Genopathy
Gene-Disorder Association · Article
Gene
NR1H4
Nuclear Receptor Subfamily 1 Group H Member 4
Disorder
Cholestasis, Progressive Familial Intrahepatic, 5
First reported 2016
Supporting publications 3
Key publication · gene–disorder Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.Nature communications · 2016
Key publication · disorder Increased cholesterol and decreased fluidity of red cell membranes (spur cell anemia) in progressive intrahepatic cholestasis.Pediatrics · 1981
Manually curated
Association Review

In brief

The association between NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4) and Cholestasis, Progressive Familial Intrahepatic, 5 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 16
Symptoms 28
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
NR1H4

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Cholestasis, Progressive Familial Intrahepatic, 5

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

14 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

16 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access