Cardiomyopathy, familial hypertrophic, 20

General Information (adopted from Orphanet):

Synonyms, Signs: CMH20
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613876
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 20970104 [IBIS]
Inheritance: Autosomal dominant
Monogenic
- PMID: 20970104 [IBIS]
Age of onset: Childhood
Adolescent
Adult
- PMID: 20970104 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 20 is caused by mutations in NEXN (PMID:20970104).

Symptom Information: Sort by abundance 

1
(HPO:0003115) Abnormal EKG 20970104 IBIS 44 / 7739
2
(HPO:0005135) EKG: T-wave abnormalities 20970104 IBIS 19 / 7739
3
(HPO:0003116) Abnormal echocardiogram 20970104 IBIS 33 / 7739
4
(HPO:0005110) Atrial fibrillation 20970104 IBIS 71 / 7739
5
(HPO:0001712) Left ventricular hypertrophy 20970104 IBIS 76 / 7739
6
(HPO:0001639) Hypertrophic cardiomyopathy 20970104 IBIS 137 / 7739
7
(HPO:0001670) Asymmetric septal hypertrophy 20970104 IBIS 19 / 7739
8
(MedDRA:10061117) Electrocardiogram ST-T change 20970104 IBIS 2 / 7739
9
(OMIM) Left ventricular anterior wall hypertrophy (in some patients) 20970104 IBIS 1 / 7739

Associated genes:

NEXN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wang et al. (2010) studied 2 Han Chinese families with hypertrophic cardiomyopathy (CMH). In the first family, the 37-year-old female proband had nonobstructive cardiac hypertrophy with an interventricular septal thickness of 21 mm and normal left ventricular systolic ...
Molecular genetics OMIM Wang et al. (2010) analyzed the NEXN gene in 121 unrelated Han Chinese patients with CMH who were negative for mutations in 8 common myofilament-associated genes responsible for CMH, and they identified 2 heterozygous missense mutations in 2 ...