Genopathy
Gene-Disorder Association · Article
Gene
MMACHC
Metabolism Of Cobalamin Associated C
Disorder
Disorders Of Intracellular Cobalamin Metabolism
First reported 1978
Supporting publications 15
Key publication · disorder A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian.The New England journal of medicine · 1978
Association Review

In brief

The association between MMACHC (Metabolism Of Cobalamin Associated C) and Disorders Of Intracellular Cobalamin Metabolism is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 97
Symptoms 0
Compounds 0
Trials 0
Publications 15
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
MMACHC

The gene

1 source summary

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

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04
Disorders Of Intracellular Cobalamin Metabolism

The disorder

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

97 clinical variants

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

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06
Literature

Reading

15 publications

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

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07
Provenance

References & sources

10 references

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

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