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Síndrome Dubin-Johnson
ORPHA:234CID-10 · E80.6CID-11 · 5C58.02OMIM 237500DOENÇA RARA

A Síndrome de Dubin-Johnson (SDJ) é uma condição genética e benigna (que não é grave) do fígado. Ela se caracteriza por um aumento crônico (constante) de bilirrubina (uma substância amarela) no sangue, principalmente daquele tipo que já foi processado pelo fígado. Além disso, ao examinar as células do fígado ao microscópio, observa-se um depósito de um pigmento de cor marrom-escura.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Dubin-Johnson (SDJ) é uma condição genética e benigna (que não é grave) do fígado. Ela se caracteriza por um aumento crônico (constante) de bilirrubina (uma substância amarela) no sangue, principalmente daquele tipo que já foi processado pelo fígado. Além disso, ao examinar as células do fígado ao microscópio, observa-se um depósito de um pigmento de cor marrom-escura.

Publicações científicas
484 artigos
Último publicado: 2026 Jan-Dec

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adolescent
+ adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E80.6
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
4 sintomas
🩸
Sangue
1 sintomas
🫘
Rins
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Icterícia
Muito frequente (99-80%)
90%prev.
Hiperbilirrubinemia conjugada
Muito frequente (99-80%)
90%prev.
Anormalidade do fígado
Muito frequente (99-80%)
90%prev.
Anormalidade do trato biliar
Muito frequente (99-80%)
90%prev.
Coloração urinária anormal
Muito frequente (99-80%)
55%prev.
Anormalidade da mucosa gástrica
Frequente (79-30%)
12sintomas
Muito frequente (5)
Frequente (1)
Ocasional (5)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

IcteríciaJaundice
Muito frequente (99-80%)90%
Hiperbilirrubinemia conjugadaConjugated hyperbilirubinemia
Muito frequente (99-80%)90%
Anormalidade do fígadoAbnormality of the liver
Muito frequente (99-80%)90%
Anormalidade do trato biliarBiliary tract abnormality
Muito frequente (99-80%)90%
Coloração urinária anormalAbnormal urinary color
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico484PubMed
Últimos 10 anos83publicações
Pico202213 papers
Linha do tempo
2026Hoje · 2026🧪 2011Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

ABCC2ATP-binding cassette sub-family C member 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

ATP-dependent transporter of the ATP-binding cassette (ABC) family that binds and hydrolyzes ATP to enable active transport of various substrates including many drugs, toxicants and endogenous compound across cell membranes. Transports a wide variety of conjugated organic anions such as sulfate-, glucuronide- and glutathione (GSH)-conjugates of endo- and xenobiotics substrates (PubMed:10220572, PubMed:10421658, PubMed:11500505, PubMed:16332456). Mediates hepatobiliary excretion of mono- and bis-

LOCALIZAÇÃO

Apical cell membrane

VIAS BIOLÓGICAS (5)
Heme degradationABC-family proteins mediated transportParacetamol ADMEAspirin ADMEAtorvastatin ADME
MECANISMO DE DOENÇA

Dubin-Johnson syndrome

Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function.

OUTRAS DOENÇAS (1)
Dubin-Johnson syndrome
HGNC:53UniProt:Q92887

Variantes genéticas (ClinVar)

246 variantes patogênicas registradas no ClinVar.

🧬 ABCC2: NM_000392.5(ABCC2):c.2027G>A (p.Gly676Glu) ()
🧬 ABCC2: NM_000392.5(ABCC2):c.2026G>A (p.Gly676Arg) ()
🧬 ABCC2: NM_000392.5(ABCC2):c.2291G>A (p.Gly764Asp) ()
🧬 ABCC2: NM_000392.5(ABCC2):c.3843+1G>T ()
🧬 ABCC2: GRCh37/hg19 10q23.1-25.1(chr10:87456174-107789979)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 218 variantes classificadas pelo ClinVar.

142
76
Patogênica (65.1%)
VUS (34.9%)
VARIANTES MAIS SIGNIFICATIVAS
ABCC2: NM_000392.5(ABCC2):c.2291G>A (p.Gly764Asp) [Likely pathogenic]
ABCC2: NM_000392.5(ABCC2):c.3843+1G>T [Likely pathogenic]
ABCC2: NM_000392.5(ABCC2):c.3921_3925dup (p.Tyr1309fs) [Likely pathogenic]
ABCC2: NM_000392.5(ABCC2):c.364C>T (p.Gln122Ter) [Likely pathogenic]
ABCC2: NM_000392.5(ABCC2):c.2439+5G>A [Conflicting classifications of pathogenicity]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome Dubin-Johnson

🗺️

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
85 papers (10 anos)
#1

Genetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.

