Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness: genes and variants
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness is linked to 1 analyzed protein (MITF). 3 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MITF: Microphthalmia-associated transcription factor
3 disease-causing and 7 uncertain variants in MITF are linked to Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.
Known disease-causing variants in Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MITF E425K | 425 | DNA-binding regulation | Disease-causing (★★) |
| MITF K313N | 313 | bHLH | Disease-causing |
| MITF R324G | 324 | bHLH | Disease-causing |
Same protein, different disease
- Waardenburg syndrome is also caused by MITF variants; they fall mostly in different places as the Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness variants (10 disease-causing).
- Tietz syndrome is also caused by MITF variants; they fall mostly in different places as the Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness variants (3 disease-causing).
Diseases related to Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- Waardenburg syndrome, also linked to MITF
- Melanoma, cutaneous malignant, susceptibility to, 8, also linked to MITF
- Melanoma, also linked to MITF
- Tietz syndrome, also linked to MITF
Frequently asked questions
Which genes are linked to Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness?
In CATVariant, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness is linked to 1 analyzed protein: MITF (Microphthalmia-associated transcription factor).
How many genetic variants are linked to Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness?
11 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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