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Autosomal dominant diffuse mutilating palmoplantar keratoderma

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Orphanet: ORPHA307773

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant diffuse mutilating palmoplantar keratoderma

Recent clinical studies


Pessach Y, Jammal A, Gat A, Martinez H, Ellenbogen E, Sprecher E, Goldberg I
Acta Dermatovenerol Croat 2021 Apr;291(1):39-41. PMID: 34477062


Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F
Dermatol Online J 2011 Mar 15;17(3):3. PMID: 21426869

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