Genopathy
Gene-Disorder Association · Article
Gene
MCCC1
Methylcrotonyl-CoA Carboxylase Subunit 1
Disorder
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
First reported 1997
Supporting publications 36
Key publication · gene–disorder Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.Brain & development · 1997
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 MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1) and 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 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 768
Symptoms 38
Compounds 0
Trials 0
Publications 36
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
MCCC1

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

21 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

768 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

2 shared pathways

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

Request access
08
Literature

Reading

36 publications

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

Request access
09
Provenance

References & sources

19 references

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

Request access