CMH3
MCID: CRD058
MIFTS: 36

Cardiomyopathy, Familial Hypertrophic, 3 (CMH3)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 3:

Name: Cardiomyopathy, Familial Hypertrophic, 3 56 13 71
Cmh3 56 12 73
Familial Hypertrophic Cardiomyopathy 3 29 6
Cardiomyopathy, Hypertrophic, 3 56 29
Hypertrophic Cardiomyopathy 3 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 3 39
Cardiomyopathy, Familial Hypertrophic 3 73
Cardiomyopathy Familial Hypertrophic 3 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant (15)
other forms at loci on chromosomes 1, 11, 14, and at least one other locus


HPO:

31
cardiomyopathy, familial hypertrophic, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110309
OMIM 56 115196
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
MedGen 41 C1861863
SNOMED-CT via HPO 68 233873004 263681008 45227007
UMLS 71 C1861863

Summaries for Cardiomyopathy, Familial Hypertrophic, 3

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial hypertrophic 3: 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, 3, also known as cmh3, is related to amyotrophic lateral sclerosis type 5 and megacystis-microcolon-intestinal hypoperistalsis syndrome. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (Tropomyosin 1), and among its related pathways/superpathways are MAPK Erk Pathway and Cardiac conduction. Affiliated tissues include heart and testes, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.

More information from OMIM: 115196 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 3

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 5 9.6 TMOD4 TMOD2
2 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.4 TMOD3 TMOD2 TMOD1
3 myopathy 9.3 TPM1 TMOD4 TMOD1 SERPINA3
4 congenital structural myopathy 9.2 TPM1 TMOD4 TMOD3 TMOD1

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 3

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 3:

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

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM:

115196

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Myocardial Deformation Parameters in Patients With Hypertrophic Cardiomyopathy Recruiting NCT04112511

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 3

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 3

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 3:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 3 29 TPM1
2 Cardiomyopathy, Hypertrophic, 3 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 3

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 3:

40
Heart, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 3

Articles related to Cardiomyopathy, Familial Hypertrophic, 3:

(show all 31)
# Title Authors PMID Year
1
Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. 56 6
11136687 2001
2
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 6 56
8205619 1994
3
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
4
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
5
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
6
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
7
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
8
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. 56
21823217 2011
9
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
10
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
11
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
12
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
13
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
14
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
15
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
16
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
17
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
18
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
19
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
20
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
21
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
22
Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. 56
10400910 1999
23
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. 56
9060904 1997
24
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
25
A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy. 6
7729014 1995
26
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 56
7898523 1995
27
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
28
Chromosomal localization and genomic cloning of the mouse alpha-tropomyosin gene Tpm-1. 56
8406508 1993
29
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. 56
8327508 1993
30
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
31
Plant growth-promoting bacteria facilitate the growth of barley and oats in salt-impacted soil: implications for phytoremediation of saline soils. 61
24933907 2014

Variations for Cardiomyopathy, Familial Hypertrophic, 3

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 3:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TPM1 NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)SNV Pathogenic 12455 rs104894502 15:63353114-63353114 15:63060915-63060915
2 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)SNV Pathogenic 12456 rs104894503 15:63353098-63353098 15:63060899-63060899
3 TPM1 NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)SNV Pathogenic 31884 rs199476317 15:63354462-63354462 15:63062263-63062263
4 TPM1 NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)SNV Pathogenic/Likely pathogenic 12457 rs104894504 15:63349227-63349227 15:63057028-63057028
5 TPM1 NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)SNV Pathogenic/Likely pathogenic 31882 rs199476315 15:63353922-63353922 15:63061723-63061723
6 TPM1 NM_001018005.2(TPM1):c.474C>T (p.Ala158=)SNV Conflicting interpretations of pathogenicity 702389 15:63351861-63351861 15:63059662-63059662
7 TPM1 NM_001018005.2(TPM1):c.27G>A (p.Gln9=)SNV Conflicting interpretations of pathogenicity 43410 rs397516365 15:63335055-63335055 15:63042856-63042856
8 TPM1 NM_001018005.2(TPM1):c.522C>T (p.Ser174=)SNV Conflicting interpretations of pathogenicity 43422 rs200173919 15:63353097-63353097 15:63060898-63060898
9 TPM1 NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)SNV Conflicting interpretations of pathogenicity 43449 rs397516395 15:63356335-63356335 15:63064136-63064136
10 TPM1 NM_001018005.2(TPM1):c.114+14C>TSNV Conflicting interpretations of pathogenicity 137697 rs576659891 15:63335156-63335156 15:63042957-63042957
11 TPM1 NM_001018005.2(TPM1):c.564-11G>ASNV Conflicting interpretations of pathogenicity 165570 rs532254032 15:63353901-63353901 15:63061702-63061702
12 TPM1 NM_001018005.2(TPM1):c.375-3C>TSNV Conflicting interpretations of pathogenicity 178146 rs202228866 15:63351759-63351759 15:63059560-63059560
13 TPM1 NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)SNV Conflicting interpretations of pathogenicity 181678 rs730881151 15:63335090-63335090 15:63042891-63042891
14 TPM1 NM_001018005.2(TPM1):c.249C>T (p.Ala83=)SNV Conflicting interpretations of pathogenicity 316687 rs200257214 15:63349192-63349192 15:63056993-63056993
15 TPM1 NM_001018005.2(TPM1):c.*145A>GSNV Uncertain significance 316692 rs148842623 15:63358243-63358243 15:63066044-63066044
16 TPM1 NM_001018005.1(TPM1):c.-114G>ASNV Uncertain significance 316683 rs886051319 15:63334915-63334915 15:63042716-63042716
17 TPM1 NM_001018005.1(TPM1):c.-94G>CSNV Uncertain significance 316685 rs530410579 15:63334935-63334935 15:63042736-63042736
18 TPM1 NM_001018005.2(TPM1):c.564-5A>TSNV Uncertain significance 316688 rs550286836 15:63353907-63353907 15:63061708-63061708
19 TPM1 NM_001018005.2(TPM1):c.*68A>GSNV Uncertain significance 316689 rs374459540 15:63358166-63358166 15:63065967-63065967
20 TPM1 NM_001018005.1(TPM1):c.-186G>ASNV Uncertain significance 316682 rs541046450 15:63334843-63334843 15:63042644-63042644
21 TPM1 NM_001018005.2(TPM1):c.*128C>TSNV Uncertain significance 888417 15:63358226-63358226 15:63066027-63066027
22 TPM1 NM_001018005.2(TPM1):c.*37G>ASNV Uncertain significance 887160 15:63358135-63358135 15:63065936-63065936
23 TPM1 NM_001018005.2(TPM1):c.*11T>GSNV Uncertain significance 887159 15:63358109-63358109 15:63065910-63065910
24 TPM1 NM_001018005.2(TPM1):c.840T>C (p.Asp280=)SNV Uncertain significance 887158 15:63356330-63356330 15:63064131-63064131
25 TPM1 NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys)SNV Uncertain significance 888353 15:63349214-63349214 15:63057015-63057015
26 TPM1 NM_001018005.2(TPM1):c.6C>T (p.Asp2=)SNV Uncertain significance 887085 15:63335034-63335034 15:63042835-63042835
27 TPM1 NM_001018005.2(TPM1):c.-47G>TSNV Uncertain significance 887084 15:63334982-63334982 15:63042783-63042783
28 TPM1 NC_000015.10:g.63042645G>CSNV Uncertain significance 886076 15:63334844-63334844 15:63042645-63042645
29 TPM1 NM_001018005.1(TPM1):c.-106C>TSNV Uncertain significance 316684 rs886051320 15:63334923-63334923 15:63042724-63042724
30 TPM1 NM_001018005.2(TPM1):c.493-6C>TSNV Uncertain significance 43421 rs397516374 15:63353062-63353062 15:63060863-63060863
31 TPM1 NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln)SNV Uncertain significance 813935 15:63349253-63349253 15:63057054-63057054
32 TPM1 NM_001018005.2(TPM1):c.772+17T>ASNV Uncertain significance 813934 15:63354861-63354861 15:63062662-63062662
33 TPM1 NM_001018005.2(TPM1):c.*209T>CSNV Uncertain significance 885310 15:63358307-63358307 15:63066108-63066108
34 TPM1 NM_001018005.2(TPM1):c.*76A>GSNV Likely benign 316690 rs140658011 15:63358174-63358174 15:63065975-63065975
35 TPM1 NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)SNV Benign/Likely benign 31889 rs11558747 15:63351873-63351873 15:63059674-63059674
36 TPM1 NM_001018005.2(TPM1):c.*148G>TSNV Benign/Likely benign 316693 rs7668 15:63358246-63358246 15:63066047-63066047
37 TPM1 NM_001018005.2(TPM1):c.453C>A (p.Ala151=)SNV Benign 31888 rs1071646 15:63351840-63351840 15:63059641-63059641

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 3:

73
# Symbol AA change Variation ID SNP ID
1 TPM1 p.Asp175Asn VAR_007601 rs104894503
2 TPM1 p.Glu180Gly VAR_007602 rs104894502
3 TPM1 p.Ala63Val VAR_013135 rs199476306
4 TPM1 p.Glu180Val VAR_029452 rs104894502

Expression for Cardiomyopathy, Familial Hypertrophic, 3

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 3.

Pathways for Cardiomyopathy, Familial Hypertrophic, 3

GO Terms for Cardiomyopathy, Familial Hypertrophic, 3

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.55 TPM1 TMOD4 TMOD3 TMOD2 TMOD1
2 actin filament GO:0005884 9.32 TPM1 TMOD1
3 sarcomere GO:0030017 9.26 TPM1 TMOD1
4 striated muscle thin filament GO:0005865 9.26 TMOD4 TMOD3 TMOD2 TMOD1
5 myofibril GO:0030016 9.02 TPM1 TMOD4 TMOD3 TMOD2 TMOD1

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.65 TPM1 TMOD4 TMOD3 TMOD2 TMOD1
2 muscle contraction GO:0006936 9.55 TPM1 TMOD4 TMOD3 TMOD2 TMOD1
3 muscle filament sliding GO:0030049 9.32 TPM1 TMOD1
4 myofibril assembly GO:0030239 9.26 TMOD4 TMOD3 TMOD2 TMOD1
5 pointed-end actin filament capping GO:0051694 8.92 TMOD4 TMOD3 TMOD2 TMOD1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 TPM1 TMOD4 TMOD3 TMOD2 TMOD1
2 actin filament binding GO:0051015 9.33 TPM1 TMOD4 TMOD1
3 tropomyosin binding GO:0005523 8.92 TMOD4 TMOD3 TMOD2 TMOD1

Sources for Cardiomyopathy, Familial Hypertrophic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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