Details of Disease

General Information of Disease (ID: DISD1HF3)

Disease Name Oculocutaneous albinism type 1B
Synonyms
albinism, oculocutaneous, type IB; albinism, oculocutaneous, type 1B; Oca1-Ts; albinism, oculocutaneous, type I, temperature-sensitive; Yellow albinism; oculocutaneous albinism, type 1B; Yellow mutant albinism; oculocutaneous albinism type IB; platinum oculocutaneous albinism; Yellow oculocutaneous albinism; albinism, Yellow mutant type; oculocutaneous albinism, Amish type; OCA1B
Definition Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
Disease Hierarchy
DIS9AICT: Oculocutaneous albinism type 1A
DISD1HF3: Oculocutaneous albinism type 1B
Disease Identifiers
MONDO ID
MONDO_0011749
MESH ID
C537729
UMLS CUI
C1847024
OMIM ID
606952
MedGen ID
337712
Orphanet ID
79434
SNOMED CT ID
82342003

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 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TYR TTULVH8 Limited Biomarker [2]
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1 Oculocutaneous Albinism Type 1 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2000 Jan 19 [updated 2013 May 16].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.
2 Genetic background-dependent role of Egr1 for eyelid development.Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):E7131-E7139. doi: 10.1073/pnas.1705848114. Epub 2017 Aug 4.