DCWHK
MCID: CRD180
MIFTS: 49

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

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

Aliases & Classifications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

Name: Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 57 75
Carvajal Syndrome 57 12 53 59 75 37 55
Dilated Cardiomyopathy with Woolly Hair and Keratoderma 12 29 13 6 15
Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair 57 12 53 75
Cardiomyopathy Dilated with Woolly Hair and Keratoderma 53 40 73
Dcwhk 57 12 75
Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome 53 59
Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome 53 59
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome 53 59
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome 53 59
Keratoderma with Woolly Hair Type Ii 53 59
Kwwh Type Ii 53 59
Epidermolytic Palmoplantar Keratoderma Woolly Hair and Dilated Cardiomyopathy 53
Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy 53

Characteristics:

Orphanet epidemiological data:

59
carvajal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
risk of death due to cardiac dysfunction


HPO:

32
cardiomyopathy, dilated, with woolly hair and keratoderma:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605676
Disease Ontology 12 DOID:0090128
Orphanet 59 ORPHA65282
UMLS via Orphanet 74 C1854063
MedGen 42 C1854063
MeSH 44 D002311
KEGG 37 H02094
UMLS 73 C1854063

Summaries for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 65282Disease definitionWoolly hair-palmoplantar keratoderma-dilated cardiomyopathysyndrome 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 recessivetrait 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 woolly hair syndrome and naxos disease, 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart and skin, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24.

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 605676

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

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 woolly hair syndrome 32.6 DSP KRT74
2 naxos disease 32.0 DSC2 DSP JUP PKP2
3 palmoplantar keratosis 30.0 DSG1 DSP JUP
4 left ventricular noncompaction 29.6 DSP JUP PKP2 TGFB3
5 keratosis 29.6 DSG1 DSP GJA1
6 dilated cardiomyopathy 29.6 CDH2 DSC2 DSP GJA1 JUP PKP2
7 arrhythmogenic right ventricular cardiomyopathy 29.1 CDH2 DSC2 DSP GJA1 JUP PKP2
8 grover's disease 10.2 DSP JUP
9 epidermolysis bullosa, lethal acantholytic 10.2 DSP JUP
10 middle lobe syndrome 10.1 JUP KRT74
11 benign chronic pemphigus 10.1 DSP JUP
12 darier-white disease 10.1 DSP JUP
13 palmoplantar keratoderma and woolly hair 10.1 DSC2 DSP JUP
14 ectodermal dysplasia 10.0 DSP KRT74 PKP1
15 left bundle branch hemiblock 10.0 JUP KRT74 PKP2
16 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 JUP TGFB3
17 hair disease 10.0 DSP KRT74
18 arrhythmogenic right ventricular dysplasia, familial, 4 10.0 PKP2 TGFB3
19 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.0 DSG1 DSP
20 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 DSP JUP TGFB3
21 striate palmoplantar keratoderma 10.0 DSG1 DSP
22 neuroblastoma 9.9
23 palmoplantar keratoderma, nonepidermolytic 9.9
24 tooth agenesis 9.9
25 cervical neuroblastoma 9.9
26 unna-thost palmoplantar keratoderma 9.9
27 keratoderma with woolly hair 9.9
28 autoimmune disease of skin and connective tissue 9.9 DSG1 DSP
29 intrinsic cardiomyopathy 9.9 DSC2 DSP JUP PKP2
30 atrial standstill 1 9.9 DSC2 DSP JUP PKP2
31 cardiomyopathy, dilated, 1e 9.9 CDH2 DSP GJA1
32 ectodermal dysplasia/skin fragility syndrome 9.9 DSC2 DSP JUP PKP1
33 cellulitis 9.9 DSG1 DSP
34 pemphigus 9.9 DSG1 DSP JUP
35 pemphigus vulgaris 9.9 DSG1 DSP JUP
36 bullous skin disease 9.9 DSC2 DSG1 DSP
37 paraneoplastic pemphigus 9.9 DSC2 DSG1 DSP
38 subcorneal pustular dermatosis 9.8 DSC2 DSG1
39 skin disease 9.8 DSG1 DSP GJA1
40 hypoplastic left heart syndrome 9.8 CDH2 GJA1
41 hypotrichosis 9.8 DSG1 GJA1 KRT74
42 arrhythmogenic right ventricular dysplasia, familial, 9 9.7 DSP JUP KRT74 PKP2 TGFB3
43 arrhythmogenic right ventricular dysplasia, familial, 8 9.7 DSP JUP KRT74 PKP2 TGFB3
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.7 DSC2 DSP JUP PKP2 TGFB3
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.7 DSC2 DSP JUP PKP2 TGFB3
46 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.7 DSC2 DSP JUP PKP2 TGFB3
47 heart disease 9.7 DSP GJA1 PKP2 TGFB3

