PPKWH
MCID: PLM137
MIFTS: 33

Palmoplantar Keratoderma and Woolly Hair (PPKWH)

Categories: Genetic diseases, Rare diseases, Skin 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 73 29 6 71
Ppkwh 57 73
Woolly Hair-Palmoplantar Hyperkeratosis Syndrome 58
Woolly Hair-Palmoplantar Keratoderma Syndrome 58
Keratoderma, Palmoplantar, and Woolly Hair 39
Keratoderma with Woolly Hair Type Iv 58
Kwwh Type Iv 58

Characteristics:

Orphanet epidemiological data:

58
woolly hair-palmoplantar keratoderma syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
palmoplantar keratoderma and woolly hair:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 616099
MeSH 44 D007645
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA420686
SNOMED-CT via HPO 68 111202002 258211005 706885006
UMLS 71 C4015202

Summaries for Palmoplantar Keratoderma and Woolly Hair

UniProtKB/Swiss-Prot : 73 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 arrhythmogenic right ventricular dysplasia, familial, 11 and naxos disease. 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 heart, and related phenotypes are woolly scalp hair and palmoplantar keratoderma

More information 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 11 32.3 JUP DSP DSC2
2 naxos disease 31.4 JUP DSP DSC2
3 palmoplantar keratosis 30.2 JUP DSP DSC2
4 atrial standstill 1 30.2 JUP DSP DSC2
5 striate palmoplantar keratoderma 30.1 KANK2 DSP
6 arrhythmogenic right ventricular cardiomyopathy 30.0 JUP DSP DSC2
7 familial woolly hair syndrome 29.8 KANK2 JUP DSP DSC2
8 cardiomyopathy, dilated, with woolly hair and keratoderma 29.7 JUP DSP DSC2
9 palmoplantar keratoderma, nonepidermolytic 29.7 JUP DSP DSC2
10 skin fragility-woolly hair syndrome 11.8
11 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 10.3
12 unna-thost palmoplantar keratoderma 10.3
13 arrhythmogenic right ventricular dysplasia, familial, 12 9.9 JUP DSC2
14 grover's disease 9.8 JUP DSP
15 epidermolysis bullosa, lethal acantholytic 9.8 JUP DSP
16 diffuse palmoplantar keratoderma 9.8 JUP DSP
17 ectodermal dysplasia 9.8 DSP DSC2
18 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 DSP DSC2
19 arrhythmogenic right ventricular dysplasia, familial, 3 9.8 DSP DSC2
20 familial isolated arrhythmogenic right ventricular dysplasia 9.8 DSP DSC2
21 benign chronic pemphigus 9.8 JUP DSP
22 ritter's disease 9.8 DSP DSC2
23 pemphigus vulgaris, familial 9.8 JUP DSP
24 left bundle branch hemiblock 9.8 DSP DSC2
25 arrhythmogenic right ventricular dysplasia, familial, 2 9.7 DSP DSC2
26 lmna-related dilated cardiomyopathy 9.7 DSP DSC2
27 paraneoplastic pemphigus 9.7 DSP DSC2
28 cardiac arrhythmia 9.7 JUP DSP
29 bullous skin disease 9.7 DSP DSC2
30 cardiomyopathy, dilated, 1h 9.7 DSP DSC2
31 cardiomyopathy, dilated, 1a 9.7 DSP DSC2
32 hair disease 9.6 DSP DSC2
33 intrinsic cardiomyopathy 9.6 DSP DSC2
34 arrhythmogenic right ventricular dysplasia, familial, 4 9.5 JUP DSP DSC2
35 arrhythmogenic right ventricular dysplasia, familial, 6 9.5 JUP DSP DSC2
36 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.5 JUP DSP DSC2
37 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.5 JUP DSP DSC2
38 ectodermal dysplasia/skin fragility syndrome 9.5 JUP DSP DSC2
39 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.5 JUP DSP DSC2
40 arrhythmogenic right ventricular dysplasia, familial, 5 9.5 JUP DSP DSC2
41 arrhythmogenic right ventricular dysplasia, familial, 9 9.5 JUP DSP DSC2
42 arrhythmogenic right ventricular dysplasia, familial, 8 9.5 JUP DSP DSC2
43 catecholaminergic polymorphic ventricular tachycardia 9.5 DSP DSC2
44 arrhythmogenic right ventricular dysplasia, familial, 10 9.5 JUP DSP DSC2
45 darier-white disease 9.5 JUP DSP DSC2
46 pemphigus 9.5 JUP DSP DSC2
47 left ventricular noncompaction 9.5 JUP DSP DSC2
48 brugada syndrome 9.5 JUP DSP DSC2
49 dilated cardiomyopathy 9.4 JUP DSP DSC2
50 heart conduction disease 9.4 DSP DSC2

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

Human phenotypes related to Palmoplantar Keratoderma and Woolly Hair:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 woolly scalp hair 31 occasional (7.5%) HP:0040149
2 palmoplantar keratoderma 31 HP:0000982
3 sparse scalp hair 31 HP:0002209
4 sparse body hair 31 HP:0002231
5 sparse eyelashes 31 HP:0000653
6 leukonychia 31 HP:0001820
7 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Heart

Publications for Palmoplantar Keratoderma and Woolly Hair

Articles related to Palmoplantar Keratoderma and Woolly Hair:

(show all 19)
# Title Authors PMID Year
1
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. 57 61 6
24671081 2014
2
Evidence for extensive locus heterogeneity in Naxos disease. 57
11874502 2002
3
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 61
31073624 2019
4
Arrhythmogenic cardiomyopathy. 61
27038780 2016
5
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 61
25824144 2015
6
Anaesthesia in Naxos disease: first case report. 61
23448613 2013
7
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. 61
22949226 2012
8
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 61
21789513 2011
9
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. 61
20130592 2010
10
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 61
18957847 2009
11
Arrhythmogenic right ventricular cardiomyopathy/dysplasia. 61
18001465 2007
12
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. 61
16628197 2006
13
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 61
16467215 2006
14
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. 61
14675023 2003
15
Molecular mechanisms of inherited ventricular arrhythmias. 61
12574890 2002
16
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 61
11691526 2001
17
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 61
10902626 2000
18
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. 61
9738775 1998
19
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. 61
9610536 1998

Variations for Palmoplantar Keratoderma and Woolly Hair

ClinVar genetic disease variations for Palmoplantar Keratoderma and Woolly Hair:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KANK2 NM_001136191.3(KANK2):c.2009C>T (p.Ala670Val) SNV Pathogenic 158088 rs606231303 19:11285208-11285208 19:11174532-11174532

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

73
# Symbol AA change Variation ID SNP ID
1 KANK2 p.Ala670Val VAR_072431 rs606231303

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 JUP DSP DSC2
2 11.41 JUP DSP
3 11 JUP DSP
4 10.98 JUP DSP DSC2
5 10.66 JUP DSP

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 cell junction GO:0030054 9.54 JUP DSP DSC2
2 cell-cell junction GO:0005911 9.5 JUP DSP DSC2
3 intermediate filament GO:0005882 9.43 JUP DSP
4 adherens junction GO:0005912 9.4 JUP DSC2
5 intercalated disc GO:0014704 9.33 JUP DSP DSC2
6 fascia adherens GO:0005916 9.26 JUP DSP
7 cornified envelope GO:0001533 9.13 JUP DSP DSC2
8 desmosome GO:0030057 8.8 JUP DSP DSC2

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

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 JUP DSP
2 cell adhesion molecule binding GO:0050839 8.96 JUP DSP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 JUP DSP DSC2

Sources for Palmoplantar Keratoderma and Woolly Hair

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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