Raras
Buscar doenças, sintomas, genes...
Síndrome CACH juvenil ou do adulto
ORPHA:157719CID-10 · E75.2CID-11 · 8A44.3DOENÇA RARA

A testosterona é o principal andrógeno e um esteroide anabolizante. Em humanos e animais do sexo masculino, a testosterona desempenha um papel fundamental no desenvolvimento de tecidos reprodutores masculinos, como testículos e próstata, bem como a promoção de características sexuais secundárias, como o aumento da massa muscular, aumento e maturação dos ossos e o crescimento do cabelo corporal. Além disso, a testosterona está envolvida na saúde, no bem-estar e na prevenção da osteoporose. Níveis insuficientes de testosterona nos homens podem levar a anormalidades, incluindo fragilidade e perda óssea.

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Introdução

O que você precisa saber de cara

📋

Doença neurodegenerativa rara com início na infância ou idade adulta, caracterizada por leucodistrofia, ataxia cerebelar e deficiência cognitiva progressiva. Causada por mutações nos genes EIF2B.

🏥
SUS: Cobertura mínimaScore: 20%
CID-10: E75.2
🇧🇷Dados SUS / DATASUS2024
890
internações/ano
R$ 45.670
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPRJMGRSPR
PROCEDIMENTOS SIGTAP (8)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)enzyme_replacement
0202080013
Teste do pezinho (triagem neonatal)rehabilitation
0303050101
Infusão de imiglucerase (Gaucher)
+2 outros procedimentos
Você se identifica com essa condição?
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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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026196 papers
Linha do tempo
2026Hoje · 2026
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

5 genes identificados com associação a esta condição.

Autosomal recessive
EIF2B2Translation initiation factor eIF2B subunit betaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 2

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
37.5 TPM
Artéria tibial
26.8 TPM
Testículo
25.3 TPM
Fibroblastos
25.2 TPM
Glândula adrenal
22.0 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 2juvenile or adult CACH syndromelate infantile CACH syndromecongenital or early infantile CACH syndrome
HGNC:3258UniProt:P49770
EIF2B5Translation initiation factor eIF2B subunit epsilonDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 5

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
71.5 TPM
Cerebelo
70.8 TPM
Cervix Endocervix
59.6 TPM
Pituitária
59.6 TPM
Próstata
59.6 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 5juvenile or adult CACH syndromecongenital or early infantile CACH syndromelate infantile CACH syndrome
HGNC:3261UniProt:Q13144
EIF2B3Translation initiation factor eIF2B subunit gammaDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on the eukaryotic initiation factor 2 (eIF2) complex gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is re

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 3

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
31.1 TPM
Nervo tibial
26.6 TPM
Fibroblastos
25.3 TPM
Testículo
24.9 TPM
Cervix Ectocervix
23.6 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 3juvenile or adult CACH syndromeobsolete ovarioleukodystrophycongenital or early infantile CACH syndrome
HGNC:3259UniProt:Q9NR50
EIF2B1Translation initiation factor eIF2B subunit alphaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 1

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Útero
67.5 TPM
Cervix Endocervix
63.4 TPM
Linfócitos
62.4 TPM
Cervix Ectocervix
61.6 TPM
Ovário
59.6 TPM
OUTRAS DOENÇAS (5)
leukoencephalopathy with vanishing white matter 1juvenile or adult CACH syndromecongenital or early infantile CACH syndromelate infantile CACH syndrome
HGNC:3257UniProt:Q14232
EIF2B4Translation initiation factor eIF2B subunit deltaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 4

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
93.0 TPM
Cervix Endocervix
68.4 TPM
Próstata
65.7 TPM
Nervo tibial
65.3 TPM
Cólon sigmoide
60.3 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 4late infantile CACH syndromejuvenile or adult CACH syndromecongenital or early infantile CACH syndrome
HGNC:3260UniProt:Q9UI10

Variantes genéticas (ClinVar)

186 variantes patogênicas registradas no ClinVar.

🧬 EIF2B4: NM_001034116.2(EIF2B4):c.625C>T (p.Arg209Ter) ()
🧬 EIF2B4: GRCh37/hg19 2p25.3-23.1(chr2:12771-30565600)x3 ()
🧬 EIF2B4: NM_001034116.2(EIF2B4):c.1121G>A (p.Arg374His) ()
🧬 EIF2B4: NM_001034116.2(EIF2B4):c.1329C>G (p.Phe443Leu) ()
🧬 EIF2B4: NM_001034116.2(EIF2B4):c.613C>G (p.Pro205Ala) ()
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

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome CACH juvenil ou do adulto

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.

