ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
15 signs/symptoms

Oculocutaneous albinism type 3

Oculocutaneous albinism type 1B


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TYRP1	(0.59)	TYR

Citations in the biomedical literature:

Oculocutaneous albinism type 3		Oculocutaneous albinism type 1B
	Synonym(s): - OCA3 - Red oculocutaneous albinism - Rufous oculocutaneous albinism - Xanthous oculocutaneous albinism		Synonym(s): - OCA1B - Oculocutaneous albinism type Amish - Platinum oculocutaneous albinism - Yellow oculocutaneous albinism

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 2 MeSH references: C537189 / C537731		External references: 1 OMIM reference - 1 MeSH reference: C537729


COMMON SIGNS	- Excessive freckling - Iris albinism / ocular albinism - Nystagmus - Strabismus / squint

Oculocutaneous albinism type 3		Oculocutaneous albinism type 1B
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies Frequent - Hair and scalp anomalies Occasional - Skin photosensitivity		Very frequent - Albinism (hair) - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal recessive inheritance - Diffuse / generalised skin hypopigmentation / cutaneous albinism Frequent - Macular dystrophy / absence / hypoplasia of the macula - Mild visual loss / impaired visual acuity - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Photophobia - Pigmented naevi / naevus pigmentosus / lentigo Occasional - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Thick skin / pachydermia / orange skin