CMH2
MCID: CRD065
MIFTS: 47

Cardiomyopathy, Familial Hypertrophic, 2 (CMH2)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 2

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 2:

Name: Cardiomyopathy, Familial Hypertrophic, 2 56 13 71
Cmh2 56 12 73
Familial Hypertrophic Cardiomyopathy 2 29 6
Cardiomyopathy, Hypertrophic, 2 56 29
Hypertrophic Cardiomyopathy 2 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 2 39
Cardiomyopathy, Familial Hypertrophic 2 73
Cardiomyopathy Familial Hypertrophic 2 12

Characteristics:

OMIM:

56
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 56 115195
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
MedGen 41 C1861864
SNOMED-CT via HPO 68 233873004 263681008 45227007
UMLS 71 C1861864

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

UniProtKB/Swiss-Prot : 73 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 diabetic encephalopathy and amelanotic melanoma. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 2 is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Alzheimers Disease. The drug adrenomedullin has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and prostate, and related phenotype is hypertrophic cardiomyopathy.

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 top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 diabetic encephalopathy 10.2 CAT CASP3
2 amelanotic melanoma 10.2 CYCS CAT ANXA5
3 testicular torsion 10.2 CAT CASP3
4 carbuncle 10.2 CYCS CAT CASP3
5 occlusion precerebral artery 10.1 CYCS CASP3
6 cardiomyopathy, familial hypertrophic, 25 10.1 CASP3 ACTB
7 atrial standstill 1 10.0
8 hepatoblastoma 10.0 CYCS CAT CASP3
9 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 10.0 DUOXA2 DUOX1 CYBB
10 ectodermal dysplasia 1, hypohidrotic, x-linked 9.9 PRDM10 CASP3 ACTB
11 ovary epithelial cancer 9.9 GAPDH CASP3 ACTB
12 cardiomyopathy, familial hypertrophic, 1 9.9
13 hypertrophic cardiomyopathy 9.9
14 malignant ovarian surface epithelial-stromal neoplasm 9.9 GAPDH CASP3 ACTB
15 retinitis pigmentosa 11 9.8 RPS3A GAPDH ACTB
16 hereditary lymphedema 9.8 RPS3A PRDM10 ACTB
17 colon adenocarcinoma 9.8 CYCS CASP3 ANXA5 ACTB
18 cataract 34, multiple types 9.8 GAPDH ACTB
19 tongue disease 9.8 GAPDH CASP3 ANXA5 ACTB
20 palmoplantar keratoderma, bothnian type 9.8 PRDM10 GAPDH ACTB
21 retinitis pigmentosa 24 9.8 PRDM10 GAPDH ACTB
22 drug-induced lupus erythematosus 9.8 PRDM10 GAPDH ACTB
23 spinal disease 9.7 GAPDH CASP3 ACTB
24 lens disease 9.7 PRDM10 GAPDH ACTB
25 hair disease 9.7 PRDM10 GAPDH ACTB
26 bladder urothelial carcinoma 9.7 GAPDH CASP3 ANXA5 ACTB
27 hypomyelinating leukodystrophy 9.7 PRDM10 GAPDH ACTB
28 cerebral degeneration 9.7 PRDM10 GAPDH ACTB
29 hereditary spherocytosis 9.7 RPS3A GAPDH ANXA5 ACTB
30 loeys-dietz syndrome 9.6 PRDM10 GAPDH ACTB
31 eye degenerative disease 9.6 PRDM10 GAPDH ACTB
32 actinomycosis 9.6 PRDM10 GAPDH CAT ACTB
33 granulomatous disease, chronic, x-linked 9.6 DUOX1 CYBB
34 integumentary system disease 9.6 PRDM10 GAPDH ACTB
35 diffuse idiopathic skeletal hyperostosis 9.6 RPS3A PRDM10 GAPDH
36 chronic granulomatous disease 9.5 NOX5 DUOX1 CYCS CYBB CAT
37 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.5 PRDM10 GAPDH CASP3 ACTB
38 ovary adenocarcinoma 9.5 PRDM10 GAPDH CASP3 ACTB
39 lymphoma, non-hodgkin, familial 9.5 GAPDH CYCS CASP3 ANXA5 ACTB
40 squamous cell carcinoma, head and neck 9.4 GAPDH CYCS CASP3 ANXA5 ACTB
41 retinitis pigmentosa 23 9.4 RPS3A PRDM10 GAPDH ACTB
42 hereditary lymphedema i 9.4 RPS3A PRDM10 GAPDH ACTB
43 kaufman oculocerebrofacial syndrome 9.4 RPS3A PRDM10 GAPDH ACTB
44 pelizaeus-merzbacher disease 9.4 RPS3A PRDM10 GAPDH ACTB
45 leukemia, chronic lymphocytic 9.4 GAPDH CYCS CASP3 ANXA5 ACTB
46 wilson-turner x-linked mental retardation syndrome 9.4 RPS3A PRDM10 GAPDH ACTB
47 metachromatic leukodystrophy 9.4 RPS3A PRDM10 GAPDH ACTB
48 kagami-ogata syndrome 9.4 RPS3A PRDM10 GAPDH ACTB
49 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.4 RPS3A PRDM10 GAPDH ACTB
50 autosomal genetic disease 9.4 RPS3A PRDM10 GAPDH ACTB

