CMH12
MCID: CRD081
MIFTS: 39

Cardiomyopathy, Familial Hypertrophic, 12 (CMH12)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Name: Cardiomyopathy, Familial Hypertrophic, 12 56 13 71
Cmh12 56 12 73
Familial Hypertrophic Cardiomyopathy 12 29 6
Cardiomyopathy, Hypertrophic, 12 56 29
Hypertrophic Cardiomyopathy 12 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 12 39
Cardiomyopathy, Familial Hypertrophic 12 73
Cardiomyopathy Familial Hypertrophic 12 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
great variation in extent of hypertrophy in mutation-positive individuals


HPO:

31
cardiomyopathy, familial hypertrophic, 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110318
OMIM 56 612124
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
UMLS 71 C2677491

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial hypertrophic 12: 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, 12, also known as cmh12, is related to cardiomyopathy, familial hypertrophic, 6 and west nile fever. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (Cysteine And Glycine Rich Protein 3), and among its related pathways/superpathways are Innate Immune System and Immune response IL-2 activation and signaling pathway. Affiliated tissues include heart, breast and testes, and related phenotypes are sudden cardiac death and cardiomyopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the CSRP3 gene on chromosome 11p15.

More information from OMIM: 612124 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 12

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, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 6 10.1 DEFB105B DEFB105A
2 west nile fever 10.1 DEFB105B DEFB105A
3 osteopetrosis, autosomal recessive 2 10.1 DEFB105B DEFB105A
4 congenital bile acid synthesis defect 9.8 DEFB105B DEFB105A
5 infectious anterior uveitis 9.6 SOCS1 CISH
6 noonan syndrome 1 8.9 SOCS1 LDHD DDX41 CHRFAM7A

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 12:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 12

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 cardiomyopathy 31 HP:0001638
3 paroxysmal atrial fibrillation 31 HP:0004757
4 ventricular tachycardia 31 HP:0004756

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden cardiac death
hypertrophy, asymmetric septal (variable)
hypertrophy, concentric (variable)
tachycardia, ventricular
fibrillation, paroxysmal atrial

Clinical features from OMIM:

612124

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 12

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 12:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 12 29 CSRP3
2 Cardiomyopathy, Hypertrophic, 12 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 12:

40
Heart, Breast, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

(show all 27)
# Title Authors PMID Year
1
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 6 56
18505755 2008
2
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 56 6
12642359 2003
3
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
4
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
5
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
6
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
7
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
8
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
9
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
10
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
11
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
12
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
13
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
14
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
15
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
16
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
17
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
18
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
19
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
20
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
21
Perceptions of Risk of Cardiac Arrest in Individuals Living With a Cardiac Inherited Disease: Are the Doctor and the Patient on the Same Page? 61
31501048 2019
22
Pathology of sudden death during recreational sports in Spain. 61
23398926 2013
23
Relaxation in hypertrophic cardiomyopathy and hypertensive heart disease: relations between hypertrophy and diastolic function. 61
10814629 2000
24
[Multiple cavities in myocardium of left ventricle after irradiation therapy for breast cancer: a case report]. 61
10500975 1999
25
Coronary artery dimensions in primary and secondary left ventricular hypertrophy. 61
8772766 1996
26
Amiodarone reduces QT dispersion in patients with hypertrophic cardiomyopathy. 61
1428268 1992
27
High-energy phosphate metabolism of the myocardium in normal subjects and patients with various cardiomyopathies--the study using ECG gated MR spectroscopy with a localization technique. 61
1625368 1992

