MCID: CRD079
MIFTS: 29

Cardiomyopathy, Familial Hypertrophic, 9

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 9

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 9:

Name: Cardiomyopathy, Familial Hypertrophic, 9 57 12 13 73
Cmh9 57 12 75
Familial Hypertrophic Cardiomyopathy 9 29 6
Hypertrophic Cardiomyopathy 9 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 9 40
Cardiomyopathy, Familial Hypertrophic 9 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient


HPO:

32
cardiomyopathy, familial hypertrophic, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613765
Disease Ontology 12 DOID:0110315
MedGen 42 C1861065
MeSH 44 D024741
UMLS 73 C1861065

Summaries for Cardiomyopathy, Familial Hypertrophic, 9

UniProtKB/Swiss-Prot : 75 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, also known as cmh9, is related to superficial siderosis of the central nervous system and superficial siderosis. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 9 is TTN (Titin), and among its related pathways/superpathways are Mineral absorption and Ferroptosis. Affiliated tissues include heart, and related phenotypes are hypertrophic cardiomyopathy and dilated cardiomyopathy

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

Description from OMIM: 613765

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 9

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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 superficial siderosis of the central nervous system 10.0 FTH1 TF
2 superficial siderosis 10.0 FTH1 TF
3 orbital cyst 9.9 CEACAM5 TF
4 siderosis 9.8 FTH1 TF
5 testicular yolk sac tumor 9.7 CEACAM5 TF
6 mucinous adenofibroma 9.7 CEACAM5 ESR1
7 gastric signet ring cell adenocarcinoma 9.7 CEACAM5 ESR1
8 adenoid basal cell carcinoma 9.7 CEACAM5 ESR1
9 eccrine adenocarcinoma 9.7 CEACAM5 ESR1
10 spondylolisthesis 9.6 ESR1 FTH1
11 cervical clear cell adenocarcinoma 9.6 CEACAM5 ESR1
12 pancreatic mucinous cystadenoma 9.6 CEACAM5 ESR1
13 ovary epithelial cancer 9.5 CEACAM5 ESR1
14 female reproductive organ cancer 9.4 CEACAM5 ESR1
15 endocrine gland cancer 9.3 CEACAM5 ESR1
16 cell type cancer 9.2 CEACAM5 ESR1
17 adamantinoma of long bones 9.0 CEACAM5 ESR1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 9:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 9

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 9

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypertrophic cardiomyopathy


Clinical features from OMIM:

613765

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 9:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 dilated cardiomyopathy 32 HP:0001644

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.4 ESR1
2 Decreased viability GR00221-A-2 9.4 ESR1 TAOK3 TTN
3 Decreased viability GR00221-A-3 9.4 TAOK3
4 Decreased viability GR00221-A-4 9.4 ESR1 TTN
5 Decreased viability GR00342-S-1 9.4 TTN
6 Decreased viability GR00342-S-3 9.4 TTN
7 Decreased viability GR00402-S-2 9.4 ESR1 TAOK3 TTN

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 29 TTN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 9

