MCID: PLM137
MIFTS: 35

Palmoplantar Keratoderma and Woolly Hair

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Palmoplantar Keratoderma and Woolly Hair

MalaCards integrated aliases for Palmoplantar Keratoderma and Woolly Hair:

Name: Palmoplantar Keratoderma and Woolly Hair 57 75 29 6 73
Ppkwh 57 75
Woolly Hair-Palmoplantar Hyperkeratosis Syndrome 59
Woolly Hair-Palmoplantar Keratoderma Syndrome 59
Keratoderma, Palmoplantar, and Woolly Hair 40
Keratoderma with Woolly Hair Type Iv 59
Kwwh Type Iv 59

Characteristics:

Orphanet epidemiological data:

59
woolly hair-palmoplantar keratoderma syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder, with older patients exhibiting more severe symptoms
based on report of 2 consanguineous arab families (last curated november 2014)


HPO:

32
palmoplantar keratoderma and woolly hair:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 616099
Orphanet 59 ORPHA420686
ICD10 via Orphanet 34 Q82.8
MeSH 44 D007645
SNOMED-CT via HPO 69 258211005 706885006
UMLS 73 C4015202

Summaries for Palmoplantar Keratoderma and Woolly Hair

UniProtKB/Swiss-Prot : 75 Palmoplantar keratoderma and woolly hair: A disorder characterized by abnormal thickening of the skin on the palms and soles, in association with woolly scalp hair. Affected individuals manifest a variable degree of striate palmoplantar keratoderma, generally more severe on the soles. Leukonychia is more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes are sparse. The fifth toes show variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe.

MalaCards based summary : Palmoplantar Keratoderma and Woolly Hair, also known as ppkwh, is related to striate palmoplantar keratoderma and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma and Woolly Hair is KANK2 (KN Motif And Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Keratinization and Adhesion. Affiliated tissues include skin, and related phenotypes are sparse and thin eyebrow and sparse eyelashes

Description from OMIM: 616099

Related Diseases for Palmoplantar Keratoderma and Woolly Hair

Diseases related to Palmoplantar Keratoderma and Woolly Hair via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 striate palmoplantar keratoderma 30.3 DSP KANK2
2 palmoplantar keratosis 30.3 DSP JUP
3 arrhythmogenic right ventricular cardiomyopathy 29.0 DSC2 DSP JUP
4 naxos disease 29.0 DSC2 DSP JUP
5 skin fragility-woolly hair-palmoplantar keratoderma syndrome 12.4
6 arrhythmogenic right ventricular dysplasia, familial, 11 12.2
7 skin fragility-woolly hair syndrome 11.4
8 woolly hair syndrome 10.5
9 palmoplantar keratoderma, nonepidermolytic 10.2
10 unna-thost palmoplantar keratoderma 10.2
11 grover's disease 10.0 DSP JUP
12 epidermolysis bullosa, lethal acantholytic 9.9 DSP JUP
13 cardiomyopathy, dilated, with woolly hair and keratoderma 9.9 DSP JUP
14 arrhythmogenic right ventricular dysplasia, familial, 9 9.9 DSP JUP
15 arrhythmogenic right ventricular dysplasia, familial, 8 9.9 DSP JUP
16 benign chronic pemphigus 9.8 DSP JUP
17 darier-white disease 9.8 DSP JUP
18 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 DSP JUP
19 pemphigus vulgaris 9.7 DSP JUP
20 pemphigus 9.6 DSP JUP
21 paraneoplastic pemphigus 9.5 DSC2 DSP
22 left ventricular noncompaction 9.2 DSP JUP
23 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.0 DSC2 DSP JUP
24 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.0 DSC2 DSP JUP
25 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.0 DSC2 DSP JUP
26 ectodermal dysplasia/skin fragility syndrome 9.0 DSC2 DSP JUP
27 intrinsic cardiomyopathy 9.0 DSC2 DSP JUP
28 atrial standstill 1 9.0 DSC2 DSP JUP
29 dilated cardiomyopathy 8.5 DSC2 DSP JUP

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma and Woolly Hair:



Diseases related to Palmoplantar Keratoderma and Woolly Hair

Symptoms & Phenotypes for Palmoplantar Keratoderma and Woolly Hair

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sparse scalp hair
woolly scalp hair

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Skin Histology:
nonepidermolytic keratoderma
regular acanthosis
normal granular layer

