Genopathy
Gene-Disorder Association · Article
Gene
ALDH18A1
Aldehyde Dehydrogenase 18 Family Member A1
Disorder
Cutis Laxa, Autosomal Dominant 3
First reported 2015
Supporting publications 23
Key publication · gene–disorder Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.American journal of human genetics · 2015
Key publication · disorder [Familial amyloidosis, Finnish type with marked anhidrosis].Rinsho shinkeigaku = Clinical neurology · 1996
Manually curated
Association Review

In brief

The association between ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1) and Cutis Laxa, Autosomal Dominant 3 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 551
Symptoms 61
Compounds 0
Trials 0
Publications 23
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
ALDH18A1

The gene

1 source summary

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

Request access
04
Cutis Laxa, Autosomal Dominant 3

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

33 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

551 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

23 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