Genopathy
Gene-Disorder Association · Article
Gene
ALDH18A1
Aldehyde Dehydrogenase 18 Family Member A1
Disorder
Cataract
First reported 2000
Supporting publications 3
Key publication · gene–disorder Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.Human molecular genetics · 2000
Key publication · disorder Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.Confinia neurologica · 1950
Manually curated
Association Review

In brief

The association between ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1) and Cataract is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 3
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
ALDH18A1

The gene

1 source summary

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

Request access
04
Cataract

The disorder

8 database identifiers

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

Request access
05
Literature

Reading

3 publications

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

Request access
06
Provenance

References & sources

5 references

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

Request access