ODCs

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

COMMON GENES: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Ocular albinism with congenital sensorineural deafness

Oculocutaneous albinism type 1A

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

Citations in the biomedical literature:

Ocular albinism with congenital sensorineural deafness		Oculocutaneous albinism type 1A
	Synonym(s): - Waardenburg syndrome type 2 with ocular albinism		Synonym(s): - OCA1A - Tyrosinase-negative oculocutaneous albinism

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

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

Oculocutaneous albinism type 1A
	Very frequent - Autosomal recessive inheritance - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Iris albinism / ocular albinism - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Photophobia - Retinal albinism Frequent - Abnormal VEP / Visual evoked potential - Excessive freckling - Mild visual loss / impaired visual acuity - Optic nerve anomaly / optic atrophy / anomaly of the papilla Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
Ocular albinism with congenital sensorineural deafness
(no data available)