Genopathy
Gene-Disorder Association · Article
Gene
SC5D
Sterol-C5-Desaturase
Disorder
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
First reported 2002
Key publication · disorder Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.Archives of neurology · 2002
Manually curated
Association Review

In brief

The association between SC5D (Sterol-C5-Desaturase) and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 34
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
SC5D

The gene

1 source summary

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

Request access
04
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

22 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

6 references

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

Request access