Genopathy
Gene-Disorder Association · Article
Gene
ALDH5A1
Aldehyde Dehydrogenase 5 Family Member A1
Disorder
Succinic Semialdehyde Dehydrogenase Deficiency
First reported 1998
Supporting publications 49
Key publication · gene–disorder Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).American journal of human genetics · 1998
Key publication · disorder Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduria, somnolence and seizures.The New England journal of medicine · 1966
Manually curated
Association Review

In brief

The association between ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1) and Succinic Semialdehyde Dehydrogenase 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 761
Symptoms 59
Compounds 0
Trials 0
Publications 49
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

5 sources

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

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03
ALDH5A1

The gene

1 source summary

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

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04
Succinic Semialdehyde Dehydrogenase Deficiency

The disorder

10 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

35 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

761 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

1 shared pathway

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

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08
Literature

Reading

49 publications

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

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09
Provenance

References & sources

19 references

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

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