CMH2
MCID: CRD065
MIFTS: 48

Cardiomyopathy, Familial Hypertrophic, 2 (CMH2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 2

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 2:

Name: Cardiomyopathy, Familial Hypertrophic, 2 57 13 70
Cmh2 57 12 72
Familial Hypertrophic Cardiomyopathy 2 29 6
Cardiomyopathy, Hypertrophic, 2 57 29
Hypertrophic Cardiomyopathy 2 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 2 39
Cardiomyopathy, Familial Hypertrophic 2 72
Cardiomyopathy Familial Hypertrophic 2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (1q3)
other forms at loci on chromosomes 11, 14, 15 and at least one other locus


HPO:

31
cardiomyopathy, familial hypertrophic, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110308
OMIM® 57 115195
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C1861864
SNOMED-CT via HPO 68 233873004 263681008 45227007
UMLS 70 C1861864

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 2: 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, 2, also known as cmh2, is related to carbuncle and barth syndrome. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 2 is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Salmonella infection (KEGG) and Insulin receptor recycling. The drug adrenomedullin has been mentioned in the context of this disorder. Affiliated tissues include lung, spinal cord and colon, and related phenotypes are hypertrophic cardiomyopathy and cardiovascular system

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).

More information from OMIM: 115195 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 carbuncle 10.2 CYCS CASP3
2 barth syndrome 10.1 TNNT2 CYCS ANXA5
3 occlusion precerebral artery 10.1 CYCS CASP3
4 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 DUOXA2 DUOX2
5 colorectal adenocarcinoma 10.0 CYCS CASP3 ANXA5
6 diabetic encephalopathy 10.0 HMOX1 CASP3
7 rhinosporidiosis 10.0 DUOX2 DUOX1
8 parasitic ichthyosporea infectious disease 10.0 DUOX2 DUOX1
9 cardiomyopathy, familial hypertrophic, 25 10.0 CASP3 ACTB
10 cardiomyopathy, familial hypertrophic, 1 10.0 TNNT2 CYCS CASP3 ACTB
11 leukemia, acute monocytic 9.9 GAPDH ANXA5 ACTB
12 colon adenocarcinoma 9.9 CYCS CASP3 ANXA5 ACTB
13 actinomycosis 9.9 GAPDH CASP3 ACTB
14 pelizaeus-merzbacher disease 9.9 GAPDH ANXA5 ACTB
15 granulomatous disease, chronic, x-linked 9.9 DUOX2 DUOX1 CYBB
16 metachromatic leukodystrophy 9.9 GAPDH CASP3 ACTB
17 thyroid gland follicular carcinoma 9.9 GAPDH DUOX1 ACTB
18 kagami-ogata syndrome 9.9 GAPDH CASP3 ACTB
19 amelogenesis imperfecta, type ig 9.9 GAPDH CASP3 ACTB
20 x-linked recessive disease 9.8 GAPDH CYBB ACTB
21 granulomatous disease, chronic, autosomal recessive, 4 9.8 DUOXA2 DUOX2 DUOX1 CYBB
22 retinitis pigmentosa 18 9.8 GAPDH CASP3 ANXA5 ACTB
23 x-linked monogenic disease 9.8 GAPDH CYBB ACTB
24 hypotrichosis 1 9.8 GAPDH CASP3 ANXA5 ACTB
25 kabuki syndrome 1 9.8 GAPDH CASP3 ANXA5 ACTB
26 tongue disease 9.8 GAPDH CASP3 ANXA5 ACTB
27 cervix carcinoma 9.8 GAPDH CASP3 ANXA5 ACTB
28 skin melanoma 9.8 GAPDH CASP3 ANXA5 ACTB
29 phagocyte bactericidal dysfunction 9.7 NOXA1 DUOX2 DUOX1 CYBB
30 ectodermal dysplasia 1, hypohidrotic, x-linked 9.7 HMOX1 GAPDH CASP3 ACTB
31 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.7 HMOX1 GAPDH CASP3 ACTB
32 autonomic nervous system neoplasm 9.6 GAPDH CYCS CASP3 ANXA5 ACTB
33 peripheral nervous system neoplasm 9.6 GAPDH CYCS CASP3 ANXA5 ACTB
34 myeloma, multiple 9.6 GAPDH CYCS CASP3 ANXA5 ACTB
35 chronic granulomatous disease 9.6 NOX5 DUOX2 DUOX1 CYCS CYBB
36 leukemia, acute myeloid 9.5 GAPDH CYCS CASP3 ANXA5 ACTB
37 toxic encephalopathy 9.5 HMOX1 GAPDH CYCS CASP3 ACTB
38 macular degeneration, age-related, 1 9.4 HMOX1 GAPDH CASP3 ACTB
39 vascular disease 9.4 HMOX1 GAPDH CYBB CASP3
40 peripheral nervous system disease 9.3 HMOX1 GAPDH CYCS CASP3 ANXA5 ACTB
41 myocardial infarction 9.3 TNNT2 HMOX1 GAPDH CYCS CASP3 ANXA5
42 neuroblastoma 9.3 HMOX1 GAPDH CYCS CASP3 ANXA5 ACTB
43 parkinson disease, late-onset 9.1 HMOX1 GAPDH CYCS CASP3 ACTB
44 retinitis pigmentosa 9.1 HMOX1 GAPDH CYCS CYBB CASP3 ANXA5
45 hypertension, essential 8.7 TNNT2 NOX5 HMOX1 GAPDH DUOX2 DUOX1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 2:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 2

