Genopathy
Gene-Disorder Association · Article
Gene
SDHA
Succinate Dehydrogenase Complex Flavoprotein Subunit A
Disorder
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
First reported 1981
Supporting publications 39
Key publication · disorder "Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases.Journal of the neurological sciences · 1981
Manually curated
Association Review

In brief

The association between SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) and Neurodegeneration With Ataxia And Late-Onset Optic Atrophy is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 131
Symptoms 43
Compounds 0
Trials 0
Publications 39
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
SDHA

The gene

1 source summary

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

Request access
04
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

29 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

131 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

39 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access