European journal of pediatrics2026 Mar 24

Este estudo sobre artrite idiopática juvenil (AIJ) não sistêmica em crianças revelou que aproximadamente metade dos pacientes experimenta recaídas após a remissão. Fatores como maior duração da doença, múltiplas articulações afetadas no diagnóstico e o envolvimento da articulação metacarpofalângica (MCP) podem predizer essas recaídas. Para um curso de doença mais grave, caracterizado por múltiplas recaídas e necessidade de terapias biológicas, a idade mais jovem no diagnóstico e o envolvimento das articulações do tornozelo e temporomandibular (ATM) são indicadores cruciais para médicos e pacientes.

🇧🇷 traduzido
#2

Reliability of durometry to assess firmness of calcinosis lesions in Juvenile and adult dermatomyositis.

PloS one2026

Pacientes com dermatomiosite (DM/JDM) frequentemente sofrem de calcinose, uma complicação cuja firmeza é difícil de avaliar. Este estudo validou a durometria, um aparelho manual, como uma ferramenta nova e confiável para medir quantitativamente a dureza dessas lesões. Para médicos e pacientes, isso oferece um método mais objetivo para caracterizar e potencialmente monitorar a calcinose, melhorando a avaliação e o manejo da condição.

🇧🇷 traduzido
#3

Autologous stem cell transplant for severe, progressive juvenile systemic sclerosis.

Stem cells translational medicine2026 Mar 23

A esclerose sistêmica juvenil (jSSc) é uma doença autoimune rara e grave em crianças, que causa espessamento da pele, toxicidade de órgãos e tem opções de tratamento limitadas. No entanto, este relato promissor destaca que um transplante autólogo de células-tronco levou a uma melhora clínica em um jovem de 17 anos com jSSc refratária, sugerindo uma alternativa terapêutica potencialmente eficaz para casos severos e sem resposta a tratamentos convencionais. Isso oferece esperança a pacientes e médicos que buscam novas abordagens para essa condição desafiadora.

🇧🇷 traduzido
#4

Ultra-fast generation of all-female grass carp via transplantation of female germline stem cells into zebrafish.

Science China. Life sciences2026 Mar 17

Este artigo descreve uma estratégia inovadora e ultrarrápida para gerar carpas-capim exclusivamente fêmeas em apenas seis meses, superando o longo período de maturação natural de cinco anos da espécie. Isso foi alcançado transplantando células-tronco germinativas femininas de carpas juvenis para peixes-zebra, onde essas células se diferenciaram em espermatozoides funcionais, produzindo descendência totalmente feminina. Embora represente um avanço significativo para a aquacultura e o controlo de sexo em peixes, esta pesquisa não possui relevância direta para pacientes ou médicos na área da saúde humana.

🇧🇷 traduzido
#5

Body growth and shape regulation by neuropeptides and other neuroactive peptides in insects.

Current opinion in insect science2026 Mar 19

Este artigo científico revisa como neuropeptídeos e outros peptídeos neuroativos regulam o crescimento e a forma do corpo em **insetos**, controlando o desenvolvimento dos tecidos, o comportamento alimentar e a morfogênese, especialmente em estágios juvenis. Embora focado em insetos, esta pesquisa oferece uma compreensão fundamental de como sistemas de sinalização biológicos coordenam o desenvolvimento. Entender esses mecanismos básicos pode, futuramente, servir como **modelo** para auxiliar na compreensão e no tratamento de distúrbios complexos de crescimento e desenvolvimento em humanos, como os que afetam o tamanho ou a forma corporal em fases juvenis ou adultas.

🇧🇷 traduzido

Publicações recentes

📚 EuropePMCmostrando 197

2026

An Evaluability Assessment of a School-Based Prevention Program: Promoting Evaluation Capacity Building.

Justice evaluation journal
2026

Methotrexate Therapy in Juvenile Idiopathic Arthritis: No Clinically Relevant Pulmonary Impairment but Frequent Transient Liver Enzyme Elevations in a Longitudinal Single-Center Pediatric Cohort of 274 Children Over 30 Years.

ACR open rheumatology
2026

The gut-joint axis in juvenile idiopathic arthritis.

Arthritis research & therapy
2026

Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.

European journal of pediatrics
2026

Application of a novel Musculoskeletal Ultrasound Sum Score (MUSS) in the follow-up of patients with juvenile idiopathic arthritis.

Rheumatology (Oxford, England)
2026

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

The Journal of international medical research
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Hair progesterone reflects past reproductive activity in the invasive Pallas's squirrel Callosciurus erythraeus.

General and comparative endocrinology
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Establishment of a Neonatal Natural Transmission Model for CMV Vaccine Development.

The Journal of infectious diseases
2026

Reliability of durometry to assess firmness of calcinosis lesions in Juvenile and adult dermatomyositis.

PloS one
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Anti-PD-L1 therapy to prevent systemic immune suppression after polytraumatic brain injury in rats.

The journal of trauma and acute care surgery
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Pediatric Myasthenia Gravis.

International ophthalmology clinics
2026

The Association between Type of Maltreatment and Placement Instability: The Influence of Runaway and Dual System Involvement.

