Palmoplantar Keratoderma and Congenital Alopecia 1 (PPKCA1)

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Disease Ontology 12 DOID:0111244 OMIM® 57 104100 MeSH 44 C537050 D000505 D007645 ICD10 via Orphanet 33 Q82.8 UMLS via Orphanet 71 C1863093

Orphanet 58 ORPHA1010 MedGen 41 C1863093 C3151468 SNOMED-CT via HPO 68 111202002 25159003 263681008 278040002 56317004 706885006 more UMLS 70 C1863093

GARD : ²⁰ 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.

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 1, also known as autosomal dominant palmoplantar keratoderma and congenital alopecia, is related to hypotrichosis and keratosis. 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® : ⁵⁷ 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² 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.

Clinical features from OMIM®:

104100 (Updated 05-Apr-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	9.62	GJB1
2	Decreased viability	GR00055-A-2	9.62	GJB1
3	Decreased viability	GR00240-S-1	9.62	GJA1
4	Decreased viability	GR00249-S	9.62	GJA5 GJB1 IVL SP1
5	Decreased viability	GR00381-A-1	9.62	ENTPD2
6	Decreased viability	GR00386-A-1	9.62	GJA8 GJB4 GJB5 GJB6 GJC3 IVL
7	Decreased viability	GR00402-S-2	9.62	ENTPD2 GJA4 GJB1 GJB2 SCN5A SP1

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma and Congenital Alopecia 1

Search GEO for disease gene expression data for Palmoplantar Keratoderma and Congenital Alopecia 1.