Genopathy
Gene-Disorder Association · Article
Gene
MITF
Melanocyte Inducing Transcription Factor
Disorder
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
First reported 2016
Supporting publications 5
Key publication · gene–disorder Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.American journal of human genetics · 2016
Key publication · disorder A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance.American journal of human genetics · 1963
Manually curated
Association Review

In brief

The association between MITF (Melanocyte Inducing Transcription Factor) and Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 35
Symptoms 36
Compounds 0
Trials 0
Publications 5
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
MITF

The gene

1 source summary

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

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04
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness

The disorder

8 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

35 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

5 publications

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

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09
Provenance

References & sources

12 references

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

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