BMJ case reports2026 Mar 23

Isolated hyperbilirubinaemia with normal liver enzymes is frequently attributed to Gilbert syndrome, but predominance of conjugated bilirubin warrants evaluation for inherited disorders of bilirubin transport. We report a genetically confirmed case of Dubin-Johnson syndrome in a young adult with a 10-year history of intermittent jaundice and persistently conjugated hyperbilirubinaemia, despite normal liver biochemistry and imaging. Extensive evaluation excluded haemolysis, viral hepatitis, autoimmune liver disease and structural biliary pathology. Targeted genetic testing identified a homozygous loss-of-function variant in the ABCC2 gene, establishing the diagnosis. The patient required no specific treatment and remained clinically stable on follow-up. This case emphasises the importance of recognising Dubin-Johnson syndrome in long-standing conjugated hyperbilirubinaemia and the role of genetic testing in avoiding unnecessary invasive investigations in this benign, non-progressive condition.

#2

ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.

Journal of clinical and translational hepatology2026 Jan 28

ATP-binding cassette (ABC) transporters are transmembrane proteins involved in the translocation of bilirubin, bile acids, phospholipids, and cholesterol into bile canaliculi. Mutations in particular genes encoding these transporters-including BSEP (ABCB11 gene), MDR3 (ABCB4 gene), sterolin-1 and sterolin-2 (ABCG5/8 genes), and MRP2 (ABCC2 gene)-result in a wide spectrum of liver diseases, ranging from benign conditions such as Dubin-Johnson syndrome to more severe presentations like progressive familial intrahepatic cholestasis. The severity of disease is influenced by many factors, including zygosity, mutation type, and environmental modifiers such as hormones, consanguinity, and founder effects. Homozygous and compound heterozygous mutations typically result in severe and early-onset diseases, while heterozygous single-allelic mutants generally result in milder diseases. Next-generation genetic testing has proven to have high diagnostic value and is important for prognostication. With knowledge of the underlying specific mutations, there is also potential for future targeted therapy for many severe diseases. The aim of this review is to update and discuss the hepatic diseases associated with ABC transporter mutations, the genetic and environmental effects that influence the severity of disease, typical presentations of these cholestatic hepatic diseases, diagnostic considerations, and treatment options.

#3

Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).

Journal of clinical and translational hepatology2026 Jan 28

To support clinicians in making informed decisions regarding the diagnosis and management of inherited hyperbilirubinemia, including Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome, the Inherited and Metabolic Liver Disease Collaboration Group of the Hepatology Branch of the Chinese Medical Association convened a panel of Chinese experts in this field. This multidisciplinary consortium developed the present expert consensus by integrating the latest advances in both clinical practice and basic research.

#4

A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease.

Scandinavian journal of gastroenterology2026 Feb 02

Dubin-Johnson Syndrome (DJS; OMIM 237500) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC2 gene, encoding for the multidrug resistance protein 2 (MRP2), resulting in impeded biliary excretion of bilirubin metabolites. It is typically characterized by chronic or intermittent jaundice and conjugated hyperbilirubinemia. We report the case of a 54-year-old male with hyperbilirubinemia (mostly conjugated) and hypertransaminasemia. Hypertransaminasemia was due to presence of Metabolic dysfunction-associated fatty liver disease (MASLD), while whole-genome sequencing revealed a homozygous missense variant affecting ABCC2 (c.3893G > A, p.Gly1298Asp), a previously undescribed variant likely linked to hyperbilirubinemia. It is an extremely rare genetic variant (allele frequency = 6.2 × 10-7). In silico analyses predicted the variant to be highly pathogenic (CADD score 29; AlphaMissense score 0.978; PhyloP 8.87; DynaMut ΔΔG = -0.765 kcal·mol-1 and ΔΔSVib = -0.234 kcal·mol-1·K-1). Structural modeling suggested no gross conformational changes but potential effects local conformation and overall function of the protein. We describe a novel ABCC2 mutation associated with Dubin-Johnson Syndrome. This finding expands the spectrum of ABCC2 variants to evaluate in case of hyperbilirubinemia and highlights the importance of genetic testing in unexplained cases of conjugated hyperbilirubinemia.