Journal of child & adolescent trauma
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Relapse of Juvenile Dermatomyositis following Eight Years in Remission: A Case Report.

Case reports in dermatology
2026

Population structure, age distribution and sex composition of long-tailed gorals in Jangsudae, Seoraksan National Park, Republic of Korea.

Biodiversity data journal
2026

Early life stress of maternal deprivation and peer-rearing jeopardize mesoprefrontal and mesolimbic dopamine receptors in the rhesus monkey.

bioRxiv : the preprint server for biology
2025

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Molecular vision
2026

Biomonitoring and toxicological assessment of Ochratoxin A and Citrinin in a sex-gender perspective: The OTABioTox Project.

Annali dell'Istituto superiore di sanita
2026

Autologous stem cell transplant for severe, progressive juvenile systemic sclerosis.

Stem cells translational medicine
2026

Morel Lavallée Lesion Following Excessive Physiotherapy for Ankle Arthritis in a Child with Juvenile Idiopathic Arthritis: Correspondence.

Indian journal of pediatrics
2026

Ultra-fast generation of all-female grass carp via transplantation of female germline stem cells into zebrafish.

Science China. Life sciences
2026

Rearing substrate modulates mealworm (Tenebrio molitor) bioactivity: Implications for rainbow trout (Oncorhynchus mykiss) innate immune and oxidative status.

Fish & shellfish immunology
2026

Clinical characteristics and quality of life measures in children with glaucoma-suspect or glaucoma diagnoses in chronic, noninfectious uveitis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Etiologies of Wrist Arthritis in the Young Patient.

Hand clinics
2026

Body growth and shape regulation by neuropeptides and other neuroactive peptides in insects.

Current opinion in insect science
2026

AA amyloidosis in inflammatory joint diseases in the era of biological therapies: prevalence, manifestations, management and evolution.

Joint bone spine
2026

Juvenile Osteochondritis Dissecans of the Knee in the General Adolescent Population: Prevalence and Longitudinal Trends.

Journal of ISAKOS : joint disorders & orthopaedic sports medicine
2026

Electroencephalography signals in a female Fragile X Syndrome mouse model.

NeuroImage
2026

Comparative ecotoxicological assessment of nano-formulated and conventional copper-based pesticides on the freshwater snail Planorbarius corneus.

Ecotoxicology and environmental safety
2026

The Auditory Manifestations of Autoimmune Rheumatologic Diseases: A Review of Current Evidence.

Current rheumatology reviews
2026

COLLEMBOT: AI-based counting of Collembola for OECD 232 Tests.

Environmental toxicology and chemistry
2026

Points vs. passes: A comparison between electric fishing techniques for sampling fish populations in upland headwater streams.

Journal of fish biology
2026

JAK2 inhibition with baricitinib stunts growth and postnatal development in juvenile rats.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

From maternal nutrition to neonatal neuroprotection: Passion fruit stilbenes in hypoxia-ischemia.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2026

Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study.

Medicine
2026

Entanglement mortality associated with using plastic debris as nesting material in the Eurasian tree sparrow (Passer montanus).

Environmental science and pollution research international
2026

Endocrine Disruptor 2,7-Dibromocarbazole Disrupts Energy Metabolism and Alters Locomotor Behavior in Juvenile Zebrafish.

Chemical research in toxicology
2026

First record of young-of-the-year smooth hammerhead (Sphyrna zygaena) in coastal waters of Galicia, northwest Spain.

Journal of fish biology
2026

Severe Juvenile Dermatomyositis With Peripheral Nervous System Involvement: A Case Report.

Cureus
2026

Validating Dental Histology for Perinatal Age Estimation Using Human Deciduous Teeth.

American journal of biological anthropology
2026

Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.

European journal of pediatrics
2026

Rheumatic diseases in childhood: Clinical and immunological characteristics of a pediatric cohort at a tertiary hospital.

Reumatologia clinica
2026

Single-centre observational study of anti-adalimumab antibody development in children and young people treated for juvenile idiopathic arthritis and/or non-infectious uveitis.

The British journal of ophthalmology
2026

Progressive multifocal leucoencephalopathy as a rare complication of anti-synthetase syndrome associated with immunosuppressive therapy.

BMJ case reports
2026

Border irregularities in fibroadenomas: an under-recognised phenomenon of diagnostic impact.

Journal of clinical pathology
2026

Glucagon-like peptide-1 analog, liraglutide, alters blood-testis barrier permeability in juvenile healthy rats.

Environmental toxicology and pharmacology
2026

Hot-Dry Weather Is Associated with Worse Reproductive Outcomes Regardless of Group Composition in a Long-Lived Cooperatively Breeding Bird.

The American naturalist
2026

A Narrative Review of Secukinumab in Spondyloarthritis and Psoriatic Arthritis: Treating the Whole Patient.

