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

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 72
Carvajal Syndrome 57 12 20 58 72 36 54 15
Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair 57 12 20 72
Dilated Cardiomyopathy with Woolly Hair and Keratoderma 12 29 13 6
Dcwhk 57 12 72
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 70
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 20-May-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:

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 71 C1854063
Orphanet 58 ORPHA65282
MedGen 41 C1854063
UMLS 70 C1854063

Summaries for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 65282 Definition A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Epidemiology Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. Clinical description The 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. Etiology The 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 diagnosis The syndrome is similar to Naxos disease (see this term).

MalaCards based summary : Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma, also known as carvajal syndrome, is related to palmoplantar keratoderma and woolly hair and cardiac conduction defect, 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 : 72 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

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 top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 30.1 JUP DSP DSC2
2 cardiac conduction defect 30.0 RYR2 DSP DSG2
3 striate palmoplantar keratoderma 29.8 DSP DSG1
4 atrial standstill 1 29.7 TMEM43 RYR2 PKP2 JUP DSP DSG2
5 keratosis 29.4 GJA1 DSP DSG4 DSG2 DSG1
6 left bundle branch hemiblock 29.4 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
7 palmoplantar keratosis 28.9 PKP2 PKP1 JUP GJA1 DSP DSG2
8 dilated cardiomyopathy 28.5 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
9 familial woolly hair syndrome 28.3 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
10 arrhythmogenic right ventricular cardiomyopathy 28.2 TMEM43 TGFB3 RYR2 PKP3 PKP2 JUP
11 left ventricular noncompaction 28.0 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
12 naxos disease 27.9 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
13 palmoplantar keratoderma, nonepidermolytic 26.9 TMEM43 RYR2 PKP3 PKP2 PKP1 JUP
14 keratoderma with woolly hair 11.0
15 grover's disease 10.3 JUP DSP
16 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
17 left ventricular noncompaction 1 10.2 PKP2 JUP
18 tooth agenesis 10.1
19 cardiomyopathy, dilated, 1h 10.1 TMEM43 DSP DSC2
20 cardiomyopathy, dilated, 1a 10.1 TMEM43 DSP DSC2
21 anomalous left coronary artery from the pulmonary artery 10.1 PKP2 GJA1
22 dystonia 3, torsion, x-linked 10.1 DSC3 DSC2
23 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
24 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 RYR2 PKP2 DSP
25 restrictive cardiomyopathy 10.0 PKP2 DSP DSG2
26 familial isolated arrhythmogenic right ventricular dysplasia 10.0 TMEM43 PKP2 DSP DSC2
27 ectodermal dysplasia/skin fragility syndrome 10.0 PKP1 JUP DSP DSC2
28 epidermolysis bullosa simplex with mottled pigmentation 10.0 PKP1 DSP
29 epidermolysis bullosa simplex, dowling-meara type 10.0 PKP1 DSP DSG4
30 cardiac arrest 10.0 RYR2 DSP DSG2
31 cardiac arrhythmia 10.0 RYR2 PKP2 JUP DSP
32 pseudomembranous conjunctivitis 10.0 DSP DSG1
33 pemphigus vegetans 9.9 DSG1 DSC3
34 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 9.9 DSP DSG1
35 long qt syndrome 1 9.9 RYR2 PKP2 DSP DSG2
36 progressive familial heart block, type ia 9.9
37 periodontitis, aggressive, 1 9.9
38 papillon-lefevre syndrome 9.9
39 atrioventricular block 9.9
40 first-degree atrioventricular block 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 right bundle branch block 9.9 PKP2 DSG2

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

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 20-May-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 20-May-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 10.02 CTNNA3 DSC2 DSG2 DSP GJA1 JUP
2 cellular MP:0005384 9.91 DSC3 DSG2 DSP GJA1 JUP PKP1
3 integument MP:0010771 9.81 DSC3 DSG1 DSG2 DSG4 DSP GJA1
4 mortality/aging MP:0010768 9.73 CTNNA3 DSC3 DSG2 DSG4 DSP GJA1
5 muscle MP:0005369 9.17 CTNNA3 DSG2 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:

40
Heart, Skin

Publications for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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

