Cardiomyopathy, dilated, 1KK

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1KK

Cardiomyopathy, familial restrictive, 4, included
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615248
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
22286171 [IBIS]
Age of onset: Adolescent
Adult
18006477 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

CMD1KK is caused by mutation in MYPN (PMID:18006477, PMID:22286171, PMID:22892539, PMID:26458567).

Symptom Information: Sort by abundance 

1
 (HPO:0001712) Left ventricular hypertrophy rare [HPO:skoehler] 18006477 IBIS 76 / 7739
2
 (HPO:0001653) Mitral regurgitation rare [HPO:skoehler] 18006477 IBIS 64 / 7739
3
 (HPO:0001639) Hypertrophic cardiomyopathy rare [HPO:skoehler] 22286171 IBIS 137 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy rare [HPO:skoehler] 22286171 IBIS 141 / 7739
5
 (HPO:0001723) Restrictive cardiomyopathy 22286171 IBIS 22 / 7739
6
 (HPO:0012664) Reduced ejection fraction 22286171 IBIS 32 / 7739
7
 (HPO:0012665) Moderately reduced ejection fraction 22286171 IBIS 4 / 7739
8
 (HPO:0011712) Right bundle branch block 18006477 IBIS 34 / 7739
9
 (HPO:0005110) Atrial fibrillation rare [HPO:skoehler] 18006477 IBIS 71 / 7739
10
 (HPO:0011713) Left bundle branch block 18006477 IBIS 30 / 7739
11
 (HPO:0001635) Congestive heart failure rare [HPO:skoehler] 18006477 IBIS 232 / 7739
12
 (HPO:0001699) Sudden death 22892539 IBIS 34 / 7739
13
 (HPO:0030682) Left ventricular noncompaction 22286171 IBIS 4 / 7739
14
 (MedDRA:10048815) Sinus rhythm 18006477 IBIS 3 / 7739

Associated genes:

MYPN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
MYPN rs140148105 pathogenic RCV000043546.2
MYPN rs71534278 pathogenic RCV000043541.2
MYPN rs71534280 pathogenic RCV000043543.2
MYPN rs71584501 pathogenic RCV000043540.2

Additional Information: