Genopathy
Gene-Disorder Association · Article
Gene
HMGCS2
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2
Disorder
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
First reported 2001
Supporting publications 18
Key publication · gene–disorder Genetic basis of mitochondrial HMG-CoA synthase deficiency.Human genetics · 2001
Key publication · disorder Isolation and sequence of the human farnesyl pyrophosphate synthetase cDNA. Coordinate regulation of the mRNAs for farnesyl pyrophosphate synthetase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and 3-hydroxy-3-methylglutaryl coenzyme A synthase by phorbol ester.The Journal of biological chemistry · 1990
Manually curated
Association Review

In brief

The association between HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2) and 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 239
Symptoms 31
Compounds 0
Trials 0
Publications 18
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

5 sources

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

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03
HMGCS2

The gene

1 source summary

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

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04
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency

The disorder

12 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

21 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

239 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

18 publications

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

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09
Provenance

References & sources

17 references

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

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