(show top 50) (show all 89)
# Title Authors PMID Year
1
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. 6 57 61
23137101 2013
2
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 57 6
11063735 2000
3
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61 54 6
16175511 2005
4
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. 61 6
25516398 2015
5
Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation. 6
31194698 2019
6
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. 6
30919684 2019
7
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. 6
29892087 2019
8
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series. 6
29915097 2018
9
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. 6
29247119 2017
10
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 6
28527814 2017
11
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 6
28416588 2017
12
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. 6
27194543 2017
13
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations. 6
28442525 2017
14
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
15
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 6
27831900 2016
16
Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family. 6
27698334 2016
17
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 6
26899768 2016
18
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. 6
26604139 2016
19
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 6
26735901 2016
20
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 6
26187847 2015
21
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 6
25820315 2015
22
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 6
25616645 2015
23
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 6
25227139 2015
24
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. 6
25157032 2014
25
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 6
24503780 2014
26
Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. 6
24825141 2014
27
When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy. 57
24460197 2014
28
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 6
24070718 2013
29
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. 6
24125834 2013
30
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 6
23810894 2013
31
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 6
23812740 2013
32
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 6
23671136 2013
33
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. 6
22795705 2012
34
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 6
22555271 2012
35
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 6
21859740 2011
36
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 6
21606390 2011
37
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. 6
20940358 2011
38
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 6
20864495 2010
39
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 6
20716751 2010
40
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 6
20400443 2010
41
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 6
19279339 2009
42
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 6
19095136 2008
43
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 6
16917092 2006
44
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
45
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 6
16467215 2006
46
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. 6
16061754 2005
47
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. 57
11443548 2001
48
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 6
10594734 1999
49
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. 57
9887343 1999
50
Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. 57
9864371 1998