Rheumatology and therapy
2026

Paradoxical Expression of Ionotropic Glutamate Receptors in Leucocytes.

Clinical reviews in allergy & immunology
2026

Effects of supplemental dietary blend of humic substances and butyric acid plus yeast cell walls on immunity and resistance to bacterial coinfection in juvenile Channel Catfish.

Journal of aquatic animal health
2026

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.

Journal of inherited metabolic disease
2026

Artificial turf fields act as recurring point sources of metals and emerging tire-derived contaminants in stormwater.

Environmental science. Processes & impacts
2026

Microencapsulated Akkermansia muciniphila alleviates acute lung injury in juvenile mice by protecting intestinal barrier.

Frontiers in cellular and infection microbiology
2026

Predation on sea turtles at sea: A multi-source synthesis and research perspectives.

The Journal of animal ecology
2026

Multicenter randomized controlled trial of cognitive-behavioral, exercise-based, and combined interventions for juvenile fibromyalgia.

Pain
2026

Green Solutions With Plagiochasma appendiculatum: Nutraceutical and Pesticidal Potentials.

Chemistry & biodiversity
2026

The immature sacroiliac joints on cross-sectional imaging: developmental anatomy and diagnostic pitfalls.

Skeletal radiology
2026

Temporal patterns of radiocesium decline in current-year branches of coppiced Quercus serrata relative to stand age after the Fukushima nuclear accident.

Scientific reports
2026

Dietary luteolin supplementation enhances growth performance, digestive capacity, and immune-antioxidant status of whiteleg shrimp (Litopenaeus vannamei) against Vibrio parahaemolyticus infection.

Developmental and comparative immunology
2026

Endocrine gland growth as the developmental switch for insect diapause.

Proceedings of the National Academy of Sciences of the United States of America
2026

Bone microarchitecture impairment in juvenile systemic lupus erythematosus patients: A comparative study.

Lupus
2026

Novel TLR7 gain-of-function variant and review of the associated disease spectrum.

Journal of human immunity
2026

Mechanisms of social evolution from cockroaches to termites.

Yi chuan = Hereditas
2026

Tough toad ahead: ontogenetic variation in thermal tolerance defines life-stage vulnerability in Duttaphrynus melanostictus.

Journal of thermal biology
2026

Complications and outcomes of 25 dogs undergoing surgery for intramural ureteral ectopia via a minimally invasive modified cystoscopic-guided scissor transection.

The Journal of small animal practice
2026

Automated Profiling of Social Behaviors to Assess the Genetic Basis of Evolution of Aggressive Behaviors in Astyanax mexicanus.

Journal of experimental zoology. Part A, Ecological and integrative physiology
2026

Effects of very early arthritis on pain, behavior, and hippocampal TNF/BDNF in rats.

Pediatric research
2026

Confirmed Outbreaks of Streptococcosis Caused by Streptococcus agalactiae Serotype Ia in Nile Tilapia Culture From Campeche, Mexico.

Journal of fish diseases
2026

LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.

Journal of pediatric endocrinology & metabolism : JPEM
2026

Reversible cystogenesis in juvenile primate ADPKD models: evidence from PKD1 heterozygous monkeys.

Human molecular genetics
2026

Genotype-Dependent Transcriptome Divergence Associated With Variation at vgll3 in Juvenile Gilthead Seabream (Sparus aurata).

Molecular ecology
2026

TON1 and FASS are required to recruit myosin VIII, a cell division guidance factor.

Proceedings of the National Academy of Sciences of the United States of America
2026

Use of cryobiopsy for diagnosis and treatment of a rare laryngeal tumor in pediatrics.

Archivos argentinos de pediatria
2026

Long-term comorbidity patterns in juvenile idiopathic arthritis.

Clinical and experimental rheumatology
2026

Speed breeding in perennial fruit crops as a novel strategy to reduce generation period.

Physiology and molecular biology of plants : an international journal of functional plant biology
2026

Overview of elbow arthritis, a rare involvement in patients with juvenile idiopathic arthritis.

Advances in rheumatology (London, England)
2026

Impact of hydrokinetic turbines on rainbow trout behaviour.

Scientific reports
2026

Evaluation of DICER1 Immunohistochemistry as a Potential Surrogate for Mutation Status in Ovarian Sex Cord-Stromal Tumors.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2026

Cannibalism, predation, and refuges of juvenile blue crabs from a 37-year experiment.

Proceedings of the National Academy of Sciences of the United States of America
2026

Chemically mediated neural and behavioral responses in early benthic juvenile Caribbean spiny lobsters, Panulirus argus.

PloS one
2026

Fraction of sex-inducing substances facilitates growth and body shape change in a Fasciola hepatica/gigantica hybrid: A novel in vitro research platform for studying liver-stage juveniles derived from mice.

PLoS neglected tropical diseases
2026

Alexander Disease: A Literature Review for Clinicians.

