Details of Disease

General Information of Disease (ID: DIS8V501)

Disease Name Temperature-sensitive oculocutaneous albinism type 1
Synonyms TS OCA type 1; OCA1-TS
Definition
Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).
Disease Hierarchy
DISBKTWY: Oculocutaneous albinism type 1
DIS8V501: Temperature-sensitive oculocutaneous albinism type 1
Disease Identifiers
MONDO ID
MONDO_0018137
MESH ID
C564645
UMLS CUI
C1847132
MedGen ID
337736
Orphanet ID
352737

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TYR OTX54MAA Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TYR TTULVH8 Supportive Autosomal recessive [1]
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References

1 Oculocutaneous Albinism Type 1 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2000 Jan 19 [updated 2013 May 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.