CMH9
MCID: CRD079
MIFTS: 39

Cardiomyopathy, Familial Hypertrophic, 9 (CMH9)

Categories: Cardiovascular diseases, Genetic 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 71
Cmh9 57 12 73
Familial Hypertrophic Cardiomyopathy 9 29 6
Hypertrophic Cardiomyopathy 9 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 9 39
Cardiomyopathy, Familial Hypertrophic 9 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient


HPO:

31
cardiomyopathy, familial hypertrophic, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110315
OMIM® 57 613765
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C1861065
SNOMED-CT via HPO 68 233873004 263681008 45227007
UMLS 71 C1861065

Summaries for Cardiomyopathy, Familial Hypertrophic, 9

UniProtKB/Swiss-Prot : 73 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 left ventricular noncompaction 2 and multiminicore disease. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 9 is TTN (Titin), and among its related pathways/superpathways are Cell adhesion molecules and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include heart and cardiac myocytes, and related phenotype is hypertrophic cardiomyopathy.

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

More information from OMIM: 613765 PS192600

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, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

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

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 2 10.4 TTN-AS1 TTN
2 multiminicore disease 10.4 TTN-AS1 TTN
3 hereditary proximal myopathy with early respiratory failure 10.4 TTN-AS1 TTN
4 salih myopathy 10.3 TTN-AS1 TTN
5 third-degree atrioventricular block 10.3 TTN-AS1 TTN
6 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 TTN-AS1 TTN
7 friedreich ataxia 2 10.3 FTMT FTHL17
8 lmna-related dilated cardiomyopathy 10.3 TTN-AS1 TTN
9 macrophage activation syndrome 10.3 FTL FTH1
10 spastic paraplegia 38, autosomal dominant 10.3 FTL FTH1
11 hemochromatosis, type 5 10.3 FTL FTH1
12 cortical thymoma 10.2 TTN CD4
13 dendritic cell thymoma 10.2 TTN CD4
14 tibial muscular dystrophy, tardive 10.2 TTN-AS1 TTN
15 neurodegeneration with brain iron accumulation 3 10.2 FTL FTH1
16 cork-handlers' disease 10.1 CD8A CD4
17 necrotic uveal melanoma 10.1 CD8A CD4
18 early yaws 10.1 CD8A CD4
19 bare lymphocyte syndrome, type i 10.1 CD8A CD4
20 ventilation pneumonitis 10.1 CD8A CD4
21 diffuse infiltrative lymphocytosis syndrome 10.1 CD8A CD4
22 latent syphilis 10.1 CD8A CD4
23 type 1 diabetes mellitus 23 10.1 CD8A CD4
24 autoimmune lymphoproliferative syndrome, type iia 10.1 CD8A CD4
25 parapsoriasis 10.1 CD8A CD4
26 gastroduodenitis 10.1 CD8A CD4
27 duodenitis 10.1 CD8A CD4
28 primary syphilis 10.1 CD8A CD4
29 norwegian scabies 10.1 CD8A CD4
30 bird fancier's lung 10.1 CD8A CD4
31 skin sarcoidosis 10.1 CD8A CD4
32 metal allergy 10.1 CD8A CD4
33 variola major 10.1 CD8A CD4
34 follicular mucinosis 10.1 CD8A CD4
35 tertiary syphilis 10.1 CD8A CD4
36 spongiotic dermatitis 10.1 CD8A CD4
37 acute retinal necrosis syndrome 10.1 CD8A CD4
38 cerebral lymphoma 10.1 CD8A CD4
39 oral tuberculosis 10.1 CD8A CD4
40 cerebritis 10.1 CD8A CD4
41 invasive malignant thymoma 10.1 CD8A CD4
42 west nile encephalitis 10.1 CD8A CD4
43 granulomatous hepatitis 10.1 CD8A CD4
44 exanthema subitum 10.1 CD8A CD4
45 immunodeficiency 36 10.1 CD8A CD4
46 viral exanthem 10.1 CD8A CD4
47 secondary syphilis 10.1 CD8A CD4
48 glanders 10.1 CD8A CD4
49 oral hairy leukoplakia 10.1 CD8A CD4
50 superficial basal cell carcinoma 10.1 CD8A CD4

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

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 9:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 very rare (1%) HP:0001639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
hypertrophic cardiomyopathy

Clinical features from OMIM®:

613765 (Updated 05-Mar-2021)

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:

40
Heart, Cardiac Myocytes

Publications for Cardiomyopathy, Familial Hypertrophic, 9

Articles related to Cardiomyopathy, Familial Hypertrophic, 9:

