CMH14
MCID: CRD089
MIFTS: 27

Cardiomyopathy, Familial Hypertrophic, 14 (CMH14)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 14

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 14:

Name: Cardiomyopathy, Familial Hypertrophic, 14 57 13 70
Cmh14 57 12 72
Familial Hypertrophic Cardiomyopathy 14 29 6
Cardiomyopathy, Hypertrophic, 14 57 29
Cardiomyopathy, Hypertrophic, Familial, Type 14 39
Cardiomyopathy, Familial Hypertrophic 14 72
Cardiomyopathy Familial Hypertrophic 14 12
Hypertrophic Cardiomyopathy 14 12

Characteristics:

OMIM®:

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

Miscellaneous:
variable age of onset from third to eighth decade of life


HPO:

31
cardiomyopathy, familial hypertrophic, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110320
OMIM® 57 613251
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C2750467
SNOMED-CT via HPO 68 233873004 263681008 45227007
UMLS 70 C2750467

Summaries for Cardiomyopathy, Familial Hypertrophic, 14

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 14: 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, 14, is also known as cmh14. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 14 is MYH6 (Myosin Heavy Chain 6). Affiliated tissues include heart, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in mutation in the MYH6 gene.

More information from OMIM: 613251 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 14

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 14:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 HP:0001639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
decreased left ventricular ejection fraction
increased left ventricular wall thickness
decreased left ventricular fractional shortening
ventricular outflow obstruction
progression to cardiac dilation
more

Clinical features from OMIM®:

613251 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 14

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 14

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 14

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 14:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 14 29 MYH6
2 Cardiomyopathy, Hypertrophic, 14 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 14

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 14:

40
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 14

Articles related to Cardiomyopathy, Familial Hypertrophic, 14:

# Title Authors PMID Year
1
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. 57 6
15998695 2005
2
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 57 6
11815426 2002
3
Risk Factors of Sudden Cardiac Death in the Young: Multiple-Year Community-Wide Assessment. 61
29269388 2018
4
Non-neurological, steroid-related adverse events in very low birth weight infants: a prospective audit. 61
24706463 2014
5
Lessons learned from preparticipation cardiovascular screening in a state funded program. 61
22704711 2012
6
Results of a multicenter retrospective implantable cardioverter-defibrillator registry of pediatric and congenital heart disease patients. 61
18436121 2008
7
[Clinical course of hypertrophic cardiomyopathy in a non selected population. The Experience of the Italian Multicenter Cardiomyopathy Study]. 61
9463057 1997

Variations for Cardiomyopathy, Familial Hypertrophic, 14

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 14:

6 (show top 50) (show all 650)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Likely pathogenic 14151 rs143978652 GRCh37: 14:23862646-23862646
GRCh38: 14:23393437-23393437
2 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Conflicting interpretations of pathogenicity 14151 rs143978652 GRCh37: 14:23862646-23862646
GRCh38: 14:23393437-23393437
3 MYH6 NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) SNV Conflicting interpretations of pathogenicity 44545 rs201327273 GRCh37: 14:23872631-23872631
GRCh38: 14:23403422-23403422
4 MYH6 NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) SNV Conflicting interpretations of pathogenicity 14149 rs267606904 GRCh37: 14:23862177-23862177
GRCh38: 14:23392968-23392968
5 MYH6 NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) SNV Conflicting interpretations of pathogenicity 180425 rs145611185 GRCh37: 14:23858107-23858107
GRCh38: 14:23388898-23388898
6 MYH6 NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) SNV Uncertain significance 164230 rs727503236 GRCh37: 14:23859490-23859490
GRCh38: 14:23390281-23390281
7 MYH6 NM_002471.3(MYH6):c.864C>G (p.Tyr288Ter) SNV Uncertain significance 656196 rs186265521 GRCh37: 14:23872591-23872591
GRCh38: 14:23403382-23403382
8 MYH6 NM_002471.3(MYH6):c.4920G>C (p.Glu1640Asp) SNV Uncertain significance 657864 rs777323881 GRCh37: 14:23855563-23855563
GRCh38: 14:23386354-23386354
9 MYH6 NM_002471.3(MYH6):c.4918G>A (p.Glu1640Lys) SNV Uncertain significance 222717 rs748924413 GRCh37: 14:23855565-23855565
GRCh38: 14:23386356-23386356
10 MYH6 NM_002471.3(MYH6):c.2141G>A (p.Arg714His) SNV Uncertain significance 312873 rs776602843 GRCh37: 14:23866199-23866199
GRCh38: 14:23396990-23396990
11 MYH6 NM_002471.3(MYH6):c.3625A>C (p.Ile1209Leu) SNV Uncertain significance 660750 rs776607405 GRCh37: 14:23859373-23859373
GRCh38: 14:23390164-23390164
12 MYH6 NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) SNV Uncertain significance 192122 rs200153625 GRCh37: 14:23863371-23863371
GRCh38: 14:23394162-23394162
13 MYH6 NM_002471.3(MYH6):c.1007C>G (p.Ala336Gly) SNV Uncertain significance 312879 rs138572790 GRCh37: 14:23871807-23871807
GRCh38: 14:23402598-23402598
14 MYH6 NM_002471.3(MYH6):c.5519A>G (p.Lys1840Arg) SNV Uncertain significance 264214 rs373629059 GRCh37: 14:23853697-23853697
GRCh38: 14:23384488-23384488
15 MYH6 NM_002471.3(MYH6):c.5348G>A (p.Arg1783His) SNV Uncertain significance 263508 rs745473249 GRCh37: 14:23853868-23853868
GRCh38: 14:23384659-23384659
16 MYH6 NM_002471.3(MYH6):c.2440C>A (p.Leu814Met) SNV Uncertain significance 312870 rs150675144 GRCh37: 14:23863522-23863522
GRCh38: 14:23394313-23394313
17 MYH6 NM_002471.3(MYH6):c.3476C>T (p.Thr1159Met) SNV Uncertain significance 470525 rs780305056 GRCh37: 14:23859522-23859522
GRCh38: 14:23390313-23390313
18 MYH6 NM_002471.3(MYH6):c.2383C>T (p.Arg795Trp) SNV Uncertain significance 470512 rs202120238 GRCh37: 14:23865539-23865539
GRCh38: 14:23396330-23396330
19 MYH6 NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile) SNV Uncertain significance 191709 rs201383498 GRCh37: 14:23855165-23855165
GRCh38: 14:23385956-23385956
20 MYH6 NM_002471.3(MYH6):c.5077G>A (p.Val1693Met) SNV Uncertain significance 373555 rs373457153 GRCh37: 14:23855223-23855223
GRCh38: 14:23386014-23386014
21 MYH6 NM_002471.3(MYH6):c.3604G>A (p.Val1202Met) SNV Uncertain significance 312860 rs368451573 GRCh37: 14:23859394-23859394
GRCh38: 14:23390185-23390185
22 MYH6 NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) SNV Uncertain significance 44469 rs376682837 GRCh37: 14:23863351-23863351
GRCh38: 14:23394142-23394142
23 MYH6 NM_002471.3(MYH6):c.2576G>C (p.Gly859Ala) SNV Uncertain significance 537946 rs779528748 GRCh37: 14:23863386-23863386
GRCh38: 14:23394177-23394177
24 MYH6 NM_002471.3(MYH6):c.1521T>G (p.Ile507Met) SNV Uncertain significance 432873 rs142410102 GRCh37: 14:23869525-23869525
GRCh38: 14:23400316-23400316
25 MYH6 NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala) SNV Uncertain significance 239163 rs759520932 GRCh37: 14:23870084-23870084
GRCh38: 14:23400875-23400875
26 LOC114827851 , MYH6 NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) SNV Uncertain significance 44474 rs140596256 GRCh37: 14:23874889-23874889
GRCh38: 14:23405680-23405680
27 LOC114827851 , MYH6 NM_002471.3(MYH6):c.115G>A (p.Val39Met) SNV Uncertain significance 191724 rs142850511 GRCh37: 14:23876318-23876318