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
2 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
3 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
4 patchy palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005588
5 palmoplantar keratoderma 32 HP:0000982
6 edema 32 HP:0000969
7 reduced number of teeth 32 HP:0009804
8 ventricular tachycardia 32 occasional (7.5%) HP:0004756
9 congenital bullous ichthyosiform erythroderma 32 HP:0007475
10 cardiomyocyte hypertrophy 32 HP:0031319

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 9.8 CDH2 DSC2 DSP GJA1 JUP PKP2
2 cellular MP:0005384 9.7 CDH2 DSP GJA1 JUP PKP1 PKP2
3 growth/size/body region MP:0005378 9.5 CDH2 DSG1 DSP GJA1 JUP PKP1
4 muscle MP:0005369 9.02 CDH2 DSP GJA1 JUP PKP2

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

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

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

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

Anatomical Context for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

41
Heart, Skin

Publications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

(show all 20)
# Title Authors Year
1
A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl. ( 30079965 )
2018
2
Arrhythmogenic right ventricular dysplasia, cutaneous manifestations and desmoplakin mutation: Carvajal syndrome. ( 30345701 )
2018
3
A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome. ( 29256881 )
2017
4
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis. ( 26833927 )
2016
5
Carvajal syndrome with oligodontia, hypoacusis, recurrent infections, and noncompaction. ( 26599742 )
2016
6
Carvajal Syndrome. ( 27127386 )
2016
7
Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction. ( 27617069 )
2016
8
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. ( 25824144 )
2015
9
A Nine-Year-Old Girl With Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome). ( 26396705 )
2015
10
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. ( 25430408 )
2014
11
HeartWare LVAD implantation in a patient with a rare ARVD: Carvajal syndrome. ( 25044388 )
2014
12
Evidence for genetic heterogeneity in Carvajal syndrome. ( 22350851 )
2012
13
Variant Carvajal syndrome with additional dental anomalies. ( 22404234 )
2012
14
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). ( 20486455 )
2010
15
Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome). ( 18313016 )
2008
16
Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome. ( 17125858 )
2007
17
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). ( 17998464 )
2007
18
Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal syndrome. ( 16494708 )
2006
19
Structural and molecular pathology of the heart in Carvajal syndrome. ( 14761782 )
2004
20
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. ( 15210133 )
2004

