CMH16
MCID: CRD148
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 16 (CMH16)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 16

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 16:

Name: Cardiomyopathy, Familial Hypertrophic, 16 58 13 74
Cmh16 58 12 76
Familial Hypertrophic Cardiomyopathy 16 30 6
Cardiomyopathy, Hypertrophic, Familial, Type 16 41
Cardiomyopathy, Familial Hypertrophic 16 76
Cardiomyopathy Familial Hypertrophic 16 12
Cardiomyopathy, Hypertrophic, 16 58
Hypertrophic Cardiomyopathy 16 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, familial hypertrophic, 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110322
OMIM 58 613838
MeSH 45 D024741
MedGen 43 C3151204
UMLS 74 C3151204

Summaries for Cardiomyopathy, Familial Hypertrophic, 16

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include heart, and 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.

Description from OMIM: 613838

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 16

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 16:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 ventricular tachycardia 33 occasional (7.5%) HP:0004756
3 asymmetric septal hypertrophy 33 occasional (7.5%) HP:0001670
4 left bundle branch block 33 occasional (7.5%) HP:0011713
5 left ventricular hypertrophy 33 HP:0001712

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MYOZ2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 16

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 16:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 16

Variations for Cardiomyopathy, Familial Hypertrophic, 16

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

76
# Symbol AA change Variation ID SNP ID
1 MYOZ2 p.Ser48Pro VAR_065469 rs199476398
2 MYOZ2 p.Ile246Met VAR_065470 rs140126678

