Genopathy
Gene-Disorder Association · Article
Gene
DCAF17
DDB1 And CUL4 Associated Factor 17
Disorder
Woodhouse-Sakati Syndrome
First reported 2007
Supporting publications 16
Key publication · gene–disorder Woodhouse-Sakati syndrome: case report and symptoms review.Genetic counseling (Geneva, Switzerland) · 2007
Key publication · disorder A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.Journal of medical genetics · 1983
Manually curated
Association Review

In brief

The association between DCAF17 (DDB1 And CUL4 Associated Factor 17) and Woodhouse-Sakati Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 484
Symptoms 87
Compounds 0
Trials 0
Publications 16
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

3 sources

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

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03
DCAF17

The gene

1 source summary

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

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04
Woodhouse-Sakati Syndrome

The disorder

9 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

55 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

484 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

16 publications

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

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09
Provenance

References & sources

16 references

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

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