MCID: CRD240
MIFTS: 19

Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis

Categories: Genetic diseases, Skin diseases, Cardiovascular 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 75 29 6 73
Dcwhkta 57 75
Cardiomyopathy, Dilated with Woolly Hair, Keratoderma, and Tooth Agenesis 40
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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 ichthyosis and palmoplantar keratoderma

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...

Symptoms via clinical synopsis from OMIM:

57
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
psoriasiform hyperplasia
reduced granular cell layer
compact orthohyperkeratosis

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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 32 occasional (7.5%) HP:0008064
2 palmoplantar keratoderma 32 HP:0000982
3 parakeratosis 32 HP:0001036
4 nail dystrophy 32 occasional (7.5%) HP:0008404
5 pruritus 32 occasional (7.5%) HP:0000989
6 reduced number of teeth 32 frequent (33%) HP:0009804
7 woolly hair 32 HP:0002224
8 dilated cardiomyopathy 32 HP:0001644
9 syncope 32 occasional (7.5%) HP:0001279
10 fragile nails 32 occasional (7.5%) HP:0001808
11 leukonychia 32 occasional (7.5%) HP:0001820
12 gingival recession 32 HP:0030816

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...

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:

75
# 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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP) duplication Pathogenic rs606231293 GRCh38 Chromosome 6, 7571498: 7571527
2 DSP NM_004415.3(DSP) duplication Pathogenic rs606231293 GRCh37 Chromosome 6, 7571731: 7571760
3 DSP NM_004415.3(DSP): c.1790C> T (p.Ser597Leu) single nucleotide variant Likely pathogenic rs606231294 GRCh38 Chromosome 6, 7571471: 7571471
4 DSP NM_004415.3(DSP): c.1790C> T (p.Ser597Leu) single nucleotide variant Likely pathogenic rs606231294 GRCh37 Chromosome 6, 7571704: 7571704
5 DSP NM_004415.3(DSP): c.1691C> T (p.Thr564Ile) single nucleotide variant Pathogenic rs606231295 GRCh38 Chromosome 6, 7570553: 7570553
6 DSP NM_004415.3(DSP): c.1691C> T (p.Thr564Ile) single nucleotide variant Pathogenic rs606231295 GRCh37 Chromosome 6, 7570786: 7570786
7 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
8 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
9 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh37 Chromosome 6, 7580913: 7580913
10 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh38 Chromosome 6, 7580680: 7580680
11 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
12 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509
13 DSP NM_004415.3(DSP): c.1847A> C (p.Gln616Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 7571761: 7571761
14 DSP NM_004415.3(DSP): c.1847A> C (p.Gln616Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 7571528: 7571528
15 DSP NM_004415.3(DSP): c.1853A> C (p.His618Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 7571534: 7571534
16 DSP NM_004415.3(DSP): c.1853A> C (p.His618Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 7571767: 7571767
17 DSP NM_004415.3(DSP): c.1865T> C (p.Leu622Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 7571779: 7571779
18 DSP NM_004415.3(DSP): c.1865T> C (p.Leu622Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 7571546: 7571546

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...

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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