GRCh38: 14:23407109-23407109
28 MYH6 NM_002471.3(MYH6):c.1868C>T (p.Ser623Phe) SNV Uncertain significance 642882 rs764362016 GRCh37: 14:23867960-23867960
GRCh38: 14:23398751-23398751
29 MYH6 NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) SNV Uncertain significance 14152 rs267606905 GRCh37: 14:23857123-23857123
GRCh38: 14:23387914-23387914
30 MYH6 NM_002471.3(MYH6):c.2828G>A (p.Arg943His) SNV Uncertain significance 626806 rs766640013 GRCh37: 14:23862975-23862975
GRCh38: 14:23393766-23393766
31 LOC114827851 , MYH6 NM_002471.4(MYH6):c.449C>G (p.Ala150Gly) SNV Uncertain significance 935896 GRCh37: 14:23874485-23874485
GRCh38: 14:23405276-23405276
32 MYH6 NM_002471.4(MYH6):c.2098G>A (p.Val700Met) SNV Uncertain significance 936597 GRCh37: 14:23866242-23866242
GRCh38: 14:23397033-23397033
33 MYH6 NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) SNV Uncertain significance 179607 rs533942127 GRCh37: 14:23858161-23858161
GRCh38: 14:23388952-23388952
34 MYH6 NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys) SNV Uncertain significance 941989 GRCh37: 14:23855733-23855733
GRCh38: 14:23386524-23386524
35 MYH6 NM_002471.4(MYH6):c.3872G>A (p.Arg1291Gln) SNV Uncertain significance 916412 GRCh37: 14:23858708-23858708
GRCh38: 14:23389499-23389499
36 MYH6 NM_002471.4(MYH6):c.1514A>C (p.Glu505Ala) SNV Uncertain significance 945756 GRCh37: 14:23869532-23869532
GRCh38: 14:23400323-23400323
37 MYH6 NM_002471.3(MYH6):c.731G>A (p.Arg244His) SNV Uncertain significance 191721 rs200645920 GRCh37: 14:23873509-23873509
GRCh38: 14:23404300-23404300
38 MYH6 NM_002471.3(MYH6):c.3607dup (p.Ala1203fs) Duplication Uncertain significance 265832 rs1114167343 GRCh37: 14:23859390-23859391
GRCh38: 14:23390181-23390182
39 MYH6 NM_002471.4(MYH6):c.3479C>A (p.Ser1160Tyr) SNV Uncertain significance 956452 GRCh37: 14:23859519-23859519
GRCh38: 14:23390310-23390310
40 MYH6 NM_002471.3(MYH6):c.5491G>A (p.Glu1831Lys) SNV Uncertain significance 196975 rs367834703 GRCh37: 14:23853725-23853725
GRCh38: 14:23384516-23384516
41 MYH6 NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys) SNV Uncertain significance 958487 GRCh37: 14:23871676-23871676
GRCh38: 14:23402467-23402467
42 LOC114827851 , MYH6 NM_002471.4(MYH6):c.265G>A (p.Asp89Asn) SNV Uncertain significance 961114 GRCh37: 14:23874916-23874916
GRCh38: 14:23405707-23405707
43 MYH6 NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile) SNV Uncertain significance 191709 rs201383498 GRCh37: 14:23855165-23855165
GRCh38: 14:23385956-23385956
44 MYH6 NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) SNV Uncertain significance 178868 rs727504502 GRCh37: 14:23855228-23855228
GRCh38: 14:23386019-23386019
45 MYH6 NM_002471.3(MYH6):c.4573G>A (p.Val1525Met) SNV Uncertain significance 520263 rs900579440 GRCh37: 14:23856815-23856815
GRCh38: 14:23387606-23387606
46 MYH6 NM_002471.3(MYH6):c.3979-2A>C SNV Uncertain significance 691732 rs1158854454 GRCh37: 14:23858266-23858266
GRCh38: 14:23389057-23389057
47 MYH6 NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) SNV Uncertain significance 418705 rs753444140 GRCh37: 14:23871706-23871706
GRCh38: 14:23402497-23402497
48 MYH6 NM_002471.3(MYH6):c.5687C>T (p.Ser1896Phe) SNV Uncertain significance 810746 rs1209697861 GRCh37: 14:23851746-23851746
GRCh38: 14:23382537-23382537
49 MYH6 NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) SNV Uncertain significance 179023 rs375169402 GRCh37: 14:23862152-23862152
GRCh38: 14:23392943-23392943
50 LOC114827851 , MYH6 NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) SNV Uncertain significance 164257 rs727503239 GRCh37: 14:23876272-23876272
GRCh38: 14:23407063-23407063

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 14:

72
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Arg795Gln VAR_031882 rs267606907
2 MYH6 p.Gln1065His VAR_063554 rs267606904

Expression for Cardiomyopathy, Familial Hypertrophic, 14

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 14.

Pathways for Cardiomyopathy, Familial Hypertrophic, 14

GO Terms for Cardiomyopathy, Familial Hypertrophic, 14

Sources for Cardiomyopathy, Familial Hypertrophic, 14

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
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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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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