CMH16
MCID: CRD148
MIFTS: 22

Cardiomyopathy, Familial Hypertrophic, 16 (CMH16)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 16

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 16:

Name: Cardiomyopathy, Familial Hypertrophic, 16 57 13 70
Cmh16 57 12 72
Familial Hypertrophic Cardiomyopathy 16 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 16 39
Cardiomyopathy, Familial Hypertrophic 16 72
Cardiomyopathy Familial Hypertrophic 16 12
Cardiomyopathy, Hypertrophic, 16 57
Hypertrophic Cardiomyopathy 16 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial hypertrophic, 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110322
OMIM® 57 613838
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C3151204
UMLS 70 C3151204

Summaries for Cardiomyopathy, Familial Hypertrophic, 16

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 16: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 16, is also known as cmh16. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 16 is MYOZ2 (Myozenin 2). Related phenotypes are atrial fibrillation and ventricular tachycardia

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYOZ2 gene on chromosome 4q26.

More information from OMIM: 613838 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 16

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 16:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 ventricular tachycardia 31 occasional (7.5%) HP:0004756
3 left bundle branch block 31 occasional (7.5%) HP:0011713
4 asymmetric septal hypertrophy 31 occasional (7.5%) HP:0001670
5 left ventricular hypertrophy 31 HP:0001712

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
left ventricular hypertrophy
atrial fibrillation (in some patients)
ventricular tachycardia (in some patients)
repolarization abnormalities
asymmetric septal hypertrophy (in some patients)
more

Clinical features from OMIM®:

613838 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 16

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 16

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 16

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 16:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 16 29 MYOZ2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 16

Publications for Cardiomyopathy, Familial Hypertrophic, 16

Articles related to Cardiomyopathy, Familial Hypertrophic, 16:

(showing 3, show less)
# Title Authors PMID Year
1
Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. 6 57
22987565 2013
2
Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. 6 57
17347475 2007
3
[Functional maneuvers for the diagnosis of hypertrophic cardiomyopathies with and without left ventricular outflow obstruction]. 61
8104697 1993

Variations for Cardiomyopathy, Familial Hypertrophic, 16

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 16:

6 (showing 17, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYOZ2 NM_016599.4(MYOZ2):c.142T>C (p.Ser48Pro) SNV Pathogenic 30508 rs199476398 GRCh37: 4:120072092-120072092
GRCh38: 4:119150937-119150937
2 MYOZ2 NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) SNV Pathogenic 30509 rs140126678 GRCh37: 4:120107298-120107298
GRCh38: 4:119186143-119186143
3 MYOZ2 NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) SNV Uncertain significance 45784 rs143345726 GRCh37: 4:120085477-120085477
GRCh38: 4:119164322-119164322
4 MYOZ2 NM_016599.4(MYOZ2):c.479C>T (p.Pro160Leu) SNV Uncertain significance 213655 rs200791464 GRCh37: 4:120085468-120085468
GRCh38: 4:119164313-119164313
5 MYOZ2 NM_016599.4(MYOZ2):c.560+1G>T SNV Uncertain significance 225418 rs760946395 GRCh37: 4:120085550-120085550
GRCh38: 4:119164395-119164395
6 MYOZ2 NM_016599.4(MYOZ2):c.712G>A (p.Gly238Arg) SNV Uncertain significance 347407 rs796785947 GRCh37: 4:120107272-120107272
GRCh38: 4:119186117-119186117
7 MYOZ2 Duplication Uncertain significance 560148 GRCh37: 4:120003195-120107431
GRCh38:
8 MYOZ2 NM_016599.4(MYOZ2):c.76+20G>A SNV Likely benign 138410 rs113920336 GRCh37: 4:120057776-120057776
GRCh38: 4:119136621-119136621
9 MYOZ2 NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) SNV Likely benign 227711 rs145688699 GRCh37: 4:120057719-120057719
GRCh38: 4:119136564-119136564
10 MYOZ2 NM_016599.4(MYOZ2):c.377-5C>T SNV Likely benign 518351 rs752100244 GRCh37: 4:120085361-120085361
GRCh38: 4:119164206-119164206
11 MYOZ2 NM_016599.4(MYOZ2):c.76+19C>T SNV Benign 138409 rs77591499 GRCh37: 4:120057775-120057775
GRCh38: 4:119136620-119136620
12 MYOZ2 NM_016599.4(MYOZ2):c.247-18A>G SNV Benign 31787 rs11721566 GRCh37: 4:120079159-120079159
GRCh38: 4:119158004-119158004
13 MYOZ2 NM_016599.5(MYOZ2):c.-3dup Duplication Benign 45778 rs397517288 GRCh37: 4:120057671-120057672
GRCh38: 4:119136516-119136517
14 MYOZ2 NM_016599.5(MYOZ2):c.459A>G (p.Glu153=) SNV Benign 31786 rs7687613 GRCh37: 4:120085448-120085448
GRCh38: 4:119164293-119164293
15 MYOZ2 NM_016599.5(MYOZ2):c.750C>T (p.Thr250=) SNV Benign 45787 rs17049982 GRCh37: 4:120107310-120107310
GRCh38: 4:119186155-119186155
16 MYOZ2 NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) SNV Benign 31788 rs17851524 GRCh37: 4:120072187-120072187
GRCh38: 4:119151032-119151032
17 MYOZ2 NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) SNV Benign 45780 rs76757102 GRCh37: 4:120057709-120057709
GRCh38: 4:119136554-119136554

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 16:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 MYOZ2 p.Ser48Pro VAR_065469 rs199476398
2 MYOZ2 p.Ile246Met VAR_065470 rs140126678

Expression for Cardiomyopathy, Familial Hypertrophic, 16

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 16.

Pathways for Cardiomyopathy, Familial Hypertrophic, 16

GO Terms for Cardiomyopathy, Familial Hypertrophic, 16

Sources for Cardiomyopathy, Familial Hypertrophic, 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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