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

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOZ2 NM_016599.4(MYOZ2): c.479C> T (p.Pro160Leu) single nucleotide variant Uncertain significance rs200791464 GRCh37 Chromosome 4, 120085468: 120085468
2 MYOZ2 NM_016599.4(MYOZ2): c.479C> T (p.Pro160Leu) single nucleotide variant Uncertain significance rs200791464 GRCh38 Chromosome 4, 119164313: 119164313
3 MYOZ2 NM_016599.4(MYOZ2): c.142T> C (p.Ser48Pro) single nucleotide variant Pathogenic rs199476398 GRCh37 Chromosome 4, 120072092: 120072092
4 MYOZ2 NM_016599.4(MYOZ2): c.142T> C (p.Ser48Pro) single nucleotide variant Pathogenic rs199476398 GRCh38 Chromosome 4, 119150937: 119150937
5 MYOZ2 NM_016599.4(MYOZ2): c.738A> G (p.Ile246Met) single nucleotide variant Likely benign rs140126678 GRCh37 Chromosome 4, 120107298: 120107298
6 MYOZ2 NM_016599.4(MYOZ2): c.738A> G (p.Ile246Met) single nucleotide variant Likely benign rs140126678 GRCh38 Chromosome 4, 119186143: 119186143
7 MYOZ2 NM_016599.4(MYOZ2): c.459A> G (p.Glu153=) single nucleotide variant Benign/Likely benign rs7687613 GRCh37 Chromosome 4, 120085448: 120085448
8 MYOZ2 NM_016599.4(MYOZ2): c.459A> G (p.Glu153=) single nucleotide variant Benign/Likely benign rs7687613 GRCh38 Chromosome 4, 119164293: 119164293
9 MYOZ2 NM_016599.4(MYOZ2): c.247-18A> G single nucleotide variant Benign rs11721566 GRCh37 Chromosome 4, 120079159: 120079159
10 MYOZ2 NM_016599.4(MYOZ2): c.247-18A> G single nucleotide variant Benign rs11721566 GRCh38 Chromosome 4, 119158004: 119158004
11 MYOZ2 NM_016599.4(MYOZ2): c.237A> G (p.Ala79=) single nucleotide variant Benign rs17851524 GRCh37 Chromosome 4, 120072187: 120072187
12 MYOZ2 NM_016599.4(MYOZ2): c.237A> G (p.Ala79=) single nucleotide variant Benign rs17851524 GRCh38 Chromosome 4, 119151032: 119151032
13 MYOZ2 NM_016599.4(MYOZ2): c.-3dupA insertion Benign rs397517288 GRCh37 Chromosome 4, 120057678: 120057678
14 MYOZ2 NM_016599.4(MYOZ2): c.-3dupA insertion Benign rs397517288 GRCh38 Chromosome 4, 119136523: 119136523
15 MYOZ2 NM_016599.4(MYOZ2): c.29A> C (p.Gln10Pro) single nucleotide variant Benign/Likely benign rs76757102 GRCh37 Chromosome 4, 120057709: 120057709
16 MYOZ2 NM_016599.4(MYOZ2): c.29A> C (p.Gln10Pro) single nucleotide variant Benign/Likely benign rs76757102 GRCh38 Chromosome 4, 119136554: 119136554
17 MYOZ2 NM_016599.4(MYOZ2): c.488T> C (p.Leu163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143345726 GRCh37 Chromosome 4, 120085477: 120085477
18 MYOZ2 NM_016599.4(MYOZ2): c.488T> C (p.Leu163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143345726 GRCh38 Chromosome 4, 119164322: 119164322
19 MYOZ2 NM_016599.4(MYOZ2): c.750C> T (p.Thr250=) single nucleotide variant Benign/Likely benign rs17049982 GRCh37 Chromosome 4, 120107310: 120107310
20 MYOZ2 NM_016599.4(MYOZ2): c.750C> T (p.Thr250=) single nucleotide variant Benign/Likely benign rs17049982 GRCh38 Chromosome 4, 119186155: 119186155
21 MYOZ2 NM_016599.4(MYOZ2): c.76+19C> T single nucleotide variant Benign rs77591499 GRCh37 Chromosome 4, 120057775: 120057775
22 MYOZ2 NM_016599.4(MYOZ2): c.76+19C> T single nucleotide variant Benign rs77591499 GRCh38 Chromosome 4, 119136620: 119136620
23 MYOZ2 NM_016599.4(MYOZ2): c.76+20G> A single nucleotide variant Benign rs113920336 GRCh37 Chromosome 4, 120057776: 120057776
24 MYOZ2 NM_016599.4(MYOZ2): c.76+20G> A single nucleotide variant Benign rs113920336 GRCh38 Chromosome 4, 119136621: 119136621
25 MYOZ2 NM_016599.4(MYOZ2): c.560+1G> T single nucleotide variant Uncertain significance rs760946395 GRCh38 Chromosome 4, 119164395: 119164395
26 MYOZ2 NM_016599.4(MYOZ2): c.560+1G> T single nucleotide variant Uncertain significance rs760946395 GRCh37 Chromosome 4, 120085550: 120085550
27 MYOZ2 NM_016599.4(MYOZ2): c.39G> A (p.Gln13=) single nucleotide variant Benign/Likely benign rs145688699 GRCh38 Chromosome 4, 119136564: 119136564
28 MYOZ2 NM_016599.4(MYOZ2): c.39G> A (p.Gln13=) single nucleotide variant Benign/Likely benign rs145688699 GRCh37 Chromosome 4, 120057719: 120057719
29 MYOZ2 NM_016599.4(MYOZ2): c.712G> A (p.Gly238Arg) single nucleotide variant Uncertain significance rs796785947 GRCh38 Chromosome 4, 119186117: 119186117
30 MYOZ2 NM_016599.4(MYOZ2): c.712G> A (p.Gly238Arg) single nucleotide variant Uncertain significance rs796785947 GRCh37 Chromosome 4, 120107272: 120107272
31 MYOZ2 NM_016599.4(MYOZ2): c.377-5C> T single nucleotide variant Likely benign rs752100244 GRCh38 Chromosome 4, 119164206: 119164206
32 MYOZ2 NM_016599.4(MYOZ2): c.377-5C> T single nucleotide variant Likely benign rs752100244 GRCh37 Chromosome 4, 120085361: 120085361
33 MYOZ2 NC_000004.11: g.120003195_120107431dup duplication Uncertain significance GRCh37 Chromosome 4, 120003195: 120107431

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....