CMH9
MCID: CRD079
MIFTS: 21

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

Articles related to Cardiomyopathy, Familial Hypertrophic, 9:

# Title Authors Year
1
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
2
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. ( 10462489 )
1999

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 363)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_001256850.1(TTN): c.2219G> T (p.Arg740Leu) single nucleotide variant Pathogenic rs28933405 GRCh37 Chromosome 2, 179650726: 179650726
2 TTN NM_001256850.1(TTN): c.2219G> T (p.Arg740Leu) single nucleotide variant Pathogenic rs28933405 GRCh38 Chromosome 2, 178785999: 178785999
3 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
4 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
5 TTN NM_001256850.1(TTN): c.44490G> T (p.Trp14830Cys) single nucleotide variant Uncertain significance rs202094100 GRCh37 Chromosome 2, 179478597: 179478597
6 TTN NM_001256850.1(TTN): c.44490G> T (p.Trp14830Cys) single nucleotide variant Uncertain significance rs202094100 GRCh38 Chromosome 2, 178613870: 178613870
7 TTN NM_001256850.1(TTN): c.50216T> C (p.Ile16739Thr) single nucleotide variant Uncertain significance rs72646819 GRCh37 Chromosome 2, 179466859: 179466859
8 TTN NM_001256850.1(TTN): c.50216T> C (p.Ile16739Thr) single nucleotide variant Uncertain significance rs72646819 GRCh38 Chromosome 2, 178602132: 178602132
9 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
10 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
11 TTN NM_003319.4(TTN): c.35986C> T (p.Pro11996Ser) single nucleotide variant Uncertain significance rs375401971 GRCh37 Chromosome 2, 179453271: 179453271
12 TTN NM_003319.4(TTN): c.35986C> T (p.Pro11996Ser) single nucleotide variant Uncertain significance rs375401971 GRCh38 Chromosome 2, 178588544: 178588544
13 TTN NM_001256850.1(TTN): c.61468A> G (p.Thr20490Ala) single nucleotide variant Uncertain significance rs140842479 GRCh37 Chromosome 2, 179446705: 179446705
14 TTN NM_001256850.1(TTN): c.61468A> G (p.Thr20490Ala) single nucleotide variant Uncertain significance rs140842479 GRCh38 Chromosome 2, 178581978: 178581978
15 TTN NM_001267550.2(TTN): c.70748C> A (p.Thr23583Lys) single nucleotide variant Uncertain significance rs397517687 GRCh37 Chromosome 2, 179440111: 179440111
16 TTN NM_001267550.2(TTN): c.70748C> A (p.Thr23583Lys) single nucleotide variant Uncertain significance rs397517687 GRCh38 Chromosome 2, 178575384: 178575384
17 TTN NM_133378.4(TTN): c.75914T> C (p.Val25305Ala) single nucleotide variant Uncertain significance rs200775919 GRCh37 Chromosome 2, 179427241: 179427241
18 TTN NM_133378.4(TTN): c.75914T> C (p.Val25305Ala) single nucleotide variant Uncertain significance rs200775919 GRCh38 Chromosome 2, 178562514: 178562514
19 TTN NM_133378.4(TTN): c.83130T> A (p.Ser27710Arg) single nucleotide variant Uncertain significance rs397517751 GRCh37 Chromosome 2, 179416793: 179416793
20 TTN NM_133378.4(TTN): c.83130T> A (p.Ser27710Arg) single nucleotide variant Uncertain significance rs397517751 GRCh38 Chromosome 2, 178552066: 178552066
21 TTN NM_133378.4(TTN): c.84857T> C (p.Ile28286Thr) single nucleotide variant Uncertain significance rs368427408 GRCh37 Chromosome 2, 179413792: 179413792
22 TTN NM_133378.4(TTN): c.84857T> C (p.Ile28286Thr) single nucleotide variant Uncertain significance rs368427408 GRCh38 Chromosome 2, 178549065: 178549065
23 TTN NM_001256850.1(TTN): c.90160G> A (p.Gly30054Arg) single nucleotide variant Uncertain significance rs376403373 GRCh37 Chromosome 2, 179410975: 179410975
24 TTN NM_001256850.1(TTN): c.90160G> A (p.Gly30054Arg) single nucleotide variant Uncertain significance rs376403373 GRCh38 Chromosome 2, 178546248: 178546248
