-Type and Hjv-/- Mice Following Dietary Iron Manipulations.

Hepatology communications
2021

Chest wall injuries due to cardiopulmonary resuscitation and the effect on in-hospital outcomes in survivors of out-of-hospital cardiac arrest.

The journal of trauma and acute care surgery
2021

Evaluation of Normothermic Machine Perfusion of Porcine Livers as a Novel Preclinical Model to Predict Biliary Clearance and Transporter-Mediated Drug-Drug Interactions Using Statins.

Drug metabolism and disposition: the biological fate of chemicals
2021

Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies.

The American journal of clinical nutrition
2021

Platelet to erythrocyte transfusion ratio and mortality in massively transfused trauma patients. A systematic review and meta-analysis.

The journal of trauma and acute care surgery
2021

Reliability of Quantitative 18F-FDG PET/CT Imaging Biomarkers for Classifying Early Response to Chemoradiotherapy in Patients With Locally Advanced Non-Small Cell Lung Cancer.

Clinical nuclear medicine
2021

Combined heart-liver transplantation in a case of haemochromatosis.

BMJ case reports
2021

SLN124, a GalNac-siRNA targeting transmembrane serine protease 6, in combination with deferiprone therapy reduces ineffective erythropoiesis and hepatic iron-overload in a mouse model of β-thalassaemia.

British journal of haematology
2021

Juvenile haemochromatosis.

The Lancet. Child &amp; adolescent health
2021

Hepatocyte neogenin is required for hemojuvelin-mediated hepcidin expression and iron homeostasis in mice.

Blood
2021

Matriptase-2 and Hemojuvelin in Hepcidin Regulation: In Vivo Immunoblot Studies in Mask Mice.

International journal of molecular sciences
2021

Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.

Medicine
2022

Co-occurrence of vertebral artery hypoplasia and high jugular bulb in patients undergoing cranial magnetic resonance imaging.

Acta neurologica Belgica
2021

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review.

Open access rheumatology : research and reviews
2020

[A case of ferroportin disease with phenotype A gene mutation in SCL40A1 resembling phenotype B manifestation influenced by alcohol consumption].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2021

A high-fructose diet in rats induces systemic iron deficiency and hepatic iron overload by an inflammation mechanism.

Journal of food biochemistry
2021

Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.

American journal of hematology
2021

Outcome after surgical stabilization of rib fractures versus nonoperative treatment in patients with multiple rib fractures and moderate to severe traumatic brain injury (CWIS-TBI).

The journal of trauma and acute care surgery
2020

The association between level of trauma care and clinical outcome measures: A systematic review and meta-analysis.

The journal of trauma and acute care surgery
2020

Effects of an early life diet containing large phospholipid-coated lipid globules on hepatic lipid metabolism in mice.

Scientific reports
2020

Spontaneous liver disease in wild-type C57BL/6JOlaHsd mice fed semisynthetic diet.

PloS one
2020

Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario.

BMJ case reports
2021

The Proteomics Study of Compounded HFE/TF/TfR2/HJV Genetic Variations in a Thai Family with Iron Overload, Chronic Anemia, and Motor Neuron Disorder.

Journal of molecular neuroscience : MN
2020

Juvenile Hemochromatosis: A Case Report and Review of the Literature.

Pharmaceuticals (Basel, Switzerland)
2021

HFE inhibits type I IFNs signaling by targeting the SQSTM1-mediated MAVS autophagic degradation.

Autophagy
2020

[Progress on epigenetic regulation of iron homeostasis].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
2020

Bone morphogenic proteins in iron homeostasis.

Bone
2020

Repulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.

Proceedings of the National Academy of Sciences of the United States of America
2020

[Iron metabolism and iron-refractory iron deficiency anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2020

Evaluation of the level of selected iron-related proteins/receptors in the liver of rats during separate/combined vanadium and magnesium administration.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
2020

The Action of JAK/STAT3 and BMP/HJV/SMAD Signaling Pathways on Hepcidin Suppression by Tucum-do-Cerrado in a Normal and Iron-Enriched Diets.

Nutrients
2020

The ectodomain of matriptase-2 plays an important nonproteolytic role in suppressing hepcidin expression in mice.

Blood
2020

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.

The American journal of case reports
2020

Immunosuppressant-Induced Oxidative Stress and Iron: A Paradigm Shift from Systemic to Intrahepatic Abnormalities.