(show all 12)
# Title Authors PMID Year
1
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. 6 57
10462489 1999
2
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 57
23396983 2013
3
Truncations of titin causing dilated cardiomyopathy. 57
22335739 2012
4
Ablation of Ventricular Arrhythmias From the Left Ventricular Apex in Patients Without Ischemic Heart Disease. 61
32972543 2020
5
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. 61
28395030 2017
6
Cardiovascular Malformations in Infants of Diabetic Mothers: A Retrospective Case-Control Study. 61
28282706 2017
7
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 61
26507537 2016
8
The impact of diagnosis: measuring the psychological response to being diagnosed with serious or potentially lethal cardiac disease in young competitive athletes. 61
26612845 2016
9
Long-term prognostic value of coronary flow velocity reserve in patients with hypertrophic cardiomyopathy: 9-year follow-up results from SZEGED study. 61
19784818 2009
10
Impaired response of left ventricular relaxation to exercise-induced adrenergic stimulation in patients with hypertrophic cardiomyopathy. 61
8962560 1996
11
Insulin-like growth factor I receptors in human cardiac myocytes and their relation to myocardial hypertrophy. 61
8283604 1993
12
[Importance of programmed ventricular stimulation in patients with ventricular salvos]. 61
3673160 1987

Variations for Cardiomyopathy, Familial Hypertrophic, 9

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

6 (show top 50) (show all 162)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN-AS1 NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
2 TTN NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu) SNV Pathogenic 12649 rs28933405 2:179650726-179650726 2:178785999-178785999
3 TTN NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) SNV Pathogenic 282527 rs772235481 2:179597615-179597615 2:178732888-178732888
4 TTN NM_133378.4(TTN):c.10361-1G>A SNV Pathogenic 223347 rs869312099 2:179603088-179603088 2:178738361-178738361
5 TTN-AS1 NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
6 TTN-AS1 NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) Microsatellite Pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
7 TTN-AS1 NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) Duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
8 TTN-AS1 NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) SNV Likely pathogenic 47157 rs199512049 2:179456541-179456541 2:178591814-178591814
9 TTN-AS1 NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) SNV Likely pathogenic 488396 rs1213930919 2:179442512-179442512 2:178577785-178577785
10 TTN-AS1 NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter) SNV Likely pathogenic 830238 2:179438771-179438771 2:178574044-178574044
11 TTN-AS1 NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) SNV Likely pathogenic 982684 2:179455443-179455443 2:178590716-178590716
12 TTN-AS1 NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Likely pathogenic 374145 rs760768093 2:179397982-179397982 2:178533255-178533255
13 TTN-AS1 NM_001267550.2(TTN):c.48160+1G>A SNV Likely pathogenic 996000 2:179481455-179481455 2:178616728-178616728
14 TTN NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) SNV Uncertain significance 203120 rs374497665 2:179644084-179644084 2:178779357-178779357
15 TTN NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) SNV Uncertain significance 167799 rs727504205 2:179582842-179582842 2:178718115-178718115
16 TTN-AS1 NM_001267550.2(TTN):c.46304+6C>T SNV Uncertain significance 992363 2:179484938-179484938 2:178620211-178620211
17 TTN-AS1 NM_001267550.2(TTN):c.48426T>A (p.Tyr16142Ter) SNV Uncertain significance 829869 rs1576476485 2:179480402-179480402 2:178615675-178615675
18 TTN-AS1 NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) SNV Uncertain significance 596090 rs72646866 2:179447901-179447901 2:178583174-178583174
19 TTN NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser) SNV Uncertain significance 982682 2:179650393-179650393 2:178785666-178785666
20 TTN-AS1 NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter) SNV Uncertain significance 982683 2:179477915-179477915 2:178613188-178613188
21 TTN NM_001267550.2(TTN):c.11311+3080del Deletion Uncertain significance 225507 rs1085307104 2:179614771-179614771 2:178750044-178750044
22 TTN NM_001267550.2(TTN):c.11311+1080del Deletion Uncertain significance 47724 rs58651353 2:179616771-179616771 2:178752044-178752044
23 TTN-AS1 NM_001267550.2(TTN):c.96904+4T>C SNV Uncertain significance 47572 rs373514079 2:179407792-179407792 2:178543065-178543065
24 TTN NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) SNV Uncertain significance 178217 rs192766485 2:179494968-179494968 2:178630241-178630241
25 TTN-AS1 NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) SNV Uncertain significance 203044 rs746380940 2:179403702-179403702 2:178538975-178538975
26 TTN NM_001267550.2(TTN):c.40558+1G>A SNV Uncertain significance 223256 rs368219776 2:179506963-179506963 2:178642236-178642236
27 TTN NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) SNV Uncertain significance 405141 rs374682077 2:179596871-179596871 2:178732144-178732144
28 TTN NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val) SNV Uncertain significance 561139 rs1560628327 2:179582008-179582008 2:178717281-178717281
29 TTN NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn) SNV Uncertain significance 561140 rs769967388 2:179495975-179495975 2:178631248-178631248
30 TTN-AS1 NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp) SNV Uncertain significance 561141 rs1559507734 2:179446680-179446680 2:178581953-178581953
31 TTN-AS1 NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) SNV Uncertain significance 202702 rs377571654 2:179472908-179472908 2:178608181-178608181
32 TTN-AS1 NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) SNV Uncertain significance 179648 rs727505020 2:179397081-179397081 2:178532354-178532354
33 TTN-AS1 NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) SNV Uncertain significance 202718 rs199837769 2:179468618-179468618 2:178603891-178603891
34 TTN-AS1 NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) SNV Uncertain significance 179862 rs540161344 2:179439136-179439136 2:178574409-178574409
35 TTN-AS1 NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) SNV Uncertain significance 202827 rs369526268 2:179440289-179440289 2:178575562-178575562
36 TTN-AS1 NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) SNV Uncertain significance 96298 rs199506676 2:179442329-179442329 2:178577602-178577602
37 TTN-AS1 NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) SNV Uncertain significance 47234 rs140842479 2:179446705-179446705 2:178581978-178581978
38 TTN NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) SNV Uncertain significance 96282 rs398124448 2:179523777-179523777 2:178659050-178659050
39 TTN NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) SNV Uncertain significance 179053 rs367720439 2:179548765-179548765 2:178684038-178684038
40 TTN-AS1 NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) SNV Uncertain significance 203112 rs772957495 2:179393373-179393373 2:178528646-178528646
41 TTN-AS1 NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) SNV Uncertain significance 47714 rs374405802 2:179393641-179393641 2:178528914-178528914
42 TTN-AS1 NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) SNV Uncertain significance 284089 rs886042785 2:179396449-179396449 2:178531722-178531722
43 TTN-AS1 NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) SNV Uncertain significance 196655 rs774131659 2:179396682-179396682 2:178531955-178531955
44 TTN-AS1 NM_001267550.2(TTN):c.104194C>G (p.His34732Asp) SNV Uncertain significance 535524 rs753769495 2:179397148-179397148 2:178532421-178532421
45 TTN-AS1 NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) SNV Uncertain significance 178832 rs727504476 2:179397342-179397342 2:178532615-178532615
46 TTN-AS1 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) SNV Uncertain significance 203056 rs368321767 2:179401027-179401027 2:178536300-178536300
47 TTN-AS1 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) SNV Uncertain significance 203055 rs372304158 2:179401042-179401042 2:178536315-178536315
48 TTN-AS1 NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) SNV Uncertain significance 165664 rs200166942 2:179401074-179401074 2:178536347-178536347
49 TTN-AS1 NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) SNV Uncertain significance 535324 rs777035261 2:179403302-179403302 2:178538575-178538575
50 TTN-AS1 NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) SNV Uncertain significance 238875 rs142108986 2:179403378-179403378 2:178538651-178538651

