CMH12
MCID: CRD202
MIFTS: 28

Cardiomyopathy, Hypertrophic, 12 (CMH12) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 12

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 12:

Name: Cardiomyopathy, Hypertrophic, 12 54
Cardiomyopathy, Familial Hypertrophic, 12 13 69
Cardiomyopathy, Familial Hypertrophic 12 66 29
Cmh12 12 66
Cardiomyopathy Familial Hypertrophic 12 12
Hypertrophic Cardiomyopathy 12 12

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic, 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612124
Disease Ontology 12 DOID:0110318
MedGen 40 CN029460
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 12

UniProtKB/Swiss-Prot : 66 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, Hypertrophic, 12, also known as cardiomyopathy, familial hypertrophic, 12, is related to cardiomyopathy, familial hypertrophic, and has symptoms including sudden cardiac death, cardiomyopathy and ventricular tachycardia. An important gene associated with Cardiomyopathy, Hypertrophic, 12 is CSRP3 (Cysteine And Glycine Rich Protein 3). The drugs Spironolactone and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include heart.

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

Description from OMIM: 612124

Related Diseases for Cardiomyopathy, Hypertrophic, 12

Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Hypertrophic, 13
Cardiomyopathy, Hypertrophic, 8 Cardiomyopathy, Hypertrophic, 16
Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy, Hypertrophic 6
Cardiomyopathy, Hypertrophic, 15 Cardiomyopathy, Hypertrophic, 12
Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Hypertrophic, 10
Cardiomyopathy, Hypertrophic, 14 Cardiomyopathy, Hypertrophic, 11
Cardiomyopathy, Hypertrophic, 3 Cardiomyopathy, Hypertrophic, 25
Cardiomyopathy, Hypertrophic, 19 Cardiomyopathy, Hypertrophic, 7
Cardiomyopathy, Hypertrophic, 17 Hypertrophic Cardiomyopathy 21
Hypertrophic Cardiomyopathy 26 Calr3-Related Familial Hypertrophic Cardiomyopathy
Jph2-Related Familial Hypertrophic Cardiomyopathy Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Csrp3-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Myh6-Related Familial Hypertrophic Cardiomyopathy Myh7-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Tcap-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Tnni3-Related Familial Hypertrophic Cardiomyopathy
Tnnt2-Related Familial Hypertrophic Cardiomyopathy Tpm1-Related Familial Hypertrophic Cardiomyopathy
Ttn-Related Familial Hypertrophic Cardiomyopathy Vcl-Related Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Cardiomyopathy, Infantile Hypertrophic

Diseases related to Cardiomyopathy, Hypertrophic, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 12

Symptoms by clinical synopsis from OMIM:

612124

Clinical features from OMIM:

612124

Human phenotypes related to Cardiomyopathy, Hypertrophic, 12:

32
id Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 cardiomyopathy 32 HP:0001638
3 ventricular tachycardia 32 HP:0004756
4 paroxysmal atrial fibrillation 32 HP:0004757

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 12

Drugs for Cardiomyopathy, Hypertrophic, 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
3
Doxazosin Approved Phase 4 74191-85-8 3157
4
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
5
Chlorthalidone Approved Phase 4 77-36-1 2732
6 diuretics Phase 4
7 Diuretics, Potassium Sparing Phase 4
8 Hormone Antagonists Phase 4
9 Hormones Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Mineralocorticoid Receptor Antagonists Phase 4
12 Mineralocorticoids Phase 4
13 Natriuretic Agents Phase 4
14 Adrenergic Agents Phase 4
15 Adrenergic alpha-1 Receptor Antagonists Phase 4
16 Adrenergic alpha-Antagonists Phase 4
17 Adrenergic Antagonists Phase 4
18 Adrenergic beta-1 Receptor Antagonists Phase 4
19 Adrenergic beta-Antagonists Phase 4
20 Anti-Arrhythmia Agents Phase 4,Phase 2
21 Antihypertensive Agents Phase 4,Phase 2
22 Autonomic Agents Phase 4
23 Neurotransmitter Agents Phase 4
24 Peripheral Nervous System Agents Phase 4
25 Sympatholytics Phase 4
26 Vasodilator Agents Phase 4
27 Sodium Chloride Symporter Inhibitors Phase 4
28 Anticholesteremic Agents Phase 3
29 Antimetabolites Phase 3
30 Atorvastatin Calcium Phase 3 134523-03-8
31 Calcium, Dietary Phase 3
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
33 Hypolipidemic Agents Phase 3
34 Lipid Regulating Agents Phase 3
35
Losartan Approved Phase 2 114798-26-4 3961
36
Angiotensin II Phase 2 68521-88-0, 11128-99-7 65143 172198
37 Angiotensin II Type 1 Receptor Blockers Phase 2
38 Angiotensin Receptor Antagonists Phase 2
39 Angiotensinogen Phase 2
40
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
41 Antidotes Phase 1
42 Anti-Infective Agents Phase 1
43 Antioxidants Phase 1
44 Antiviral Agents Phase 1
45 Expectorants Phase 1
46 N-monoacetylcystine Phase 1
47 Protective Agents Phase 1
48 Respiratory System Agents Phase 1
49
Amlodipine Approved 88150-42-9 2162
50
Dobutamine Approved 34368-04-2 36811

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4
2 Effects of Spironolactone in Dialysis Unknown status NCT01128101 Phase 4
3 Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4
4 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Recruiting NCT02502981 Phase 4
5 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3
6 Lung Water by Ultrasound Guided Treatment in Hemodialysis Patients (The Lust Study). Recruiting NCT02310061 Phase 3
7 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3
8 Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy Completed NCT01447654 Phase 2
9 A Phase 2 Open-label Pilot Study Evaluating MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Recruiting NCT02842242 Phase 2
10 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
11 Hypertrophic Regression With N-Acetylcysteine in HCM Completed NCT01537926 Phase 1
12 Family Studies of Inherited Heart Disease Completed NCT00001225
13 Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy Completed NCT01481298
14 Reduced Contractile Reserve: a Therapeutic Target in Heart Failure With Preserved Ejection Fraction(HFpEF) Completed NCT01354613
15 Cardiovascular Outcome After Surgery or Somatostatin Analogues Completed NCT00615004
16 Triple Chamber Pacing in Hypertrophic Obstructive Cardiomyopathy (HOCM) Patients - TRICHAMPION STUDY Recruiting NCT01614717
17 Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM) Recruiting NCT02492399
18 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 12

Genetic Tests for Cardiomyopathy, Hypertrophic, 12

Genetic tests related to Cardiomyopathy, Hypertrophic, 12:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 12 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 12

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

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 12

Variations for Cardiomyopathy, Hypertrophic, 12

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

66
id Symbol AA change Variation ID SNP ID
1 CSRP3 p.Leu44Pro VAR_045932 rs104894205
2 CSRP3 p.Cys58Gly VAR_045934 rs104894204

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 12:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CSRP3 NM_003476.4(CSRP3): c.172T> G (p.Cys58Gly) single nucleotide variant Pathogenic rs104894204 GRCh37 Chromosome 11, 19209792: 19209792
2 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852765 GRCh37 Chromosome 11, 19209828: 19209828
3 CSRP3 NM_003476.4(CSRP3): c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly) indel Pathogenic rs267606753 GRCh38 Chromosome 11, 19188253: 19188257

Expression for Cardiomyopathy, Hypertrophic, 12

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

Pathways for Cardiomyopathy, Hypertrophic, 12

GO Terms for Cardiomyopathy, Hypertrophic, 12

Sources for Cardiomyopathy, Hypertrophic, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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