Cardiomyopathy, dilated, with woolly hair, keratoderma, and toothagenesis

General Information (adopted from Orphanet):

Synonyms, Signs: DCWHKTA
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615821
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
16628197 [IBIS]
Age of onset: All ages
16628197, 22795705 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001644) Dilated cardiomyopathy 20940358 IBIS 141 / 7739
2
 (HPO:0001685) Myocardial fibrosis 20940358 IBIS 30 / 7739
3
 (HPO:0003115) Abnormal EKG 16628197 IBIS 44 / 7739
4
 (HPO:0011675) Arrhythmia 16628197 IBIS 226 / 7739
5
 (HPO:0011712) Right bundle branch block 20940358 IBIS 34 / 7739
6
 (HPO:0004756) Ventricular tachycardia 16628197 IBIS 55 / 7739
7
 (HPO:0006673) Reduced systolic function 16628197 IBIS 11 / 7739
8
 (HPO:0001645) Sudden cardiac death 16628197 IBIS 84 / 7739
9
 (HPO:0002375) Hypokinesia 20940358 IBIS 25 / 7739
10
 (HPO:0001808) Fragile nails rare [HPO:skoehler] 22795705 IBIS 21 / 7739
11
 (HPO:0002224) Woolly hair 16628197 IBIS 26 / 7739
12
 (HPO:0001820) Leukonychia rare [HPO:skoehler] 22795705 IBIS 18 / 7739
13
 (HPO:0009804) Reduced number of teeth variable [HPO:skoehler] 22795705 IBIS 137 / 7739
14
 (HPO:0001592) Selective tooth agenesis 22795705 IBIS 16 / 7739
15
 (HPO:0000677) Oligodontia 20940358 IBIS 41 / 7739
16
 (HPO:0000962) Hyperkeratosis 16628197 IBIS 216 / 7739
17
 (HPO:0000982) Palmoplantar keratoderma 16628197 IBIS 40 / 7739
18
 (HPO:0002617) Aneurysm 22795705 IBIS 34 / 7739
19
 (MedDRA:10040849) Skin fissures 16628197 IBIS 3 / 7739
20
 (OMIM) Fibro-fatty replacement of right ventricular myocardium. 20940358 IBIS 4 / 7739
21
 (OMIM) Keratoderma of palms and soles 16628197 IBIS 2 / 7739
22
 (OMIM) Psoriasiform skin lesions 16628197 IBIS 2 / 7739

Associated genes:

DSP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DSP rs606231293 pathogenic RCV000144959.2
DSP rs606231294 pathogenic RCV000144960.2
DSP rs606231295 pathogenic RCV000144961.2

Additional Information: