CMH12
MCID: CRD081
MIFTS: 34

Cardiomyopathy, Familial Hypertrophic, 12 (CMH12)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Name: Cardiomyopathy, Familial Hypertrophic, 12 57 13 70
Cmh12 57 12 72
Familial Hypertrophic Cardiomyopathy 12 29 6
Cardiomyopathy, Hypertrophic, 12 57 29
Hypertrophic Cardiomyopathy 12 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 12 39
Cardiomyopathy, Familial Hypertrophic 12 72
Cardiomyopathy Familial Hypertrophic 12 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 612124
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
UMLS 70 C2677491

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

UniProtKB/Swiss-Prot : 72 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 dermatitis, atopic. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (Cysteine And Glycine Rich Protein 3), and among its related pathways/superpathways are Defensins and NOD-like receptor signaling pathway. 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

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®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
sudden cardiac death
hypertrophy, asymmetric septal (variable)
hypertrophy, concentric (variable)
tachycardia, ventricular
fibrillation, paroxysmal atrial

Clinical features from OMIM®:

612124 (Updated 20-May-2021)

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

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

(show all 16)
# Title Authors PMID Year
1
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 6 57
18505755 2008
2
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 6 57
12642359 2003
3
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 6
30048712 2018
4
MLP and CARP are linked to chronic PKCĪ± signalling in dilated cardiomyopathy. 6
27353086 2016
5
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 6
25351510 2015
6
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 6
23396983 2013
7
Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting. 6
21425739 2011
8
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 6
16352453 2006
9
Non-invasive detection of exercise-induced cardiac conduction abnormalities in sudden cardiac death survivors in the inherited cardiac conditions. 61
33083839 2021
10
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 2020
11
Pathology of sudden death during recreational sports in Spain. 61
23398926 2013
12
Relaxation in hypertrophic cardiomyopathy and hypertensive heart disease: relations between hypertrophy and diastolic function. 61
10814629 2000
13
[Multiple cavities in myocardium of left ventricle after irradiation therapy for breast cancer: a case report]. 61
10500975 1999
14
Coronary artery dimensions in primary and secondary left ventricular hypertrophy. 61
8772766 1996
15
Amiodarone reduces QT dispersion in patients with hypertrophic cardiomyopathy. 61
1428268 1992
16
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 156)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSRP3 NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) SNV Pathogenic 8781 rs137852765 GRCh37: 11:19209828-19209828
GRCh38: 11:19188281-19188281
2 CSRP3 NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) SNV Pathogenic 8777 rs104894204 GRCh37: 11:19209792-19209792
GRCh38: 11:19188245-19188245
3 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) SNV Pathogenic 8778 rs104894205 GRCh37: 11:19209833-19209833
GRCh38: 11:19188286-19188286
4 CSRP3 NM_003476.5(CSRP3):c.415-2A>C SNV Pathogenic 998301 GRCh37: 11:19206594-19206594
GRCh38: 11:19185047-19185047
5 CSRP3 NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) Indel Pathogenic 8779 rs281865416 GRCh37: 11:19209800-19209804
GRCh38: 11:19188253-19188257
6 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) SNV Pathogenic/Likely pathogenic 8778 rs104894205 GRCh37: 11:19209833-19209833
GRCh38: 11:19188286-19188286
