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DCWHK
MCID: CRD180
MIFTS: 53

Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma (DCWHK)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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MalaCards integrated aliases for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

Name: Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 57 73
Carvajal Syndrome 57 12 20 58 73 36 54 15
Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair 57 12 20 73
Dilated Cardiomyopathy with Woolly Hair and Keratoderma 12 29 13 6
Dcwhk 57 12 73
Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome 20 58
Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome 20 58
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome 20 58
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome 20 58
Cardiomyopathy Dilated with Woolly Hair and Keratoderma 20 71
Keratoderma with Woolly Hair Type Ii 20 58
Kwwh Type Ii 20 58
Epidermolytic Palmoplantar Keratoderma Woolly Hair and Dilated Cardiomyopathy 20
Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy 20
Cardiomyopathy, Dilated with Woolly Hair and Keratoderma 39

Characteristics:

Orphanet epidemiological data:

58
carvajal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
risk of death due to cardiac dysfunction


HPO:

31
cardiomyopathy, dilated, with woolly hair and keratoderma:
Onset and clinical course death in early adulthood death in adolescence
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Oral diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0090128
OMIM® 57 605676
KEGG 36 H02094
MeSH 44 D002311
UMLS via Orphanet 72 C1854063
Orphanet 58 ORPHA65282
MedGen 41 C1854063
UMLS 71 C1854063
Sources

Summaries for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 65282DefinitionA syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.EpidemiologyOnly a few cases have been reported, all involving patients from Ecuador, India or Turkey.Clinical descriptionThe woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The dilated cardiomyopathy may lead to life-threatening congestive heart failure.EtiologyThe syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion.Differential diagnosisThe syndrome is similar to Naxos disease (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma, also known as carvajal syndrome, is related to palmoplantar keratoderma and woolly hair and striate palmoplantar keratoderma, and has symptoms including clubbing of nail An important gene associated with Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma is DSP (Desmoplakin), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart and skin, and related phenotypes are dilated cardiomyopathy and woolly hair

Disease Ontology : 12 A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the desmoplakin gene on chromosome 6p24.

KEGG : 36 Carvajal syndrome is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair, and palmoplantar keratoma. Carvajal syndrome is considered as a variant of Naxos disease. It is caused by homozygous mutation in the gene coding for desmoplakin. Recently, the autosomal dominant phenotype associated with leukonychia and oligodontia was reported.

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated, with woolly hair and keratoderma: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.

More information from OMIM: 605676
Sources

Related Diseases for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Diseases related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 30.2 JUP DSP DSC2
2 striate palmoplantar keratoderma 30.2 DSP DSG1
3 keratosis 30.1 GJA1 DSP DSG4 DSG2 DSG1
4 atrial standstill 1 30.0 TMEM43 RYR2 PKP2 JUP DSP DSG2
5 palmoplantar keratosis 29.7 PKP2 PKP1 JUP GJA1 DSP DSG2
6 left bundle branch hemiblock 29.6 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
7 dilated cardiomyopathy 29.2 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
8 arrhythmogenic right ventricular cardiomyopathy 28.9 TMEM43 TGFB3 RYR2 PKP3 PKP2 JUP
9 left ventricular noncompaction 28.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
10 familial woolly hair syndrome 28.0 TMEM43 TGFB3 RYR2 PPL PKP3 PKP2
11 palmoplantar keratoderma, nonepidermolytic 27.9 TMEM43 RYR2 PKP3 PKP2 PKP1 JUP
12 naxos disease 27.9 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
13 keratoderma with woolly hair 11.0
14 grover's disease 10.3 JUP DSP
15 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
16 left ventricular noncompaction 1 10.3 PKP2 JUP
17 anomalous left coronary artery from the pulmonary artery 10.2 PKP2 GJA1
18 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSP DSG1
19 cardiomyopathy, dilated, 1h 10.2 TMEM43 DSP DSC2
20 cardiomyopathy, dilated, 1a 10.2 TMEM43 DSP DSC2
21 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 RYR2 PKP2 DSP
22 tinea imbricata 10.2 PKP3 DSG1
23 tooth agenesis 10.1
24 diffuse palmoplantar keratoderma 10.1 JUP DSP DSG1
25 familial isolated arrhythmogenic right ventricular dysplasia 10.1 TMEM43 PKP2 DSP DSC2
26 ectodermal dysplasia/skin fragility syndrome 10.1 PKP1 JUP DSP DSC2
27 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
28 acute diffuse nephritis 10.1 TGFB3 DSG1
29 cardiac arrest 10.1 RYR2 DSP DSG2
30 cardiac arrhythmia 10.1 RYR2 PKP2 JUP DSP
31 dystonia 3, torsion, x-linked 10.1 DSC3 DSC2
32 long qt syndrome 1 10.0 RYR2 PKP2 DSP DSG2
33 palmoplantar keratoderma, epidermolytic 9.9 PKP1 DSP DSG4 DSG1
34 pseudomembranous conjunctivitis 9.9 PPL DSP DSG1
35 atrioventricular block 9.9
36 first-degree atrioventricular block 9.9
37 papillon-lefevre syndrome 9.9
38 periodontitis, aggressive, 1 9.9
39 cardiac conduction defect 9.9
40 progressive familial heart block, type ia 9.9
41 cervical neuroblastoma 9.9
42 angular cheilitis 9.9
43 common cold 9.9
44 root resorption 9.9
45 cheilitis 9.9
46 epidermolysis bullosa 9.9
47 neuroblastoma 9.9
48 periodontitis 9.9
49 unna-thost palmoplantar keratoderma 9.9
50 pemphigus vegetans 9.9 PPL DSG1 DSC3

