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cholestasis, intrahepatic, of pregnancy, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cholestasis, intrahepatic, of pregnancy, 3

MONDO:0013995

Also known as:cholestasis, intrahepatic, of pregnancy 3cholestasis, intrahepatic, of pregnancy type 3ICP3

Overview

GeneticsAutosomal recessive, Autosomal dominant · ABCB4 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Jaundice. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice
Lab test results

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ABCB4 encodes ATP binding cassette subfamily B member 4 (1,286 aa). Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Highest expression in Liver (28.7 TPM) and Adrenal Gland (6.1 TPM).

Cholestasis, intrahepatic, of pregnancy, 3 is associated with mutations in the ABCB4 gene on chromosome 7.

The ABCB4 protein participates in ABCB4 V571Dfs*16 and Expression of ABCB4 pathways.

ABCB4 is classified as a druggable target (Abc Transporter, Druggable Genome, Enzyme, and Transporter categories) with score 0.9.

114 pathogenic variants reported in ABCB4 in ClinVar, including hotspot variants 909965 and NP_000434.1:p.Asn510Ser (2-star review).

Variant

Diagnosis

Genetic testing for ABCB4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cholestasis, intrahepatic, of pregnancy, 3 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cholestasis, intrahepatic, of pregnancy, 3.

128 publications have been identified in PubMed for cholestasis, intrahepatic, of pregnancy, 3. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (27%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Disease patterns and progression	39	30%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614972

GARD

Genetic and Rare Diseases Info Center

GARD:15888

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

cholestasis, intrahepatic, of pregnancy, 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cholestasis, intrahepatic, of pregnancy, 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications