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Ocular albinism with congenital sensorineural deafness
1 OMIM reference -
2 associated genes
51 connected diseases
No signs/symptoms info
Disease Type of connection
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Minimal pigment oculocutaneous albinism type 1
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Papillary renal cell carcinoma
Temperature-sensitive oculocutaneous albinism type 1
Tietz syndrome
Waardenburg syndrome type 2
Translocation renal cell carcinoma
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Alveolar soft-part sarcoma
Berardinelli-Seip congenital lipodystrophy
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal dominant secondary polycythemia
Cerebellar ataxia - hypogonadism
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
X-linked dominant chondrodysplasia punctata
Oculocutaneous albinism type 3
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Distal 22q11.2 microdeletion syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Agnathia - holoprosencephaly - situs inversus
Alveolar rhabdomyosarcoma
Autosomal dominant nonsyndromic intellectual deficit
Combined pituitary hormone deficiencies, genetic forms
Craniofacial-deafness-hand syndrome
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Isolated anophthalmia - microphthalmia
Pilomatrixoma
Septo-optic dysplasia
Syndromic microphthalmia type 5
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MITF O75030156845
TYR P14679606933
No signs/symptoms info available.