Palmoplantar keratoderma-deafness syndrome

Synonyms

Diffuse palmoplantar keratoderma with deafness (subtype); Focal palmoplantar keratoderma with sensorineural deafness (subtype); Hereditary palmoplantar keratoderma with deafness (subtype); Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Palmoplantar keratoderma and sensorineural deafness

Modes of inheritance

Autosomal dominant 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.

(Orphanet)
Mitochondrial inheritance

Mitochondrial inheritance

MedGen UID: 165802, Concept ID: C0887941, Genetic Function

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).

(Orphanet)