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:

56
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM:

115195

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 Evaluation at Rest and Exercise of Clinical, Ultrasonic and Neurohormonal Parameters in Hypertrophic Cardiomyopathies Completed NCT01729702
2 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
3 Study of Myocardial Deformation Parameters in Patients With Hypertrophic Cardiomyopathy Recruiting NCT04112511
4 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
Heart, Lung, Prostate, Spinal Cord, Testes, Kidney, Liver

Publications for Cardiomyopathy, Familial Hypertrophic, 2

Articles related to Cardiomyopathy, Familial Hypertrophic, 2:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 56 6
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. 56 6
9714088 1998
3
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 56 6
7898523 1995
4
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 6 56
8205619 1994
5
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. 56 6
7981753 1993
6
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
7
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
8
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
9
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
10
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
11
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
12
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
13
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
14
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
15
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
16
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
17
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
18
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
19
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
20
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
21
Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. 6
10405326 1999
22
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. 6
8958207 1996
23
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
24
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
25
Effect of chymotryptic troponin T subfragments on the calcium ion-sensitivity of ATPase and superprecipitation of actomyosin. 6
2946667 1986
26
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
27
Digital palpation of the pilot balloon vs. continuous manometry for controlling the intracuff pressure in laryngeal mask airways. 61
27501056 2016
28
Effects of continuous positive airway pressure on diaphragmatic kinetics and breathing pattern in healthy individuals. 61
27253912 2016
29
Biomechanical and biochemical characterization of porcine tracheal cartilage. 61
26825682 2016
30
Manual vs. pressure-controlled facemask ventilation for anaesthetic induction in paralysed children: a randomised controlled trial. 61
27109459 2016
31
Urodynamic Efficacy and Safety of Mirabegron Add-on Treatment with Tamsulosin for Japanese Male Patients with Overactive Bladder. 61
27619782 2016
32
Open lung approach ventilation abolishes the negative effects of respiratory rate in experimental lung injury. 61
27110871 2016
33
Improvement of the trigger of a ventilator for non-invasive ventilation in children: bench and clinical study. 61
25515939 2016
34
WHICH AIRWAY PRESSURE SHOULD BE APPLIED DURING BREATH-HOLD IN DOGS UNDERGOING THORACIC COMPUTED TOMOGRAPHY? 61
27412486 2016
35
Cystometric evaluation of recovery in hypocompliant defunctionalized bladder as a result of long-term dialysis after kidney transplantation. 61
27195975 2016
36
Optimum anesthesia for reliable urethral pressure profilometry in female dogs and goats. 61
27225822 2016
37
Effect of positive end-expiratory pressure on blood loss during retropubic and robot-assisted laparoscopic radical prostatectomy. 61
27225958 2016
38
Outcomes of living donor renal transplantation in children with lower urinary tract dysfunction: a comparative retrospective study. 61
26434410 2016
39
Zero expiratory pressure and low oxygen concentration promote heterogeneity of regional ventilation and lung densities. 61
27000315 2016
40
Comparison of effects of ProSeal LMA™ laryngeal mask airway cuff inflation with air, oxygen, air:oxygen mixture and oxygen:nitrous oxide mixture in adults: A randomised, double-blind study. 61
27601739 2016
41
There is no cephalocaudal gradient of computed tomography densities or lung behavior in supine patients with acute respiratory distress syndrome. 61
26806959 2016
42
The accuracy of delivery of target pressures using self-inflating bag manometers in a benchtop study. 61
26970561 2016
43
Aquablation - image-guided robot-assisted waterjet ablation of the prostate: initial clinical experience. 61
26477826 2016
44
Functional roles of bladder α1-adrenoceptors in the activation of single-unit primary bladder afferent activity in rats. 61
26332379 2016
45
Modulation of afferent nerve activity by prostaglandin E2 upon urinary bladder distension in rats. 61
26841236 2016
46
Open-label study evaluating outpatient urethral sphincter injections of onabotulinumtoxinA to treat women with urinary retention due to a primary disorder of sphincter relaxation (Fowler's syndrome). 61
26435296 2016
47
Clinical and urodynamic effects of baclofen in women with functional bladder outlet obstruction: Preliminary report. 61
27108667 2016
48
The Tulip GT® airway versus the facemask and Guedel airway: a randomised, controlled, cross-over study by Basic Life Support-trained airway providers in anaesthetised patients. 61
26684684 2016
49
A randomised comparison of the Ambu® AuraGain™ and the LMA® supreme in infants and children. 61
26648173 2016
50
Predictive factors of stress incontinence after posterior sacral rhizotomy. 61
25392969 2016