Variations for Cardiomyopathy, Familial Hypertrophic, 12

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

6 (show top 50) (show all 114) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSRP3 NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)SNV Pathogenic 8777 rs104894204 11:19209792-19209792 11:19188245-19188245
2 CSRP3 NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly)indel Pathogenic 8779 rs281865416 11:19209800-19209804 11:19188253-19188257
3 CSRP3 NM_003476.5(CSRP3):c.128del (p.Ala43fs)deletion Likely pathogenic 847161 11:19209836-19209836 11:19188289-19188289
4 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)SNV Conflicting interpretations of pathogenicity 8778 rs104894205 11:19209833-19209833 11:19188286-19188286
5 CSRP3 NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)SNV Conflicting interpretations of pathogenicity 35966 rs193922667 11:19207812-19207812 11:19186265-19186265
6 CSRP3 NM_003476.5(CSRP3):c.213C>T (p.Ile71=)SNV Conflicting interpretations of pathogenicity 44692 rs45476991 11:19209751-19209751 11:19188204-19188204
7 CSRP3 NM_003476.5(CSRP3):c.299G>A (p.Arg100His)SNV Conflicting interpretations of pathogenicity 44694 rs138218523 11:19207878-19207878 11:19186331-19186331
8 CSRP3 NM_003476.5(CSRP3):c.162G>A (p.Ser54=)SNV Conflicting interpretations of pathogenicity 137035 rs112848043 11:19209802-19209802 11:19188255-19188255
9 CSRP3 NM_003476.4(CSRP3):c.-74A>CSNV Conflicting interpretations of pathogenicity 137036 rs45498797 11:19223546-19223546 11:19201999-19201999
10 CSRP3 NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)SNV Conflicting interpretations of pathogenicity 163013 rs185980145 11:19213980-19213980 11:19192433-19192433
11 CSRP3 NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)SNV Conflicting interpretations of pathogenicity 163007 rs142019584 11:19204266-19204266 11:19182719-19182719
12 CSRP3 NM_003476.5(CSRP3):c.*450T>GSNV Conflicting interpretations of pathogenicity 303948 rs45479995 11:19203767-19203767 11:19182220-19182220
13 CSRP3 NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)SNV Conflicting interpretations of pathogenicity 8776 rs45550635 11:19213986-19213986 11:19192439-19192439
14 CSRP3 NM_003476.5(CSRP3):c.174C>T (p.Cys58=)SNV Conflicting interpretations of pathogenicity 381101 rs1057520959 11:19209790-19209790 11:19188243-19188243
15 CSRP3 NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)SNV Conflicting interpretations of pathogenicity 219444 rs761507504 11:19206558-19206558 11:19185011-19185011
16 CSRP3 NM_003476.5(CSRP3):c.112+1G>ASNV Uncertain significance 222534 rs746990436 11:19213883-19213883 11:19192336-19192336
17 CSRP3 NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)SNV Uncertain significance 228543 rs876657767 11:19207823-19207823 11:19186276-19186276
18 CSRP3 NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu)SNV Uncertain significance 239543 rs878854613 11:19206555-19206555 11:19185008-19185008
19 CSRP3 NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys)SNV Uncertain significance 239542 rs763096875 11:19207825-19207825 11:19186278-19186278
20 CSRP3 NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro)SNV Uncertain significance 239541 rs760832923 11:19209695-19209695 11:19188148-19188148
21 CSRP3 NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys)SNV Uncertain significance 239540 rs780917755 11:19209708-19209708 11:19188161-19188161
22 CSRP3 NM_003476.5(CSRP3):c.537G>A (p.Thr179=)SNV Uncertain significance 303951 rs886048096 11:19204265-19204265 11:19182718-19182718
23 CSRP3 NM_003476.5(CSRP3):c.414+6A>GSNV Uncertain significance 303953 rs745491806 11:19207757-19207757 11:19186210-19186210
24 CSRP3 NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)SNV Uncertain significance 303954 rs746707959 11:19207875-19207875 11:19186328-19186328
25 CSRP3 NM_003476.4(CSRP3):c.-163A>GSNV Uncertain significance 303960 rs112672382 11:19232042-19232042 11:19210495-19210495
26 CSRP3 NM_003476.5(CSRP3):c.*575T>CSNV Uncertain significance 303946 rs886048093 11:19203642-19203642 11:19182095-19182095
27 CSRP3 NM_003476.5(CSRP3):c.*159C>TSNV Uncertain significance 303950 rs886048095 11:19204058-19204058 11:19182511-19182511
28 CSRP3 NM_003476.4(CSRP3):c.-157G>ASNV Uncertain significance 303956 rs886048099 11:19232036-19232036 11:19210489-19210489
29 CSRP3 NM_003476.4(CSRP3):c.-158A>GSNV Uncertain significance 303957 rs886048100 11:19232037-19232037 11:19210490-19210490
30 CSRP3 NM_003476.4(CSRP3):c.-195G>ASNV Uncertain significance 303963 rs569978006 11:19232074-19232074 11:19210527-19210527
31 CSRP3 NM_003476.5(CSRP3):c.*638T>CSNV Uncertain significance 303944 rs779532194 11:19203579-19203579 11:19182032-19182032
32 CSRP3 NM_003476.5(CSRP3):c.*504A>GSNV Uncertain significance 303947 rs886048094 11:19203713-19203713 11:19182166-19182166
33 CSRP3 NM_003476.5(CSRP3):c.*245T>CSNV Uncertain significance 303949 rs369635973 11:19203972-19203972 11:19182425-19182425
34 CSRP3 NM_003476.5(CSRP3):c.415-11G>TSNV Uncertain significance 303952 rs886048097 11:19206603-19206603 11:19185056-19185056
35 CSRP3 NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)SNV Uncertain significance 163012 rs367827746 11:19209699-19209699 11:19188152-19188152
36 CSRP3 NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)SNV Uncertain significance 44697 rs149201422 11:19207798-19207798 11:19186251-19186251
37 CSRP3 NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)SNV Uncertain significance 44701 rs397516859 11:19204267-19204267 11:19182720-19182720
38 CSRP3 NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)SNV Uncertain significance 201695 rs111868331 11:19204258-19204258 11:19182711-19182711
39 CSRP3 NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser)SNV Uncertain significance 201694 rs746207 11:19209735-19209735 11:19188188-19188188
40 CSRP3 NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn)SNV Uncertain significance 201692 rs372717179 11:19213910-19213910 11:19192363-19192363
41 CSRP3 NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter)SNV Uncertain significance 216572 rs863224716 11:19207840-19207840 11:19186293-19186293
42 CSRP3 NM_003476.5(CSRP3):c.437G>A (p.Arg146His)SNV Uncertain significance 163009 rs377066670 11:19206570-19206570 11:19185023-19185023
43 CSRP3 NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)SNV Uncertain significance 178014 rs727504436 11:19209692-19209692 11:19188145-19188145
44 CSRP3 NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr)SNV Uncertain significance 44687 rs145300736 11:19209816-19209816 11:19188269-19188269
45 CSRP3 NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser)SNV Uncertain significance 543039 rs749002955 11:19204270-19204270 11:19182723-19182723
46 CSRP3 NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln)SNV Uncertain significance 543037 rs777883490 11:19213956-19213956 11:19192409-19192409
47 CSRP3 NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)SNV Uncertain significance 8780 rs137852764 11:19209758-19209758 11:19188211-19188211
48 CSRP3 NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)SNV Uncertain significance 8781 rs137852765 11:19209828-19209828 11:19188281-19188281
49 CSRP3 NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser)SNV Uncertain significance 835944 11:19209837-19209837 11:19188290-19188290
50 CSRP3 NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu)SNV Uncertain significance 859311 11:19213979-19213979 11:19192432-19192432