Oxidative medicine and cellular longevity
2020

Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.

Journal of clinical and experimental hepatology
2019

Clinicopathological diagnosis and treatment of juvenile hemochromatosis.

Chinese medical journal
2019

Loneliness and Life Satisfaction Explained by Public-Space Use and Mobility Patterns.

International journal of environmental research and public health
2020

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Clinics and research in hepatology and gastroenterology
2020

Parents' Perceptions of Infant Crying: A Possible Path to Preventing Abusive Head Trauma.

Academic pediatrics
2019

Discovery and Development of TMPRSS6 Inhibitors Modulating Hepcidin Levels in Human Hepatocytes.

Cell chemical biology
2022

Impact of Melatonin and Branched-Chain Amino Acids Cosupplementation on Quality of Life, Fatigue, and Nutritional Status in Cachectic Heart Failure Patients: A Randomized Controlled Trial.

American journal of lifestyle medicine
2020

Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.

Hepatology research : the official journal of the Japan Society of Hepatology
2019

Mouse models of hereditary hemochromatosis do not develop early liver fibrosis in response to a high fat diet.

PloS one
2020

The functional role of hemojuvelin in acute ischemic stroke.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
2019

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Orphanet journal of rare diseases
2019

Prophylactic Haloperidol Effects on Long-term Quality of Life in Critically Ill Patients at High Risk for Delirium: Results of the REDUCE Study.

Anesthesiology
2019

[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].

Zhongguo shi yan xue ye xue za zhi
2019

Recent progress on inhibitors of the type II transmembrane serine proteases, hepsin, matriptase and matriptase-2.

Future medicinal chemistry
2019

High-Frame-Rate Echo-Particle Image Velocimetry Can Measure the High-Velocity Diastolic Flow Patterns.

Circulation. Cardiovascular imaging
2019

Transfusion of pathogen-reduced platelet components without leukoreduction.

Transfusion
2019

Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.

Journal of cachexia, sarcopenia and muscle
2019

Hepcidin and the BMP-SMAD pathway: An unexpected liaison.

Vitamins and hormones
2019

Variation in the repulsive guidance molecule family in human populations.

Physiological reports
2018

Effect of atorvastatin on iron metabolism regulation in patients with chronic kidney disease - a randomized double blind crossover study.

Renal failure
2019

Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2019

A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.

Liver international : official journal of the International Association for the Study of the Liver
2018

Inherited Disorders of Iron Overload.

Frontiers in nutrition
2019

Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?

Blood cells, molecules &amp; diseases
2018

Variable workup calls for guideline development for type 2A hereditary haemochromatosis.

The Netherlands journal of medicine
2018

Hepcidin-mediated hypoferremic response to acute inflammation requires a threshold of Bmp6/Hjv/Smad signaling.

Blood
2018

Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.

Blood cells, molecules &amp; diseases
2018

MC-LR induces dysregulation of iron homeostasis by inhibiting hepcidin expression: A preliminary study.

Chemosphere
2018

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Journal of medical genetics
2018

An Ex Vivo Fermentation Screening Platform to Study Drug Metabolism by Human Gut Microbiota.

Drug metabolism and disposition: the biological fate of chemicals
2018

Mitochondrial uncoupling prodrug improves tissue sparing, cognitive outcome, and mitochondrial bioenergetics after traumatic brain injury in male mice.

Journal of neuroscience research
2018

Phrenic neuropathy and diaphragm dysfunction in neuralgic amyotrophy.

Neurology
2018

High-Frame-Rate Contrast-enhanced US Particle Image Velocimetry in the Abdominal Aorta: First Human Results.

Radiology
2018

Contribution of the precursors and interplay of the pathways in the phospholipid metabolism of the malaria parasite.

Journal of lipid research
2018

An In Vivo Study on Intoxicating Effects of Nerium oleander Water Based Extract on Multiorgans of Wistar Rat.

Canadian journal of gastroenterology &amp; hepatology
2018

Differential metabolic effects of oral butyrate treatment in lean versus metabolic syndrome subjects.

Clinical and translational gastroenterology
2018

A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2018

Neuroimaging Findings of Organic Acidemias and Aminoacidopathies.

Radiographics : a review publication of the Radiological Society of North America, Inc
2018

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.

Blood
2018

Urinary biomarkers predict advanced acute kidney injury after cardiovascular surgery.

