Genopathy
Gene-Disorder Association · Article
Gene
AKR1D1
Aldo-Keto Reductase Family 1 Member D1
Disorder
Bile Acid Synthesis Defect, Congenital, 2
First reported 1996
Supporting publications 10
Key publication · gene–disorder Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid.Gut · 1996
Key publication · disorder Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.The Journal of clinical investigation · 1988
Manually curated
Association Review

In brief

The association between AKR1D1 (Aldo-Keto Reductase Family 1 Member D1) and Bile Acid Synthesis Defect, Congenital, 2 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 116
Symptoms 45
Compounds 0
Trials 0
Publications 10
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

5 sources

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

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03
AKR1D1

The gene

1 source summary

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

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04
Bile Acid Synthesis Defect, Congenital, 2

The disorder

12 database identifiers

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

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05
Phenotype

Clinical features

30 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

116 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

10 publications

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

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09
Provenance

References & sources

17 references

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

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