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

73
# Symbol AA change Variation ID SNP ID
1 CSRP3 p.Leu44Pro VAR_045932 rs104894205
2 CSRP3 p.Cys58Gly VAR_045934 rs104894204

Expression for Cardiomyopathy, Familial Hypertrophic, 12

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 12.

Pathways for Cardiomyopathy, Familial Hypertrophic, 12

Pathways related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 TNFRSF17 SOCS1 DEFB105B DEFB105A DEFB103B DEFB103A
2
Show member pathways
11.28 SOCS1 CISH
3
Show member pathways
11.26 DEFB105B DEFB105A DEFB103B DEFB103A
4
Show member pathways
10.77 SOCS1 CISH

GO Terms for Cardiomyopathy, Familial Hypertrophic, 12

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 SOCS1 CISH

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.46 SOCS1 CISH
2 antimicrobial humoral response GO:0019730 9.43 DEFB103B DEFB103A
3 positive chemotaxis GO:0050918 9.4 DEFB103B DEFB103A
4 killing of cells of other organism GO:0031640 9.37 DEFB103B DEFB103A
5 interleukin-7-mediated signaling pathway GO:0038111 9.32 SOCS1 CISH
6 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.26 SOCS1 CISH
7 defense response to bacterium GO:0042742 9.26 DEFB105B DEFB105A DEFB103B DEFB103A
8 killing by host of symbiont cells GO:0051873 9.16 DEFB103B DEFB103A
9 defense response GO:0006952 8.92 DEFB105B DEFB105A DEFB103B DEFB103A

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 9.16 DEFB103B DEFB103A
2 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 8.96 SOCS1 CISH
3 CCR6 chemokine receptor binding GO:0031731 8.62 DEFB103B DEFB103A

Sources for Cardiomyopathy, Familial Hypertrophic, 12

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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