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 2

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 2:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 HP:0001639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM®:

115195 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.28 ACTB CASP3 CYBB CYCS DUOX2 DUOXA2

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 2

Drugs for Cardiomyopathy, Familial Hypertrophic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 adrenomedullin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
2 Efficacy of Volume Targeted Pressure Support Ventilation vs. Pressure Support Ventilation in Patients With Acute Respiratory Failure at Risk of Obstructive Apneas or Obesity Hypoventilation Not yet recruiting NCT04131660

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 2

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 2

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 2:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 2 29 TNNT2
2 Cardiomyopathy, Hypertrophic, 2 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 2

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 2:

40
Lung, Spinal Cord, Colon, Thyroid, Skin, Cervix, Myeloid

Publications for Cardiomyopathy, Familial Hypertrophic, 2

Articles related to Cardiomyopathy, Familial Hypertrophic, 2:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 6 57
18651846 2008
2
Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. 57 6
9714088 1998
3
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 57 6
7898523 1995
4
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 6 57
8205619 1994
5
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. 6 57
7981753 1993
6
Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. 6
31514951 2019
7
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 6
28790153 2017
8
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 6
29367541 2017
9
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
10
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 6
29121657 2017
11
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 6
27036851 2016
12
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 6
26899768 2016
13
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 6
26914223 2016
14
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 6
26507537 2016
15
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 6
26656454 2015
16
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 6
26498512 2015
17
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 6
24691700 2015
18
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 6
25524337 2014
19
Genetics of hypertrophic cardiomyopathy in Norway. 6
24111713 2014
20
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 6
25031304 2014
21
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 6
24503780 2014
22
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 6
24793961 2014
23
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 6
24480310 2014
24
Hypertrophic cardiomyopathy: one gene … but many phenotypes. 6
24792744 2014
25
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 6
24992688 2014
26
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 6
24119082 2013
27
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 6
23494605 2013
28
A systematic approach to assessing the clinical significance of genetic variants. 6
24033266 2013
29
Cardiac muscle activation blunted by a mutation to the regulatory component, troponin T. 6
23897817 2013
30
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 6
23711808 2013
31
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 6
23539503 2013
32
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
33
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 6
23349452 2013
34
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 6
23663841 2013
35
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 6
23396983 2013
36
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 6
23233322 2013
37
Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 6
23383212 2013
38
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 6
24367593 2013
39
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 6
24205113 2013
40
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 6
22857948 2012
41
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 6
22579624 2012
42
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. 6
22517884 2012
43
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. 6
22334656 2012
44
Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 6
22260945 2012
45
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 6
22144547 2012
46
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 6
22112859 2012
47
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 6
22675533 2012
48
Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy. 6
22292720 2012
49
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 6
21846512 2011
50
Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations. 6
21683708 2011

