Genopathy
Gene-Disorder Association · Article
Gene
MMADHC
Metabolism Of Cobalamin Associated D
Disorder
Methylmalonic Aciduria And Homocystinuria, Cbld Type
First reported 2008
Supporting publications 12
Key publication · gene–disorder Gene identification for the cblD defect of vitamin B12 metabolism.The New England journal of medicine · 2008
Key publication · disorder Homocystinuria with methylmalonic aciduria: two cases in a sibship.Biochemical medicine · 1970
Manually curated
Association Review

In brief

The association between MMADHC (Metabolism Of Cobalamin Associated D) and Methylmalonic Aciduria And Homocystinuria, Cbld Type 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 a causative germline mutation.

Sources 4
Clinical variants 319
Symptoms 48
Compounds 0
Trials 0
Publications 12
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

4 sources

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

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03
MMADHC

The gene

1 source summary

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

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04
Methylmalonic Aciduria And Homocystinuria, Cbld Type

The disorder

22 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

37 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

319 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

12 publications

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

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09
Provenance

References & sources

19 references

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

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