CMH2
MCID: CRD065
MIFTS: 47

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 71
Cmh2 57 12 73
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 73
Cardiomyopathy Familial Hypertrophic 2 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 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 barth syndrome and occlusion precerebral artery. 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 heart, 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 barth syndrome 10.1 TNNT2 CYCS ANXA5
2 occlusion precerebral artery 10.1 CYCS CASP3
3 carbuncle 10.1 CYCS CASP3 ACTB
4 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 DUOXA2 DUOX2
5 cardiomyopathy, familial hypertrophic, 25 10.1 CASP3 ACTB
6 rhinosporidiosis 10.1 DUOX2 DUOX1
7 acute dacryocystitis 10.1 DUOX2 DUOX1
8 diabetic encephalopathy 10.1 HMOX1 CASP3
9 parasitic ichthyosporea infectious disease 10.1 DUOX2 DUOX1
10 colorectal adenocarcinoma 10.1 CYCS CASP3 ANXA5
11 cardiomyopathy, familial hypertrophic, 1 10.0 TNNT2 CYCS CASP3 ACTB
12 leukemia, acute monocytic 10.0 GAPDH ANXA5 ACTB
13 cataract 34, multiple types 10.0 GAPDH ACTB
14 colon adenocarcinoma 9.9 CYCS CASP3 ANXA5 ACTB
15 actinomycosis 9.9 GAPDH CASP3 ACTB
16 pelizaeus-merzbacher disease 9.9 GAPDH ANXA5 ACTB
17 thyroid gland follicular carcinoma 9.9 GAPDH DUOX1 ACTB
18 amelogenesis imperfecta, type ig 9.9 GAPDH CASP3 ACTB
19 metachromatic leukodystrophy 9.9 GAPDH CASP3 ACTB
20 malignant ovarian surface epithelial-stromal neoplasm 9.9 GAPDH CASP3 ACTB
21 psoriasis 13 9.9 GAPDH ACTB
22 kagami-ogata syndrome 9.9 GAPDH CASP3 ACTB
23 spinal disease 9.8 GAPDH CASP3 ACTB
24 x-linked recessive disease 9.8 GAPDH CYBB ACTB
25 x-linked monogenic disease 9.8 GAPDH CYBB ACTB
26 granulomatous disease, chronic, autosomal recessive, 4 9.8 DUOXA2 DUOX2 DUOX1 CYBB
27 retinitis pigmentosa 18 9.8 GAPDH CASP3 ANXA5 ACTB
28 hypotrichosis 1 9.8 GAPDH CASP3 ANXA5 ACTB
29 tongue disease 9.8 GAPDH CASP3 ANXA5 ACTB
30 kabuki syndrome 1 9.8 GAPDH CASP3 ANXA5 ACTB
31 cervix carcinoma 9.8 GAPDH CASP3 ANXA5 ACTB
32 peripheral nervous system neoplasm 9.8 GAPDH CYCS CASP3 ACTB
33 skin melanoma 9.8 GAPDH CASP3 ANXA5 ACTB
34 congenital hypothyroidism 9.8 DUOXA2 DUOX2 DUOX1
35 phagocyte bactericidal dysfunction 9.7 NOXA1 DUOX2 DUOX1 CYBB
36 granulomatous disease, chronic, x-linked 9.7 NOXA1 DUOX2 DUOX1 CYBB
37 ectodermal dysplasia 1, hypohidrotic, x-linked 9.7 HMOX1 GAPDH CASP3 ACTB
38 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.7 HMOX1 GAPDH CASP3 ACTB
39 autonomic nervous system neoplasm 9.6 GAPDH CYCS CASP3 ANXA5 ACTB
40 myeloma, multiple 9.6 GAPDH CYCS CASP3 ANXA5 ACTB
41 leukemia, acute myeloid 9.6 GAPDH CYCS CASP3 ANXA5 ACTB
42 toxic encephalopathy 9.5 HMOX1 GAPDH CYCS CASP3 ACTB
43 macular degeneration, age-related, 1 9.5 HMOX1 GAPDH CASP3 ACTB
44 vascular disease 9.4 HMOX1 GAPDH CYBB CASP3
45 chronic granulomatous disease 9.4 NOXA1 NOX5 DUOX2 DUOX1 CYCS CYBB
46 peripheral nervous system disease 9.4 HMOX1 GAPDH CYCS CASP3 ANXA5 ACTB
47 myocardial infarction 9.3 TNNT2 HMOX1 GAPDH CYCS CASP3 ANXA5
48 neuroblastoma 9.3 HMOX1 GAPDH CYCS CASP3 ANXA5 ACTB
49 retinitis pigmentosa 9.1 HMOX1 GAPDH CYCS CYBB CASP3 ANXA5
50 disease of mental health 8.7 HMOX1 GAPDH CYCS CYBB CASP3 ANXA5

