Details of HADH gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: A metabolic disorder with various clinical presentations including hypoglycemia |
myopathy or cardiomyopathy |
Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken |
601609 |
Phenotypes
Abnormal glucose homeostasis, Abnormal muscle tone, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of circulating hormone level, Abnormality of dicarboxylic acid metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the endocrine system, Abnormality of the genitourinary system, Abnormality of the heart, Abnormality of the liver, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Acute hepatic failure, All, Autosomal recessive inheritance, Cardiomyopathy, Cognitive impairment, Coma, Decreased liver function, Dicarboxylic aciduria, Dilated cardiomyopathy, Diminished movement, Encephalopathy, Fulminant hepatic failure, Growth abnormality, Growth delay, Hepatic failure, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypokinesia, Intellectual disability, Malformation of the heart and great vessels, Mode of inheritance, Muscular hypotonia, Myoglobinuria, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Reduced consciousness/confusion, Seizures, Symptomatic seizures.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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