PPKCA1
MCID: PLM158
MIFTS: 25

Palmoplantar Keratoderma and Congenital Alopecia 1 (PPKCA1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 58 76
Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome 58 76
Ppkca, Stevanovic Type 58 76
Ppkca1 58 76
Autosomal Dominant Palmoplantar Hyperkeratosis and Congenital Alopecia 60
Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 60
Palmoplantar Keratoderma and Congenital Alopecia, Stevanovic Type 60
Keratoderma, Palmoplantar, with Congenital Alopecia, Type 1 41
Palmoplantar Keratoderma with Congenital Alopecia 58
Ppk-Ca, Stevanovic Type 60

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

33
palmoplantar keratoderma and congenital alopecia 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 104100
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1863093
Orphanet 60 ORPHA1010

Summaries for Palmoplantar Keratoderma and Congenital Alopecia 1

OMIM : 58 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 eye, and related phenotypes are abnormality of skin pigmentation and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 76 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 11.4
2 palmoplantar keratoderma and congenital alopecia 2 11.1
3 nail disorder, nonsyndromic congenital, 3 10.6
4 hypotrichosis 10.6
5 leukonychia totalis 10.6

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

Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 1:

33 60 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of skin pigmentation 33 very rare (1%) HP:0001000
2 palmoplantar keratoderma 60 33 Very frequent (99-80%) HP:0000982
3 palmoplantar hyperkeratosis 60 33 Very frequent (99-80%) HP:0000972
4 alopecia 33 HP:0001596
5 nail dysplasia 33 HP:0002164
6 fingernail dysplasia 60 Frequent (79-30%)
7 congenital alopecia totalis 60 Very frequent (99-80%)
8 dystrophic fingernails 33 HP:0008391
9 brittle hair 33 HP:0002299
10 leukonychia 33 HP:0001820

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Skin, Eye

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 )
2015

Variations for Palmoplantar Keratoderma and Congenital Alopecia 1

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

76
# 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_000165.5(GJA1): c.23G> T (p.Gly8Val) single nucleotide variant Pathogenic rs864309644 GRCh38 Chromosome 6, 121446870: 121446870
2 GJA1 NM_000165.5(GJA1): c.23G> T (p.Gly8Val) single nucleotide variant Pathogenic rs864309644 GRCh37 Chromosome 6, 121768016: 121768016

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 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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