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 05-Mar-2021)
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM®:

115195 (Updated 05-Mar-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, Heart, Kidney, Liver, Prostate

Publications for Cardiomyopathy, Familial Hypertrophic, 2

Articles related to Cardiomyopathy, Familial Hypertrophic, 2:

(show top 50) (show all 132)
# Title Authors PMID Year
1
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 57 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. 6 57
9714088 1998
3
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 6 57
7898523 1995
4
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 57 6
8205619 1994
5
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. 6 57
7981753 1993
6
Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. 6
10405326 1999
7
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. 6
8958207 1996
8
Effect of chymotryptic troponin T subfragments on the calcium ion-sensitivity of ATPase and superprecipitation of actomyosin. 6
2946667 1986
9
Effect of Positive Airway Pressure During Preoxygenation on Safe Apnea Period: a comparison of the supine and 25° head up position. 61
33594024 2020
10
Effects of continuous positive airway pressure on diaphragmatic kinetics and breathing pattern in healthy individuals. 61
27253912 2016
11
Digital palpation of the pilot balloon vs. continuous manometry for controlling the intracuff pressure in laryngeal mask airways. 61
27501056 2016
12
Biomechanical and biochemical characterization of porcine tracheal cartilage. 61
26825682 2016
13
Manual vs. pressure-controlled facemask ventilation for anaesthetic induction in paralysed children: a randomised controlled trial. 61
27109459 2016
14
Open lung approach ventilation abolishes the negative effects of respiratory rate in experimental lung injury. 61
27110871 2016
15
Improvement of the trigger of a ventilator for non-invasive ventilation in children: bench and clinical study. 61
25515939 2016
16
WHICH AIRWAY PRESSURE SHOULD BE APPLIED DURING BREATH-HOLD IN DOGS UNDERGOING THORACIC COMPUTED TOMOGRAPHY? 61
27412486 2016
17
Urodynamic Efficacy and Safety of Mirabegron Add-on Treatment with Tamsulosin for Japanese Male Patients with Overactive Bladder. 61
27619782 2016
18
Optimum anesthesia for reliable urethral pressure profilometry in female dogs and goats. 61
27225822 2016
19
Effect of positive end-expiratory pressure on blood loss during retropubic and robot-assisted laparoscopic radical prostatectomy. 61
27225958 2016
20
Zero expiratory pressure and low oxygen concentration promote heterogeneity of regional ventilation and lung densities. 61
27000315 2016
21
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
22
Outcomes of living donor renal transplantation in children with lower urinary tract dysfunction: a comparative retrospective study. 61
26434410 2016
23
Cystometric evaluation of recovery in hypocompliant defunctionalized bladder as a result of long-term dialysis after kidney transplantation. 61
27195975 2016
24
There is no cephalocaudal gradient of computed tomography densities or lung behavior in supine patients with acute respiratory distress syndrome. 61
26806959 2016
25
Aquablation - image-guided robot-assisted waterjet ablation of the prostate: initial clinical experience. 61
26477826 2016
26
Functional roles of bladder α1-adrenoceptors in the activation of single-unit primary bladder afferent activity in rats. 61
26332379 2016
27
The accuracy of delivery of target pressures using self-inflating bag manometers in a benchtop study. 61
26970561 2016
28
Clinical and urodynamic effects of baclofen in women with functional bladder outlet obstruction: Preliminary report. 61
27108667 2016
29
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
30
Modulation of afferent nerve activity by prostaglandin E2 upon urinary bladder distension in rats. 61
26841236 2016
31
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
32
The effectiveness of nasal mask vs face mask ventilation in anesthetized, apneic pediatric subjects over 2 years of age: a randomized controlled trial. 61
26725988 2016
33
Newborn manikin study shows that physicians often fail to detect correct lung compliance when using a self-inflating bag. 61
26153507 2016
34
A randomised comparison of the Ambu® AuraGain™ and the LMA® supreme in infants and children. 61
26648173 2016
35
Predictive factors of stress incontinence after posterior sacral rhizotomy. 61
25392969 2016
36
Factors influencing delivered mean airway pressure during nasal CPAP with the RAM cannula. 61
25851534 2016
37
Lung stress and strain calculations in mechanically ventilated patients in the intensive care unit. 61
26192561 2016
38
Voiding dysfunction in older women with overactive bladder symptoms: A comparison of urodynamic parameters between women with normal and elevated post-void residual urine. 61
25400112 2016
39
Preserved oxygenation in obese patients receiving protective ventilation during laparoscopic surgery: a randomized controlled study. 61
26235391 2016
40
A comparison of the i-gel(™) and the PRO-Breathe(®) laryngeal mask during pressure support ventilation in children. 61
26355492 2015
41
Telemetric monitoring of bladder function in female Göttingen minipigs. 61
25682883 2015
42
High PEEP levels are associated with overdistension and tidal recruitment/derecruitment in ARDS patients. 61
26061818 2015
43
Video-urodynamic effects of mirabegron, a β3 -adrenoceptor agonist, in patients with low-compliance bladder. 61
26177781 2015
44
Comparative analysis of the pressure profilometry of vesicocutaneous continent catheterizable conduits between patients with and without rectus abdominis neosphincter (Yachia principle). 61
24976034 2015
45
A novel continuous capnodynamic method for cardiac output assessment in a porcine model of lung lavage. 61
26041115 2015
46
Suture-Free Ureterovesical Anastomosis Using a Microvascular Anastomosis System: Canine Cadaveric Study. 61
25944776 2015
47
Comparison of air-Q and Ambu Aura-i for controlled ventilation in infants: a randomized controlled trial. 61
25917434 2015
48
Positional effects on lung mechanics of ventilated preterm infants with acute and chronic lung disease. 61
24706414 2015
49
High-flow nasal cannulae are associated with increased diaphragm activation compared with nasal continuous positive airway pressure in preterm infants. 61
25759095 2015
50
Reliability of manikin-based studies: an evaluation of manikin characteristics and their impact on measurements of ventilatory variables. 61
25988276 2015

