Cardiomyopathy, Familial Hypertrophic, 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH12 MCID: CRD081 MIFTS: 21	Cardiomyopathy, Familial Hypertrophic, 12 (CMH12) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Name: Cardiomyopathy, Familial Hypertrophic, 12 ⁵⁸ ¹³ ⁷⁴

Cmh12 ⁵⁸ ¹² ⁷⁶

Familial Hypertrophic Cardiomyopathy 12 ³⁰ ⁶

Cardiomyopathy, Hypertrophic, Familial, Type 12 ⁴¹

Cardiomyopathy, Familial Hypertrophic 12 ⁷⁶

Cardiomyopathy Familial Hypertrophic 12 ¹²

Cardiomyopathy, Hypertrophic, 12 ⁵⁸

Hypertrophic Cardiomyopathy 12 ¹²

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

cardiomyopathy, familial hypertrophic, 12:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110318

OMIM ⁵⁸ 612124

MeSH ⁴⁵ D024741

MedGen ⁴³ C2677491 CN029460

SNOMED-CT via HPO ⁷⁰ 25569003 263681008 282825002 more

UMLS ⁷⁴ C2677491

Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

UniProtKB/Swiss-Prot : ⁷⁶ 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, is also known as cmh12. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (Cysteine And Glycine Rich Protein 3). Affiliated tissues include heart, 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.

Description from OMIM: 612124

Sources

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

Sources

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

³³

#	Description	HPO Source Accession
1	sudden cardiac death ³³	HP:0001645
2	cardiomyopathy ³³	HP:0001638
3	ventricular tachycardia ³³	HP:0004756
4	paroxysmal atrial fibrillation ³³	HP:0004757

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Clinical features from OMIM:

612124

Sources

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

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

Sources

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 12:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 12 ³⁰	CSRP3

Sources

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

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

⁴²

Heart

Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

#	Title	Authors	Year
1	Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )	Pinto YM...Elliott PM	2011
2	Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. ( 18505755 )	Geier C...Ozcelik C	2008
3	Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. ( 12642359 )	Geier C...Osterziel KJ	2003

Sources

Genes for Cardiomyopathy, Familial Hypertrophic, 12

Genes related to Cardiomyopathy, Familial Hypertrophic, 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	1327.6	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	18505755 21267010 20301486 (more) 12642359

Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 12

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

⁷⁶

#	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, Familial Hypertrophic, 12:

⁶ (show top 50) (show all 125)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CSRP3	NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45550635	GRCh37	Chromosome 11, 19213986: 19213986
2	CSRP3	NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45550635	GRCh38	Chromosome 11, 19192439: 19192439
3	CSRP3	NM_003476.4(CSRP3): c.172T> G (p.Cys58Gly)	single nucleotide variant	Pathogenic	rs104894204	GRCh37	Chromosome 11, 19209792: 19209792
4	CSRP3	NM_003476.4(CSRP3): c.172T> G (p.Cys58Gly)	single nucleotide variant	Pathogenic	rs104894204	GRCh38	Chromosome 11, 19188245: 19188245
5	CSRP3	NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs104894205	GRCh37	Chromosome 11, 19209833: 19209833
6	CSRP3	NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs104894205	GRCh38	Chromosome 11, 19188286: 19188286
7	CSRP3	NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg)	single nucleotide variant	Uncertain significance	rs137852764	GRCh37	Chromosome 11, 19209758: 19209758
8	CSRP3	NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg)	single nucleotide variant	Uncertain significance	rs137852764	GRCh38	Chromosome 11, 19188211: 19188211
9	CSRP3	NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137852765	GRCh37	Chromosome 11, 19209828: 19209828
10	CSRP3	NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137852765	GRCh38	Chromosome 11, 19188281: 19188281
11	CSRP3	NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs193922667	GRCh37	Chromosome 11, 19207812: 19207812
12	CSRP3	NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs193922667	GRCh38	Chromosome 11, 19186265: 19186265
13	CSRP3	NM_003476.4(CSRP3): c.148G> A (p.Ala50Thr)	single nucleotide variant	Uncertain significance	rs145300736	GRCh37	Chromosome 11, 19209816: 19209816
14	CSRP3	NM_003476.4(CSRP3): c.148G> A (p.Ala50Thr)	single nucleotide variant	Uncertain significance	rs145300736	GRCh38	Chromosome 11, 19188269: 19188269
15	CSRP3	NM_003476.4(CSRP3): c.150G> A (p.Ala50=)	single nucleotide variant	Benign/Likely benign	rs7124801	GRCh37	Chromosome 11, 19209814: 19209814
16	CSRP3	NM_003476.4(CSRP3): c.150G> A (p.Ala50=)	single nucleotide variant	Benign/Likely benign	rs7124801	GRCh38	Chromosome 11, 19188267: 19188267
17	CSRP3	NM_003476.4(CSRP3): c.213C> T (p.Ile71=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45476991	GRCh37	Chromosome 11, 19209751: 19209751
18	CSRP3	NM_003476.4(CSRP3): c.213C> T (p.Ile71=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45476991	GRCh38	Chromosome 11, 19188204: 19188204
19	CSRP3	NM_003476.4(CSRP3): c.299G> A (p.Arg100His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138218523	GRCh37	Chromosome 11, 19207878: 19207878
20	CSRP3	NM_003476.4(CSRP3): c.299G> A (p.Arg100His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138218523	GRCh38	Chromosome 11, 19186331: 19186331
21	CSRP3	NM_003476.4(CSRP3): c.299G> A (p.Arg100His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138218523	NCBI36	Chromosome 11, 19164454: 19164454
22	CSRP3	NM_003476.4(CSRP3): c.312C> G (p.Thr104=)	single nucleotide variant	Benign/Likely benign	rs45582433	GRCh37	Chromosome 11, 19207865: 19207865
23	CSRP3	NM_003476.4(CSRP3): c.312C> G (p.Thr104=)	single nucleotide variant	Benign/Likely benign	rs45582433	GRCh38	Chromosome 11, 19186318: 19186318
24	CSRP3	NM_003476.4(CSRP3): c.379G> A (p.Val127Ile)	single nucleotide variant	Uncertain significance	rs149201422	GRCh37	Chromosome 11, 19207798: 19207798
25	CSRP3	NM_003476.4(CSRP3): c.379G> A (p.Val127Ile)	single nucleotide variant	Uncertain significance	rs149201422	GRCh38	Chromosome 11, 19186251: 19186251
26	CSRP3	NM_003476.4(CSRP3): c.535A> G (p.Thr179Ala)	single nucleotide variant	Uncertain significance	rs397516859	GRCh37	Chromosome 11, 19204267: 19204267
27	CSRP3	NM_003476.4(CSRP3): c.535A> G (p.Thr179Ala)	single nucleotide variant	Uncertain significance	rs397516859	GRCh38	Chromosome 11, 19182720: 19182720
28	CSRP3	NM_003476.4(CSRP3): c.162G> A (p.Ser54=)	single nucleotide variant	Benign/Likely benign	rs112848043	GRCh38	Chromosome 11, 19188255: 19188255
29	CSRP3	NM_003476.4(CSRP3): c.162G> A (p.Ser54=)	single nucleotide variant	Benign/Likely benign	rs112848043	GRCh37	Chromosome 11, 19209802: 19209802