25 TTN NM_001256850.1(TTN): c.91217C> T (p.Thr30406Met) single nucleotide variant Uncertain significance rs375640847 GRCh37 Chromosome 2, 179408731: 179408731
26 TTN NM_001256850.1(TTN): c.91217C> T (p.Thr30406Met) single nucleotide variant Uncertain significance rs375640847 GRCh38 Chromosome 2, 178544004: 178544004
27 TTN NM_001256850.1(TTN): c.91981+4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs373514079 GRCh37 Chromosome 2, 179407792: 179407792
28 TTN NM_001256850.1(TTN): c.91981+4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs373514079 GRCh38 Chromosome 2, 178543065: 178543065
29 TTN NM_133378.4(TTN): c.99133T> G (p.Ser33045Ala) single nucleotide variant Uncertain significance rs374405802 GRCh37 Chromosome 2, 179393641: 179393641
30 TTN NM_133378.4(TTN): c.99133T> G (p.Ser33045Ala) single nucleotide variant Uncertain significance rs374405802 GRCh38 Chromosome 2, 178528914: 178528914
31 TTN NM_133379.4(TTN): c.10361-5delT deletion Conflicting interpretations of pathogenicity rs58651353 GRCh37 Chromosome 2, 179616771: 179616771
32 TTN NM_133379.4(TTN): c.10361-5delT deletion Conflicting interpretations of pathogenicity rs58651353 GRCh38 Chromosome 2, 178752044: 178752044
33 TTN NM_133379.4(TTN): c.11075G> C (p.Ser3692Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147314430 GRCh37 Chromosome 2, 179616052: 179616052
34 TTN NM_133379.4(TTN): c.11075G> C (p.Ser3692Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147314430 GRCh38 Chromosome 2, 178751325: 178751325
35 TTN NM_001256850.1(TTN): c.34477G> T (p.Val11493Leu) single nucleotide variant Uncertain significance rs398124448 GRCh37 Chromosome 2, 179523777: 179523777
36 TTN NM_001256850.1(TTN): c.34477G> T (p.Val11493Leu) single nucleotide variant Uncertain significance rs398124448 GRCh38 Chromosome 2, 178659050: 178659050
37 TTN NM_133378.4(TTN): c.61120G> A (p.Glu20374Lys) single nucleotide variant Uncertain significance rs199506676 GRCh37 Chromosome 2, 179442329: 179442329
38 TTN NM_133378.4(TTN): c.61120G> A (p.Glu20374Lys) single nucleotide variant Uncertain significance rs199506676 GRCh38 Chromosome 2, 178577602: 178577602
39 TTN NM_001256850.1(TTN): c.9443G> A (p.Arg3148His) single nucleotide variant Uncertain significance rs368786036 GRCh37 Chromosome 2, 179632514: 179632514
40 TTN NM_001256850.1(TTN): c.9443G> A (p.Arg3148His) single nucleotide variant Uncertain significance rs368786036 GRCh38 Chromosome 2, 178767787: 178767787
41 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
42 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
43 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh38 Chromosome 2, 178532615: 178532615
44 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh37 Chromosome 2, 179397342: 179397342
45 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
46 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
47 TTN NM_001267550.2(TTN): c.84398A> G (p.Asn28133Ser) single nucleotide variant Uncertain significance rs727505053 GRCh38 Chromosome 2, 178561734: 178561734
48 TTN NM_001267550.2(TTN): c.84398A> G (p.Asn28133Ser) single nucleotide variant Uncertain significance rs727505053 GRCh37 Chromosome 2, 179426461: 179426461
49 TTN NM_001256850.1(TTN): c.55003C> T (p.His18335Tyr) single nucleotide variant Uncertain significance rs727503588 GRCh37 Chromosome 2, 179456705: 179456705
50 TTN NM_001256850.1(TTN): c.55003C> T (p.His18335Tyr) single nucleotide variant Uncertain significance rs727503588 GRCh38 Chromosome 2, 178591978: 178591978

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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