Variations for Cardiomyopathy, Familial Hypertrophic, 2

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

6 (show top 50) (show all 254)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 GRCh37: 1:201334766-201334766
GRCh38: 1:201365638-201365638
2 TNNT2 TNNT2, IVS15, G-A, +1 SNV Pathogenic 12410 GRCh37:
GRCh38:
3 TNNT2 NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) SNV Pathogenic 12412 rs121964858 GRCh37: 1:201334372-201334372
GRCh38: 1:201365244-201365244
4 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) SNV Pathogenic 43628 rs397516457 GRCh37: 1:201334419-201334419
GRCh38: 1:201365291-201365291
5 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del) Microsatellite Pathogenic 43648 rs397516470 GRCh37: 1:201332505-201332507
GRCh38: 1:201363377-201363379
6 TNNT2 NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) SNV Pathogenic 165539 rs121964860 GRCh37: 1:201331116-201331116
GRCh38: 1:201361988-201361988
7 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) SNV Pathogenic 43636 rs397516463 GRCh37: 1:201333497-201333497
GRCh38: 1:201364369-201364369
8 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) SNV Pathogenic 43629 rs397516457 GRCh37: 1:201334419-201334419
GRCh38: 1:201365291-201365291
9 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) SNV Pathogenic 43627 rs397516456 GRCh37: 1:201334426-201334426
GRCh38: 1:201365298-201365298
10 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) SNV Pathogenic 177634 rs727504246 GRCh37: 1:201332458-201332458
GRCh38: 1:201363330-201363330
11 TNNT2 NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) SNV Pathogenic 43642 rs397516466 GRCh37: 1:201333469-201333469
GRCh38: 1:201364341-201364341
12 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV Pathogenic 165549 rs727503513 GRCh37: 1:201334420-201334420
GRCh38: 1:201365292-201365292
13 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) SNV Pathogenic 12409 rs121964856 GRCh37: 1:201334425-201334425
GRCh38: 1:201365297-201365297
14 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Pathogenic 177636 rs727504247 GRCh37: 1:201328345-201328345
GRCh38: 1:201359217-201359217
15 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 GRCh37: 1:201334766-201334766
GRCh38: 1:201365638-201365638
16 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) SNV Pathogenic 177635 rs397516484 GRCh37: 1:201328372-201328372
GRCh38: 1:201359244-201359244
17 TNNT2 NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) SNV Pathogenic 181625 GRCh37: 1:201331144-201331144
GRCh38: 1:201362016-201362016
18 TNNT2 NM_001276345.2(TNNT2):c.851+1G>A SNV Pathogenic 43673 rs111377893 GRCh37: 1:201328750-201328750
GRCh38: 1:201359622-201359622
19 TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) SNV Pathogenic 43649 rs397516471 GRCh37: 1:201332476-201332476
GRCh38: 1:201363348-201363348
20 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) SNV Pathogenic 228409 rs727503512 GRCh37: 1:201332477-201332477
GRCh38: 1:201363349-201363349
21 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) SNV Pathogenic 12415 rs74315380 GRCh37: 1:201333494-201333494
GRCh38: 1:201364366-201364366
22 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del) Microsatellite Pathogenic 43659 rs45578238 GRCh37: 1:201331099-201331101
GRCh38: 1:201361971-201361973
23 TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) SNV Pathogenic 43637 rs397516464 GRCh37: 1:201333493-201333493
GRCh38: 1:201364365-201364365
24 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 GRCh37: 1:201333464-201333464
GRCh38: 1:201364336-201364336
25 TNNT2 NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) SNV Likely pathogenic 181612 rs730881097 GRCh37: 1:201332480-201332480
GRCh38: 1:201363352-201363352
26 TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) SNV Likely pathogenic 180554 rs45586240 GRCh37: 1:201331117-201331117
GRCh38: 1:201361989-201361989
27 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) SNV Likely pathogenic 177635 rs397516484 GRCh37: 1:201328372-201328372
GRCh38: 1:201359244-201359244
28 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) SNV Likely pathogenic 43629 rs397516457 GRCh37: 1:201334419-201334419
GRCh38: 1:201365291-201365291
29 TNNT2 NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) SNV Likely pathogenic 567696 rs1558225569 GRCh37: 1:201332507-201332507
GRCh38: 1:201363379-201363379
30 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) SNV Likely pathogenic 177634 rs727504246 GRCh37: 1:201332458-201332458
GRCh38: 1:201363330-201363330
31 TNNT2 NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) SNV Likely pathogenic 181636 rs730881116 GRCh37: 1:201328344-201328344
GRCh38: 1:201359216-201359216
32 TNNT2 NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) SNV Likely pathogenic 43626 rs397516455 GRCh37: 1:201334745-201334745
GRCh38: 1:201365617-201365617
33 TNNT2 NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) SNV Likely pathogenic 177633 rs727504245 GRCh37: 1:201334389-201334389
GRCh38: 1:201365261-201365261
34 TNNT2 NM_001276345.2(TNNT2):c.851+1G>C SNV Likely pathogenic 181649 rs111377893 GRCh37: 1:201328750-201328750
GRCh38: 1:201359622-201359622
35 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Likely pathogenic 177636 rs727504247 GRCh37: 1:201328345-201328345
GRCh38: 1:201359217-201359217
36 TNNT2 NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) SNV Likely pathogenic 217496 rs863225120 GRCh37: 1:201331098-201331098
GRCh38: 1:201361970-201361970
37 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) SNV Likely pathogenic 217495 rs863225119 GRCh37: 1:201328760-201328760
GRCh38: 1:201359632-201359632
38 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) SNV Likely pathogenic 12409 rs121964856 GRCh37: 1:201334425-201334425
GRCh38: 1:201365297-201365297
39 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) SNV Conflicting interpretations of pathogenicity 217495 rs863225119 GRCh37: 1:201328760-201328760
GRCh38: 1:201359632-201359632
40 TNNT2 NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) SNV Conflicting interpretations of pathogenicity 181604 rs45520032 GRCh37: 1:201331068-201331068
GRCh38: 1:201361940-201361940
41 TNNT2 NM_001276345.2(TNNT2):c.851+5G>C SNV Uncertain significance 488163 rs193922620 GRCh37: 1:201328746-201328746
GRCh38: 1:201359618-201359618
42 TNNT2 NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) SNV Uncertain significance 181630 rs141805127 GRCh37: 1:201330442-201330442
GRCh38: 1:201361314-201361314
43 TNNT2 NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) SNV Uncertain significance 43638 rs397516464 GRCh37: 1:201333493-201333493
GRCh38: 1:201364365-201364365
44 TNNT2 NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) SNV Uncertain significance 180552 rs371142225 GRCh37: 1:201333479-201333479
GRCh38: 1:201364351-201364351
45 TNNT2 NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser) SNV Uncertain significance 961661 GRCh37: 1:201333428-201333428
GRCh38: 1:201364300-201364300
46 TNNT2 NM_001276345.2(TNNT2):c.482G>A (p.Arg161His) SNV Uncertain significance 437410 rs201048783 GRCh37: 1:201333433-201333433
GRCh38: 1:201364305-201364305
47 TNNT2 NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn) SNV Uncertain significance 918952 GRCh37: 1:201337332-201337332
GRCh38: 1:201368204-201368204
48 TNNT2 NM_001276345.2(TNNT2):c.411+1G>A SNV Uncertain significance 963817 GRCh37: 1:201334318-201334318
GRCh38: 1:201365190-201365190
49 TNNT2 NM_001276345.2(TNNT2):c.682G>C (p.Val228Leu) SNV Uncertain significance 967621 GRCh37: 1:201331078-201331078
GRCh38: 1:201361950-201361950
50 TNNT2 NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) SNV Uncertain significance 43612 rs397516447 GRCh37: 1:201337317-201337317
GRCh38: 1:201368189-201368189