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 1088)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.7780del (p.Ser2594fs) Deletion Pathogenic 60561 rs397514045 GRCh37: 6:7585273-7585273
GRCh38: 6:7585040-7585040
2 DSP NM_004415.4(DSP):c.3891_3894dup (p.Met1299fs) Duplication Pathogenic 802189 rs1581816570 GRCh37: 6:7580313-7580314
GRCh38: 6:7580080-7580081
3 DSP NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) Duplication Pathogenic 157671 rs606231293 GRCh37: 6:7571729-7571730
GRCh38: 6:7571496-7571497
4 DSP NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) SNV Pathogenic 157672 rs606231294 GRCh37: 6:7571704-7571704
GRCh38: 6:7571471-7571471
5 DSP NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) SNV Pathogenic 157673 rs606231295 GRCh37: 6:7570786-7570786
GRCh38: 6:7570553-7570553
6 DSP NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) SNV Pathogenic 523823 rs1554108283 GRCh37: 6:7580720-7580720
GRCh38: 6:7580487-7580487
7 DSP NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) Deletion Pathogenic 1034083 GRCh37: 6:7583156-7583159
GRCh38: 6:7582923-7582926
8 DSP NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) SNV Pathogenic 246677 rs879254353 GRCh37: 6:7585665-7585665
GRCh38: 6:7585432-7585432
9 DSP NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) Deletion Pathogenic 246676 rs879254352 GRCh37: 6:7585570-7585573
GRCh38: 6:7585337-7585340
10 DSP NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) SNV Pathogenic 372127 rs1554107098 GRCh37: 6:7571779-7571779
GRCh38: 6:7571546-7571546
11 DSP NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) SNV Pathogenic 372125 rs1184921987 GRCh37: 6:7571761-7571761
GRCh38: 6:7571528-7571528
12 DSP NM_004415.4(DSP):c.1853A>C (p.His618Pro) SNV Pathogenic 372126 rs1554107096 GRCh37: 6:7571767-7571767
GRCh38: 6:7571534-7571534
13 DSP NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) Deletion Pathogenic 405232 rs774763657 GRCh37: 6:7583174-7583177
GRCh38: 6:7582941-7582944
14 DSP NM_004415.4(DSP):c.268C>T (p.Gln90Ter) SNV Pathogenic 265102 rs886039343 GRCh37: 6:7556048-7556048
GRCh38: 6:7555815-7555815
15 DSP NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) Duplication Pathogenic 199923 rs1554108152 GRCh37: 6:7580155-7580156
GRCh38: 6:7579922-7579923
16 DSP NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) SNV Pathogenic 44914 rs397516940 GRCh37: 6:7580954-7580954
GRCh38: 6:7580721-7580721
17 DSP NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) SNV Pathogenic 222582 rs869025395 GRCh37: 6:7583346-7583346
GRCh38: 6:7583113-7583113
18 DSP NM_004415.4(DSP):c.5460dup (p.Val1821fs) Duplication Pathogenic 464966 rs1554108609 GRCh37: 6:7582952-7582953
GRCh38: 6:7582719-7582720
19 DSP NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) Microsatellite Pathogenic 464956 rs1249913357 GRCh37: 6:7567600-7567601
GRCh38: 6:7567367-7567368
20 DSP NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) SNV Pathogenic 464962 rs772646601 GRCh37: 6:7579771-7579771
GRCh38: 6:7579538-7579538
21 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 GRCh37: 6:7562986-7562986
GRCh38: 6:7562753-7562753
22 DSP NM_004415.4(DSP):c.1162del (p.Thr388fs) Deletion Pathogenic 464957 rs1554106742 GRCh37: 6:7568035-7568035
GRCh38: 6:7567802-7567802
23 DSP NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) Microsatellite Pathogenic 464968 rs1487814687 GRCh37: 6:7583160-7583161
GRCh38: 6:7582927-7582928
24 DSP NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) Deletion Pathogenic 16844 rs397514040 GRCh37: 6:7583585-7583586
GRCh38: 6:7583352-7583353
25 DSP NM_004415.4(DSP):c.1182del (p.Leu395fs) Deletion Pathogenic 464958 rs1554106743 GRCh37: 6:7568052-7568052
GRCh38: 6:7567819-7567819
26 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Pathogenic 199916 rs794728137 GRCh37: 6:7565740-7565741
GRCh38: 6:7565507-7565508
27 DSP NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) SNV Pathogenic 534281 rs1236464864 GRCh37: 6:7580818-7580818
GRCh38: 6:7580585-7580585
28 DSP NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) SNV Pathogenic 534283 rs28763965 GRCh37: 6:7580795-7580795
GRCh38: 6:7580562-7580562
29 DSP NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) SNV Pathogenic 534275 rs1554108477 GRCh37: 6:7581692-7581692
GRCh38: 6:7581459-7581459
30 DSP NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) Indel Pathogenic 452266 rs1554108410 GRCh37: 6:7581305-7581309
GRCh38: 6:7581072-7581076
31 DSP NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) Microsatellite Pathogenic 565543 rs1561702771 GRCh37: 6:7584076-7584077
GRCh38: 6:7583843-7583844
32 DSP NM_004415.4(DSP):c.1282dup (p.Ile428fs) Duplication Pathogenic 565816 rs1561687796 GRCh37: 6:7568681-7568682
GRCh38: 6:7568448-7568449
33 DSP NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) Indel Pathogenic 566602 rs1561680649 GRCh37: 6:7558404-7558405
GRCh38: 6:7558171-7558172
34 DSP NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) SNV Pathogenic 199903 rs141026028 GRCh37: 6:7583991-7583991
GRCh38: 6:7583758-7583758
35 DSP NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) SNV Pathogenic 199890 rs794728124 GRCh37: 6:7581635-7581635
GRCh38: 6:7581402-7581402
36 DSP NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) SNV Pathogenic 489339 rs1554108050 GRCh37: 6:7579664-7579664
GRCh38: 6:7579431-7579431
37 DSP NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) Microsatellite Pathogenic 569376 rs1561701401 GRCh37: 6:7583265-7583266
GRCh38: 6:7583032-7583033
38 DSP NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) Deletion Pathogenic 570298 rs1561698362 GRCh37: 6:7580458-7580462
GRCh38: 6:7580225-7580229
39 DSP NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) Duplication Pathogenic 570474 rs1561697181 GRCh37: 6:7579712-7579713
GRCh38: 6:7579479-7579480
40 DSP NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) SNV Pathogenic 162505 rs140474226 GRCh37: 6:7580603-7580603
GRCh38: 6:7580370-7580370
41 DSP NM_004415.4(DSP):c.7075del (p.Ile2359fs) Deletion Pathogenic 571455 rs1561703363 GRCh37: 6:7584570-7584570
GRCh38: 6:7584337-7584337
42 DSP NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) SNV Pathogenic 572718 rs1561693779 GRCh37: 6:7575588-7575588
GRCh38: 6:7575355-7575355
43 DSP NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) Indel Pathogenic 572780 rs1561696970 GRCh37: 6:7579549-7579550
GRCh38: 6:7579316-7579317
44 DSP NM_004415.4(DSP):c.7872_7873CA[1] (p.Thr2625fs) Microsatellite Pathogenic 574161 rs1561704475 GRCh37: 6:7585366-7585367
GRCh38: 6:7585133-7585134
45 DSP NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) SNV Pathogenic 576091 rs1561698750 GRCh37: 6:7580780-7580780
GRCh38: 6:7580547-7580547
46 DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Pathogenic 180326 rs730880082 GRCh37: 6:7577219-7577219
GRCh38: 6:7576986-7576986
47 DSP NM_004415.4(DSP):c.6466dup (p.Arg2156fs) Duplication Pathogenic 419496 rs1554108859 GRCh37: 6:7583960-7583961
GRCh38: 6:7583727-7583728
48 DSP NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) Indel Pathogenic 199924 rs1554108621 GRCh37: 6:7583045-7583052
GRCh38: 6:7582812-7582819
49 DSP NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) SNV Pathogenic 577561 rs1561694696 GRCh37: 6:7576621-7576621
GRCh38: 6:7576388-7576388
50 DSP NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) SNV Pathogenic 579962 rs1194358112 GRCh37: 6:7584735-7584735
GRCh38: 6:7584502-7584502

