CMH9
MCID: CRD079
MIFTS: 20

Cardiomyopathy, Familial Hypertrophic, 9 (CMH9)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 9

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 9:

Name: Cardiomyopathy, Familial Hypertrophic, 9 58 12 13 74
Cmh9 58 12 76
Familial Hypertrophic Cardiomyopathy 9 30 6
Hypertrophic Cardiomyopathy 9 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 9 41
Cardiomyopathy, Familial Hypertrophic 9 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient


HPO:

33
cardiomyopathy, familial hypertrophic, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110315
OMIM 58 613765
MeSH 45 D024741
MedGen 43 C1861065
UMLS 74 C1861065

Summaries for Cardiomyopathy, Familial Hypertrophic, 9

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 9: 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, 9, is also known as cmh9. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 9 is TTN (Titin), and among its related pathways/superpathways is Response to elevated platelet cytosolic Ca2+. Affiliated tissues include heart, and related phenotypes are hypertrophic cardiomyopathy and dilated cardiomyopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

Description from OMIM: 613765

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 9

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 9:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639
2 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy

Clinical features from OMIM:

613765

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 9

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 9

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 9

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 9:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 9 30 TTN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 9

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 9:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 9

Variations for Cardiomyopathy, Familial Hypertrophic, 9

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 9:

76
# Symbol AA change Variation ID SNP ID
1 TTN p.Arg740Leu VAR_026687 rs28933405

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 9:

6 (show top 50) (show all 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_001256850.1(TTN): c.39358C> T (p.Pro13120Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs192766485 GRCh38 Chromosome 2, 178630241: 178630241
2 TTN NM_001256850.1(TTN): c.39358C> T (p.Pro13120Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs192766485 GRCh37 Chromosome 2, 179494968: 179494968
3 TTN NM_001267550.2(TTN): c.104092C> T (p.Arg34698Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727504184 GRCh37 Chromosome 2, 179397250: 179397250
4 TTN NM_001267550.2(TTN): c.104092C> T (p.Arg34698Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727504184 GRCh38 Chromosome 2, 178532523: 178532523
5 TTN NM_133378.4(TTN): c.21159G> T (p.Trp7053Cys) single nucleotide variant Uncertain significance rs727504205 GRCh38 Chromosome 2, 178718115: 178718115
6 TTN NM_133378.4(TTN): c.21159G> T (p.Trp7053Cys) single nucleotide variant Uncertain significance rs727504205 GRCh37 Chromosome 2, 179582842: 179582842
7 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh37 Chromosome 2, 179444429: 179444429
8 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh38 Chromosome 2, 178579702: 178579702
9 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh37 Chromosome 2, 179478788: 179478788
10 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh38 Chromosome 2, 178614061: 178614061
11 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh37 Chromosome 2, 179469909: 179469909
12 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh38 Chromosome 2, 178605182: 178605182
13 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh37 Chromosome 2, 179455771: 179455771
14 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh38 Chromosome 2, 178591044: 178591044
15 TTN NM_001256850.1(TTN): c.74239G> T (p.Gly24747Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh37 Chromosome 2, 179431697: 179431697
16 TTN NM_001256850.1(TTN): c.74239G> T (p.Gly24747Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh38 Chromosome 2, 178566970: 178566970
17 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh37 Chromosome 2, 179428314: 179428315
18 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh38 Chromosome 2, 178563587: 178563588
19 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh37 Chromosome 2, 179419591: 179419591
20 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh38 Chromosome 2, 178554864: 178554864
21 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh37 Chromosome 2, 179418853: 179418859
22 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh38 Chromosome 2, 178554126: 178554132
23 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh37 Chromosome 2, 179402215: 179402215
24 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh38 Chromosome 2, 178537488: 178537488
25 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh37 Chromosome 2, 179393311: 179393315
26 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh38 Chromosome 2, 178528584: 178528588
27 TTN NM_001267550.2(TTN): c.22145_22146delTT (p.Phe7382Terfs) deletion Pathogenic rs794727888 GRCh37 Chromosome 2, 179587480: 179587481
28 TTN NM_001267550.2(TTN): c.22145_22146delTT (p.Phe7382Terfs) deletion Pathogenic rs794727888 GRCh38 Chromosome 2, 178722753: 178722754
29 TTN NM_001256850.1(TTN): c.94037C> T (p.Ser31346Phe) single nucleotide variant Uncertain significance rs746380940 GRCh37 Chromosome 2, 179403702: 179403702
30 TTN NM_001256850.1(TTN): c.94037C> T (p.Ser31346Phe) single nucleotide variant Uncertain significance rs746380940 GRCh38 Chromosome 2, 178538975: 178538975
31 TTN NM_001256850.1(TTN): c.83797C> T (p.Arg27933Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200513274 GRCh37 Chromosome 2, 179419354: 179419354
32 TTN NM_001256850.1(TTN): c.83797C> T (p.Arg27933Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200513274 GRCh38 Chromosome 2, 178554627: 178554627
33 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh37 Chromosome 2, 179430009: 179430009
34 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh38 Chromosome 2, 178565282: 178565282
35 TTN NM_001256850.1(TTN): c.70215_70218delAGAA (p.Lys23405Asnfs) deletion Pathogenic/Likely pathogenic rs794729340 GRCh37 Chromosome 2, 179435718: 179435721
36 TTN NM_001256850.1(TTN): c.70215_70218delAGAA (p.Lys23405Asnfs) deletion Pathogenic/Likely pathogenic rs794729340 GRCh38 Chromosome 2, 178570991: 178570994
37 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh37 Chromosome 2, 179449688: 179449688
38 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh38 Chromosome 2, 178584961: 178584961
39 TTN NM_001256850.1(TTN): c.26562delT (p.Pro8855Glnfs) deletion Uncertain significance rs794729378 GRCh37 Chromosome 2, 179577136: 179577136
40 TTN NM_001256850.1(TTN): c.26562delT (p.Pro8855Glnfs) deletion Uncertain significance rs794729378 GRCh38 Chromosome 2, 178712409: 178712409
41 TTN NM_001256850.1(TTN): c.2219G> T (p.Arg740Leu) single nucleotide variant Pathogenic rs28933405 GRCh37 Chromosome 2, 179650726: 179650726
42 TTN NM_001256850.1(TTN): c.2219G> T (p.Arg740Leu) single nucleotide variant Pathogenic rs28933405 GRCh38 Chromosome 2, 178785999: 178785999
43 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
44 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
45 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
46 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
47 TTN NM_001256850.1(TTN): c.91981+4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs373514079 GRCh37 Chromosome 2, 179407792: 179407792
48 TTN NM_001256850.1(TTN): c.91981+4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs373514079 GRCh38 Chromosome 2, 178543065: 178543065
49 TTN NM_133379.4(TTN): c.10361-5delT deletion Conflicting interpretations of pathogenicity rs58651353 GRCh37 Chromosome 2, 179616771: 179616771
50 TTN NM_133379.4(TTN): c.10361-5delT deletion Conflicting interpretations of pathogenicity rs58651353 GRCh38 Chromosome 2, 178752044: 178752044

Expression for Cardiomyopathy, Familial Hypertrophic, 9

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 9.

Pathways for Cardiomyopathy, Familial Hypertrophic, 9

Pathways related to Cardiomyopathy, Familial Hypertrophic, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.7 CEACAM5 TTN

GO Terms for Cardiomyopathy, Familial Hypertrophic, 9

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 CEACAM5 TTN

Sources for Cardiomyopathy, Familial Hypertrophic, 9

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