DCWHKTA
MCID: CRD240
MIFTS: 23

Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis (DCWHKTA)

Categories: Cardiovascular diseases, Genetic diseases, Skin diseases

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

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

Name: Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 57 72 29 6 70
Dcwhkta 57 72
Cardiomyopathy, Dilated with Woolly Hair, Keratoderma, and Tooth Agenesis 39
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
risk of sudden death due to cardiac arrhythmias
tooth agenesis ranges from one missing tooth to marked oligodontia


HPO:

31
cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth...

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis: A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia.

MalaCards based summary : Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis, is also known as dcwhkta. An important gene associated with Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis is DSP (Desmoplakin). Related phenotypes are reduced number of teeth and ichthyosis

More information from OMIM: 615821

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

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 reduced number of teeth 31 frequent (33%) HP:0009804
2 ichthyosis 31 occasional (7.5%) HP:0008064
3 pruritus 31 occasional (7.5%) HP:0000989
4 syncope 31 occasional (7.5%) HP:0001279
5 nail dystrophy 31 occasional (7.5%) HP:0008404
6 fragile nails 31 occasional (7.5%) HP:0001808
7 leukonychia 31 occasional (7.5%) HP:0001820
8 palmoplantar keratoderma 31 HP:0000982
9 dilated cardiomyopathy 31 HP:0001644
10 erythema 31 HP:0010783
11 woolly hair 31 HP:0002224
12 tachycardia 31 HP:0001649
13 parakeratosis 31 HP:0001036
14 gingival recession 31 HP:0030816

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar keratoderma
striated keratoderma of palms (in some patients)
focal keratoderma of soles (in some patients)
fissuring
more
Skin Nails Hair Skin Histology:
parakeratosis
compact orthohyperkeratosis
psoriasiform hyperplasia
reduced granular cell layer

Skin Nails Hair Nails:
onychodystrophy (in some patients)
leukonychia (rare)
brittle nails (rare)

Skin Nails Hair Hair:
woolly hair
diffuse hypotrichosis (in some patients)

Head And Neck Teeth:
gingival recession
tooth agenesis, variable
poorly mineralized enamel
recurrent caries of primary teeth
gingival erythema

Cardiovascular Heart:
cardiomyopathy, dilated
ventricular tachycardia, nonsustained
premature ventricular beats
biventricular enlargement
incomplete right bundle branch block (in some patients)
more

Clinical features from OMIM®:

615821 (Updated 20-May-2021)

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

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

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

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

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis 29 DSP

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

Publications for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth...

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

# Title Authors PMID Year
1
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. 57 6
26604139 2016
2
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. 6 57
22795705 2012
3
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. 57 6
20940358 2011
4
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 57
16628197 2006
5
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. 57
26073755 2015

Variations for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth...

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

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) Duplication Pathogenic 157671 rs606231293 GRCh37: 6:7571729-7571730
GRCh38: 6:7571496-7571497
2 DSP NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) SNV Pathogenic 157672 rs606231294 GRCh37: 6:7571704-7571704
GRCh38: 6:7571471-7571471
3 DSP NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) SNV Pathogenic 157673 rs606231295 GRCh37: 6:7570786-7570786
GRCh38: 6:7570553-7570553
4 DSP NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) SNV Pathogenic 372127 rs1554107098 GRCh37: 6:7571779-7571779
GRCh38: 6:7571546-7571546
5 DSP NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) SNV Pathogenic 372125 rs1184921987 GRCh37: 6:7571761-7571761
GRCh38: 6:7571528-7571528
6 DSP NM_004415.4(DSP):c.1853A>C (p.His618Pro) SNV Pathogenic 372126 rs1554107096 GRCh37: 6:7571767-7571767
GRCh38: 6:7571534-7571534
7 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 GRCh37: 6:7562986-7562986
GRCh38: 6:7562753-7562753
8 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Likely pathogenic 199916 rs794728137 GRCh37: 6:7565740-7565741
GRCh38: 6:7565507-7565508
9 DSP NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) SNV Uncertain significance 161226 rs148147581 GRCh37: 6:7570791-7570791
GRCh38: 6:7570558-7570558
10 DSP NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) SNV Uncertain significance 519064 rs1554107098 GRCh37: 6:7571779-7571779
GRCh38: 6:7571546-7571546
11 DSP NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) SNV Uncertain significance 263528 rs772381363 GRCh37: 6:7584397-7584397
GRCh38: 6:7584164-7584164
12 DSP NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) SNV Uncertain significance 179668 rs727505037 GRCh37: 6:7580913-7580913
GRCh38: 6:7580680-7580680
13 DSP NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) SNV Uncertain significance 222575 rs869025391 GRCh37: 6:7575024-7575024
GRCh38: 6:7574791-7574791
14 DSP NM_004415.4(DSP):c.137G>A (p.Gly46Asp) SNV Uncertain significance 451932 rs140403872 GRCh37: 6:7542285-7542285
GRCh38: 6:7542052-7542052
15 DSP NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) SNV Uncertain significance 161227 rs34738426 GRCh37: 6:7581747-7581747
GRCh38: 6:7581514-7581514
16 DSP NM_004415.4(DSP):c.8472G>C (p.Gly2824=) SNV Benign 44967 rs2744380 GRCh37: 6:7585967-7585967
GRCh38: 6:7585734-7585734

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis:

72
# Symbol AA change Variation ID SNP ID
1 DSP p.Thr564Ile VAR_072432 rs606231295
2 DSP p.Ser597Leu VAR_072433 rs606231294

Expression for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth...

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

Pathways for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth...

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

Sources for Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth...

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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