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CMH1
MCID: CRD086
MIFTS: 65
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Cardiomyopathy, Familial Hypertrophic, 1 (CMH1)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:
Characteristics:OMIM:57
Inheritance:
autosomal dominant digenic (see miscellaneous)
Miscellaneous:
digenic form caused by heterozygous mutations in the mylk2 and myh7 genes HPO:32
cardiomyopathy, familial hypertrophic, 1:
Mortality/Aging sudden death Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases |
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NIH Rare Diseases
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53
Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).
MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 1, also known as asymmetric septal hypertrophy, is related to cardiomyopathy, familial hypertrophic, 4 and myopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are PAK Pathway and Allograft rejection. Affiliated tissues include heart, bone and kidney, and related phenotypes are abnormality of metabolism/homeostasis and arrhythmia Disease Ontology : 12 A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has material basis in autosomal dominant inheritance of one or more gene mutations. Genetics Home Reference : 25 Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life. OMIM : 57 Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. (192600) UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic: 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. Wikipedia : 76 Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:192600Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:32
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Cochrane evidence based reviews: cardiomyopathy, hypertrophic, familial |
MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 1:41
Heart,
Bone,
Kidney,
Liver,
B Cells,
Myeloid,
Bone Marrow
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Articles related to Cardiomyopathy, Familial Hypertrophic, 1:(show top 50) (show all 102)
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Genes related to Cardiomyopathy, Familial Hypertrophic, 1 (6 elite genes):(show all 28) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:75 (show top 50) (show all 174)
ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:6 (show top 50) (show all 441)
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Search
GEO
for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 1.
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Pathways related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:(show all 28)
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Cellular components related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:(show all 27)
Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:(show all 19)
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