Variations for Cardiomyopathy, Familial Hypertrophic, 2

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

6 (show top 50) (show all 226)
# 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 TNNT2, IVS15, G-A, +1 SNV Pathogenic 12410
3 TNNT2 NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) SNV Pathogenic 12412 rs121964858 1:201334372-201334372 1:201365244-201365244
4 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) SNV Pathogenic 43628 rs397516457 1:201334419-201334419 1:201365291-201365291
5 TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) SNV Pathogenic 43649 rs397516471 1:201332476-201332476 1:201363348-201363348
6 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del) Microsatellite Pathogenic 43648 rs397516470 1:201332505-201332507 1:201363377-201363379
7 TNNT2 NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) SNV Pathogenic 165539 rs121964860 1:201331116-201331116 1:201361988-201361988
8 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) SNV Pathogenic 43636 rs397516463 1:201333497-201333497 1:201364369-201364369
9 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) SNV Pathogenic 43629 rs397516457 1:201334419-201334419 1:201365291-201365291
10 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) SNV Pathogenic 177634 rs727504246 1:201332458-201332458 1:201363330-201363330
11 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) SNV Pathogenic 43627 rs397516456 1:201334426-201334426 1:201365298-201365298
12 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) SNV Pathogenic 228409 rs727503512 1:201332477-201332477 1:201363349-201363349
13 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) SNV Pathogenic 12415 rs74315380 1:201333494-201333494 1:201364366-201364366
14 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
15 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del) Microsatellite Pathogenic 43659 rs45578238 1:201331099-201331101 1:201361971-201361973
16 TNNT2 NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) SNV Pathogenic 43642 rs397516466 1:201333469-201333469 1:201364341-201364341
17 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV Pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292
18 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) SNV Pathogenic 12409 rs121964856 1:201334425-201334425 1:201365297-201365297
19 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Pathogenic 177636 rs727504247 1:201328345-201328345 1:201359217-201359217
20 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 1:201334766-201334766 1:201365638-201365638
21 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) SNV Pathogenic 177635 rs397516484 1:201328372-201328372 1:201359244-201359244
22 TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) SNV Pathogenic 43637 rs397516464 1:201333493-201333493 1:201364365-201364365
23 TNNT2 NM_001276345.2(TNNT2):c.851+1G>A SNV Pathogenic 43673 rs111377893 1:201328750-201328750 1:201359622-201359622
24 TNNT2 NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) SNV Pathogenic 181625 1:201331144-201331144 1:201362016-201362016
25 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) SNV Likely pathogenic 177635 rs397516484 1:201328372-201328372 1:201359244-201359244
26 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) SNV Likely pathogenic 43629 rs397516457 1:201334419-201334419 1:201365291-201365291
27 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) SNV Likely pathogenic 177634 rs727504246 1:201332458-201332458 1:201363330-201363330
28 TNNT2 NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) SNV Likely pathogenic 181612 rs730881097 1:201332480-201332480 1:201363352-201363352
29 TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) SNV Likely pathogenic 180554 rs45586240 1:201331117-201331117 1:201361989-201361989
30 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) SNV Likely pathogenic 217495 rs863225119 1:201328760-201328760 1:201359632-201359632
31 TNNT2 NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) SNV Likely pathogenic 567696 rs1558225569 1:201332507-201332507 1:201363379-201363379
32 TNNT2 NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) SNV Likely pathogenic 43626 rs397516455 1:201334745-201334745 1:201365617-201365617
33 TNNT2 NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) SNV Likely pathogenic 181636 rs730881116 1:201328344-201328344 1:201359216-201359216
34 TNNT2 NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) SNV Likely pathogenic 177633 rs727504245 1:201334389-201334389 1:201365261-201365261
35 TNNT2 NM_001276345.2(TNNT2):c.851+1G>C SNV Likely pathogenic 181649 rs111377893 1:201328750-201328750 1:201359622-201359622
36 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Likely pathogenic 177636 rs727504247 1:201328345-201328345 1:201359217-201359217
37 TNNT2 NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) SNV Likely pathogenic 217496 rs863225120 1:201331098-201331098 1:201361970-201361970
38 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) SNV Likely pathogenic 217495 rs863225119 1:201328760-201328760 1:201359632-201359632
39 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) SNV Likely pathogenic 12409 rs121964856 1:201334425-201334425 1:201365297-201365297
40 TNNT2 NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) SNV Conflicting interpretations of pathogenicity 181604 rs45520032 1:201331068-201331068 1:201361940-201361940
41 TNNT2 NM_001276345.2(TNNT2):c.851+5G>C SNV Uncertain significance 488163 rs193922620 1:201328746-201328746 1:201359618-201359618
42 TNNT2 NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) SNV Uncertain significance 181630 rs141805127 1:201330442-201330442 1:201361314-201361314
43 TNNT2 NM_001276345.2(TNNT2):c.10A>C (p.Ile4Leu) SNV Uncertain significance 449216 rs139705141 1:201342373-201342373 1:201373245-201373245
44 TNNT2 NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter) SNV Uncertain significance 572139 rs1558225837 1:201332531-201332531 1:201363403-201363403
45 TNNT2 NM_001276345.2(TNNT2):c.163+5G>A SNV Uncertain significance 177643 rs727504254 1:201337285-201337285 1:201368157-201368157
46 TNNT2 NM_001276345.2(TNNT2):c.10A>G (p.Ile4Val) SNV Uncertain significance 572499 rs139705141 1:201342373-201342373 1:201373245-201373245
47 TNNT2 NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) SNV Uncertain significance 294895 rs886045828 1:201331069-201331069 1:201361941-201361941
48 TNNT2 NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp) SNV Uncertain significance 181643 rs730881123 1:201333443-201333443 1:201364315-201364315
49 TNNT2 NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys) SNV Uncertain significance 575780 rs1350800220 1:201337353-201337353 1:201368225-201368225
50 TNNT2 NM_001276345.2(TNNT2):c.451del (p.Arg151fs) Deletion Uncertain significance 181635 rs730881115 1:201333464-201333464 1:201364336-201364336

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

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 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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