#5

When Birth Control Turns Biliary: A Rare Case of Profound Hyperbilirubinemia From Oral Contraceptives.

Journal of investigative medicine high impact case reports2026

Oral contraceptives (OCs) are extensively utilized and generally considered safe (reference); nonetheless, infrequent hepatobiliary complications such as cholestasis and hyperbilirubinemia have been documented, particularly among individuals with a genetic predisposition. We present a case involving a 19-year-old female who exhibited significant conjugated hyperbilirubinemia shortly after the commencement of OC therapy. Comprehensive investigations ruled out alternative causes, and the findings from liver biopsy, in conjunction with the clinical context, indicated an estrogen-induced cholestatic injury, likely revealing an underlying Dubin-Johnson syndrome. This case underscores the critical necessity of acknowledging hepatic adverse effects associated with estrogen as well as the influence of genetic susceptibility in drug-related adverse events.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC360 artigos no totalmostrando 81

2026

When Birth Control Turns Biliary: A Rare Case of Profound Hyperbilirubinemia From Oral Contraceptives.

Journal of investigative medicine high impact case reports
2026

Genetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.

BMJ case reports
2026

ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.

Journal of clinical and translational hepatology
2026

Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).

Journal of clinical and translational hepatology
2026

A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease.

Scandinavian journal of gastroenterology
2026

Development of a Physiologically Based Model of Bilirubin Metabolism in Health and Disease and Its Comparison With Real-World Data.

CPT: pharmacometrics &amp; systems pharmacology
2026

PFOS-induced black liver and hepatic aging in mice: A new paradigm in environmental hepatotoxicology.

Environment international
2025

Dubin-Johnson Syndrome: An Eight-Year Retrospective Clinicopathological Review from a North Indian Tertiary Center.

Journal of clinical and experimental hepatology
2025

How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis?

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
2025

p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function.

Acta medica Indonesiana
2025

[Expert consensus on the diagnosis and therapy of inherited hyperbilirubinemia (version 2025)].

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

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.

Molecular syndromology
2025

A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome.

BMC medical genomics
2025

[Clinical and molecular genetic analysis of nine patients with neonatal Dubin-Johnson syndrome].

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

An Incidental Finding of an Indigo-Blue Liver in a Patient With Dubin-Johnson Syndrome Confirmed via Genetic Testing.

Cureus
2024

ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation.

eGastroenterology
2024

Patterns and unique features of infantile cholestasis among Arabs.

Frontiers in pediatrics
2024

Case Report: A case of Dubin-Johnson syndrome in a newborn.

Frontiers in pediatrics
2024

Structural basis for the transport and regulation mechanism of the Multidrug resistance-associated protein 2.

bioRxiv : the preprint server for biology
2024

Structural basis for the modulation of MRP2 activity by phosphorylation and drugs.

Nature communications
2024

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Journal of gastroenterology and hepatology
2024

Transport mechanism of human bilirubin transporter ABCC2 tuned by the inter-module regulatory domain.

Nature communications
2024

Clinical characteristics and follow-up of a newborn with Dubin-Johnson Syndrome: A clinical case report.

Medicine
2023

Excessive vincristine exposure in a child being treated for acute lymphoblastic leukaemia with underlying Dubin-Johnson syndrome: a case report.

Cancer chemotherapy and pharmacology
2023

Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
2023

Hyperbilirubinemia in a Patient With Sepsis: A Diagnostic Challenge.

ACG case reports journal
2023

Dubin-Johnson Syndrome: A Case Report.

Cureus
2023

Differentiating Neonatal Dubin Johnson Syndrome from Biliary Atresia: Start Simply.

Journal of clinical and translational hepatology
2022

Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.

International journal of molecular sciences
2023

Neonatal Dubin-Johnson Syndrome and its Differentiation from Biliary Atresia.

Journal of clinical and translational hepatology
2023

Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.

Journal of human genetics
2022

[The phenotypes and genotypes of four patients with Dubin-Johnson syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Rotor Syndrome Presenting as Dubin-Johnson Syndrome.

Case reports in gastroenterology
2022

Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin-Johnson syndrome.

Frontiers in genetics
2022

[Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.

World journal of clinical cases
2022

Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia-A narrative review.

United European gastroenterology journal
2022

Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family.

Frontiers in pediatrics
2022

In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.

Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology
2022

A case of true vocal fold jaundice.

American journal of otolaryngology
2022

Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.

JPGN reports
2022

Clinical characteristics and liver profiles of Dubin-Johnson syndrome in neonates: Multicenter retrospective study.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2021

Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin-Johnson Syndrome in a Large Case Series From the Arabs.

Frontiers in pediatrics
2021

[Clinical and pathological features of Dubin-Johnson syndrome].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2021

Literature review and report of three cases of Dubin-Johnson syndrome related to ABCC2 gene mutations in children.

American journal of translational research
2022

Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.

Pediatric research
2021

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.

Clinica chimica acta; international journal of clinical chemistry
2021

Dubin-Johnson syndrome as a laparoscopic finding.

Revista espanola de enfermedades digestivas
2021

Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature.

World journal of clinical cases
2021

Dubin-Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis.

Journal of pediatric gastroenterology and nutrition
2021

A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2021

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
2020

Dubin-Johnson syndrome coexisting with glucose-6-phosphate dehydrogenase deficiency presenting after acute viral hepatitis.

JPMA. The Journal of the Pakistan Medical Association
2020

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.

BMC pediatrics
2020

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Orphanet journal of rare diseases
2020

Dubin-Johnson Syndrome Presenting During Cardiac Transplantation Evaluation.

Cureus
2019

Laparoscopic cholecystectomy for cholecystolithiasis with Dubin-Johnson syndrome.

JGH open : an open access journal of gastroenterology and hepatology
2019

Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.

World journal of clinical cases
2020

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.

Liver international : official journal of the International Association for the Study of the Liver
2019

Adult Coats' Disease, Dubin-Johnson Syndrome, and the Search for Targeted Therapies.

Ophthalmic surgery, lasers &amp; imaging retina
2019

A Case of Dubin-Johnson Syndrome in Pregnancy.

Cureus
2019

[Diagnosis of a patient with Dubin-Johnson syndrome by using next generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2019

[Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2018

[Clinical and pathological features of inherited metabolic liver disease in adults].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2019

Dubin-Johnson syndrome in Tunisia: Spectrum of a rare disease.

Presse medicale (Paris, France : 1983)
2018

Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome.

Experimental and therapeutic medicine
2018

Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy.

Clinical genetics
2018

Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.

Journal of pediatric genetics
2018

Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.

The Journal of pediatrics
2018

Hepatobiliary and Pancreatic: A black liver of Dubin-Johnson syndrome.

Journal of gastroenterology and hepatology
2017

Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing.

Revista espanola de enfermedades digestivas
2017

Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.

BMC research notes
2017

Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemia.

Molecular medicine reports
2017

A Time-Dependent Model Describes Methotrexate Elimination and Supports Dynamic Modification of MRP2/ABCC2 Activity.

Therapeutic drug monitoring
2016

Histopathologic Findings in Autopsies with Emphasis on Interesting and Incidental Findings-A Pathologist's Perspective.

Journal of clinical and diagnostic research : JCDR
2016

IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome.

The New England journal of medicine
2016

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

The Journal of pediatrics
2016

Inherited disorders of bilirubin clearance.

Pediatric research
2017

Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.

American journal of therapeutics
2016

Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.

European journal of human genetics : EJHG
2015

Treatment for tuberculosis in a patient with Dubin-Johnson syndrome.

BMJ case reports
Ver todos os 360 no EuropePMC

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Genetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.
    BMJ case reports· 2026· PMID 41871897mais citado
  2. ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.
    Journal of clinical and translational hepatology· 2026· PMID 41659993mais citado
  3. Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
    Journal of clinical and translational hepatology· 2026· PMID 41659992mais citado
  4. A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease.
    Scandinavian journal of gastroenterology· 2026· PMID 41622857mais citado
  5. When Birth Control Turns Biliary: A Rare Case of Profound Hyperbilirubinemia From Oral Contraceptives.
    Journal of investigative medicine high impact case reports· 2026· PMID 41873646mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:234(Orphanet)
  2. OMIM OMIM:237500(OMIM)
  3. MONDO:0009380(MONDO)
  4. GARD:2793(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1263039(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 Dubin-Johnson

ORPHA:234 · MONDO:0009380
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
E80.6 · Outros distúrbios do metabolismo da bilirrubina
CID-11
Início
Adolescent, Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0022350
EuropePMC
Wikidata
Wikipedia
Papers 10a
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