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Genes (43)
Species:
human : 43 | |
| Human | MUC16 | 94025 | mucin 16, cell surface associated | This is th e first study to show that serum CA 125 is related to the presence and severity of heart failure and diastolic dysfunction in hypertrophic cardiomyopathy | | Human | OBSCN | 84033 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Studies suggest that the obscurin abnormality may be involved in the pathogenesis of hypertrophic cardiomyopathy | | Human | ACE2 | 59272 | angiotensin I converting enzyme 2 | Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy | | Human | JPH2 | 57158 | junctophilin 2 | this is the first report on JPH2 mutation associated with hypertrophic cardiomyopathy Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy | | Human | MRPS22 | 56945 | mitochondrial ribosomal protein S22 | A mutation in the MRPS22 gene led to reduction of 12sRNA in fibroblasts and fatal neonatal hypertrophic cardiomyopathy & kidney tubulopathy | | Human | MYOZ2 | 51778 | myozenin 2 | Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias | | Human | PRKAG2 | 51422 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | The study describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities | | Human | SCO2 | 9997 | SCO2 cytochrome c oxidase assembly protein | Mutations in the SCO2 gene are a cause of prenatal-onset hypertrophic cardiomyopathy Title:Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.|Association:Y|Conclusion:Not Found One novel SCO2 mutation has been identified in a patient with hypertrophic cardiomyopathy | | Human | TCAP | 8557 | titin-cap | TCAP mutations identified which are associated with hypertrophic cardiomyopathy | | Human | CSRP3 | 8048 | cysteine and glycine-rich protein 3 (cardiac LIM protein) | Study used linkage analysis and identified a CSRP3 missense mutation in a large German family affected by hypertrophic cardiomyopathy Mutations in the CRP3/MLP gene can cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) | | Human | VCL | 7414 | vinculin | a vinculin missense mutation confers susceptibility to hypertrophic cardiomyopathy | | Human | TPM1 | 7168 | tropomyosin 1 (alpha) | Title:Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.|Association:Not Found|Conclusion:Mutations in genes encoding thin filament proteins are less prevalent in HCM than previously estimated. Patients with mutations in troponin T, troponin I, alpha-tropomyosin, and actin do not invariably present with any distinct clinical feature, thus limiting the utility of gene status for risk stratification or of clinical phenotype in guiding individual genetic screening at this time. the expression of the human Hypertrophic Cardiomyopathy Mutant Tropomyosin in transgenic Mice results in myocardial contractile dysfunction data illustrate that, in general, dilated cardiomyopathy and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposite effects on the Ca2+ affinity of reconstituted thin filaments in hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myocardial oxidative metabolism and FFA metabolism are increased and inversely related to LV hypertrophy at both the whole heart and regional level | | Human | TNNT2 | 7139 | troponin T type 2 (cardiac) | results strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of hypertrophic cardiomyopathy in this Chinese family Troponin T mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy | | Human | TNNI3 | 7137 | troponin I type 3 (cardiac) | Gene mutations in cardiac troponin I occur in Australian families with hypertrophic cardiomyopathy with a prevalence higher than previously reported and may be associated with a clinically more malignant course both hypertrophic cardiomyopathy and restrictive cardiomyopathy involving cardiac troponin I mutations share a common feature of increased Ca2+ sensitivity of cardiac myofilament Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility | | Human | TNNC1 | 7134 | troponin C type 1 (slow) | A hypertrophic cardiomyopathy susceptibility gene | | Human | SGCD | 6444 | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | The 5'-UTR G to C polymorphism on delta-sarcoglycan gene was associated with coronary spasm in Japanese patients with hypertrophic cardiomyopathy | | Human | RAF1 | 5894 | v-raf-1 murine leukemia viral oncogene homolog 1 | Study identified 5 mutations in RAF1 in 10 individuals with Noonan syndrome; those with mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy, while those with mutations leading to changes in the CR3 domain did not | | Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | data suggests that mutations in the PTPN11 gene are not a cause of hypertrophic cardiomyopathy in the absence of Noonan/LEOPARD syndromes | | Human | PLN | 5350 | phospholamban | Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy | | Human | SLC25A3 | 5250 | solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 | SLC25A3 protein deficiency is associated with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia | | Human | NPPB | 4879 | natriuretic peptide B | findings show that in patients with nonobstructive hypertrophic cardiomyopathy attributable to an Asp175Asn mutation in the alpha-tropomyosin gene, elevated NT-pro-BNP levels are associated with incipient left ventricular remodeling | | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Polymorphism I/D for the eNOS gene is described as modyfying for the gene ACE, worsening the hypertrophic cardiomyopathy condition a moderate increase in eNOS activity associated with loss of caveolin-3 results in hypertrophic cardiomyopathy | | Human | NDUFV2 | 4729 | NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa | mutation causes early onset hypertrophic cardiomyopathy and encephalopathy | | Human | MYH7 | 4625 | myosin, heavy chain 7, cardiac muscle, beta | MYH7 mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy Study on the correlation of mutations in MYH7 gene and hypertrophic cardiomyopathy Title:Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.|Association:Not Found|Conclusion:Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by beta -MHC mutations. Although Ea velocity alone was not sufficiently sensitive as a sole diagnostic criterion, the combination of Ea velocity and EF was highly predictive of affected genotype in individuals without overt manifestations of HCM. Left ventricular end systolic diameter increased and ejection fraction reduction was noted in the majority of R403W(MYH7)mutations in progression to hypertrophic cardiomyopathy | | Human | GADD45B | 4616 | growth arrest and DNA-damage-inducible, beta | Haplotype (rs2024144-rs3783501) of GADD45B affected the thickness of inter-ventricular septum in patients with hypertrophy cardiomyopathy |
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