Mitochondria Phenome Knowledgebase

Gene Symbol MLYCD
Ensembl ID ENSG00000103150 Entrez 23417
Gene Alias MCD; MGC59795 Subcellular Locations Cytoplasm Mitochondria Peroxisome
Map Position 16q24 Subcell PMIDs 4180063 10417274 10455107 12955715
OMIM Gene 606761 Protein Complex
Swissprot ID O95822 Swissprot Description Malonyl-CoA decarboxylase, mitochondrial precursor
OMIM Disease Malonyl CoA decarboxylase deficiency (MLYCD) [248360]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
MLYCD 248360 Musculoskeletal-diseases musculoskeletal #12955715
MLYCD 248360 Craniofacial-abnormalities musculoskeletal #12955715
MLYCD 248360 Macrocephaly progressive musculoskeletal 12955715
MLYCD 248360 Digestive-system-diseases gastrointestinal #3709568 #6145813 #8259873 #9177981 #9869665 #10417274 #12955715 #16275149
MLYCD 248360 Gastrointestinal-diseases gastrointestinal #6145813
MLYCD 248360 Intestinal-obstruction constipation; chronic constipation gastrointestinal 6145813
MLYCD 248360 Liver-diseases gastrointestinal #12955715
MLYCD 248360 Fatty-liver liver fatty infiltration gastrointestinal 12955715
MLYCD 248360 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 12955715
MLYCD 248360 Hepatomegaly gastrointestinal 12955715
MLYCD 248360 Abdominal-pain gastrointestinal 6145813
MLYCD 248360 Feeding-difficulties feeding tube; poor feeding; anorexia; food refusal gastrointestinal 9177981 9869665 12955715 16275149
MLYCD 248360 Diarrhea gastrointestinal 9177981
MLYCD 248360 Vomiting episodes of vomiting; recurrent gastrointestinal 3709568 6145813 8259873 9177981 10417274
MLYCD 248360 Respiratory-tract-diseases respiratory #9177981 #9869665
MLYCD 248360 Respiration-disorders poor respirations respiratory #9177981 9869665
MLYCD 248360 Hyperventilation tachypnea; rapid breathing respiratory 9177981
MLYCD 248360 Nervous-system-diseases neurologic #3709568 #6145813 #7609455 #8259873 #9177981 #9869665 #10417274 #11461195 #11550227 #12955715 #16275149
MLYCD 248360 Central-nervous-system-diseases neurologic #3709568 #7609455 #8259873 #9177981 #10417274 #12955715 #16275149
MLYCD 248360 Brain-diseases neurologic #3709568 #7609455 #8259873 #9177981 #10417274 #12955715 #16275149
MLYCD 248360 Encephalopathy diffuse neurologic 9177981
MLYCD 248360 Cerebrovascular-disorders neurologic #9177981 #12955715
MLYCD 248360 Intracranial-hemorrhages cerebral hemorrhage; cerebral infarction neurologic 9177981 12955715
MLYCD 248360 Seizures convulsions; febrile convulsions; afebrile seizures neurologic 3709568 7609455 8259873 10417274 12955715
MLYCD 248360 Leukoencephalopathy MRI findings; white matter abnormal; white matter signals altered; white matter loss neurologic 12955715 16275149
MLYCD 248360 Cerebral-atrophy generalized; cerebral atrophy neurologic 16275149
MLYCD 248360 Cortical-dysplasia pachygyria cerebral; heterotopia; nodular heterotopia; thickened cortex; cortical malformation neurologic 16275149
MLYCD 248360 Electroencephalogram-abnormal diffuse; irregular activity; sharp waves neurologic 9177981
MLYCD 248360 Neuronal-loss-and-lesions MRI findings; white matter abnormal; white matter loss neurologic 12955715 16275149
MLYCD 248360 Axonal-degeneration chronic axonal degeneration neurologic 12955715
MLYCD 248360 Neurologic-manifestations neurologic #7609455 #9869665 #11550227 #12955715 #16275149
MLYCD 248360 Neurobehavioral-manifestations neurologic #16275149
MLYCD 248360 Developmental-delay psychomotor retardation; neurodevelopment delayed neurologic 3709568 6145813 7609455 8259873 9177981 9869665 10417274 11461195 11550227 12955715 16275149
MLYCD 248360 Irritability irritable neurologic 16275149
MLYCD 248360 Neuromuscular-manifestations neurologic #7609455 #9869665 #11550227 #12955715 #16275149