Journal of child neurology
2026

Drivers of Viral Diversity and Sharing in Marine Mammals.

Molecular ecology
2026

Fatty acid profiles of muscle and liver reveal ontogenetic shifts in diet and reproductive investment in an undulate ray from the Bay of Biscay (northeast Atlantic).

Journal of fish biology
2026

A haplotype-specific PCR strategy for rapid and cost-effective identification of redfish species (genus Sebastes) in the North Atlantic and Arctic oceans.

Journal of fish biology
2026

Parents' Experiences Supporting Justice-Involved Adolescents at Risk of Suicide During the Pre-Detention Phase in Indonesia.

Journal of multidisciplinary healthcare
2026

Pregnancy outcomes in juvenile idiopathic arthritis: systematic review and meta-analysis.

Proceedings (Baylor University. Medical Center)
2026

Juvenile idiopathic arthritis and pregnancy.

Proceedings (Baylor University. Medical Center)
2026

Effects of active action observation on cognitive, emotional, motor, and somatosensory outcomes in adolescents with juvenile idiopathic arthritis: a prospective exploratory case series.

Frontiers in human neuroscience
2026

Juvenile nasopharyngeal angiofibroma: nationwide study on incidence, diagnosis, treatment, and recurrence.

Rhinology
2026

[Progress on the diagnosis and treatment of juvenile idiopathic inflammatory myopathies].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Thermal Model for investigating the timing of the onset of phenological events in ectotherms and the technique of estimating its parameters.

Bio Systems
2026

Breaking paradigms: Reconsidering the role of harmless vibrios in shrimp health.

Journal of invertebrate pathology
2026

Scleroderma sine-Raynaud in children: the Fibrotic Subtype.

The Journal of rheumatology
2026

Violent Victimization Histories and the Victim-Offender Overlap among Incarcerated Youth: Toward Trauma-Informed Juvenile Justice.

International journal of offender therapy and comparative criminology
2026

From Bullying Victimization to Sexual Coercion Victimization: Do These Differ for Heterosexual and LGB Adolescents in the United States?

Behavioral sciences & the law
2025

Operating Microscope in the Analysis of Localized Juvenile Spongiotic Gingival Hyperplasia.

Oral diseases
2026

Juveniles and where to find them: a basin-scale habitat model for the lost years of loggerhead sea turtles in the North Atlantic.

Movement ecology
2026

Methoprene and dsSepbanr co-delivered RNAi nano-system: a dual-mechanism strategy for targeted disruption of development and reproduction in Spodoptera exigua.

Pesticide biochemistry and physiology
2026

Per- and polyfluoroalkyl substances (PFAS) in aquaculture feeds and potential dietary exposure to and from aquaculture fish.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association
2026

A Loss-of-Function Mutation in bco1l Underlies Yellow Coloration in Large Yellow Croaker (Larimichthys crocea).

Animals : an open access journal from MDPI
2026

Comparative Transcriptome Analysis of Orbital Fat Reveals Stage-Specific Gene Expression Associated with Growth Variation in Bighead Carp (Hypophthalmichthys nobilis).

Animals : an open access journal from MDPI
2026

Allometric Growth of Feeding and Locomotor Structures During Early Ontogeny of Rabbitfish (Siganus fuscescens).

Animals : an open access journal from MDPI
2026

Effects of Dietary Peanut Skin Proanthocyanidin Supplementation on Antioxidant Capacity and Intestinal Health of Juvenile American Eels (Anguilla rostrata).

Animals : an open access journal from MDPI
2026

Taurine Intake Alleviates Oxidative Damage During Transportation in Culter alburnus.

Animals : an open access journal from MDPI
2026

Biphasic response of silent synapses: Differential remodeling of hippocampal synaptic plasticity by status epilepticus in juvenile versus adult mice.

Neurochemistry international
2026

CYP6A14 is the major P450 epoxidase responsible for juvenile hormone Ⅲ skipped bisepoxide biosynthesis in Aphis craccivora.

Insect biochemistry and molecular biology
2026

Polyester microfiber accumulation and toxicological effects on freshwater fish Labeo rohita.

Environmental toxicology and pharmacology
2026

Cost-Utility and Budget Impact Analysis of Tumor Necrosis Factor-Alpha Inhibitors for the Treatment of Refractory Nonsystemic Juvenile Idiopathic Arthritis in Thailand.

Value in health regional issues
2026

ODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.

Proceedings of the National Academy of Sciences of the United States of America
2026

Clinical characteristics and diagnostic indicators of childhood-onset systemic lupus erythematosus complicated with macrophage activation syndrome.

Clinical rheumatology
2026

A prospective study of VR-assessed state paranoia and anxiety suggests threat-related developmental pathways in adolescence.

Social psychiatry and psychiatric epidemiology
2026

Spatio-Temporal Variability Description of the Rare Species Lilium martagon L. in Different Habitat Conditions.

Biology
2026

Real-world use of biologics for non-systemic juvenile idiopathic arthritis: information from a Japanese hospital claims database.

Modern rheumatology
2026

Variation in behavioural maturation in tropical honey bees corresponds with hormonal and molecular differences.

The Journal of experimental biology
2026

Long-term biochemical stability of fresh-frozen plasma from Asian elephants (Elephas maximus) stored at -20°C: Implications for emergency transfusion protocols for elephant endotheliotropic herpesvirus hemorrhagic disease.

Veterinary world
2026

First validated liquid chromatography-tandem mass spectrometry method for simultaneous quantification of propranolol and 4-hydroxypropranolol in pig plasma and dried blood spots and its application to a pharmacokinetic study.

Veterinary world
2026

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Neurology. Genetics
2026

Evaluation of the Peaceful Connections Violence Prevention Program: Local Evaluation Report.

Rand health quarterly
2026

Effects of Replacing Fishmeal With Antarctic Krill Meal on Nutrient Deposition, Metabolism, and Immunity in Silver Pomfret (Pampus argenteus).

Aquaculture nutrition
2026

Highlights on the Contribution of Gut Microbiota to Immune-Mediated Diseases in Childhood.

Mediterranean journal of hematology and infectious diseases
2026

TcALS knockdown accelerates metamorphosis via insulin signaling in Tribolium castaneum.

Insect science
2026

Brachial artery flow-mediated dilation is less repeatable in children with a chronic inflammatory disease compared to their healthy peers.

Clinical physiology and functional imaging
2026

Hematopoietic Stem Cell Transplantation in Rheumatic Diseases.

International journal of rheumatic diseases
2026

Defining Inactivity of Juvenile Spondyloarthropathies: Delphi Study Among Pediatric Rheumatology Academy (PeRA) From Türkiye.

International journal of rheumatic diseases
2026

A case of giant juvenile fibroadenoma in an adolescent girl: a case report.

Journal of medical case reports
2026

Association between asthma and juvenile idiopathic arthritis in children in the United States: a propensity score weighted cross-sectional study.

Pediatric rheumatology online journal
2026

Efficacy of combined JAK1/2 inhibition and cyclosporine in paediatric-onset Still's disease with lung involvement: a case report.

Pediatric rheumatology online journal
2026

An Unusual Presentation of Juvenile Amyotrophic Lateral Sclerosis with Superoxide Dismutase 1 Mutation: Subacute Bulbar Palsy With Asymmetric Limb Weakness.

Annals of Indian Academy of Neurology
2026

Mechanisms of coexistence between Scomber australasicus and Scomber japonicus from the perspective of feeding ecology.

Marine pollution bulletin
2026

Hypothalamic endoplasmic reticulum stress drives pubertal precocity due to early-onset obesity in female rodents.

Proceedings of the National Academy of Sciences of the United States of America
2026

Protective role of nano-selenium on Gymnocypris przewalskii under saline-alkaline stress: a comprehensive analysis of transcriptomics and metabolomics.

Fish physiology and biochemistry
2026

Cellular and systemic sequelae of adolescent social stress: An overview of rodent research.

Behavioral neuroscience
2026

ACR Appropriateness Criteria® Joint Pain: Idiopathic Arthritis-Child.

Journal of the American College of Radiology : JACR
2026

Juvenile Myasthenia Gravis: An Indian Perspective.

Neurology India
2026

Genomic Integrity in Gull Chicks Predicts Colony Departure and Postfledging Movements.

Ecology and evolution
2026

Laterally spreading AAV.SPR enables safe and efficient RS1 delivery to the macula after peripheral subretinal injection.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

Rosemary-derived triterpene acids improve growth and lipid metabolism in juvenile grass carp (Ctenopharyngodon idella) through the gut-liver axis by tissue-specifically regulating the farnesoid X receptor.

Journal of animal science and biotechnology
2026

Efficacy and Safety of Firsekibart in Treatment of Active Systemic Juvenile Idiopathic Arthritis: A Randomized Phase 2 Study.

Rheumatology and therapy
2026

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.

Scientific reports
2025

Rethinking headache in juvenile systemic lupus erythematosus: the need for broader perspectives.

Arquivos de neuro-psiquiatria
2026

Development and immunoprotective evaluation of a chitosan-based nanovaccine against Aeromonas hydrophila in Yangtze sturgeon (Acipenser dabryanus).

Fish & shellfish immunology
2026

Age-dependent MADS-box factors recruit PtTFL2 to orchestrate dormancy depth in Pinus tabuliformis.

Plant science : an international journal of experimental plant biology
2026

Decreases in contaminant loads and risk of adverse effects in harbour porpoises (Phocoena phocoena) from Inner Danish waters over three decades.

Chemosphere
2026

Microplastic ingestion in demersal and benthic species from the Portuguese coast: Scyliorhinuscanicula,Trisopterusluscus,Polybiushenslowii.