Skin Nails Hair Hair:
sparse scalp hair
sparse body hair
woolly scalp hair (in some patients)

Skin Nails Hair Skin:
keratoderma, striated, on palms
keratoderma of soles at pressure points
pseudoainhum of fifth toes

Skin Nails Hair Nails:
leukonychia, more pronounced on fingernails than toenails


Clinical features from OMIM:

616099

Human phenotypes related to Palmoplantar Keratoderma and Woolly Hair:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sparse and thin eyebrow 32 HP:0000535
2 sparse eyelashes 32 HP:0000653
3 palmoplantar keratoderma 32 HP:0000982
4 sparse scalp hair 32 HP:0002209
5 sparse body hair 32 HP:0002231
6 woolly scalp hair 32 occasional (7.5%) HP:0040149

Drugs & Therapeutics for Palmoplantar Keratoderma and Woolly Hair

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma and Woolly Hair

Genetic Tests for Palmoplantar Keratoderma and Woolly Hair

Genetic tests related to Palmoplantar Keratoderma and Woolly Hair:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma and Woolly Hair 29 KANK2

Anatomical Context for Palmoplantar Keratoderma and Woolly Hair

MalaCards organs/tissues related to Palmoplantar Keratoderma and Woolly Hair:

41
Skin

Publications for Palmoplantar Keratoderma and Woolly Hair

Articles related to Palmoplantar Keratoderma and Woolly Hair:

# Title Authors Year
1
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. ( 18957847 )
2009
2
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. ( 16628197 )
2006
3
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). ( 10902626 )
2000
4
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. ( 9610536 )
1998

Variations for Palmoplantar Keratoderma and Woolly Hair

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma and Woolly Hair:

75
# Symbol AA change Variation ID SNP ID
1 KANK2 p.Ala670Val VAR_072431 rs606231303

ClinVar genetic disease variations for Palmoplantar Keratoderma and Woolly Hair:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KANK2 NM_001136191.2(KANK2): c.2009C> T (p.Ala670Val) single nucleotide variant Pathogenic rs606231303 GRCh38 Chromosome 19, 11174532: 11174532
2 KANK2 NM_001136191.2(KANK2): c.2009C> T (p.Ala670Val) single nucleotide variant Pathogenic rs606231303 GRCh37 Chromosome 19, 11285208: 11285208

Expression for Palmoplantar Keratoderma and Woolly Hair

Search GEO for disease gene expression data for Palmoplantar Keratoderma and Woolly Hair.

Pathways for Palmoplantar Keratoderma and Woolly Hair

Pathways related to Palmoplantar Keratoderma and Woolly Hair according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 DSC2 DSP JUP
2 11.41 DSP JUP
3
Show member pathways
11.2 DSC2 DSP JUP
4 11 DSP JUP
5 10.66 DSP JUP

GO Terms for Palmoplantar Keratoderma and Woolly Hair

Cellular components related to Palmoplantar Keratoderma and Woolly Hair according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 DSP JUP KANK2
2 cell junction GO:0030054 9.54 DSC2 DSP JUP
3 intermediate filament GO:0005882 9.43 DSP JUP
4 cell-cell junction GO:0005911 9.4 DSP JUP
5 cornified envelope GO:0001533 9.33 DSC2 DSP JUP
6 cell-cell adherens junction GO:0005913 9.32 DSC2 JUP
7 fascia adherens GO:0005916 9.26 DSP JUP
8 intercalated disc GO:0014704 9.13 DSC2 DSP JUP
9 desmosome GO:0030057 8.8 DSC2 DSP JUP

Biological processes related to Palmoplantar Keratoderma and Woolly Hair according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.5 DSC2 DSP JUP
2 cell-cell adhesion GO:0098609 9.43 DSP JUP
3 cornification GO:0070268 9.43 DSC2 DSP JUP
4 skin development GO:0043588 9.4 DSP JUP
5 adherens junction organization GO:0034332 9.37 DSP JUP
6 regulation of heart rate by cardiac conduction GO:0086091 9.33 DSC2 DSP JUP
7 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.13 DSC2 DSP JUP
8 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.8 DSC2 DSP JUP

Molecular functions related to Palmoplantar Keratoderma and Woolly Hair according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.16 DSP JUP
2 cell adhesion molecule binding GO:0050839 8.96 DSP JUP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSC2 DSP JUP

Sources for Palmoplantar Keratoderma and Woolly Hair

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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