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 TNNT2 p.Ile89Asn VAR_007605 rs121964855
2 TNNT2 p.Arg102Gln VAR_007606 rs121964856
3 TNNT2 p.Phe120Ile VAR_007607 rs121964858
4 TNNT2 p.Glu173Lys VAR_007609
5 TNNT2 p.Glu254Asp VAR_007610 rs45466197
6 TNNT2 p.Arg288Cys VAR_007612 rs121964857
7 TNNT2 p.Arg288Pro VAR_007613 rs397516484
8 TNNT2 p.Arg104Leu VAR_009194 rs397516457
9 TNNT2 p.Arg102Leu VAR_016195 rs121964856
10 TNNT2 p.Arg102Trp VAR_016196 rs397516456
11 TNNT2 p.Ala114Val VAR_016197 rs727504245
12 TNNT2 p.Ser189Phe VAR_016199 rs727504246
13 TNNT2 p.Phe80Leu VAR_019877 rs886039053
14 TNNT2 p.Phe120Val VAR_019878 rs121964858
15 TNNT2 p.Asn281Ile VAR_019879 rs863225119
16 TNNT2 p.Arg296Cys VAR_019880 rs367785431
17 TNNT2 p.Arg140Cys VAR_042747 rs397516463
18 TNNT2 p.Ala38Val VAR_067259 rs200754249

