Genopathy
Gene-Disorder Association · Article
Gene
ALDH6A1
Aldehyde Dehydrogenase 6 Family Member A1
Disorder
Methylmalonate Semialdehyde Dehydrogenase Deficiency
First reported 2000
Supporting publications 8
Key publication · gene–disorder Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.Journal of inherited metabolic disease · 2000
Key publication · disorder Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.Journal of inherited metabolic disease · 1985
Manually curated
Association Review

In brief

The association between ALDH6A1 (Aldehyde Dehydrogenase 6 Family Member A1) and Methylmalonate Semialdehyde Dehydrogenase Deficiency is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 105
Symptoms 67
Compounds 0
Trials 0
Publications 8
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
ALDH6A1

The gene

1 source summary

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

Request access
04
Methylmalonate Semialdehyde Dehydrogenase Deficiency

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

38 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

105 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

8 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access