30	CSRP3	NM_003476.4(CSRP3): c.437G> A (p.Arg146His)	single nucleotide variant	Uncertain significance	rs377066670	GRCh37	Chromosome 11, 19206570: 19206570
31	CSRP3	NM_003476.4(CSRP3): c.437G> A (p.Arg146His)	single nucleotide variant	Uncertain significance	rs377066670	GRCh38	Chromosome 11, 19185023: 19185023
32	CSRP3	NM_003476.4(CSRP3): c.272A> T (p.Gln91Leu)	single nucleotide variant	Uncertain significance	rs727504436	GRCh38	Chromosome 11, 19188145: 19188145
33	CSRP3	NM_003476.4(CSRP3): c.272A> T (p.Gln91Leu)	single nucleotide variant	Uncertain significance	rs727504436	GRCh37	Chromosome 11, 19209692: 19209692
34	CSRP3	NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg)	single nucleotide variant	Uncertain significance	rs185980145	GRCh37	Chromosome 11, 19213980: 19213980
35	CSRP3	NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg)	single nucleotide variant	Uncertain significance	rs185980145	GRCh38	Chromosome 11, 19192433: 19192433
36	CSRP3	NM_003476.4(CSRP3): c.536C> T (p.Thr179Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142019584	GRCh37	Chromosome 11, 19204266: 19204266
37	CSRP3	NM_003476.4(CSRP3): c.536C> T (p.Thr179Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142019584	GRCh38	Chromosome 11, 19182719: 19182719
38	CSRP3	NM_003476.4(CSRP3): c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly)	indel	Pathogenic	rs281865416	GRCh38	Chromosome 11, 19188253: 19188257
39	CSRP3	NM_003476.4(CSRP3): c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly)	indel	Pathogenic	rs281865416	GRCh37	Chromosome 11, 19209800: 19209804
40	CSRP3	NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg)	single nucleotide variant	Uncertain significance	rs111868331	GRCh38	Chromosome 11, 19182711: 19182711
41	CSRP3	NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg)	single nucleotide variant	Uncertain significance	rs111868331	GRCh37	Chromosome 11, 19204258: 19204258
42	CSRP3	NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn)	single nucleotide variant	Uncertain significance	rs372717179	GRCh38	Chromosome 11, 19192363: 19192363
43	CSRP3	NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn)	single nucleotide variant	Uncertain significance	rs372717179	GRCh37	Chromosome 11, 19213910: 19213910
44	CSRP3	NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter)	single nucleotide variant	Uncertain significance	rs863224716	GRCh38	Chromosome 11, 19186293: 19186293
45	CSRP3	NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter)	single nucleotide variant	Uncertain significance	rs863224716	GRCh37	Chromosome 11, 19207840: 19207840
46	CSRP3	NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761507504	GRCh38	Chromosome 11, 19185011: 19185011
47	CSRP3	NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761507504	GRCh37	Chromosome 11, 19206558: 19206558
48	CSRP3	NM_003476.4(CSRP3): c.15C> A (p.Gly5=)	single nucleotide variant	Likely benign	rs747959696	GRCh37	Chromosome 11, 19213981: 19213981
49	CSRP3	NM_003476.4(CSRP3): c.15C> A (p.Gly5=)	single nucleotide variant	Likely benign	rs747959696	GRCh38	Chromosome 11, 19192434: 19192434
50	CSRP3	NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu)	single nucleotide variant	Uncertain significance	rs878854613	GRCh37	Chromosome 11, 19206555: 19206555

Sources

Expression for Cardiomyopathy, Familial Hypertrophic, 12

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

Sources

Pathways for Cardiomyopathy, Familial Hypertrophic, 12

Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 12

Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cardiomyopathy, Familial Hypertrophic, 12 (CMH12)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 12

Diseases in the Hypertrophic Cardiomyopathy family:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 12:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

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

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

Genes for Cardiomyopathy, Familial Hypertrophic, 12

Genes related to Cardiomyopathy, Familial Hypertrophic, 12 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 12

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

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

Expression for Cardiomyopathy, Familial Hypertrophic, 12

Pathways for Cardiomyopathy, Familial Hypertrophic, 12

GO Terms for Cardiomyopathy, Familial Hypertrophic, 12

Sources for Cardiomyopathy, Familial Hypertrophic, 12