CMH12
MCID: CRD081
MIFTS: 35

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 71
Cmh12 57 12 73
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 73
Cardiomyopathy Familial Hypertrophic 12 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 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 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. Affiliated tissues include heart and breast, 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

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 05-Mar-2021)
Cardiovascular Heart:
sudden cardiac death
hypertrophy, asymmetric septal (variable)
hypertrophy, concentric (variable)
tachycardia, ventricular
fibrillation, paroxysmal atrial

Clinical features from OMIM®:

612124 (Updated 05-Mar-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

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

40
Heart, Breast

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

# 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
Non-invasive detection of exercise-induced cardiac conduction abnormalities in sudden cardiac death survivors in the inherited cardiac conditions. 61
33083839 2021
4
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
5
Pathology of sudden death during recreational sports in Spain. 61
23398926 2013
6
Relaxation in hypertrophic cardiomyopathy and hypertensive heart disease: relations between hypertrophy and diastolic function. 61
10814629 2000
7
[Multiple cavities in myocardium of left ventricle after irradiation therapy for breast cancer: a case report]. 61
10500975 1999
8
Coronary artery dimensions in primary and secondary left ventricular hypertrophy. 61
8772766 1996
9
Amiodarone reduces QT dispersion in patients with hypertrophic cardiomyopathy. 61
1428268 1992
10
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 138)
# 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.136A>C (p.Ser46Arg) SNV Pathogenic 8781 rs137852765 11:19209828-19209828 11:19188281-19188281
3 CSRP3 NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) Indel Pathogenic 8779 rs281865416 11:19209800-19209804 11:19188253-19188257
4 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) SNV Pathogenic 8778 rs104894205 11:19209833-19209833 11:19188286-19188286
5 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) SNV Pathogenic/Likely pathogenic 8778 rs104894205 11:19209833-19209833 11:19188286-19188286
6 CSRP3 NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) SNV Likely pathogenic 163007 rs142019584 11:19204266-19204266 11:19182719-19182719
7 CSRP3 NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) SNV Likely pathogenic 219444 rs761507504 11:19206558-19206558 11:19185011-19185011
8 CSRP3 NM_003476.5(CSRP3):c.128del (p.Ala43fs) Deletion Likely pathogenic 847161 11:19209836-19209836 11:19188289-19188289
9 CSRP3 NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) SNV Uncertain significance 851709 11:19207879-19207879 11:19186332-19186332
10 CSRP3 NM_003476.5(CSRP3):c.174C>T (p.Cys58=) SNV Uncertain significance 381101 rs1057520959 11:19209790-19209790 11:19188243-19188243
11 CSRP3 NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs) Microsatellite Uncertain significance 855956 11:19206549-19206550 11:19185002-19185003
12 CSRP3 NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) SNV Uncertain significance 858415 11:19207891-19207891 11:19186344-19186344
13 CSRP3 NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) SNV Uncertain significance 859311 11:19213979-19213979 11:19192432-19192432
14 CSRP3 NM_003476.5(CSRP3):c.228C>T (p.Gly76=) SNV Uncertain significance 861575 11:19209736-19209736 11:19188189-19188189
15 CSRP3 NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) SNV Uncertain significance 863545 11:19207893-19207893 11:19186346-19186346
16 CSRP3 NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) SNV Uncertain significance 426380 rs376198883 11:19206571-19206571 11:19185024-19185024
17 CSRP3 NC_000011.10:g.(?_19184942)_(19188314_?)del Deletion Uncertain significance 831881 11:19206489-19209861
18 CSRP3 NM_003476.5(CSRP3):c.415-1G>A SNV Uncertain significance 834445 11:19206593-19206593 11:19185046-19185046
19 CSRP3 NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) SNV Uncertain significance 835944 11:19209837-19209837 11:19188290-19188290
