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Autosomal dominant isolated diffuse palmoplantar keratoderma

MedGen UID:: 1842287
•Concept ID:: C5680349
•: Disease or Syndrome

Synonym:	Autosomal dominant isolated diffuse palmoplantar hyperkeratosis

Orphanet:	ORPHA98349

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant isolated diffuse palmoplantar keratoderma

Autosomal dominant isolated diffuse palmoplantar keratoderma

Recent clinical studies

Etiology

Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25.

Ruhrberg C, Williamson JA, Sheer D, Watt FM
Genomics 1996 Nov 1;37(3):381-5. doi: 10.1006/geno.1996.0573. PMID: 8938451

Therapy

An unusual case of palmoplantar keratoderma.

Devos SA, Delescluse J
J Eur Acad Dermatol Venereol 2003 Jan;17(1):68-9. doi: 10.1046/j.1468-3083.2003.00515.x. PMID: 12602975

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Autosomal dominant isolated diffuse palmoplantar keratoderma
Autosomal dominant isolated diffuse palmoplantar keratoderma

MedGen
Decreased circulating carnitine concentration
Decreased circulating carnitine concentration

MedGen
C13h1orf21 similar to human chromosome 1 open reading frame 21 [Rattus norvegicu...
C13h1orf21 similar to human chromosome 1 open reading frame 21 [Rattus norvegicus]
Gene ID:289084

Gene

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