MCID: ATS068
MIFTS: 13

Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

MalaCards integrated aliases for Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia:

Name: Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 54
Autosomal Dominant Palmoplantar Hyperkeratosis and Congenital Alopecia 54
Palmoplantar Keratoderma and Congenital Alopecia, Stevanovic Type 54
Alopecia Congenita with Hyperkeratosis of the Palms and Soles 54
Ppk-Ca, Stevanovic Type 54

Classifications:



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ICD10 34 L63.9
SNOMED-CT via HPO 70 706885006

Summaries for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1010Disease definitionAutosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.EpidemiologyTo date, ten individuals with a clinical diagnosis of autosomal dominant PPK-CA have been reported.Clinical descriptionAutosomal 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).EtiologyThe genetic basis of autosomal dominant PPK-CA is unknown. Transmission appears to be autosomal dominant.Genetic counselingTransmission appears to be autosomal dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia, also known as autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, is related to palmoplantar keratoderma and congenital alopecia 1. Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and congenital alopecia totalis

Related Diseases for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

Diseases in the Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia family:

Palmoplantar Keratoderma and Congenital Alopecia 1 Palmoplantar Keratoderma and Congenital Alopecia 2
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

Diseases related to Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and congenital alopecia 1 11.5

Symptoms & Phenotypes for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

Human phenotypes related to Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia:

33
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 33 hallmark (90%) HP:0000982
2 congenital alopecia totalis 33 hallmark (90%) HP:0005597
3 palmoplantar hyperkeratosis 33 hallmark (90%) HP:0000972
4 fingernail dysplasia 33 frequent (33%) HP:0100798

Drugs & Therapeutics for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

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

Genetic Tests for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

Anatomical Context for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

MalaCards organs/tissues related to Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia:

42
Skin

Publications for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

Variations for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

Expression for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

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

Pathways for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

GO Terms for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

Sources for Autosomal Dominant Palmoplantar Keratoderma and Congenital...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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