hmgcl Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (107)

Interactants (382)

XB-GENEPAGE-1002068

Gene Symbol: hmgcl Gene Name: 3-hydroxy-3-methylglutaryl-CoA lyase

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (65 sources): 3-Methylglutaric aciduria, Abnormal cerebral white matter morphology, Acute pancreatitis, Anemia, Anorexia, Apathy, Apnea, Ataxia, Cardiac arrest, Coma, Decreased plasma carnitine, Decreased prothrombin time, Dehydration, Diarrhea, Dilated cardiomyopathy, Dysarthria, EEG abnormality, Edema, Elevated circulating hepatic transaminase concentration, Encephalopathy, Episodic vomiting, Excessive daytime somnolence, Fatigue, Fever, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperuricemia, Hypoglycemia, Hypoglycemic coma, Hyporeflexia, Hypotension, Hypothermia, Hypotonia, Hypsarrhythmia, Increased circulating lactate concentration, Increased level of 3-hydroxy-3-methylglutaric acid in urine, Increased level of hippuric acid in urine, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Jaundice, Ketonuria, Lethargy, Leukocytosis, Leukoencephalopathy, Leukopenia, Lipid accumulation in hepatocytes, Metabolic acidosis, Microcephaly, Myoclonus, Nonketotic hypoglycemia, Organic aciduria, Pallor, Prolonged prothrombin time, Psychomotor retardation, Recurrent hypoglycemia, Reye syndrome-like episodes, Seizure, Spastic hemiparesis, Spasticity, Tachypnea, Thrombocytosis, Vomiting, Weight loss [+]
Mouse (9 sources): abnormal gluconeogenesis, abnormal hepatocyte morphology, abnormal hepatocyte physiology, abnormal placenta morphology, decreased embryo size, embryonic lethality during organogenesis, incomplete penetrance, homeostasis/metabolism phenotype, increased circulating carnitine level, premature death
View all ortholog results at Monarch