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 PKP3 PKP2 PKP1 JUP DSP DSG4
2
Show member pathways
11.78 PKP3 PKP2 PKP1 JUP DSP DSG4
3 11.74 RYR2 PKP2 JUP GJA1 DSP DSG2
4
Show member pathways
11.73 PKP1 DSP DSG2 DSG1
5 11.7 JUP GJA1 DSP
6
Show member pathways
11.61 PKP2 PKP1 DSP
7 11.37 RYR2 JUP GJA1 DSP
8 11.06 JUP GJA1 DSP CTNNA3

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 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.27 TGFB3 RYR2 PKP3 PKP2 PKP1 JUP
2 cell junction GO:0030054 10 PKP3 PKP2 PKP1 JUP GJA1 DSP
3 adherens junction GO:0005912 9.88 PKP3 PKP2 PKP1 JUP DSC2 CTNNA3
4 cell-cell junction GO:0005911 9.81 PKP3 PKP2 JUP DSP DSG4 DSG2
5 intercalated disc GO:0014704 9.8 PKP2 JUP GJA1 DSP DSG2 DSC2
6 intermediate filament GO:0005882 9.78 PKP2 PKP1 JUP DSP
7 lateral plasma membrane GO:0016328 9.69 JUP DSG2 DSG1
8 ficolin-1-rich granule membrane GO:0101003 9.67 PKP1 DSP DSG1
9 fascia adherens GO:0005916 9.67 JUP GJA1 DSP CTNNA3
10 desmosome GO:0030057 9.65 PKP3 PKP2 PKP1 JUP DSP DSG4
11 messenger ribonucleoprotein complex GO:1990124 9.61 PKP3 PKP2 PKP1
12 cornified envelope GO:0001533 9.32 PKP3 PKP2 PKP1 JUP DSP DSG4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.1 PKP3 PKP2 PKP1 JUP DSG4 DSG2
2 neutrophil degranulation GO:0043312 9.89 PKP1 JUP DSP DSG1
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.89 DSG4 DSG2 DSG1 DSC3 DSC2
4 regulation of heart rate by cardiac conduction GO:0086091 9.85 PKP2 JUP DSP DSG2 DSC2 CTNNA3
5 cornification GO:0070268 9.85 PKP3 PKP2 PKP1 JUP DSP DSG4
6 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.8 PKP2 JUP DSP DSG2 DSC2 CTNNA3
7 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.8 RYR2 PKP2 JUP DSP DSG2 DSC2
8 cell-cell junction assembly GO:0007043 9.78 PKP3 PKP2 PKP1 DSG1
9 protein localization to plasma membrane GO:0072659 9.75 PKP3 PKP2 JUP
10 response to progesterone GO:0032570 9.71 TGFB3 DSG2 DSG1
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 RYR2 PKP2 GJA1
12 keratinization GO:0031424 9.65 PKP3 PKP2 PKP1 JUP DSP DSG4
13 desmosome organization GO:0002934 9.63 PKP2 DSP DSG2
14 desmosome assembly GO:0002159 9.61 PKP3 PKP2 JUP
15 maternal process involved in female pregnancy GO:0060135 9.58 DSG2 DSG1
16 ventricular cardiac muscle cell action potential GO:0086005 9.57 RYR2 PKP2
17 epithelial cell-cell adhesion GO:0090136 9.56 DSP CTNNA3
18 intermediate filament bundle assembly GO:0045110 9.55 PKP2 PKP1
19 negative regulation of mRNA catabolic process GO:1902373 9.52 PKP3 PKP1
20 cell-cell adhesion GO:0098609 9.36 PKP3 PKP2 PKP1 JUP DSP DSG4

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 9.8 RYR2 DSG4 DSG2 DSG1 DSC3 DSC2
2 cadherin binding GO:0045296 9.65 PKP3 PKP2 PKP1 JUP CTNNA3
3 cell adhesion molecule binding GO:0050839 9.46 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 for Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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