Genopathy
Gene-Disorder Association · Article
Gene
MCCC2
Methylcrotonyl-CoA Carboxylase Subunit 2
Disorder
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
First reported 2001
Supporting publications 22
Key publication · gene–disorder The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.The Journal of clinical investigation · 2001
Key publication · disorder Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.Lancet (London, England) · 1970
Manually curated
Association Review

In brief

The association between MCCC2 (Methylcrotonyl-CoA Carboxylase Subunit 2) and 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 63
Symptoms 38
Compounds 0
Trials 0
Publications 22
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

2 sources

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

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03
MCCC2

The gene

1 source summary

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

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04
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

The disorder

10 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

63 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

2 shared pathways

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

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08
Literature

Reading

22 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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