20 CSRP3 NM_003476.5(CSRP3):c.112+1G>A SNV Uncertain significance 222534 rs746990436 11:19213883-19213883 11:19192336-19192336
21 CSRP3 NM_003476.5(CSRP3):c.514T>C (p.Tyr172His) SNV Uncertain significance 836572 11:19204288-19204288 11:19182741-19182741
22 CSRP3 NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) SNV Uncertain significance 836666 11:19207808-19207808 11:19186261-19186261
23 CSRP3 NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) SNV Uncertain significance 228543 rs876657767 11:19207823-19207823 11:19186276-19186276
24 CSRP3 NM_003476.5(CSRP3):c.518C>T (p.Ala173Val) SNV Uncertain significance 842508 11:19204284-19204284 11:19182737-19182737
25 CSRP3 NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe) SNV Uncertain significance 846160 11:19206562-19206562 11:19185015-19185015
26 CSRP3 NC_000011.10:g.19210543G>A SNV Uncertain significance 877187 11:19232090-19232090 11:19210543-19210543
27 CSRP3 NM_003476.5(CSRP3):c.*559G>A SNV Uncertain significance 878158 11:19203658-19203658 11:19182111-19182111
28 CSRP3 NM_003476.5(CSRP3):c.*415A>G SNV Uncertain significance 878159 11:19203802-19203802 11:19182255-19182255
29 CSRP3 NM_003476.5(CSRP3):c.*292A>T SNV Uncertain significance 878160 11:19203925-19203925 11:19182378-19182378
30 CSRP3 NM_003476.5(CSRP3):c.299G>A (p.Arg100His) SNV Uncertain significance 44694 rs138218523 11:19207878-19207878 11:19186331-19186331
31 CSRP3 NM_003476.5(CSRP3):c.282-15G>C SNV Uncertain significance 879980 11:19207910-19207910 11:19186363-19186363
32 CSRP3 NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) SNV Uncertain significance 163012 rs367827746 11:19209699-19209699 11:19188152-19188152
33 CSRP3 NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu) SNV Uncertain significance 879981 11:19209743-19209743 11:19188196-19188196
34 CSRP3 NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp) SNV Uncertain significance 879982 11:19209750-19209750 11:19188203-19188203
35 CSRP3 NM_003476.5(CSRP3):c.162G>A (p.Ser54=) SNV Uncertain significance 137035 rs112848043 11:19209802-19209802 11:19188255-19188255
36 CSRP3 NM_003476.5(CSRP3):c.-28-17G>T SNV Uncertain significance 930263 11:19214040-19214040 11:19192493-19192493
37 CSRP3 NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) SNV Uncertain significance 934985 11:19209815-19209815 11:19188268-19188268
38 CSRP3 NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) SNV Uncertain significance 944590 11:19209796-19209796 11:19188249-19188249
39 CSRP3 NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys) SNV Uncertain significance 950593 11:19207768-19207768 11:19186221-19186221
40 CSRP3 NM_003476.5(CSRP3):c.93C>G (p.His31Gln) SNV Uncertain significance 217825 rs863225265 11:19213903-19213903 11:19192356-19192356
41 CSRP3 NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) SNV Uncertain significance 958665 11:19209699-19209699 11:19188152-19188152
42 CSRP3 NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) SNV Uncertain significance 960236 11:19209815-19209815 11:19188268-19188268
43 CSRP3 NM_003476.5(CSRP3):c.285C>A (p.Ser95=) SNV Uncertain significance 962276 11:19207892-19207892 11:19186345-19186345
44 CSRP3 NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile) SNV Uncertain significance 963688 11:19207866-19207866 11:19186319-19186319
45 CSRP3 NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg) SNV Uncertain significance 963816 11:19206548-19206548 11:19185001-19185001
46 CSRP3 NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly) SNV Uncertain significance 968411 11:19209848-19209848 11:19188301-19188301
47 CSRP3 NM_003476.5(CSRP3):c.562_564CAA[1] (p.Gln189del) Microsatellite Uncertain significance 451189 rs1173035411 11:19204235-19204237 11:19182688-19182690
48 CSRP3 NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) SNV Uncertain significance 163007 rs142019584 11:19204266-19204266 11:19182719-19182719
49 CSRP3 NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) SNV Uncertain significance 404174 rs45531937 11:19213974-19213974 11:19192427-19192427
50 CSRP3 NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) SNV Uncertain significance 8776 rs45550635 11:19213986-19213986 11:19192439-19192439

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
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 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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