7 CSRP3 NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) SNV Likely pathogenic 163007 rs142019584 GRCh37: 11:19204266-19204266
GRCh38: 11:19182719-19182719
8 CSRP3 NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) SNV Likely pathogenic 219444 rs761507504 GRCh37: 11:19206558-19206558
GRCh38: 11:19185011-19185011
9 CSRP3 NM_003476.5(CSRP3):c.128del (p.Ala43fs) Deletion Likely pathogenic 847161 GRCh37: 11:19209836-19209836
GRCh38: 11:19188289-19188289
10 CSRP3 NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) SNV Uncertain significance 851709 GRCh37: 11:19207879-19207879
GRCh38: 11:19186332-19186332
11 CSRP3 NM_003476.5(CSRP3):c.174C>T (p.Cys58=) SNV Uncertain significance 381101 rs1057520959 GRCh37: 11:19209790-19209790
GRCh38: 11:19188243-19188243
12 CSRP3 NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs) Microsatellite Uncertain significance 855956 GRCh37: 11:19206549-19206550
GRCh38: 11:19185002-19185003
13 CSRP3 NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) SNV Uncertain significance 858415 GRCh37: 11:19207891-19207891
GRCh38: 11:19186344-19186344
14 CSRP3 NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) SNV Uncertain significance 859311 GRCh37: 11:19213979-19213979
GRCh38: 11:19192432-19192432
15 CSRP3 NM_003476.5(CSRP3):c.228C>T (p.Gly76=) SNV Uncertain significance 861575 GRCh37: 11:19209736-19209736
GRCh38: 11:19188189-19188189
16 CSRP3 NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) SNV Uncertain significance 863545 GRCh37: 11:19207893-19207893
GRCh38: 11:19186346-19186346
17 CSRP3 NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) SNV Uncertain significance 426380 rs376198883 GRCh37: 11:19206571-19206571
GRCh38: 11:19185024-19185024
18 CSRP3 NC_000011.10:g.(?_19184942)_(19188314_?)del Deletion Uncertain significance 831881 GRCh37: 11:19206489-19209861
GRCh38:
19 CSRP3 NM_003476.5(CSRP3):c.415-1G>A SNV Uncertain significance 834445 GRCh37: 11:19206593-19206593
GRCh38: 11:19185046-19185046
20 CSRP3 NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) SNV Uncertain significance 835944 GRCh37: 11:19209837-19209837
GRCh38: 11:19188290-19188290
21 CSRP3 NM_003476.5(CSRP3):c.112+1G>A SNV Uncertain significance 222534 rs746990436 GRCh37: 11:19213883-19213883
GRCh38: 11:19192336-19192336
22 CSRP3 NM_003476.5(CSRP3):c.514T>C (p.Tyr172His) SNV Uncertain significance 836572 GRCh37: 11:19204288-19204288
GRCh38: 11:19182741-19182741
23 CSRP3 NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) SNV Uncertain significance 836666 GRCh37: 11:19207808-19207808
GRCh38: 11:19186261-19186261
24 CSRP3 NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) SNV Uncertain significance 228543 rs876657767 GRCh37: 11:19207823-19207823
GRCh38: 11:19186276-19186276
25 CSRP3 NM_003476.5(CSRP3):c.518C>T (p.Ala173Val) SNV Uncertain significance 842508 GRCh37: 11:19204284-19204284
GRCh38: 11:19182737-19182737
26 CSRP3 NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe) SNV Uncertain significance 846160 GRCh37: 11:19206562-19206562
GRCh38: 11:19185015-19185015
27 CSRP3 , CSRP3-AS1 NC_000011.10:g.19210543G>A SNV Uncertain significance 877187 GRCh37: 11:19232090-19232090
GRCh38: 11:19210543-19210543
28 CSRP3 NM_003476.5(CSRP3):c.*559G>A SNV Uncertain significance 878158 GRCh37: 11:19203658-19203658
GRCh38: 11:19182111-19182111
29 CSRP3 NM_003476.5(CSRP3):c.*415A>G SNV Uncertain significance 878159 GRCh37: 11:19203802-19203802
GRCh38: 11:19182255-19182255
30 CSRP3 NM_003476.5(CSRP3):c.*292A>T SNV Uncertain significance 878160 GRCh37: 11:19203925-19203925
GRCh38: 11:19182378-19182378
31 CSRP3 NM_003476.5(CSRP3):c.299G>A (p.Arg100His) SNV Uncertain significance 44694 rs138218523 GRCh37: 11:19207878-19207878
GRCh38: 11:19186331-19186331
32 CSRP3 NM_003476.5(CSRP3):c.282-15G>C SNV Uncertain significance 879980 GRCh37: 11:19207910-19207910
GRCh38: 11:19186363-19186363