Variations for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

6 (show top 50) (show all 971)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.7623delG (p.Lys2542Serfs) deletion Pathogenic rs397514039 GRCh37 Chromosome 6, 7585118: 7585118
2 DSP NM_004415.3(DSP): c.7623delG (p.Lys2542Serfs) deletion Pathogenic rs397514039 GRCh38 Chromosome 6, 7584885: 7584885
3 DSP NM_004415.3(DSP): c.6091_6092delTT (p.Leu2031Glyfs) deletion Uncertain significance rs397514040 GRCh37 Chromosome 6, 7583586: 7583587
4 DSP NM_004415.3(DSP): c.6091_6092delTT (p.Leu2031Glyfs) deletion Uncertain significance rs397514040 GRCh38 Chromosome 6, 7583353: 7583354
5 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Likely pathogenic rs121912997 GRCh37 Chromosome 6, 7580222: 7580222
6 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Likely pathogenic rs121912997 GRCh38 Chromosome 6, 7579989: 7579989
7 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh37 Chromosome 6, 7542236: 7542236
8 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh38 Chromosome 6, 7542003: 7542003
9 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
10 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
11 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh37 Chromosome 6, 7571824: 7571824
12 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh38 Chromosome 6, 7571591: 7571591
13 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh37 Chromosome 6, 7577213: 7577213
14 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh38 Chromosome 6, 7576980: 7576980
15 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh37 Chromosome 6, 7581196: 7581196
16 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh38 Chromosome 6, 7580963: 7580963
17 DSP NM_004415.3(DSP): c.5555G> A (p.Arg1852His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922669 GRCh37 Chromosome 6, 7583050: 7583050
18 DSP NM_004415.3(DSP): c.5555G> A (p.Arg1852His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922669 GRCh38 Chromosome 6, 7582817: 7582817
19 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh37 Chromosome 6, 7585796: 7585796
20 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh38 Chromosome 6, 7585563: 7585563
21 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh37 Chromosome 6, 7565727: 7565727
22 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh38 Chromosome 6, 7565494: 7565494
23 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh37 Chromosome 6, 7586120: 7586120
24 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh38 Chromosome 6, 7585887: 7585887
25 DSP NM_004415.3(DSP): c.1112A> C (p.His371Pro) single nucleotide variant Uncertain significance rs397516912 GRCh37 Chromosome 6, 7567654: 7567654
26 DSP NM_004415.3(DSP): c.1112A> C (p.His371Pro) single nucleotide variant Uncertain significance rs397516912 GRCh38 Chromosome 6, 7567421: 7567421
27 DSP NM_004415.3(DSP): c.1266+6G> T single nucleotide variant Benign/Likely benign rs73375345 GRCh37 Chromosome 6, 7568145: 7568145
28 DSP NM_004415.3(DSP): c.1266+6G> T single nucleotide variant Benign/Likely benign rs73375345 GRCh38 Chromosome 6, 7567912: 7567912
29 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh37 Chromosome 6, 7542160: 7542160
30 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh38 Chromosome 6, 7541927: 7541927
31 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh37 Chromosome 6, 7569480: 7569480
32 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh38 Chromosome 6, 7569247: 7569247
33 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh37 Chromosome 6, 7569487: 7569487
34 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh38 Chromosome 6, 7569254: 7569254
35 DSP NM_004415.3(DSP): c.157T> G (p.Ser53Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516918 GRCh37 Chromosome 6, 7542305: 7542305
36 DSP NM_004415.3(DSP): c.157T> G (p.Ser53Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516918 GRCh38 Chromosome 6, 7542072: 7542072
37 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh37 Chromosome 6, 7571692: 7571692
38 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh38 Chromosome 6, 7571459: 7571459
39 DSP NM_004415.3(DSP): c.1949A> G (p.Asn650Ser) single nucleotide variant Uncertain significance rs145650440 GRCh37 Chromosome 6, 7572120: 7572120
40 DSP NM_004415.3(DSP): c.1949A> G (p.Asn650Ser) single nucleotide variant Uncertain significance rs145650440 GRCh38 Chromosome 6, 7571887: 7571887
41 DSP NM_004415.3(DSP): c.2134G> A (p.Val712Met) single nucleotide variant Uncertain significance rs397516922 GRCh37 Chromosome 6, 7574322: 7574322
42 DSP NM_004415.3(DSP): c.2134G> A (p.Val712Met) single nucleotide variant Uncertain significance rs397516922 GRCh38 Chromosome 6, 7574089: 7574089
43 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh37 Chromosome 6, 7574938: 7574938
44 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh38 Chromosome 6, 7574705: 7574705
45 DSP NM_004415.3(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 GRCh37 Chromosome 6, 7575014: 7575014
46 DSP NM_004415.3(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 GRCh38 Chromosome 6, 7574781: 7574781
47 DSP NM_004415.3(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 NCBI36 Chromosome 6, 7520013: 7520013
48 DSP NM_004415.3(DSP): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance rs140965835 GRCh37 Chromosome 6, 7556022: 7556022
49 DSP NM_004415.3(DSP): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance rs140965835 GRCh38 Chromosome 6, 7555789: 7555789
50 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh37 Chromosome 6, 7575687: 7575687

