Genopathy
Gene-Disorder Association · Article
Gene
HSD17B3
Hydroxysteroid 17-Beta Dehydrogenase 3
Disorder
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
First reported 1971
Supporting publications 40
Key publication · disorder Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo.The Journal of clinical endocrinology and metabolism · 1971
Manually curated
Association Review

In brief

The association between HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3) and 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 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 67
Symptoms 23
Compounds 0
Trials 0
Publications 40
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

5 sources

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

Request access
03
HSD17B3

The gene

1 source summary

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

Request access
04
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

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

15 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

67 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

40 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access