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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).
Autosomal recessive inheritance (Orphanet)
 
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  
  • CROGVTemperature-sensitive oculocutaneous albinism type 1

Recent clinical studies

Diagnosis

Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
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
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

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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