Details of Disease

General Information of Disease (ID: DIS2U2VO)

Disease Name Minimal pigment oculocutaneous albinism type 1
Synonyms MP OCA type 1; OCA1-MP
Definition
Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
Disease Hierarchy
DISBKTWY: Oculocutaneous albinism type 1
DIS2U2VO: Minimal pigment oculocutaneous albinism type 1
Disease Identifiers
MONDO ID
MONDO_0018136
UMLS CUI
C5679923
MedGen ID
1842241
Orphanet ID
352734

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1 Oculocutaneous Albinism Type 1 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2000 Jan 19 [updated 2013 May 16].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.