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Oculocutaneous albinism type 3
1 OMIM reference -
1 associated gene
6 connected diseases
7 signs/symptoms
Disease Type of connection
Minimal pigment oculocutaneous albinism type 1
Ocular albinism with congenital sensorineural deafness
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Temperature-sensitive oculocutaneous albinism type 1
Congenital atransferrinemia
Synonym(s):
- OCA3
- Red oculocutaneous albinism
- Rufous oculocutaneous albinism
- Xanthous oculocutaneous albinism
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare skin disease
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
External references:
1 OMIM reference -
2 MeSH references: C537189 / C537731
Gene symbol UniProt reference OMIM reference
TYRP1 P17643115501
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