Diffuse palmoplantar keratoderma - acrocyanosis syndrome

MedGen UID:: 929257
•Concept ID:: C4303588
•: Disease or Syndrome

Synonyms:	Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome; diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome; diffuse palmoplantar keratoderma - acrocyanosis syndrome; Diffuse palmoplantar keratoderma and acrocyanosis syndrome; Diffuse palmoplantar keratoderma-acrocyanosis syndrome
SNOMED CT:	Diffuse palmoplantar keratoderma and acrocyanosis syndrome (721096008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019489
Orphanet:	ORPHA86918

Definition

Syndrome with the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. [from SNOMEDCT_US]

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GTR
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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDiffuse palmoplantar keratoderma - acrocyanosis syndrome

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
- Diffuse palmoplantar keratoderma - acrocyanosis syndrome

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Diffuse palmoplantar keratoderma - acrocyanosis syndrome

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