Genopathy
Gene-Disorder Association · Article
Gene
AGPAT2
1-Acylglycerol-3-Phosphate O-Acyltransferase 2
Disorder
Lipodystrophy, Congenital Generalized, Type 1
First reported 2002
Supporting publications 13
Key publication · gene–disorder AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.Nature genetics · 2002
Key publication · disorder Lipoatrophic diabetes.Glasgow medical journal · 1952
Manually curated
Association Review

In brief

The association between AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2) and Lipodystrophy, Congenital Generalized, Type 1 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 170
Symptoms 55
Compounds 0
Trials 0
Publications 13
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

5 sources

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

Request access
03
AGPAT2

The gene

1 source summary

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

Request access
04
Lipodystrophy, Congenital Generalized, 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

36 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

170 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

1 shared pathway

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

Request access
08
Literature

Reading

13 publications

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

Request access
09
Provenance

References & sources

20 references

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

Request access