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GENATLAS PHENOTYPE
last update : 05-11-2011
Symbol MSSE
Location 9q22
HGNC id 7379
Name multiple self-healing squamous epithelioma
Other name(s)
  • Ferguson-Smith type (keratoacanthoma)
  • self-healing squamous epithelioma 1
  • Corresponding gene TGFBR1
    Other symbol(s) ESS1, KAR1
    Main clinical features
  • multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars, variety of multiple keratoacanthoma
  • unusual biphasic phenotype of the tumors, which grow and then heal (PMID: 21358634))
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Remark(s)
    Genotype/Phenotype correlations
  • one cluster of mutations lies in the region that encodes the cytoplasmic serine/threonine kinase domain and contains nonsense or frameshift mutations
  • second cluster contains missense mutations, or frameshift and nonsense mutations that are predicted to give short peptides, in the region that encodes the ligand-binding extracellular domain (PMID: 21358634))