Genopathy
Gene-Disorder Association · Article
Gene
ACAT2
Acetyl-CoA Acetyltransferase 2
Disorder
Alpha-Methylacetoacetic Aciduria
First reported 1971
Supporting publications 1
Key publication · disorder A "new" disorder of isoleucine catabolism.Lancet (London, England) · 1971
Association Review

In brief

The association between ACAT2 (Acetyl-CoA Acetyltransferase 2) and Alpha-Methylacetoacetic Aciduria is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 58
Compounds 0
Trials 0
Publications 1
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

1 source

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

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03
ACAT2

The gene

1 source summary

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

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04
Alpha-Methylacetoacetic Aciduria

The disorder

16 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

46 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
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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07
Literature

Reading

1 publication

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

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08
Provenance

References & sources

9 references

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

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