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:



Diseases related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma
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Symptoms & Phenotypes for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Human phenotypes related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 very rare (1%) Very frequent (99-80%) HP:0001644
2 woolly hair 58 31 very rare (1%) Very frequent (99-80%) HP:0002224
3 patchy palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0005588
4 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
5 palmoplantar keratoderma 31 very rare (1%) HP:0000982
6 ventricular tachycardia 31 very rare (1%) HP:0004756
7 reduced number of teeth 31 HP:0009804
8 edema 31 HP:0000969
9 clubbing of fingers 31 HP:0100759
10 cardiomyocyte hypertrophy 31 HP:0031319

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
papillomatosis
dyskeratosis
epidermal edema
epidermolytic hyperkeratosis
more
Skin Nails Hair Hair:
woolly hair

Skin Nails Hair Nails:
clubbed nails

Skin Nails Hair Skin:
palmoplantar keratoderma
striated keratoderma of palms
focal keratoderma of soles
striated lichenoid keratoses in major flexural folds
follicular keratosis on elbows and knees
more
Cardiovascular Heart:
cardiomyocyte hypertrophy
heart failure
cardiomyopathy, dilated
decreased contractility
low voltage on electrocardiogram
more

Clinical features from OMIM®:

605676 (Updated 05-Mar-2021)

UMLS symptoms related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:


clubbing of nail

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 CTNNA3 DSC2 DSG2 DSP GJA1 GREM2
2 immune system MP:0005387 10.11 DSC1 DSG2 DSG4 DSP GJA1 GREM2
3 mortality/aging MP:0010768 10.07 CTNNA3 DSC3 DSG2 DSG4 DSP GJA1
4 integument MP:0010771 10.06 DSC1 DSC3 DSG1 DSG2 DSG4 DSP
5 muscle MP:0005369 9.7 CTNNA3 DSG2 DSP GJA1 JUP PKP2
6 normal MP:0002873 9.56 DSC1 DSC3 GJA1 JUP PKP3 PPL
7 vision/eye MP:0005391 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSP
Sources

Drugs & Therapeutics for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Genetic Tests for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Genetic tests related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy with Woolly Hair and Keratoderma 29 DSP
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Anatomical Context for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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MalaCards organs/tissues related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

