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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Oculocutaneous albinism type 3
Temperature-sensitive oculocutaneous albinism type 1

TYRP1 TYR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Oculocutaneous albinism type 3
TYRP1
Temperature-sensitive oculocutaneous albinism type 1
TYR



Oculocutaneous albinism type 3
Temperature-sensitive oculocutaneous albinism type 1

Synonym(s):
- OCA3
- Red oculocutaneous albinism
- Rufous oculocutaneous albinism
- Xanthous oculocutaneous albinism

Synonym(s):
- OCA1-TS
- TS OCA type 1

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 / 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 -
No MeSH references

Oculocutaneous albinism type 3

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


Temperature-sensitive oculocutaneous albinism type 1

(no data available)