Expression for Cardiomyopathy, Familial Hypertrophic, 2

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 2.

Pathways for Cardiomyopathy, Familial Hypertrophic, 2

Pathways related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 TXN2 GAPDH CYCS CASP3 ACTB
2
Show member pathways
11.91 HMOX1 CYBB CASP3 ACTB
3 11.81 GAPDH CYCS CASP3
4
Show member pathways
11.8 CYCS CASP3 ACTB
5 11.76 NOXA1 CYBB ACTB
6 11.72 TXN2 HMOX1 ACTB
7 11.54 HMOX1 GAPDH CYBB
8 10.89 CYCS CASP3
9 10.79 CYCS CASP3
10
Show member pathways
10.66 TXN2 NOX5 CYCS CYBB
11 10.37 NOXA1 CYBB

GO Terms for Cardiomyopathy, Familial Hypertrophic, 2

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell leading edge GO:0031252 9.13 DUOXA2 DUOX2 DUOX1
2 NADPH oxidase complex GO:0043020 8.92 NOXA1 DUOX2 DUOX1 CYBB

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.85 PRELID1 NOX5 HMOX1 GAPDH CYCS CASP3
2 response to drug GO:0042493 9.78 TXN2 HMOX1 CYBB CASP3
3 cytokine-mediated signaling pathway GO:0019221 9.76 HMOX1 DUOX2 DUOX1 CASP3
4 defense response GO:0006952 9.72 DUOX2 DUOX1 CYBB
5 cellular response to oxidative stress GO:0034599 9.67 NOX5 CYCS CYBB
6 positive regulation of wound healing GO:0090303 9.56 DUOX2 DUOX1
7 response to oxidative stress GO:0006979 9.56 TXN2 HMOX1 DUOX2 DUOX1
8 oxidation-reduction process GO:0055114 9.56 TXN2 NOX5 HMOX1 GAPDH DUOX2 DUOX1
9 superoxide metabolic process GO:0006801 9.54 NOXA1 CYBB
10 endothelial cell proliferation GO:0001935 9.52 NOX5 HMOX1
11 thyroid hormone generation GO:0006590 9.51 DUOX2 DUOX1
12 hormone biosynthetic process GO:0042446 9.43 DUOX2 DUOX1
13 hydrogen peroxide biosynthetic process GO:0050665 9.4 DUOX2 DUOX1
14 positive regulation of cell motility GO:2000147 9.33 DUOXA2 DUOX2 DUOX1
15 cuticle development GO:0042335 9.32 DUOX2 DUOX1
16 superoxide anion generation GO:0042554 9.02 NOXA1 NOX5 DUOX2 DUOX1 CYBB

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.63 NOX5 HMOX1 GAPDH DUOX2 DUOX1 CYBB
2 NADP binding GO:0050661 9.43 NOX5 GAPDH DUOX1
3 heme binding GO:0020037 9.43 NOX5 HMOX1 DUOX2 DUOX1 CYCS CYBB
4 NAD(P)H oxidase activity GO:0016174 9.32 DUOX2 DUOX1
5 superoxide-generating NADPH oxidase activity GO:0016175 8.92 NOX5 DUOX2 DUOX1 CYBB

Sources for Cardiomyopathy, Familial Hypertrophic, 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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