40
Heart, Skin
Sources

Publications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Articles related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. 61 6 57
23137101 2013
2
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 6 57
11063735 2000
3
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. 6
26604139 2016
4
When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy. 57
24460197 2014
5
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. 6
22795705 2012
6
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. 6
20940358 2011
7
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. 6
16628197 2006
8
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 6
16467215 2006
9
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. 57
11443548 2001
10
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. 57
9887343 1999
11
Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. 57
9864371 1998
12
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. 57
9738775 1998
13
Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly. 6
8769422 1996
14
Structure of the human desmoplakins. Implications for function in the desmosomal plaque. 57
1689290 1990
15
Skin and heart: une liaison dangereuse. 61 54
19558499 2009
16
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications. 61 54
17045679 2007
17
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61 54
16175511 2005
18
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. 61 54
15210133 2004
19
Structural and molecular pathology of the heart in Carvajal syndrome. 61 54
14761782 2004
20
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review. 61
33132336 2020
21
Desmosomal protein regulation and clinical implications in oral mucosal tissues. 61
32794499 2020
22
A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl. 61
30079965 2019
23
Novel desmoplakin mutations in familial Carvajal syndrome. 61
30944905 2018
24
Arrhythmogenic right ventricular dysplasia, cutaneous manifestations and desmoplakin mutation: Carvajal syndrome. 61
30345701 2018
25
A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome. 61
29256881 2017
26
Electrical Storm or Naxos Syndrome in an Adult Causing Recurrent Syncope. 61
28492156 2017
27
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis. 61
26833927 2016
28
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). 61
28649555 2016
29
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 61
28329610 2016
30
Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction. 61
27617069 2016
31
Carvajal Syndrome. 61
27127386 2016
32
Carvajal syndrome with oligodontia, hypoacusis, recurrent infections, and noncompaction. 61
26599742 2016
33
Cardiac sarcoidosis with severe involvement of the right ventricle: a case report. 61
26894046 2015
34
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 61
25824144 2015
35
A Nine-Year-Old Girl With Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome). 61
26396705 2015
36
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. 61
25430408 2015
37
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. 61
25516398 2015
38
Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges. 61
25548613 2014
39
HeartWare LVAD implantation in a patient with a rare ARVD: Carvajal syndrome. 61
25044388 2014
40
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 61
23863954 2013
41
Variant Carvajal syndrome with additional dental anomalies. 61
22404234 2012
42
Evidence for genetic heterogeneity in Carvajal syndrome. 61
22350851 2012
43
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. 61
22949226 2012
44
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 61
21789513 2011
45
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). 61
20486455 2010
46
Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. 61
19067702 2009
47
Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome). 61
18313016 2008
48
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). 61
17998464 2007
49
Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome. 61
17125858 2007
50
Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal syndrome. 61
16494708 2006
Sources

Variations for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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ClinVar genetic disease variations for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma:

