Cardiomyopathy, familial hypertrophic, 18

General Information (adopted from Orphanet):

Synonyms, Signs: CMH18
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613874
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 18 is caused by mutation in PLN.

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 16829191 IBIS 92 / 7739
2
(HPO:0001962) Palpitations 16829191 IBIS 62 / 7739
3
(HPO:0001712) Left ventricular hypertrophy 12705874 IBIS 76 / 7739
4
(HPO:0005110) Atrial fibrillation 12705874 IBIS 71 / 7739
5
(HPO:0001639) Hypertrophic cardiomyopathy 12705874 IBIS 137 / 7739
6
(HPO:0003115) Abnormal EKG 12705874 IBIS 44 / 7739
7
(MedDRA:10061117) Electrocardiogram ST-T change 12705874 IBIS 2 / 7739
8
(HPO:0030148) Heart murmur 12705874 IBIS 29 / 7739

Associated genes:

PLN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Minamisawa et al. (2003) studied a 2-generation family with hypertrophic cardiomyopathy (CMH) in which the female proband presented at 56 years of age with paroxysmal atrial fibrillation and was found to have left ventricular hypertrophy on electrocardiogram. Echocardiography ...
Molecular genetics OMIM Minamisawa et al. (2003) analyzed the candidate PLN gene in 87 patients with hypertrophic cardiomyopathy (CMH), 10 with dilated cardiomyopathy (CMD; see CMD1P, 609909), and 2 patients with restricted cardiomyopathy (RCM; see 115210). In the proband of a ...