CMH3
MCID: CRD058
MIFTS: 33

Cardiomyopathy, Familial Hypertrophic, 3 (CMH3)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 3:

Name: Cardiomyopathy, Familial Hypertrophic, 3 57 13 71
Cmh3 57 12 73
Familial Hypertrophic Cardiomyopathy 3 29 6
Cardiomyopathy, Hypertrophic, 3 57 29
Hypertrophic Cardiomyopathy 3 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 3 39
Cardiomyopathy, Familial Hypertrophic 3 73
Cardiomyopathy Familial Hypertrophic 3 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 115196
OMIM Phenotypic Series 57 PS192600
MeSH 44 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 hypomyelinating leukodystrophy and intrinsic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (Tropomyosin 1), and among its related pathways/superpathways are Cardiac conduction and Actin Dynamics Signaling Pathway. 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 hypomyelinating leukodystrophy 9.9 SERPINA3 ATRN
2 intrinsic cardiomyopathy 9.8 TPM1 SERPINA3
3 amyotrophic lateral sclerosis type 5 9.7 TMOD4 TMOD2
4 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.7 TMOD3 TMOD2 TMOD1
5 cardiomyopathy, familial hypertrophic, 1 9.6 TPM1 TMOD2 TMOD1
6 congenital structural myopathy 9.4 TMOD4 TMOD3 TMOD1
7 myopathy 9.3 TPM1 TMOD4 TMOD1 SERPINA3

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 3:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 3

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®:

57 (Updated 05-Mar-2021)
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM®:

115196 (Updated 05-Mar-2021)

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

Search Clinical Trials , 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

Publications for Cardiomyopathy, Familial Hypertrophic, 3

Articles related to Cardiomyopathy, Familial Hypertrophic, 3:

# 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. 57 6
11136687 2001
2
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 57 6
8205619 1994
3
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. 57
21823217 2011
4
Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction. 57
10400910 1999
5
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. 57
9060904 1997
6
A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy. 6
7729014 1995
7
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 57
7898523 1995
8
Chromosomal localization and genomic cloning of the mouse alpha-tropomyosin gene Tpm-1. 57
8406508 1993
9
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. 57
8327508 1993
10
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 40)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TPM1 NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) SNV Pathogenic 31882 rs199476315 15:63353922-63353922 15:63061723-63061723
2 TPM1 NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) SNV Pathogenic 12455 rs104894502 15:63353114-63353114 15:63060915-63060915
3 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) SNV Pathogenic 12456 rs104894503 15:63353098-63353098 15:63060899-63060899
4 TPM1 NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) SNV Pathogenic 12457 rs104894504 15:63349227-63349227 15:63057028-63057028
5 TPM1 NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) SNV Pathogenic 31884 rs199476317 15:63354462-63354462 15:63062263-63062263
6 TPM1 NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) SNV Likely pathogenic 181678 rs730881151 15:63335090-63335090 15:63042891-63042891
7 TPM1 NM_001018005.2(TPM1):c.*68A>G SNV Uncertain significance 316689 rs374459540 15:63358166-63358166 15:63065967-63065967
8 TPM1 NM_001018005.1(TPM1):c.-94G>C SNV Uncertain significance 316685 rs530410579 15:63334935-63334935 15:63042736-63042736
9 TPM1 NM_001018005.2(TPM1):c.564-5A>T SNV Uncertain significance 316688 rs550286836 15:63353907-63353907 15:63061708-63061708
10 TPM1 NM_001018005.2(TPM1):c.*145A>G SNV Uncertain significance 316692 rs148842623 15:63358243-63358243 15:63066044-63066044
11 TPM1 NM_001018005.2(TPM1):c.249C>T (p.Ala83=) SNV Uncertain significance 316687 rs200257214 15:63349192-63349192 15:63056993-63056993
12 TPM1 NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) SNV Uncertain significance 43449 rs397516395 15:63356335-63356335 15:63064136-63064136
13 TPM1 NM_001018005.2(TPM1):c.27G>A (p.Gln9=) SNV Uncertain significance 43410 rs397516365 15:63335055-63335055 15:63042856-63042856
14 TPM1 NM_001018005.2(TPM1):c.522C>T (p.Ser174=) SNV Uncertain significance 43422 rs200173919 15:63353097-63353097 15:63060898-63060898
15 TPM1 NM_001018005.1(TPM1):c.-106C>T SNV Uncertain significance 316684 rs886051320 15:63334923-63334923 15:63042724-63042724
16 TPM1 NM_001018005.1(TPM1):c.-114G>A SNV Uncertain significance 316683 rs886051319 15:63334915-63334915 15:63042716-63042716
17 TPM1 NM_001018005.2(TPM1):c.564-11G>A SNV Uncertain significance 165570 rs532254032 15:63353901-63353901 15:63061702-63061702
18 TPM1 NM_001018005.1(TPM1):c.-186G>A SNV Uncertain significance 316682 rs541046450 15:63334843-63334843 15:63042644-63042644
19 TPM1 NM_001018005.2(TPM1):c.772+17T>A SNV Uncertain significance 813934 rs1596386853 15:63354861-63354861 15:63062662-63062662
20 TPM1 NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln) SNV Uncertain significance 813935 rs1596361132 15:63349253-63349253 15:63057054-63057054
21 TPM1 NM_001018005.2(TPM1):c.474C>T (p.Ala158=) SNV Uncertain significance 702389 rs143922069 15:63351861-63351861 15:63059662-63059662
22 TPM1 NM_001018005.2(TPM1):c.*209T>C SNV Uncertain significance 885310 15:63358307-63358307 15:63066108-63066108
23 TPM1 NC_000015.10:g.63042645G>C SNV Uncertain significance 886076 15:63334844-63334844 15:63042645-63042645
24 TPM1 NM_001018005.2(TPM1):c.493-6C>T SNV Uncertain significance 43421 rs397516374 15:63353062-63353062 15:63060863-63060863
25 TPM1 NM_001018005.2(TPM1):c.-47G>T SNV Uncertain significance 887084 15:63334982-63334982 15:63042783-63042783
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.840T>C (p.Asp280=) SNV Uncertain significance 887158 15:63356330-63356330 15:63064131-63064131
28 TPM1 NM_001018005.2(TPM1):c.*11T>G SNV Uncertain significance 887159 15:63358109-63358109 15:63065910-63065910
29 TPM1 NM_001018005.2(TPM1):c.*37G>A SNV Uncertain significance 887160 15:63358135-63358135 15:63065936-63065936
30 TPM1 NM_001018005.2(TPM1):c.114+14C>T SNV Uncertain significance 137697 rs576659891 15:63335156-63335156 15:63042957-63042957
31 TPM1 NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) SNV Uncertain significance 888353 15:63349214-63349214 15:63057015-63057015
32 TPM1 NM_001018005.2(TPM1):c.375-3C>T SNV Uncertain significance 178146 rs202228866 15:63351759-63351759 15:63059560-63059560
33 TPM1 NM_001018005.2(TPM1):c.*128C>T SNV Uncertain significance 888417 15:63358226-63358226 15:63066027-63066027
34 TPM1 NM_001018005.2(TPM1):c.139C>G (p.Gln47Glu) SNV Uncertain significance 978232 15:63336250-63336250 15:63044051-63044051
35 TPM1 NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly) SNV Uncertain significance 626548 rs1566936237 15:63335134-63335134 15:63042935-63042935
36 TPM1 NM_001018005.2(TPM1):c.839A>C (p.Asp280Ala) SNV Uncertain significance 982845 15:63356329-63356329 15:63064130-63064130
37 TPM1 NM_001018005.2(TPM1):c.*76A>G SNV Likely benign 316690 rs140658011 15:63358174-63358174 15:63065975-63065975
38 TPM1 NM_001018005.2(TPM1):c.*148G>T SNV Benign 316693 rs7668 15:63358246-63358246 15:63066047-63066047
39 TPM1 NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) SNV Benign 31889 rs11558747 15:63351873-63351873 15:63059674-63059674
40 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 myofibril GO:0030016 9.26 TMOD4 TMOD3 TMOD2 TMOD1
5 striated muscle thin filament GO:0005865 8.92 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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