Expression for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

Pathways for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.85 DSP GJA1 JUP KRT74 PKP1 PKP2
2 cell-cell adherens junction GO:0005913 9.83 CDH2 DSC2 JUP PKP1 PKP2
3 cell-cell junction GO:0005911 9.8 CDH2 DSG1 DSP GJA1 JUP PKP1
4 apical plasma membrane GO:0016324 9.73 CDH2 DSG1 GJA1
5 adherens junction GO:0005912 9.69 CDH2 JUP PKP2
6 ficolin-1-rich granule membrane GO:0101003 9.65 DSG1 DSP PKP1
7 lateral plasma membrane GO:0016328 9.63 DSG1 GJA1 JUP
8 cornified envelope GO:0001533 9.63 DSC2 DSG1 DSP JUP PKP1 PKP2
9 fascia adherens GO:0005916 9.62 CDH2 DSP GJA1 JUP
10 cytoplasmic side of plasma membrane GO:0009898 9.55 DSG1 JUP
11 catenin complex GO:0016342 9.54 CDH2 JUP
12 messenger ribonucleoprotein complex GO:1990124 9.52 PKP1 PKP2
13 intercalated disc GO:0014704 9.43 CDH2 DSC2 DSP GJA1 JUP PKP2
14 desmosome GO:0030057 9.1 DSC2 DSG1 DSP JUP PKP1 PKP2
15 plasma membrane GO:0005886 10.15 CDH2 DSC2 DSG1 DSP GJA1 JUP
16 cell junction GO:0030054 10.01 CDH2 DSC2 DSG1 DSP GJA1 JUP

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 9.91 CDH2 DSC2 DSG1 JUP PKP1 PKP2
2 neutrophil degranulation GO:0043312 9.84 DSG1 DSP JUP PKP1
3 cell-cell adhesion GO:0098609 9.8 CDH2 DSG1 DSP JUP PKP1 PKP2
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.72 CDH2 DSC2 DSG1
5 cell-cell junction assembly GO:0007043 9.71 CDH2 DSG1 PKP1 PKP2
6 protein localization to plasma membrane GO:0072659 9.7 CDH2 JUP PKP2
7 regulation of heart rate by cardiac conduction GO:0086091 9.67 DSC2 DSP JUP PKP2
8 adherens junction organization GO:0034332 9.63 CDH2 DSP JUP
9 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.6 CDH2 DSG1
10 skin development GO:0043588 9.59 DSP JUP
11 response to progesterone GO:0032570 9.58 DSG1 TGFB3
12 blood vessel morphogenesis GO:0048514 9.58 CDH2 GJA1
13 cell-cell junction organization GO:0045216 9.57 GJA1 TGFB3
14 intermediate filament cytoskeleton organization GO:0045104 9.56 DSP KRT74
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.56 DSC2 DSP JUP PKP2
16 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.51 GJA1 PKP2
17 keratinization GO:0031424 9.5 DSC2 DSG1 DSP JUP KRT74 PKP1
18 intermediate filament bundle assembly GO:0045110 9.49 PKP1 PKP2
19 desmosome assembly GO:0002159 9.48 JUP PKP2
20 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.46 DSC2 DSP JUP PKP2
21 cornification GO:0070268 9.17 DSC2 DSG1 DSP JUP KRT74 PKP1

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 structural molecule activity GO:0005198 9.54 DSP JUP KRT74
2 cell adhesion molecule binding GO:0050839 9.46 DSP JUP
3 cadherin binding GO:0045296 9.46 CDH2 JUP PKP1 PKP2
4 scaffold protein binding GO:0097110 9.43 DSP GJA1
5 protein kinase C binding GO:0005080 9.4 DSP PKP2
6 gamma-catenin binding GO:0045295 9.32 CDH2 DSG1
7 intermediate filament binding GO:0019215 9.26 PKP1 PKP2
8 alpha-catenin binding GO:0045294 9.13 CDH2 JUP PKP2
9 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.92 DSC2 DSP JUP PKP2

Sources for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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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