33 CSRP3 NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) SNV Uncertain significance 163012 rs367827746 GRCh37: 11:19209699-19209699
GRCh38: 11:19188152-19188152
34 CSRP3 NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu) SNV Uncertain significance 879981 GRCh37: 11:19209743-19209743
GRCh38: 11:19188196-19188196
35 CSRP3 NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp) SNV Uncertain significance 879982 GRCh37: 11:19209750-19209750
GRCh38: 11:19188203-19188203
36 CSRP3 NM_003476.5(CSRP3):c.162G>A (p.Ser54=) SNV Uncertain significance 137035 rs112848043 GRCh37: 11:19209802-19209802
GRCh38: 11:19188255-19188255
37 CSRP3 NM_003476.5(CSRP3):c.-28-17G>T SNV Uncertain significance 930263 GRCh37: 11:19214040-19214040
GRCh38: 11:19192493-19192493
38 CSRP3 NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) SNV Uncertain significance 934985 GRCh37: 11:19209815-19209815
GRCh38: 11:19188268-19188268
39 CSRP3 NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) SNV Uncertain significance 944590 GRCh37: 11:19209796-19209796
GRCh38: 11:19188249-19188249
40 CSRP3 NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys) SNV Uncertain significance 950593 GRCh37: 11:19207768-19207768
GRCh38: 11:19186221-19186221
41 CSRP3 NM_003476.5(CSRP3):c.93C>G (p.His31Gln) SNV Uncertain significance 217825 rs863225265 GRCh37: 11:19213903-19213903
GRCh38: 11:19192356-19192356
42 CSRP3 NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) SNV Uncertain significance 958665 GRCh37: 11:19209699-19209699
GRCh38: 11:19188152-19188152
43 CSRP3 NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) SNV Uncertain significance 960236 GRCh37: 11:19209815-19209815
GRCh38: 11:19188268-19188268
44 CSRP3 NM_003476.5(CSRP3):c.285C>A (p.Ser95=) SNV Uncertain significance 962276 GRCh37: 11:19207892-19207892
GRCh38: 11:19186345-19186345
45 CSRP3 NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile) SNV Uncertain significance 963688 GRCh37: 11:19207866-19207866
GRCh38: 11:19186319-19186319
46 CSRP3 NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg) SNV Uncertain significance 963816 GRCh37: 11:19206548-19206548
GRCh38: 11:19185001-19185001
47 CSRP3 NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly) SNV Uncertain significance 968411 GRCh37: 11:19209848-19209848
GRCh38: 11:19188301-19188301
48 CSRP3 NM_003476.5(CSRP3):c.562_564CAA[1] (p.Gln189del) Microsatellite Uncertain significance 451189 rs1173035411 GRCh37: 11:19204235-19204237
GRCh38: 11:19182688-19182690
49 CSRP3 NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) SNV Uncertain significance 404174 rs45531937 GRCh37: 11:19213974-19213974
GRCh38: 11:19192427-19192427
50 CSRP3 NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser) SNV Uncertain significance 1005786 GRCh37: 11:19209813-19209813
GRCh38: 11:19188266-19188266

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

72
# 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
11.49 DEFB103B DEFB103A
2 11.21 DEFB103B DEFB103A
3 10.61 DEFB103B DEFB103A

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 Golgi lumen GO:0005796 8.62 DEFB103B DEFB103A

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

# Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 9.46 DEFB103B DEFB103A
2 defense response GO:0006952 9.43 DEFB103B DEFB103A
3 defense response to Gram-positive bacterium GO:0050830 9.4 DEFB103B DEFB103A
4 cell chemotaxis GO:0060326 9.37 DEFB103B DEFB103A
5 defense response to Gram-negative bacterium GO:0050829 9.32 DEFB103B DEFB103A
6 antimicrobial humoral response GO:0019730 9.26 DEFB103B DEFB103A
7 positive chemotaxis GO:0050918 9.16 DEFB103B DEFB103A
8 killing of cells of other organism GO:0031640 8.96 DEFB103B DEFB103A
9 killing by host of symbiont cells GO:0051873 8.62 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 8.96 DEFB103B DEFB103A
2 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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