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Temperature-sensitive oculocutaneous albinism type 1

MedGen UID:
337736
Concept ID:
C1847132
Disease or Syndrome
Synonym: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
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).
 
Monarch Initiative: MONDO:0018137
OMIM®: 606933; 606952
Orphanet: ORPHA352737

Definition

An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Temperature-sensitive oculocutaneous albinism type 1

Recent clinical studies

Diagnosis

Gradstein L, Hansen RM, Cox GF, Altschwager P, Fulton AB
Doc Ophthalmol 2017 Apr;134(2):135-140. Epub 2017 Jan 31 doi: 10.1007/s10633-017-9574-1. PMID: 28144890
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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