6 (show top 50) (show all 912)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP):c.7780del (p.Ser2594fs) Deletion Pathogenic 60561 rs397514045 6:7585273-7585273 6:7585040-7585040
2 DSP NM_004415.4(DSP):c.3891_3894dup (p.Met1299fs) Duplication Pathogenic 802189 rs1581816570 6:7580313-7580314 6:7580080-7580081
3 DSP NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) SNV Pathogenic 16845 rs121912997 6:7580222-7580222 6:7579989-7579989
4 DSP NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) Duplication Pathogenic 157671 rs606231293 6:7571729-7571730 6:7571496-7571497
5 DSP NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) SNV Pathogenic 157672 rs606231294 6:7571704-7571704 6:7571471-7571471
6 DSP NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) SNV Pathogenic 157673 rs606231295 6:7570786-7570786 6:7570553-7570553
7 DSP NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) SNV Pathogenic 246677 rs879254353 6:7585665-7585665 6:7585432-7585432
8 DSP NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) SNV Pathogenic 372127 rs1554107098 6:7571779-7571779 6:7571546-7571546
9 DSP NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) SNV Pathogenic 372125 rs1184921987 6:7571761-7571761 6:7571528-7571528
10 DSP NM_004415.4(DSP):c.1853A>C (p.His618Pro) SNV Pathogenic 372126 rs1554107096 6:7571767-7571767 6:7571534-7571534
11 DSP NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) Deletion Pathogenic 246676 rs879254352 6:7585570-7585573 6:7585337-7585340
12 DSP NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) Deletion Pathogenic 405232 rs774763657 6:7583174-7583177 6:7582941-7582944
13 DSP NM_004415.4(DSP):c.268C>T (p.Gln90Ter) SNV Pathogenic 265102 rs886039343 6:7556048-7556048 6:7555815-7555815
14 DSP NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) Duplication Pathogenic 199923 rs1554108152 6:7580155-7580156 6:7579922-7579923
15 DSP NM_004415.4(DSP):c.478C>T (p.Arg160Ter) SNV Pathogenic 44922 rs397516943 6:7559514-7559514 6:7559281-7559281
16 DSP NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) SNV Pathogenic 405247 rs746877365 6:7579760-7579760 6:7579527-7579527
17 DSP NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) SNV Pathogenic 464961 rs1554108012 6:7579556-7579556 6:7579323-7579323
18 DSP NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) SNV Pathogenic 44914 rs397516940 6:7580954-7580954 6:7580721-7580721
19 DSP NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) SNV Pathogenic 222582 rs869025395 6:7583346-7583346 6:7583113-7583113
20 DSP NM_004415.4(DSP):c.5460dup (p.Val1821fs) Duplication Pathogenic 464966 rs1554108609 6:7582952-7582953 6:7582719-7582720
21 DSP NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) Microsatellite Pathogenic 464956 rs1249913357 6:7567600-7567601 6:7567367-7567368
22 DSP NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) SNV Pathogenic 464962 rs772646601 6:7579771-7579771 6:7579538-7579538
23 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 6:7562986-7562986 6:7562753-7562753
24 DSP NM_004415.4(DSP):c.1162del (p.Thr388fs) Deletion Pathogenic 464957 rs1554106742 6:7568035-7568035 6:7567802-7567802
25 DSP NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) Microsatellite Pathogenic 464968 rs1487814687 6:7583160-7583161 6:7582927-7582928
26 DSP NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) Deletion Pathogenic 16844 rs397514040 6:7583585-7583586 6:7583352-7583353
27 DSP NM_004415.4(DSP):c.1182del (p.Leu395fs) Deletion Pathogenic 464958 rs1554106743 6:7568052-7568052 6:7567819-7567819
28 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Pathogenic 199916 rs794728137 6:7565740-7565741 6:7565507-7565508
29 DSP NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) SNV Pathogenic 534275 rs1554108477 6:7581692-7581692 6:7581459-7581459
30 DSP NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) SNV Pathogenic 534281 rs1236464864 6:7580818-7580818 6:7580585-7580585
31 DSP NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) SNV Pathogenic 534283 rs28763965 6:7580795-7580795 6:7580562-7580562
32 DSP NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) Indel Pathogenic 452266 rs1554108410 6:7581305-7581309 6:7581072-7581076
33 DSP NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) SNV Pathogenic 199890 rs794728124 6:7581635-7581635 6:7581402-7581402
34 DSP NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) Microsatellite Pathogenic 565543 rs1561702771 6:7584076-7584077 6:7583843-7583844
35 DSP NM_004415.4(DSP):c.1282dup (p.Ile428fs) Duplication Pathogenic 565816 rs1561687796 6:7568681-7568682 6:7568448-7568449
36 DSP NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) Indel Pathogenic 566602 rs1561680649 6:7558404-7558405 6:7558171-7558172
37 DSP NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) SNV Pathogenic 489339 rs1554108050 6:7579664-7579664 6:7579431-7579431
38 DSP NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) Deletion Pathogenic 570298 rs1561698362 6:7580458-7580462 6:7580225-7580229
39 DSP NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) Duplication Pathogenic 570474 rs1561697181 6:7579712-7579713 6:7579479-7579480
40 DSP NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) SNV Pathogenic 488983 rs1554108431 6:7581422-7581422 6:7581189-7581189
41 DSP NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) SNV Pathogenic 162505 rs140474226 6:7580603-7580603 6:7580370-7580370
42 DSP NM_004415.4(DSP):c.7075del (p.Ile2359fs) Deletion Pathogenic 571455 rs1561703363 6:7584570-7584570 6:7584337-7584337
43 DSP NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) SNV Pathogenic 572718 rs1561693779 6:7575588-7575588 6:7575355-7575355
44 DSP NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) Indel Pathogenic 572780 rs1561696970 6:7579549-7579550 6:7579316-7579317
45 DSP NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) Microsatellite Pathogenic 569376 rs1561701401 6:7583265-7583266 6:7583032-7583033
46 DSP NM_004415.4(DSP):c.7872_7873CA[1] (p.Thr2625fs) Microsatellite Pathogenic 574161 rs1561704475 6:7585366-7585367 6:7585133-7585134
47 DSP NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) SNV Pathogenic 199903 rs141026028 6:7583991-7583991 6:7583758-7583758
48 DSP NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) SNV Pathogenic 576091 rs1561698750 6:7580780-7580780 6:7580547-7580547
49 DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Pathogenic 180326 rs730880082 6:7577219-7577219 6:7576986-7576986
50 DSP NM_004415.4(DSP):c.6466dup (p.Arg2156fs) Duplication Pathogenic 419496 rs1554108859 6:7583960-7583961 6:7583727-7583728
Sources

