Genopathy
Gene-Disorder Association · Article
Gene
SDHA
Succinate Dehydrogenase Complex Flavoprotein Subunit A
Disorder
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
First reported 1995
Supporting publications 87
Key publication · gene–disorder Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.Nature genetics · 1995
Key publication · disorder A regulatory system controlling the production of cytochrome aa3 in Neurospora crassa.Molecular & general genetics : MGG · 1978
Manually curated
Association Review

In brief

The association between SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) and Mitochondrial Complex Ii Deficiency, Nuclear Type 1 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 2,464
Symptoms 70
Compounds 0
Trials 0
Publications 87
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
Mitochondrial Complex Ii Deficiency, Nuclear Type 1

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

55 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

2,464 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

87 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