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Oculocutaneous albinism type 3

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital atransferrinemia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Oculocutaneous albinism type 3

Congenital atransferrinemia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TYRP1	(0.49)	TF

Citations in the biomedical literature:

Oculocutaneous albinism type 3		Congenital atransferrinemia
	Synonym(s): - OCA3 - Red oculocutaneous albinism - Rufous oculocutaneous albinism - Xanthous oculocutaneous albinism		Synonym(s): - Congenital hypotransferrinemia

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 2 MeSH references: C537189 / C537731		External references: 1 OMIM reference - 1 MeSH reference: C538259

Oculocutaneous albinism type 3		Congenital atransferrinemia
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Iris albinism / ocular albinism - Nystagmus Frequent - Excessive freckling - Hair and scalp anomalies - Strabismus / squint Occasional - Skin photosensitivity		Very frequent - Anaemia - Autosomal recessive inheritance Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Storage liver disease Occasional - Arthritis / synovitis / synovial proliferation - Hypothyroidy - Structural anomalies of the cardio-circulatory system - Structural anomalies of the pancreas