Expression for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Search GEO for disease gene expression data for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma.
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Pathways for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Pathways related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.15 PPL PKP3 PKP2 PKP1 JUP DSP
2
Keratinization 65
Show member pathways
 11.86 PPL PKP3 PKP2 PKP1 JUP DSP
3
Apoptotic cleavage of cellular proteins 65
Show member pathways
 11.77 PKP1 DSP DSG2 DSG1
4
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.74 RYR2 PKP2 JUP GJA1 DSP DSG2
5
Adhesion 4
11.7 JUP GJA1 DSP
6
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.7 PPL PKP2 PKP1 DSP
7
Antiarrhythmic Pathway, Pharmacodynamics 60
11.37 RYR2 JUP GJA1 DSP
8
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
11.06 JUP GJA1 DSP CTNNA3
Sources

GO Terms for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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Cellular components related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.34 TGFB3 RYR2 PPL PKP3 PKP2 PKP1
2 cell junction GO:0030054 10.07 PPL PKP3 PKP2 PKP1 JUP GJA1
3 intermediate filament GO:0005882 9.89 PPL PKP2 PKP1 JUP DSP
4 adherens junction GO:0005912 9.88 PKP3 PKP2 PKP1 JUP DSC2 CTNNA3
5 cell-cell junction GO:0005911 9.85 PKP3 PKP2 JUP DSP DSG4 DSG2
6 intercalated disc GO:0014704 9.8 PKP2 JUP GJA1 DSP DSG2 DSC2
7 ficolin-1-rich granule membrane GO:0101003 9.78 PKP1 DSP DSG1 DSC1
8 desmosome GO:0030057 9.73 PPL PKP3 PKP2 PKP1 JUP DSP
9 lateral plasma membrane GO:0016328 9.69 JUP DSG2 DSG1
10 fascia adherens GO:0005916 9.67 JUP GJA1 DSP CTNNA3
11 messenger ribonucleoprotein complex GO:1990124 9.63 PKP3 PKP2 PKP1
12 cornified envelope GO:0001533 9.4 PPL PKP3 PKP2 PKP1 JUP DSP

Biological processes related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.11 PKP3 PKP2 PKP1 JUP DSG4 DSG2
2 neutrophil degranulation GO:0043312 9.96 PKP1 JUP DSP DSG1 DSC1
3 cell-cell adhesion GO:0098609 9.93 PKP3 PKP2 PKP1 JUP DSP DSG4
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.91 DSG4 DSG2 DSG1 DSC3 DSC2 DSC1
5 regulation of heart rate by cardiac conduction GO:0086091 9.88 PKP2 JUP DSP DSG2 DSC2 CTNNA3
6 cell-cell junction assembly GO:0007043 9.8 PKP3 PKP2 PKP1 DSG1
7 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.8 PKP2 JUP DSP DSG2 DSC2 CTNNA3
8 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.8 RYR2 PKP2 JUP DSP DSG2 DSC2
9 wound healing GO:0042060 9.76 TGFB3 PPL DSP
10 BMP signaling pathway GO:0030509 9.74 TGFB3 GREM2 DSG4
11 cornification GO:0070268 9.73 PPL PKP3 PKP2 PKP1 JUP DSP
12 response to progesterone GO:0032570 9.71 TGFB3 DSG2 DSG1
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 RYR2 PKP2 GJA1
14 desmosome organization GO:0002934 9.65 PKP2 DSP DSG2
15 desmosome assembly GO:0002159 9.63 PKP3 PKP2 JUP
16 intermediate filament cytoskeleton organization GO:0045104 9.6 PPL DSP
17 ventricular cardiac muscle cell action potential GO:0086005 9.59 RYR2 PKP2
18 epithelial cell-cell adhesion GO:0090136 9.58 DSP CTNNA3
19 intermediate filament bundle assembly GO:0045110 9.55 PKP2 PKP1
20 negative regulation of mRNA catabolic process GO:1902373 9.52 PKP3 PKP1
21 keratinization GO:0031424 9.4 PPL PKP3 PKP2 PKP1 JUP DSP

Molecular functions related to Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.87 RYR2 DSG4 DSG2 DSG1 DSC3 DSC2
2 cadherin binding GO:0045296 9.63 PPL PKP3 PKP2 PKP1 JUP CTNNA3
3 cell adhesion molecule binding GO:0050839 9.56 PKP3 JUP DSP DSG2
4 gamma-catenin binding GO:0045295 9.4 DSG1 DSC3
5 intermediate filament binding GO:0019215 9.37 PKP2 PKP1
6 alpha-catenin binding GO:0045294 9.13 PKP3 PKP2 JUP
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2
Sources

Sources for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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