DCWHKTA
MCID: CRD240
MIFTS: 22

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 58 76 30 6 74
Dcwhkta 58 76
Cardiomyopathy, Dilated with Woolly Hair, Keratoderma, and Tooth Agenesis 41
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
risk of sudden death due to cardiac arrhythmias
tooth agenesis ranges from 1 missing tooth to marked oligodontia


HPO:

33
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 : 76 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). Affiliated tissues include skin, and related phenotypes are reduced number of teeth and ichthyosis

Description 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:

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

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar keratoderma
ichthyosis (in some patients)
striated keratoderma of palms (in some patients)
focal keratoderma of soles (in some patients)
more
Skin Nails Hair Hair:
woolly hair
diffuse hypotrichosis (in some patients)

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

Skin Nails Hair Skin Histology:
parakeratosis
compact orthohyperkeratosis
psoriasiform hyperplasia
reduced granular cell layer

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

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 30 DSP

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

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

42
Skin

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

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

# Title Authors Year
1
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. ( 26604139 )
2016
2
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. ( 22795705 )
2012
3
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. ( 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. ( 16628197 )
2006

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

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

76
# Symbol AA change Variation ID SNP ID
1 DSP p.Thr564Ile VAR_072432 rs606231295
2 DSP p.Ser597Leu VAR_072433 rs606231294

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.2(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh37 Chromosome 6, 7562986: 7562986
2 DSP NM_004415.2(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh38 Chromosome 6, 7562753: 7562753
3 DSP NM_004415.2(DSP): c.8472G> C (p.Gly2824=) single nucleotide variant Benign rs2744380 GRCh37 Chromosome 6, 7585967: 7585967
4 DSP NM_004415.2(DSP): c.8472G> C (p.Gly2824=) single nucleotide variant Benign rs2744380 GRCh38 Chromosome 6, 7585734: 7585734
5 DSP NM_004415.3(DSP) duplication Pathogenic rs606231293 GRCh38 Chromosome 6, 7571498: 7571527
6 DSP NM_004415.3(DSP) duplication Pathogenic rs606231293 GRCh37 Chromosome 6, 7571731: 7571760
7 DSP NM_004415.3(DSP): c.1790C> T (p.Ser597Leu) single nucleotide variant Likely pathogenic rs606231294 GRCh38 Chromosome 6, 7571471: 7571471
8 DSP NM_004415.3(DSP): c.1790C> T (p.Ser597Leu) single nucleotide variant Likely pathogenic rs606231294 GRCh37 Chromosome 6, 7571704: 7571704
9 DSP NM_004415.3(DSP): c.1691C> T (p.Thr564Ile) single nucleotide variant Pathogenic rs606231295 GRCh38 Chromosome 6, 7570553: 7570553
10 DSP NM_004415.3(DSP): c.1691C> T (p.Thr564Ile) single nucleotide variant Pathogenic rs606231295 GRCh37 Chromosome 6, 7570786: 7570786
11 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
12 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
13 DSP NM_004415.2(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh37 Chromosome 6, 7581747: 7581747
14 DSP NM_004415.2(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh38 Chromosome 6, 7581514: 7581514
15 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh38 Chromosome 6, 7580680: 7580680
16 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh37 Chromosome 6, 7580913: 7580913
17 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
18 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509
19 DSP NM_004415.3(DSP): c.2432T> C (p.Leu811Pro) single nucleotide variant Uncertain significance rs869025391 GRCh37 Chromosome 6, 7575024: 7575024
20 DSP NM_004415.3(DSP): c.2432T> C (p.Leu811Pro) single nucleotide variant Uncertain significance rs869025391 GRCh38 Chromosome 6, 7574791: 7574791
21 DSP NM_004415.3(DSP): c.6902T> C (p.Ile2301Thr) single nucleotide variant Uncertain significance rs772381363 GRCh37 Chromosome 6, 7584397: 7584397
22 DSP NM_004415.3(DSP): c.6902T> C (p.Ile2301Thr) single nucleotide variant Uncertain significance rs772381363 GRCh38 Chromosome 6, 7584164: 7584164
23 DSP NM_004415.3(DSP): c.1847A> C (p.Gln616Pro) single nucleotide variant Pathogenic rs1184921987 GRCh38 Chromosome 6, 7571528: 7571528
24 DSP NM_004415.3(DSP): c.1847A> C (p.Gln616Pro) single nucleotide variant Pathogenic rs1184921987 GRCh37 Chromosome 6, 7571761: 7571761
25 DSP NM_004415.3(DSP): c.1853A> C (p.His618Pro) single nucleotide variant Pathogenic rs1554107096 GRCh38 Chromosome 6, 7571534: 7571534
26 DSP NM_004415.3(DSP): c.1853A> C (p.His618Pro) single nucleotide variant Pathogenic rs1554107096 GRCh37 Chromosome 6, 7571767: 7571767
27 DSP NM_004415.3(DSP): c.1865T> C (p.Leu622Pro) single nucleotide variant Pathogenic rs1554107098 GRCh37 Chromosome 6, 7571779: 7571779
28 DSP NM_004415.3(DSP): c.1865T> C (p.Leu622Pro) single nucleotide variant Pathogenic rs1554107098 GRCh38 Chromosome 6, 7571546: 7571546
29 DSP NM_004415.2(DSP): c.137G> A (p.Gly46Asp) single nucleotide variant Uncertain significance rs140403872 GRCh37 Chromosome 6, 7542285: 7542285
30 DSP NM_004415.2(DSP): c.137G> A (p.Gly46Asp) single nucleotide variant Uncertain significance rs140403872 GRCh38 Chromosome 6, 7542052: 7542052
31 DSP NM_004415.3(DSP): c.1865T> G (p.Leu622Arg) single nucleotide variant Uncertain significance rs1554107098 GRCh38 Chromosome 6, 7571546: 7571546
32 DSP NM_004415.3(DSP): c.1865T> G (p.Leu622Arg) single nucleotide variant Uncertain significance rs1554107098 GRCh37 Chromosome 6, 7571779: 7571779

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...

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