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 9

Variations for Cardiomyopathy, Familial Hypertrophic, 9

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

75
# 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 95)
# 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_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
4 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
5 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
6 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
7 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
8 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
9 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
10 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
11 TTN NM_001256850.1(TTN): c.39358C> T (p.Pro13120Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs192766485 GRCh37 Chromosome 2, 179494968: 179494968
12 TTN NM_001256850.1(TTN): c.39358C> T (p.Pro13120Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs192766485 GRCh38 Chromosome 2, 178630241: 178630241
13 TTN NM_001267550.2(TTN): c.104092C> T (p.Arg34698Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727504184 GRCh37 Chromosome 2, 179397250: 179397250
14 TTN NM_001267550.2(TTN): c.104092C> T (p.Arg34698Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727504184 GRCh38 Chromosome 2, 178532523: 178532523
15 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh37 Chromosome 2, 179444429: 179444429
16 TTN NM_001267550.2(TTN): c.67495C> T (p.Arg22499Ter) single nucleotide variant Pathogenic/Likely pathogenic rs574660186 GRCh38 Chromosome 2, 178579702: 178579702
17 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh37 Chromosome 2, 179478788: 179478788
18 TTN NM_001267550.2(TTN): c.49336dupT (p.Tyr16446Leufs) duplication Likely pathogenic rs797044683 GRCh38 Chromosome 2, 178614061: 178614061
19 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh37 Chromosome 2, 179469909: 179469909
20 TTN NM_001267550.2(TTN): c.53995G> T (p.Glu17999Ter) single nucleotide variant Likely pathogenic rs794727387 GRCh38 Chromosome 2, 178605182: 178605182
21 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh37 Chromosome 2, 179455771: 179455771
22 TTN NM_001267550.2(TTN): c.60681dupT (p.Lys20228Terfs) duplication Likely pathogenic rs797044692 GRCh38 Chromosome 2, 178591044: 178591044
23 TTN NM_001267550.2(TTN): c.79162G> T (p.Gly26388Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh37 Chromosome 2, 179431697: 179431697
24 TTN NM_001267550.2(TTN): c.79162G> T (p.Gly26388Ter) single nucleotide variant Likely pathogenic rs763822931 GRCh38 Chromosome 2, 178566970: 178566970
25 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh37 Chromosome 2, 179428314: 179428315
26 TTN NM_001267550.2(TTN): c.82544_82545insTTAG (p.Arg27515Serfs) insertion Likely pathogenic rs797044697 GRCh38 Chromosome 2, 178563587: 178563588
27 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh37 Chromosome 2, 179419591: 179419591
28 TTN NM_001267550.2(TTN): c.88594+1G> T single nucleotide variant Likely pathogenic rs794727467 GRCh38 Chromosome 2, 178554864: 178554864
29 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh37 Chromosome 2, 179418853: 179418859
30 TTN NM_001267550.2(TTN): c.88979_88985delATGGCGG (p.Asp29660Valfs) deletion Likely pathogenic rs794727468 GRCh38 Chromosome 2, 178554126: 178554132
31 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh37 Chromosome 2, 179402215: 179402215
32 TTN NM_001267550.2(TTN): c.99719C> G (p.Ser33240Ter) single nucleotide variant Likely pathogenic rs794727539 GRCh38 Chromosome 2, 178537488: 178537488
33 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh37 Chromosome 2, 179393311: 179393315
34 TTN NM_001267550.2(TTN): c.107163_107167delTACTT (p.Phe35721Leufs) deletion Likely pathogenic rs794727544 GRCh38 Chromosome 2, 178528584: 178528588
35 TTN NM_001267550.2(TTN): c.22145_22146delTT (p.Phe7382Terfs) deletion Pathogenic rs794727888 GRCh37 Chromosome 2, 179587480: 179587481
36 TTN NM_001267550.2(TTN): c.22145_22146delTT (p.Phe7382Terfs) deletion Pathogenic rs794727888 GRCh38 Chromosome 2, 178722753: 178722754
37 TTN NM_001256850.1(TTN): c.94037C> T (p.Ser31346Phe) single nucleotide variant Uncertain significance rs746380940 GRCh37 Chromosome 2, 179403702: 179403702
38 TTN NM_001256850.1(TTN): c.94037C> T (p.Ser31346Phe) single nucleotide variant Uncertain significance rs746380940 GRCh38 Chromosome 2, 178538975: 178538975
39 TTN NM_001256850.1(TTN): c.83797C> T (p.Arg27933Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200513274 GRCh37 Chromosome 2, 179419354: 179419354
40 TTN NM_001256850.1(TTN): c.83797C> T (p.Arg27933Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200513274 GRCh38 Chromosome 2, 178554627: 178554627
41 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh37 Chromosome 2, 179430009: 179430009
42 TTN NM_001256850.1(TTN): c.75927C> G (p.Tyr25309Ter) single nucleotide variant Likely pathogenic rs794729291 GRCh38 Chromosome 2, 178565282: 178565282
43 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh37 Chromosome 2, 179449688: 179449688
44 TTN NM_001256850.1(TTN): c.59757dupC (p.Gly19920Argfs) duplication Pathogenic/Likely pathogenic rs794729330 GRCh38 Chromosome 2, 178584961: 178584961
45 TTN NM_001256850.1(TTN): c.26562delT (p.Pro8855Glnfs) deletion Uncertain significance rs794729378 GRCh37 Chromosome 2, 179577136: 179577136
46 TTN NM_001256850.1(TTN): c.26562delT (p.Pro8855Glnfs) deletion Uncertain significance rs794729378 GRCh38 Chromosome 2, 178712409: 178712409
47 TTN NM_133378.4(TTN): c.38532C> A (p.Cys12844Ter) single nucleotide variant Likely pathogenic rs368200299 GRCh37 Chromosome 2, 179485012: 179485012
48 TTN NM_133378.4(TTN): c.38532C> A (p.Cys12844Ter) single nucleotide variant Likely pathogenic rs368200299 GRCh38 Chromosome 2, 178620285: 178620285
49 TTN NM_001267550.2(TTN): c.40558+1G> A single nucleotide variant Uncertain significance rs368219776 GRCh37 Chromosome 2, 179506963: 179506963
50 TTN NM_001267550.2(TTN): c.40558+1G> A single nucleotide variant Uncertain significance rs368219776 GRCh38 Chromosome 2, 178642236: 178642236

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 10.86 FTH1 TF
2 10.56 FTH1 TF
3 9.7 FTH1 TF

GO Terms for Cardiomyopathy, Familial Hypertrophic, 9

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.16 TF TTN
2 cellular iron ion homeostasis GO:0006879 8.96 FTH1 TF
3 iron ion transport GO:0006826 8.62 FTH1 TF

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

# Name GO ID Score Top Affiliating Genes
1 ferric iron binding GO:0008199 8.62 FTH1 TF

Sources for Cardiomyopathy, Familial Hypertrophic, 9

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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