Marine environmental research
2026

Nano-curcumin mitigates aluminum oxide nanoparticle toxicity in Nile tilapia through antioxidant and immune modulation.

Fish physiology and biochemistry
2026

Comprehensive identification and co-expression analysis of long non-coding RNAs across eight timepoints of Schistosoma mansoni life cycle.

Memorias do Instituto Oswaldo Cruz
2026

Population-level neural rejuvenation dynamics in addiction: a computational framework for understanding developmental plasticity reactivation.

Frontiers in computational neuroscience
2026

Early-life microbiota disruption-induced deficits in the social brain are sensitive to diet.

iScience
2026

Long-term random sampling confirms high-use areas and indicates declining abundance of juvenile smalltooth sawfish (Pristis pectinata) in Charlotte Harbor, Florida.

Scientific reports
2026

Clinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).

Veterinary ophthalmology
2026

Multiparametric MRI analysis of clinical outcome after hematopoietic stem cell transplantation in juvenile Metachromatic Leukodystrophy.

AJNR. American journal of neuroradiology
2026

The Size, Demography, and Distribution of Cambodia's Largest Elephant Population Revealed Using Traditional Genetic Tools and a Novel SNP Panel.

Integrative zoology
2026

Nup107 is a crucial regulator of torso-mediated metamorphic transition in Drosophila melanogaster.

eLife
2026

Oxygen supply capacity across early-life stages in common snook Centropomus undecimalis.

Journal of fish biology
2026

Survival of a Long-Lived Avian Scavenger: Implications of Age, Season, and Landscape Composition for Mortality Risk.

Ecology and evolution
2026

Primary Productivity and Habitat Depth Shape Developmental Mode in European Marine Gastropods.

Ecology and evolution
2026

Transcriptome profiling of intra-snail stages of the liver fluke Fasciola hepatica reveals key mediators underlying parasite development and interaction with the host.

BMC genomics
2026

Amazon rainforests are rejuvenating their canopies by producing more photosynthetically efficient young leaves under climate change.

Nature plants
2026

Global landscape of juvenile dermatomyositis research: a bibliometric analysis.

Pediatric research
2026

The influence of diet-mediated exposure of avian influenza on adult survival, recruitment and territory occupancy in peregrine falcons.

Scientific reports
2026

2016 sJIA-MAS criteria and a step-up therapeutic approach in KD-MAS: insights from a combined cohort and literature review.

RMD open
2026

3,5-Dibromo-4-hydroxybenzaldehyde induced neurodevelopmental defects via endoplasmic reticulum stress-mediated apoptotic pathway in zebrafish.

Chemico-biological interactions
2026

Relationships between social support, resilience and psychological distress among young offenders in Ghana's correctional facilities: A three-wave longitudinal mediation model.

Journal of forensic and legal medicine
2026

Structural violence and the mental health of asylum-seeking minors: A retrospective directed content analysis.

The American journal of orthopsychiatry
2026

Fruit and seed attributes of plants derived from crossing between triploid Passionflower cytotypes.

Journal of plant research
2026

Mechanical traumatic injuries as a cause of death in free-ranging neotropical non-human primates living in anthropogenic matrices.

Primates; journal of primatology
2026

Imaging characteristics of parotid gland juvenile capillary hemangioma: A Retrospective analysis of 35 pathologically confirmed cases.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2026

High Healthcare Utilization Preceding Diagnosis with Juvenile Idiopathic Arthritis.

Arthritis care & research
2026

Trajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis.

Arthritis care & research
2026

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD reports
2026

Eliglustat prevents acute kidney injury caused by Shiga toxin 2 in lethal and sublethal rat models of hemolytic uremic syndrome.

Frontiers in pharmacology
2025

The Role of Homework Completion During Adolescence on Education and Income Levels in Emerging Adulthood: Results From a Randomized Controlled Trial With Females in Out-Of-Home Care.

Emerging adulthood (Print)
2026

Eruptive juvenile xanthogranuloma and B-cell acute lymphoblastic leukemia in a child: Case report and literature review.

JAAD case reports
2026

Integrated morphological and transcriptomic analysis of sucker development in Octopus minor.

Animal cells and systems
2026

Preservation of pediatric donor hearts via subnormothermic machine perfusion: Comparison to cold storage.

JHLT open
2026

Juvenile Granulosa Cell Tumor of the Ovary in Pregnancy: A Case Report.

Gynecology and minimally invasive therapy
2026

Comprehensive Analysis Reveals Potential Molecular Targets in Juvenile Dermatomyositis.

Biochemistry research international
2026

Resource Availability Modulates Gene Expression Across Life Stages in a Migratory Butterfly.

Molecular ecology
2026

Reliability and Construct Validity of the Physician's Global Assessment of Lung Disease in Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease.

ACR open rheumatology
2026

Early-life adversity and the role of habitat: Consequences for females growing up in a marginal environment.