Critical care (London, England)
2018

Matriptase-2 deficiency protects from obesity by modulating iron homeostasis.

Nature communications
2018

Computer simulation of syringomyelia in dogs.

BMC veterinary research
2018

Transcriptome analysis reveals TMPRSS6 isoforms with distinct functionalities.

Journal of cellular and molecular medicine
2018

Identification of Genes for Hereditary Hemochromatosis.

Methods in molecular biology (Clifton, N.J.)
2018

Hemojuvelin Predicts Acute Kidney Injury and Poor Outcomes Following Cardiac Surgery.

Scientific reports
2018

Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.

Journal of medical case reports
2018

A quantitative multimodal metabolomic assay for colorectal cancer.

BMC cancer
2018

Pharmacodynamics and Pharmacokinetics of Lidocaine in a Rodent Model of Diabetic Neuropathy.

Anesthesiology
2018

Causes of iron overload in blood donors - a clinical study.

Vox sanguinis
2018

Advanced iron-overload cardiomyopathy in a genetic murine model is rescued by resveratrol therapy.

Bioscience reports
2018

Microvascular Permeability after an Acute and Chronic Salt Load in Healthy Subjects: A Randomized Open-label Crossover Intervention Study.

Anesthesiology
2018

The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.

International journal of hematology
2018

HDAC1 Governs Iron Homeostasis Independent of Histone Deacetylation in Iron-Overload Murine Models.

Antioxidants &amp; redox signaling
2017

Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica
2017

Effect of erythropoietin administration on proteins participating in iron homeostasis in Tmprss6-mutated mask mice.

PloS one
2017

Deletion of BMP6 worsens the phenotype of HJV-deficient mice and attenuates hepcidin levels reached after LPS challenge.

Blood
2017

Prediction of work resumption and sustainability up to 1 year after mild traumatic brain injury.

Neurology
2017

[Progress in iron metabolism research].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2018

"Haemochromatotic" characteristics of the human BEL-7402 cell line.

British journal of haematology
2018

Serpinb3 is overexpressed in the liver in presence of iron overload.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research
2017

Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway.

The Journal of biological chemistry
2017

A single-nucleotide polymorphism in transferrin is associated with soluble transferrin receptor in Chinese adolescents.

Asia Pacific journal of clinical nutrition
2017

Angiogenic Markers Predict Pregnancy Complications and Prolongation in Preeclampsia: Continuous Versus Cutoff Values.

Hypertension (Dallas, Tex. : 1979)
2017

Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine
2017

Hemojuvelin regulates the innate immune response to peritoneal bacterial infection in mice.

Cell discovery
2017

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.

Blood
2017

Synergistic inhibitory effects of deferasirox in combination with decitabine on leukemia cell lines SKM-1, THP-1, and K-562.

Oncotarget

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Hemocromatose relacionada com HJV ou HAMP

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Doenças relacionadas

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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. Back to basics: Bile acids in fat absorption.
    Cell metabolism· 2026· PMID 41638187mais citado
  2. Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
    Orphanet journal of rare diseases· 2026· PMID 41803992mais citado
  3. Linear Growth in Children With Cystic Fibrosis in the Netherlands Born Between 1997-2004; Results of a Multicenter Cohort Analysis.
    Pediatric pulmonology· 2026· PMID 41711426mais citado
  4. TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.
    Journal of molecular medicine (Berlin, Germany)· 2026· PMID 41677839mais citado
  5. Maternal Adiposity and DNA Methylation of TfR2 and HJV Genes in Early Pregnancy: Mediating Role of Inflammation and Consequences for Iron Status.
    The Journal of nutrition· 2026· PMID 41651072mais citado
  6. Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
    Clin Chem· 2007· PMID 17951290recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79230(Orphanet)
  2. MONDO:0019257(MONDO)
  3. Sobrecarga de Ferro — Hemocromatose Hereditaria(PCDT · Ministério da Saúde)
  4. GARD:10092(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q6318953(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

Hemocromatose relacionada com HJV ou HAMP
Compêndio · Raras BR

Hemocromatose relacionada com HJV ou HAMP

ORPHA:79230 · MONDO:0019257
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
74 casos conhecidos
Herança
Autosomal recessive
CID-10
E83.1 · Doença do metabolismo do ferro
CID-11
Início
Adolescent, Adult, Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0268060
Wikidata
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