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PPKCA2
MCID: PLM149
MIFTS: 44
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Palmoplantar Keratoderma and Congenital Alopecia 2 (PPKCA2)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Palmoplantar Keratoderma and Congenital Alopecia 2:
Characteristics:Orphanet epidemiological data:58
autosomal recessive palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
one family and 1 unrelated patient have been reported (last curated january 2011) onset of alopecia in infancy skin changes are progressive in childhood intelligence is normal HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Skin diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis |
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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: 1366 Definition Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts , progressive sclerodactyly and pseudo-ainhum. Epidemiology To date, autosomal recessive PPK-CA has been reported in two families (seven affected individuals). An additional sporadic patient was likely affected by the same condition. Clinical description Similarly to the dominant variant, autosomal recessive 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. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. Periungueal involvement is typical and leads to secondary nail dystrophy. Autosomal recessive PPK-CA shows a relatively more severe evolution compared to the dominant variant as many patients develop sclerodactyly, small joint contractures and pseudo-ainhum. The original family also had congenital cataract. Etiology The genetic basis of autosomal recessive PPK-CA is unknown. Genetic counseling Transmission appears to be autosomal recessive. Visit the Orphanet disease page for more resources.
MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 2, also known as cataract-alopecia-sclerodactyly syndrome, is related to bile duct cancer and pancreatic cancer, and has symptoms including dry skin An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 2 is DCAF8 (DDB1 And CUL4 Associated Factor 8), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and cholesterol biosynthesis III (via desmosterol). The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are cataract and joint stiffness Disease Ontology : 12 An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. OMIM : 56 Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010). Also see PPKCA1 (104100), a less severe, autosomal dominant disorder. (212360) |
Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 2:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:212360UMLS symptoms related to Palmoplantar Keratoderma and Congenital Alopecia 2:dry skin GenomeRNAi Phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:26
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Drugs for Palmoplantar Keratoderma and Congenital Alopecia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 17)
Cochrane evidence based reviews: cataract, alopecia, sclerodactyly |
MalaCards organs/tissues related to Palmoplantar Keratoderma and Congenital Alopecia 2:40
Skin,
Eye,
Bone,
Heart
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Articles related to Palmoplantar Keratoderma and Congenital Alopecia 2:
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Genes related to Palmoplantar Keratoderma and Congenital Alopecia 2 (0 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Palmoplantar Keratoderma and Congenital Alopecia 2.
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Cellular components related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:
Biological processes related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:
Molecular functions related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:
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