Variations for Cardiomyopathy, Familial Hypertrophic, 2

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

6 (show top 50) (show all 183) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)SNV Pathogenic 12408 rs121964855 1:201334766-201334766 1:201365638-201365638
2 TNNT2 NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)SNV Pathogenic 12412 rs121964858 1:201334372-201334372 1:201365244-201365244
3 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
4 TNNT2 TNNT2, IVS15, G-A, +1SNV Pathogenic 12410
5 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)SNV Pathogenic 43627 rs397516456 1:201334426-201334426 1:201365298-201365298
6 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)SNV Pathogenic 43628 rs397516457 1:201334419-201334419 1:201365291-201365291
7 TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)SNV Pathogenic 43637 rs397516464 1:201333493-201333493 1:201364365-201364365
8 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del)short repeat Pathogenic 43648 rs397516470 1:201332505-201332507 1:201363377-201363379
9 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)SNV Pathogenic 228409 rs727503512 1:201332477-201332477 1:201363349-201363349
10 TNNT2 NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)SNV Pathogenic/Likely pathogenic 181636 rs730881116 1:201328344-201328344 1:201359216-201359216
11 TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)SNV Pathogenic/Likely pathogenic 43649 rs397516471 1:201332476-201332476 1:201363348-201363348
12 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)SNV Pathogenic/Likely pathogenic 43636 rs397516463 1:201333497-201333497 1:201364369-201364369
13 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del)short repeat Pathogenic/Likely pathogenic 43659 rs45578238 1:201331099-201331101 1:201361971-201361973
14 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)SNV Pathogenic/Likely pathogenic 177636 rs727504247 1:201328345-201328345 1:201359217-201359217
15 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)SNV Pathogenic/Likely pathogenic 177634 rs727504246 1:201332458-201332458 1:201363330-201363330
16 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)SNV Pathogenic/Likely pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292
17 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)SNV Pathogenic/Likely pathogenic 43629 rs397516457 1:201334419-201334419 1:201365291-201365291
18 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)SNV Pathogenic/Likely pathogenic 12415 rs74315380 1:201333494-201333494 1:201364366-201364366
19 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)SNV Pathogenic/Likely pathogenic 12409 rs121964856 1:201334425-201334425 1:201365297-201365297
20 TNNT2 NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)SNV Likely pathogenic 567696 rs1558225569 1:201332507-201332507 1:201363379-201363379
21 TNNT2 NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)SNV Likely pathogenic 43626 rs397516455 1:201334745-201334745 1:201365617-201365617
22 TNNT2 NM_001276345.2(TNNT2):c.851+1G>CSNV Likely pathogenic 181649 rs111377893 1:201328750-201328750 1:201359622-201359622
23 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)SNV Likely pathogenic 217495 rs863225119 1:201328760-201328760 1:201359632-201359632
24 TNNT2 NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr)SNV Likely pathogenic 217496 rs863225120 1:201331098-201331098 1:201361970-201361970
25 TNNT2 NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)SNV Conflicting interpretations of pathogenicity 132943 rs483352832 1:201333455-201333455 1:201364327-201364327
26 TNNT2 NM_001276345.2(TNNT2):c.200-11A>GSNV Conflicting interpretations of pathogenicity 188682 rs368658464 1:201336010-201336010 1:201366882-201366882
27 TNNT2 NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)SNV Conflicting interpretations of pathogenicity 181604 rs45520032 1:201331068-201331068 1:201361940-201361940
28 TNNT2 NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)SNV Conflicting interpretations of pathogenicity 181617 rs730881101 1:201333463-201333463 1:201364335-201364335
29 TNNT2 NM_001276345.2(TNNT2):c.451del (p.Arg151fs)deletion Conflicting interpretations of pathogenicity 181635 rs730881115 1:201333464-201333464 1:201364336-201364336
30 TNNT2 NM_001276345.2(TNNT2):c.810+5G>ASNV Conflicting interpretations of pathogenicity 181633 rs730881113 1:201330402-201330402 1:201361274-201361274
31 TNNT2 NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)SNV Conflicting interpretations of pathogenicity 181630 rs141805127 1:201330442-201330442 1:201361314-201361314
32 TNNT2 NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)SNV Conflicting interpretations of pathogenicity 181612 rs730881097 1:201332480-201332480 1:201363352-201363352
33 TNNT2 NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)SNV Conflicting interpretations of pathogenicity 43620 rs397516451 1:201334764-201334764 1:201365636-201365636
34 TNNT2 NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)SNV Conflicting interpretations of pathogenicity 43621 rs140245123 1:201334762-201334762 1:201365634-201365634
35 TNNT2 NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)SNV Conflicting interpretations of pathogenicity 43638 rs397516464 1:201333493-201333493 1:201364365-201364365
36 TNNT2 NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)SNV Conflicting interpretations of pathogenicity 43631 rs397516459 1:201334409-201334409 1:201365281-201365281
37 TNNT2 NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)SNV Conflicting interpretations of pathogenicity 43642 rs397516466 1:201333469-201333469 1:201364341-201364341
38 TNNT2 NM_001276345.2(TNNT2):c.1A>G (p.Met1Val)SNV Conflicting interpretations of pathogenicity 811706 1:201342382-201342382 1:201373254-201373254
39 TNNT2 NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)SNV Conflicting interpretations of pathogenicity 43647 rs45501500 1:201332518-201332518 1:201363390-201363390
40 TNNT2 NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)SNV Conflicting interpretations of pathogenicity 177633 rs727504245 1:201334389-201334389 1:201365261-201365261
41 TNNT2 NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)SNV Conflicting interpretations of pathogenicity 177873 rs369181536 1:201330453-201330453 1:201361325-201361325
42 TNNT2 NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)SNV Conflicting interpretations of pathogenicity 165539 rs121964860 1:201331116-201331116 1:201361988-201361988
43 TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)SNV Conflicting interpretations of pathogenicity 180554 rs45586240 1:201331117-201331117 1:201361989-201361989
44 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)SNV Conflicting interpretations of pathogenicity 177635 rs397516484 1:201328372-201328372 1:201359244-201359244
45 TNNT2 NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)SNV Conflicting interpretations of pathogenicity 43672 rs376923877 1:201328765-201328765 1:201359637-201359637
46 TNNT2 NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)SNV Conflicting interpretations of pathogenicity 43675 rs200754249 1:201337340-201337340 1:201368212-201368212
47 TNNT2 NM_001276345.2(TNNT2):c.63T>G (p.Val21=)SNV Conflicting interpretations of pathogenicity 43660 rs397516477 1:201341159-201341159 1:201372031-201372031
48 TNNT2 NM_001276345.2(TNNT2):c.720-4G>TSNV Conflicting interpretations of pathogenicity 43664 rs201753429 1:201330501-201330501 1:201361373-201361373
49 TNNT2 NM_001276345.2(TNNT2):c.720-6G>ASNV Conflicting interpretations of pathogenicity 43665 rs113471285 1:201330503-201330503 1:201361375-201361375
50 TNNT2 NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)SNV Conflicting interpretations of pathogenicity 43667 rs45466197 1:201330455-201330455 1:201361327-201361327

