PPKCA1
MCID: PLM158
MIFTS: 37
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Palmoplantar Keratoderma and Congenital Alopecia 1 (PPKCA1)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Palmoplantar Keratoderma and Congenital Alopecia 1:
Characteristics:Orphanet epidemiological data:58
autosomal dominant palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31
palmoplantar keratoderma and congenital alopecia 1:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Eye diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1010 Definition A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Epidemiology To date, ten individuals with a clinical diagnosis of autosomal dominant palmoplantar keratoderma and congenital alopecia (PPK-CA) have been reported. Clinical description Autosomal dominant PPK-CA usually presents during infancy. Its very early onset is often characterized by fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features which appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern, affecting the two sides of fingers and palms, but usually sparing the palmar sides. Periungueal involvement is typical, leading to secondary nail dystrophy. Autosomal dominant PPK-CA seems to have a more benign course than autosomal recessive PPK-CA (see this term). Etiology The genetic basis of autosomal dominant PPK-CA is unknown. Transmission appears to be autosomal dominant. Genetic counseling Transmission appears to be autosomal dominant. Visit the Orphanet disease page for more resources.
MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 1, also known as autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, is related to keratosis and hypotrichosis. An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 1 is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and palmoplantar hyperkeratosis Disease Ontology : 12 An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has material basis in heterozygous mutation in GJA1 on 6q22.31. OMIM : 56 Palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) is a rare autosomal dominant disorder characterized by severe hyperkeratosis and congenital alopecia. Nail changes occur in some patients (summary by Castori et al., 2010). Also see PPKCA2 (212360), an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. (104100) UniProtKB/Swiss-Prot : 73 Palmoplantar keratoderma and congenital alopecia 1: A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. |
Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 1:58 31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:104100MGI Mouse Phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 1:45
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Cochrane evidence based reviews: alopecia congenita keratosis palmoplantaris |
MalaCards organs/tissues related to Palmoplantar Keratoderma and Congenital Alopecia 1:40
Skin
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Articles related to Palmoplantar Keratoderma and Congenital Alopecia 1:
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ClinVar genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:6
UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:73
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Search
GEO
for disease gene expression data for Palmoplantar Keratoderma and Congenital Alopecia 1.
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Pathways related to Palmoplantar Keratoderma and Congenital Alopecia 1 according to GeneCards Suite gene sharing:
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Cellular components related to Palmoplantar Keratoderma and Congenital Alopecia 1 according to GeneCards Suite gene sharing:
Biological processes related to Palmoplantar Keratoderma and Congenital Alopecia 1 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Palmoplantar Keratoderma and Congenital Alopecia 1 according to GeneCards Suite gene sharing:
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