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

MCID: CRD081 MIFTS: 19	Cardiomyopathy, Familial Hypertrophic, 12 Categories: Genetic diseases, Cardiovascular diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Name: Cardiomyopathy, Familial Hypertrophic, 12 ⁵⁷ ¹³ ⁷³

Cmh12 ⁵⁷ ¹² ⁷⁵

Familial Hypertrophic Cardiomyopathy 12 ²⁹ ⁶

Cardiomyopathy, Hypertrophic, Familial, Type 12 ⁴⁰

Cardiomyopathy, Familial Hypertrophic 12 ⁷⁵

Cardiomyopathy Familial Hypertrophic 12 ¹²

Cardiomyopathy, Hypertrophic, 12 ⁵⁷

Hypertrophic Cardiomyopathy 12 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

cardiomyopathy, familial hypertrophic, 12:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 612124

Disease Ontology ¹² DOID:0110318

MedGen ⁴² C2677491 CN029460

MeSH ⁴⁴ D024741

SNOMED-CT via HPO ⁶⁹ 263681008 57809008 85898001 more

UMLS ⁷³ C2677491

Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

UniProtKB/Swiss-Prot : ⁷⁵ 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 cardiomyopathy and sudden cardiac death

Disease Ontology : ¹² A 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, 19
Cardiomyopathy, Familial Hypertrophic, 20	Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Sources

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

612124

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

³²

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

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 ²⁹	CSRP3

Sources

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

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

⁴¹

Heart

Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 12

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	1327.77	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	12642359 18505755 21267010 (more) 20301486

Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 12

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

⁷⁵

#	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 80)

#	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.172T> G (p.Cys58Gly)	single nucleotide variant	Pathogenic	rs104894204	GRCh38	Chromosome 11, 19188245: 19188245
3	CSRP3	NM_003476.4(CSRP3): c.437G> A (p.Arg146His)	single nucleotide variant	Uncertain significance	rs377066670	GRCh37	Chromosome 11, 19206570: 19206570
4	CSRP3	NM_003476.4(CSRP3): c.437G> A (p.Arg146His)	single nucleotide variant	Uncertain significance	rs377066670	GRCh38	Chromosome 11, 19185023: 19185023
5	CSRP3	NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg)	single nucleotide variant	Uncertain significance	rs185980145	GRCh37	Chromosome 11, 19213980: 19213980
6	CSRP3	NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg)	single nucleotide variant	Uncertain significance	rs185980145	GRCh38	Chromosome 11, 19192433: 19192433
7	CSRP3	NM_003476.4(CSRP3): c.536C> T (p.Thr179Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142019584	GRCh37	Chromosome 11, 19204266: 19204266
8	CSRP3	NM_003476.4(CSRP3): c.536C> T (p.Thr179Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142019584	GRCh38	Chromosome 11, 19182719: 19182719
9	CSRP3	NM_003476.4(CSRP3): c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly)	indel	Pathogenic	rs267606753	GRCh38	Chromosome 11, 19188253: 19188257
10	CSRP3	NM_003476.4(CSRP3): c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly)	indel	Pathogenic	rs267606753	GRCh37	Chromosome 11, 19209800: 19209804
11	CSRP3	NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg)	single nucleotide variant	Uncertain significance	rs111868331	GRCh38	Chromosome 11, 19182711: 19182711
12	CSRP3	NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg)	single nucleotide variant	Uncertain significance	rs111868331	GRCh37	Chromosome 11, 19204258: 19204258
13	CSRP3	NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn)	single nucleotide variant	Uncertain significance	rs372717179	GRCh38	Chromosome 11, 19192363: 19192363
14	CSRP3	NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn)	single nucleotide variant	Uncertain significance	rs372717179	GRCh37	Chromosome 11, 19213910: 19213910
15	CSRP3	NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter)	single nucleotide variant	Uncertain significance	rs863224716	GRCh38	Chromosome 11, 19186293: 19186293
16	CSRP3	NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter)	single nucleotide variant	Uncertain significance	rs863224716	GRCh37	Chromosome 11, 19207840: 19207840
17	CSRP3	NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761507504	GRCh38	Chromosome 11, 19185011: 19185011
18	CSRP3	NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761507504	GRCh37	Chromosome 11, 19206558: 19206558
19	CSRP3	NM_003476.4(CSRP3): c.15C> A (p.Gly5=)	single nucleotide variant	Likely benign	rs747959696	GRCh37	Chromosome 11, 19213981: 19213981
20	CSRP3	NM_003476.4(CSRP3): c.15C> A (p.Gly5=)	single nucleotide variant	Likely benign	rs747959696	GRCh38	Chromosome 11, 19192434: 19192434
21	CSRP3	NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu)	single nucleotide variant	Uncertain significance	rs878854613	GRCh37	Chromosome 11, 19206555: 19206555
22	CSRP3	NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu)	single nucleotide variant	Uncertain significance	rs878854613	GRCh38	Chromosome 11, 19185008: 19185008
23	CSRP3	NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys)	single nucleotide variant	Uncertain significance	rs763096875	GRCh38	Chromosome 11, 19186278: 19186278
24	CSRP3	NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys)	single nucleotide variant	Uncertain significance	rs763096875	GRCh37	Chromosome 11, 19207825: 19207825
25	CSRP3	NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro)	single nucleotide variant	Uncertain significance	rs760832923	GRCh38	Chromosome 11, 19188148: 19188148
26	CSRP3	NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro)	single nucleotide variant	Uncertain significance	rs760832923	GRCh37	Chromosome 11, 19209695: 19209695
27	CSRP3	NM_003476.4(CSRP3): c.256G> A (p.Glu86Lys)	single nucleotide variant	Uncertain significance	rs780917755	GRCh38	Chromosome 11, 19188161: 19188161
28	CSRP3	NM_003476.4(CSRP3): c.256G> A (p.Glu86Lys)	single nucleotide variant	Uncertain significance	rs780917755	GRCh37	Chromosome 11, 19209708: 19209708
29	CSRP3	NM_003476.4(CSRP3): c.537G> A (p.Thr179=)	single nucleotide variant	Uncertain significance	rs886048096	GRCh37	Chromosome 11, 19204265: 19204265
30	CSRP3	NM_003476.4(CSRP3): c.537G> A (p.Thr179=)	single nucleotide variant	Uncertain significance	rs886048096	GRCh38	Chromosome 11, 19182718: 19182718
31	CSRP3	NM_003476.4(CSRP3): c.252G> A (p.Thr84=)	single nucleotide variant	Likely benign	rs755614464	GRCh37	Chromosome 11, 19209712: 19209712
32	CSRP3	NM_003476.4(CSRP3): c.252G> A (p.Thr84=)	single nucleotide variant	Likely benign	rs755614464	GRCh38	Chromosome 11, 19188165: 19188165
33	CSRP3	NM_003476.4(CSRP3): c.294G> A (p.Pro98=)	single nucleotide variant	Likely benign	rs142832902	GRCh37	Chromosome 11, 19207883: 19207883
34	CSRP3	NM_003476.4(CSRP3): c.294G> A (p.Pro98=)	single nucleotide variant	Likely benign	rs142832902	GRCh38	Chromosome 11, 19186336: 19186336
35	CSRP3	NM_003476.4(CSRP3): c.201C> A (p.Gly67=)	single nucleotide variant	Likely benign	rs557643642	GRCh37	Chromosome 11, 19209763: 19209763
36	CSRP3	NM_003476.4(CSRP3): c.201C> A (p.Gly67=)	single nucleotide variant	Likely benign	rs557643642	GRCh38	Chromosome 11, 19188216: 19188216
37	CSRP3	NM_003476.4(CSRP3): c.50T> A (p.Val17Asp)	single nucleotide variant	Uncertain significance	rs1060500131	GRCh37	Chromosome 11, 19213946: 19213946
38	CSRP3	NM_003476.4(CSRP3): c.50T> A (p.Val17Asp)	single nucleotide variant	Uncertain significance	rs1060500131	GRCh38	Chromosome 11, 19192399: 19192399
39	CSRP3	NM_003476.4(CSRP3): c.48C> T (p.Thr16=)	single nucleotide variant	Likely benign	rs753120437	GRCh37	Chromosome 11, 19213948: 19213948
40	CSRP3	NM_003476.4(CSRP3): c.48C> T (p.Thr16=)	single nucleotide variant	Likely benign	rs753120437	GRCh38	Chromosome 11, 19192401: 19192401
41	CSRP3	NM_003476.4(CSRP3): c.264C> T (p.Leu88=)	single nucleotide variant	Likely benign	rs758256351	GRCh38	Chromosome 11, 19188153: 19188153
42	CSRP3	NM_003476.4(CSRP3): c.264C> T (p.Leu88=)	single nucleotide variant	Likely benign	rs758256351	GRCh37	Chromosome 11, 19209700: 19209700
43	CSRP3	NM_003476.4(CSRP3): c.22G> A (p.Ala8Thr)	single nucleotide variant	Uncertain significance	rs45531937	GRCh38	Chromosome 11, 19192427: 19192427
44	CSRP3	NM_003476.4(CSRP3): c.22G> A (p.Ala8Thr)	single nucleotide variant	Uncertain significance	rs45531937	GRCh37	Chromosome 11, 19213974: 19213974
45	CSRP3	NM_003476.4(CSRP3): c.175A> G (p.Lys59Glu)	single nucleotide variant	Uncertain significance	rs769003538	GRCh38	Chromosome 11, 19188242: 19188242
46	CSRP3	NM_003476.4(CSRP3): c.175A> G (p.Lys59Glu)	single nucleotide variant	Uncertain significance	rs769003538	GRCh37	Chromosome 11, 19209789: 19209789
47	CSRP3	NM_003476.4(CSRP3): c.524dup (p.Asn175Lysfs)	duplication	Uncertain significance		GRCh38	Chromosome 11, 19182731: 19182731
48	CSRP3	NM_003476.4(CSRP3): c.524dup (p.Asn175Lysfs)	duplication	Uncertain significance		GRCh37	Chromosome 11, 19204278: 19204278
49	CSRP3	NM_003476.4(CSRP3): c.461T> G (p.Leu154Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 19184999: 19184999
50	CSRP3	NM_003476.4(CSRP3): c.461T> G (p.Leu154Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 19206546: 19206546

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia