CMH12
MCID: CRD081
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 12 (CMH12)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

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:



External Ids:

Disease Ontology 12 DOID:0110318
OMIM 58 612124
MeSH 45 D024741
UMLS 74 C2677491

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

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

33
# Description HPO Frequency 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

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 30 CSRP3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

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

42
Heart

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 )
2011
2
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. ( 18505755 )
2008
3
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. ( 12642359 )
2003

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

Expression for Cardiomyopathy, Familial Hypertrophic, 12

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Pathways for Cardiomyopathy, Familial Hypertrophic, 12

GO Terms for Cardiomyopathy, Familial Hypertrophic, 12

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