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Minimal pigment oculocutaneous albinism type 1

MedGen UID:
1842241
•Concept ID:
C5679923
•
Disease or Syndrome
Synonyms: minimal pigment oculocutaneous albinism type 1; MP OCA type 1; OCA1-MP
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018136
Orphanet: ORPHA352734

Definition

An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMinimal pigment oculocutaneous albinism type 1

Recent clinical studies

Diagnosis

The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.
Toyofuku K, Wada I, Spritz RA, Hearing VJ
Biochem J 2001 Apr 15;355(Pt 2):259-69. doi: 10.1042/0264-6021:3550259. PMID: 11284711Free PMC Article

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