Hormones and behavior
2026

Bisphenol A disrupts circadian locomotor rhythms via m6A-dependent nr1d1 destabilization in zebrafish larvae.

Ecotoxicology and environmental safety
2026

Recent advances in the juvenile-to-adult phase transition.

Current opinion in plant biology
2026

Behavioral health trajectories and rearrest outcomes among system-involved male youth.

Development and psychopathology
2026

Microscopic detection of nematodes in entomopathogenic nematode-enriched samples using a lightweight deep learning model.

Journal of invertebrate pathology
2026

Enzymatic activity, histological slices, and hepatic transcriptomics analysis of isoprothiolane effects on juvenile tilapia (Oreochromis niloticus).

Comparative biochemistry and physiology. Toxicology & pharmacology : CBP
2026

Can liver biopsy be spared for the diagnosis of autoimmune hepatitis in selected children? A multicenter retrospective study.

Annals of hepatology
2026

Evaluation of IVIM-MRI biomarkers for microvascular dysfunction and prognosis in juvenile osteochondritis dissecans of the knee: a single-center study.

Journal of orthopaedic surgery and research
2026

Shifts in type 2 vomeronasal receptor expression during postnatal development in the lungfish olfactory organ.

Journal of anatomy
2026

Experience Using Efgartigimod to Treat Juvenile Myasthenia Gravis in China: A Multicenter Retrospective Study.

Muscle & nerve
2026

Soluble factors released from fibroblast-like synoviocytes of JIA patients with future extended course can condition persistent JIA synovial fibroblasts for increased IL-6 production.

Arthritis research & therapy
2026

Review. Cell Biology and Immunohistochemical Evidence of the Transition Between an Aquatic to a Terrestrial-Waterproof Epidermis in the Archosaurian Alligator.

Journal of experimental zoology. Part B, Molecular and developmental evolution
2026

Impact of risperidone and voluntary exercise on ketone body metabolism-related gene expression in the brain of female juvenile rats.

Behavioural brain research
2026

Dynamics of domestic cat hepatitis B virus infection in juvenile cats.

Veterinary microbiology
2026

Object and tool manipulation diversity in an urban capuchin monkey (Sapajus libidinosus) group in Brasília National park.

Primates; journal of primatology
2026

Individual differences in inhibitory control may influence how endangered eels deal with river barriers during migration.

Animal cognition
2026

Mechanisms linking parents' education level to adolescent gaming disorder among Chinese Special School students: serial mediating effects of emotional abuse experience and psychopathy.

BMC psychology
2026

Earlier fracture union and earlier weight-bearing: arthroscopy-assisted versus open reduction with percutaneous K-wire fixation for juvenile Tillaux fractures.

BMC musculoskeletal disorders

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome CACH juvenil ou do adulto.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome CACH juvenil ou do adulto

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.
    European journal of pediatrics· 2026· PMID 41872624mais citado
  2. Reliability of durometry to assess firmness of calcinosis lesions in Juvenile and adult dermatomyositis.
    PloS one· 2026· PMID 41871052mais citado
  3. Autologous stem cell transplant for severe, progressive juvenile systemic sclerosis.
    Stem cells translational medicine· 2026· PMID 41866801mais citado
  4. Ultra-fast generation of all-female grass carp via transplantation of female germline stem cells into zebrafish.
    Science China. Life sciences· 2026· PMID 41866455mais citado
  5. Body growth and shape regulation by neuropeptides and other neuroactive peptides in insects.
    Current opinion in insect science· 2026· PMID 41864540mais citado
  6. Anti-PD-L1 therapy to prevent systemic immune suppression after polytraumatic brain injury in rats.
    J Trauma Acute Care Surg· 2026· PMID 41870894recente
  7. A proposal for the implementation of telemedicine in Japan for rheumatoid arthritis, juvenile idiopathic arthritis, and systemic lupus erythematosus: review article.
    Mod Rheumatol· 2026· PMID 41870492recente
  8. Pediatric Myasthenia Gravis.
    Int Ophthalmol Clin· 2026· PMID 41870109recente
  9. The Association between Type of Maltreatment and Placement Instability: The Influence of Runaway and Dual System Involvement.
    J Child Adolesc Trauma· 2026· PMID 41868644recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:157719(Orphanet)
  2. MONDO:0015521(MONDO)
  3. GARD:16980(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Q56013731(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

Compêndio · Raras BR

Síndrome CACH juvenil ou do adulto

ORPHA:157719 · MONDO:0015521
🇧🇷 Brasil SUS
Internações
890/ano
Prevalência BR
1:60000
Custo SUS
R$ 45.670/internação
Dados
DATASUS 2024
Geral
CID-10
E75.2 · Outras esfingolipidoses
CID-11
Início
Adolescent, Adult
MedGen
UMLS
C5680649
Wikidata
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