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Ocular albinism with congenital sensorineural deafness

1 OMIM reference -
2 associated genes
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Ocular albinism with congenital sensorineural deafness

Tietz syndrome

MITF	(UniProt - OMIM)		MITF	(UniProt - OMIM)
TYR	(UniProt - OMIM)


COMMON GENES	MITF

Citations in the biomedical literature:

Ocular albinism with congenital sensorineural deafness		Tietz syndrome
	Synonym(s): - Waardenburg syndrome type 2 with ocular albinism		Synonym(s): - Hypopigmentation-deafness syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536919

Tietz syndrome
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / decreased / thin eyebrows - Anterior chamber anomaly - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hearing loss / hypoacusia / deafness
Ocular albinism with congenital sensorineural deafness
(no data available)