Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

MedGen UID:: 894571
•Concept ID:: C4273986
•: Disease or Syndrome

Synonyms:	Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type; hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type; Hereditary palmoplantar keratoderma Gamborg Nielsen type; hereditary palmoplantar keratoderma, Gamborg-Nielsen type; palmoplantar keratoderma, Norrbotten recessive type; PPK, Gamborg-Nielsen type; PPKNR
SNOMED CT:	Hereditary palmoplantar keratoderma Gamborg Nielsen type (717228004)
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:0009489
Orphanet:	ORPHA86923

Definition

The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. [from SNOMEDCT_US]