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GENATLAS PHENOTYPE
last update : 27-01-2009
Symbol HTC1
Location 8q24.11
HGNC id 5277
Name hypertrichosis universalis congenita, Ambras type
Other name(s) Ambras syndrome
Corresponding gene TRPS1
Other symbol(s) AS
Main clinical features
  • universal congenital hypertrichosis
  • whole body covered with fine long hair, except for areas where normally no hair grows
  • accompanying facial dysmorphism and teeth abnormalities, including retarded first and second dentition and absence of teeth
  • Genetic determination autosomal dominant
    Related entries TRPS1
    Function/system disorder dermatology
    Type malformation
    Gene product
    Name GATA transcription factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      breakpoint   several rearrangements with a breakpoint in 8q22q24
    Remark(s) a position effect downregulating TRPS1 expression is suggested