PPKCA1
MCID: PLM158
MIFTS: 24

Palmoplantar Keratoderma and Congenital Alopecia 1 (PPKCA1)

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

Aliases & Classifications for Palmoplantar Keratoderma and Congenital Alopecia 1

MalaCards integrated aliases for Palmoplantar Keratoderma and Congenital Alopecia 1:

Name: Palmoplantar Keratoderma and Congenital Alopecia 1 57 75
Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome 57 75
Ppkca, Stevanovic Type 57 75
Ppkca1 57 75
Autosomal Dominant Palmoplantar Hyperkeratosis and Congenital Alopecia 59
Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 59
Palmoplantar Keratoderma and Congenital Alopecia, Stevanovic Type 59
Keratoderma, Palmoplantar, with Congenital Alopecia, Type 1 40
Palmoplantar Keratoderma with Congenital Alopecia 57
Ppk-Ca, Stevanovic Type 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

32
palmoplantar keratoderma and congenital alopecia 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 104100
Orphanet 59 ORPHA1010
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C1863093

Summaries for Palmoplantar Keratoderma and Congenital Alopecia 1

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)

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 1, also known as keratoderma-hypotrichosis-leukonychia totalis syndrome, is related to autosomal dominant palmoplantar keratoderma and congenital alopecia and palmoplantar keratoderma and congenital alopecia 2. An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 1 is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include skin, and related phenotypes are palmoplantar hyperkeratosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Palmoplantar Keratoderma and Congenital Alopecia 1

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 Palmoplantar Keratoderma and Congenital Alopecia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant palmoplantar keratoderma and congenital alopecia 11.2
2 palmoplantar keratoderma and congenital alopecia 2 10.9
3 nail disorder, nonsyndromic congenital, 3 10.5
4 hypotrichosis 10.5
5 leukonychia totalis 10.5

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma and Congenital Alopecia 1:



Diseases related to Palmoplantar Keratoderma and Congenital Alopecia 1

Symptoms & Phenotypes for Palmoplantar Keratoderma and Congenital Alopecia 1

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
palmoplantar keratosis
pigmentary changes on the shins (1 patient)
focal palmoplantar keratoderma on weight-bearing areas
transgradient palmoplantar keratoderma on dorsal hands and feet
hyperkeratosis of perianal areas, auricles, knuckles, knees, and ankles
more
Skin Nails Hair Nails:
leukonychia totalis
dystrophic nails, mild

Skin Nails Hair Skin Histology:
orthohyperkeratosis
follicular plugging
perivascular lymphocytic infiltration in papillary dermis

Skin Nails Hair Hair:
alopecia, congenital
sparse, short, brittle hair on scalp
scant body hair
multiple pits on electron microscopy
cuticular weathering on electron microscopy


Clinical features from OMIM:

104100

Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 1:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar hyperkeratosis 59 32 Very frequent (99-80%) HP:0000972
2 palmoplantar keratoderma 59 Very frequent (99-80%)
3 alopecia 32 HP:0001596
4 nail dysplasia 32 HP:0002164
5 abnormality of skin pigmentation 32 very rare (1%) HP:0001000
6 fingernail dysplasia 59 Frequent (79-30%)
7 congenital alopecia totalis 59 Very frequent (99-80%)
8 dystrophic fingernails 32 HP:0008391

Drugs & Therapeutics for Palmoplantar Keratoderma and Congenital Alopecia 1

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

Genetic Tests for Palmoplantar Keratoderma and Congenital Alopecia 1

Anatomical Context for Palmoplantar Keratoderma and Congenital Alopecia 1

MalaCards organs/tissues related to Palmoplantar Keratoderma and Congenital Alopecia 1:

41
Skin

Publications for Palmoplantar Keratoderma and Congenital Alopecia 1

Articles related to Palmoplantar Keratoderma and Congenital Alopecia 1:

# Title Authors Year
1
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )
2015
2
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 25168385 )
2014

Variations for Palmoplantar Keratoderma and Congenital Alopecia 1

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:

75
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Gly8Val VAR_075754 rs864309644

ClinVar genetic disease variations for Palmoplantar Keratoderma and Congenital Alopecia 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.23G> T (p.Gly8Val) single nucleotide variant Pathogenic rs864309644 GRCh37 Chromosome 6, 121768016: 121768016
2 GJA1 NM_000165.4(GJA1): c.23G> T (p.Gly8Val) single nucleotide variant Pathogenic rs864309644 GRCh38 Chromosome 6, 121446870: 121446870

Expression for Palmoplantar Keratoderma and Congenital Alopecia 1

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

Pathways for Palmoplantar Keratoderma and Congenital Alopecia 1

GO Terms for Palmoplantar Keratoderma and Congenital Alopecia 1

Sources for Palmoplantar Keratoderma and Congenital Alopecia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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