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

73
# Symbol AA change Variation ID SNP ID
1 TTN p.Arg740Leu VAR_026687 rs28933405

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 11.67 HLA-A CD8A CD4
2 11.5 CEACAM5 CD8A CD4
3
Show member pathways
11.38 HLA-A CD8A CD4
4
Show member pathways
11.17 HLA-A CD8A CD4
5 10.41 FTMT FTL FTH1

GO Terms for Cardiomyopathy, Familial Hypertrophic, 9

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

# Name GO ID Score Top Affiliating Genes
1 autolysosome GO:0044754 8.96 FTL FTH1
2 intracellular ferritin complex GO:0008043 8.62 FTL FTH1

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.56 HLA-A FTH1 CD8A CD4
2 cellular iron ion homeostasis GO:0006879 9.46 FTMT FTL FTHL17 FTH1
3 iron ion transport GO:0006826 9.26 FTMT FTL FTHL17 FTH1
4 intracellular sequestering of iron ion GO:0006880 8.92 FTMT FTL FTHL17 FTH1

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 9.73 TTN SEPTIN4 FTL ESR1 CEACAM5 CD4
2 ferroxidase activity GO:0004322 9.33 FTMT FTHL17 FTH1
3 ferrous iron binding GO:0008198 9.26 FTMT FTL FTHL17 FTH1
4 ferric iron binding GO:0008199 8.92 FTMT FTL FTHL17 FTH1

Sources for Cardiomyopathy, Familial Hypertrophic, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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