MLYCD 248360 Muscle-spasticity mild spasticity neurologic 16275149
MLYCD 248360 Muscle-hypotonia generalized neurologic 7609455 9869665 11550227 12955715
MLYCD 248360 Reflexes-abnormal neurologic #12955715
MLYCD 248360 Pyramidal-tract-signs lower extremities neurologic 12955715
MLYCD 248360 Genitourinary-diseases genitourinary #9869665 #12955715
MLYCD 248360 Urogenital-abnormalities genitourinary #12955715
MLYCD 248360 Hypospadias genitourinary 12955715
MLYCD 248360 Urologic-diseases genitourinary #9869665
MLYCD 248360 Kidney-diseases renal dysplasia genitourinary 9869665
MLYCD 248360 Cardiovascular-diseases cardiovascular #7609455 #9177981 #9869665 #10417274 #11461195 #11550227 #12955715
MLYCD 248360 Heart-diseases cardiovascular #7609455 #9177981 #9869665 #10417274 #11461195 #11550227 #12955715
MLYCD 248360 Cardiomyopathy hypertrophic; dilatative; left ventricle dilatation; cardiomegaly; myocardium thickening cardiovascular 7609455 9177981 9869665 10417274 11461195 11550227 12955715
MLYCD 248360 Cardiorespiratory-arrest cardiac arrest; cardiogenic shock; cardiac failure cardiovascular 9177981 9869665 11461195 12955715
MLYCD 248360 Hematologic-diseases hematologic #12955715
MLYCD 248360 Blood-coagulation-disorders prothrombin time prolonged hematologic 12955715
MLYCD 248360 Metabolic-diseases metabolic #3709568 #6145813 #7609455 #8259873 #9177981 #9869665 #10417274 #11461195 #11550227 #12955715 #16275149
MLYCD 248360 Acid-base-imbalance metabolic #3709568 #6145813 #9177981 #10417274 #12955715 #16275149
MLYCD 248360 Acidosis metabolic acidosis; lactic acidosis; blood; CSF metabolic 3709568 6145813 9177981 10417274 12955715 16275149
MLYCD 248360 Glucose-metabolism-disorders metabolic #3709568 #9177981 #10417274 #12955715
MLYCD 248360 Hypoglycemia metabolic 3709568 9177981 10417274 12955715
MLYCD 248360 Hyperammonemia ammonia levels elevated metabolic 16275149
MLYCD 248360 Acylcarnitine-profile-abnormal malonylcarnitine elevated; propionylcarnitin elevated metabolic 7609455 9177981 12955715 16275149
MLYCD 248360 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 7609455 12955715
MLYCD 248360 Fatty-acids-abnormal myristic acids abnormal; palmitic acids abnormal; fatty acids oxidation abnormal; triglyceride levels elevated metabolic 6145813 11461195
MLYCD 248360 Organic-acids-abnormal malonic aciduria; methylmalonic aciduria; fumaric aciduria; 3 hydroxypropionate uria; malate uria; dicarboxylic aciduria; glutaric aciduria; 3 methylglutaconic acids elevated metabolic 3709568 6145813 7609455 8259873 9177981 9869665 10417274 11461195 11550227 12955715 16275149
MLYCD 248360 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 3709568 9177981
MLYCD 248360 Glutaric-aciduria metabolic 3709568 9177981
MLYCD 248360 Methylglutaconic-aciduria 3 methylglutaconic acids elevated metabolic 11461195
MLYCD 248360 Methylmalonic-aciduria methylmalonic acid elevated metabolic 3709568 6145813 7609455 9177981 10417274 11461195 12955715 16275149
MLYCD 248360 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated metabolic 3709568
MLYCD 248360 Splenomegaly hepatosplenomegaly miscellaneous 12955715
MLYCD 248360 Growth-disorders miscellaneous #6145813 #10417274 #12955715 #16275149
MLYCD 248360 Failure-to-thrive miscellaneous 12955715 16275149
MLYCD 248360 Growth-deficiency short stature miscellaneous 6145813 10417274 12955715 16275149
MLYCD 248360 Dysmorphism-and-abnormalities craniofacial dysmorphism; cranial dysmorphism; facial dysmorphism; micropenis; urogenital abnormalities; renal dysplasia miscellaneous 9869665 11461195 12955715
MLYCD 248360 Creatine-kinase-abnormal elevated miscellaneous 12955715
MLYCD 248360 Carnitine-responsive miscellaneous 7609455 12955715

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