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

73 (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

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 mitochondrial intermembrane space GO:0005758 9.13 PRELID1 CYCS CAT
2 NADPH oxidase complex GO:0043020 8.92 NOXA1 NOX5 DUOX1 CYBB

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

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.77 CASP3 CYCS GAPDH NOX5 PRELID1
2 negative regulation of apoptotic process GO:0043066 9.72 ANXA5 CASP3 CAT PRELID1 RPS3A
3 oxidation-reduction process GO:0055114 9.63 CAT CYBB CYCS DUOX1 GAPDH NOX5
4 superoxide metabolic process GO:0006801 9.43 CYBB NOXA1
5 positive regulation of cell motility GO:2000147 9.4 DUOX1 DUOXA2
6 hydrogen peroxide biosynthetic process GO:0050665 9.26 CYBB DUOX1
7 cellular response to oxidative stress GO:0034599 9.26 NOX5 CYCS CYBB CAT
8 superoxide anion generation GO:0042554 8.92 NOXA1 NOX5 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 9.65 NOX5 GAPDH DUOX1 CYBB CAT
2 heme binding GO:0020037 9.35 NOX5 DUOX1 CYCS CYBB CAT
3 superoxide-generating NADPH oxidase activity GO:0016175 9.33 NOX5 DUOX1 CYBB
4 NADP binding GO:0050661 8.92 NOX5 GAPDH DUOX1 CAT

Sources for Cardiomyopathy, Familial Hypertrophic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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