MCID: CRD148
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 16

Categories: Genetic diseases, Cardiovascular 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 73
Cmh16 57 12 75
Familial Hypertrophic Cardiomyopathy 16 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 16 40
Cardiomyopathy, Familial Hypertrophic 16 75
Cardiomyopathy Familial Hypertrophic 16 12
Cardiomyopathy, Hypertrophic, 16 57
Hypertrophic Cardiomyopathy 16 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613838
Disease Ontology 12 DOID:0110322
MedGen 42 C3151204
MeSH 44 D024741
UMLS 73 C3151204

Summaries for Cardiomyopathy, Familial Hypertrophic, 16

UniProtKB/Swiss-Prot : 75 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 asymmetric septal hypertrophy and left ventricular hypertrophy

Disease Ontology : 12 A 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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

613838

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 16:

32
# Description HPO Frequency HPO Source Accession
1 asymmetric septal hypertrophy 32 occasional (7.5%) HP:0001670
2 left ventricular hypertrophy 32 HP:0001712
3 ventricular tachycardia 32 occasional (7.5%) HP:0004756
4 atrial fibrillation 32 occasional (7.5%) HP:0005110
5 left bundle branch block 32 occasional (7.5%) HP:0011713

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

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 16

Variations for Cardiomyopathy, Familial Hypertrophic, 16

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

75
# 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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOZ2 NM_016599.4(MYOZ2): c.142T> C (p.Ser48Pro) single nucleotide variant Pathogenic rs199476398 GRCh37 Chromosome 4, 120072092: 120072092
2 MYOZ2 NM_016599.4(MYOZ2): c.142T> C (p.Ser48Pro) single nucleotide variant Pathogenic rs199476398 GRCh38 Chromosome 4, 119150937: 119150937
3 MYOZ2 NM_016599.4(MYOZ2): c.479C> T (p.Pro160Leu) single nucleotide variant Uncertain significance rs200791464 GRCh37 Chromosome 4, 120085468: 120085468
4 MYOZ2 NM_016599.4(MYOZ2): c.479C> T (p.Pro160Leu) single nucleotide variant Uncertain significance rs200791464 GRCh38 Chromosome 4, 119164313: 119164313
5 MYOZ2 NM_016599.4(MYOZ2): c.560+1G> T single nucleotide variant Uncertain significance rs760946395 GRCh38 Chromosome 4, 119164395: 119164395
6 MYOZ2 NM_016599.4(MYOZ2): c.560+1G> T single nucleotide variant Uncertain significance rs760946395 GRCh37 Chromosome 4, 120085550: 120085550
7 MYOZ2 NM_016599.4(MYOZ2): c.39G> A (p.Gln13=) single nucleotide variant Benign/Likely benign rs145688699 GRCh38 Chromosome 4, 119136564: 119136564
8 MYOZ2 NM_016599.4(MYOZ2): c.39G> A (p.Gln13=) single nucleotide variant Benign/Likely benign rs145688699 GRCh37 Chromosome 4, 120057719: 120057719
9 MYOZ2 NM_016599.4(MYOZ2): c.712G> A (p.Gly238Arg) single nucleotide variant Uncertain significance rs796785947 GRCh38 Chromosome 4, 119186117: 119186117
10 MYOZ2 NM_016599.4(MYOZ2): c.712G> A (p.Gly238Arg) single nucleotide variant Uncertain significance rs796785947 GRCh37 Chromosome 4, 120107272: 120107272
11 MYOZ2 NM_016599.4(MYOZ2): c.377-5C> T single nucleotide variant Likely benign rs752100244 GRCh38 Chromosome 4, 119164206: 119164206
12 MYOZ2 NM_016599.4(MYOZ2): c.377-5C> T single nucleotide variant Likely benign rs752100244 GRCh37 Chromosome 4, 120085361: 120085361

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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