Mitochondria Phenome Knowledgebase

Gene Symbol HADHB
Ensembl ID ENSG00000138029 Entrez 3032
Gene Alias MGC87480; MSTP029; TP-BETA Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 2p23 Subcell PMIDs 1550553 15229654
OMIM Gene 143450 Protein Complex Mitochondrial trifunctional protein complex
Swissprot ID P55084 Swissprot Description Trifunctional enzyme beta subunit, mitochondrial precursor
OMIM Disease Trifunctional protein deficiency (MTPD) [609015]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
HADHB 609015 Musculoskeletal-diseases musculoskeletal #9259266 #9305349 #12548384 #12754706 #15617873 #15902556 #16423905
HADHB 609015 Muscular-diseases skeletal myopathy; myopathy; cytoplasmic fatty infiltrations musculoskeletal 9259266 #9305349 12548384 12754706 15617873 15902556 16423905
HADHB 609015 Rhabdomyolysis episodes musculoskeletal 15617873 15902556
HADHB 609015 Myoglobinuria recurrent; progressive musculoskeletal 9305349 12754706
HADHB 609015 Digestive-system-diseases gastrointestinal #9259266 #12548384 #12754706 #15243991 #15617873 #15902556 #16423905
HADHB 609015 Gastrointestinal-diseases gastrointestinal #15617873
HADHB 609015 Intestinal-obstruction intestinal pseudo obstruction; constipation; abdominal distention; dilated loops of small and large intestine gastrointestinal 15617873
HADHB 609015 Liver-diseases hepatic failure gastrointestinal 9259266 #12548384 15902556 #16423905
HADHB 609015 Fatty-liver hepatic steatosis; hepatic fatty infiltration gastrointestinal 12548384
HADHB 609015 Liver-enzymes-abnormal transaminases elevated; mildly elevated gastrointestinal 16423905
HADHB 609015 Abdominal-pain abdominal distension; lower abdominal pain gastrointestinal 15617873
HADHB 609015 Feeding-difficulties feeding impaired gastrointestinal 12754706 15243991 16423905
HADHB 609015 Vomiting episodes gastrointestinal 15617873
HADHB 609015 Respiratory-tract-diseases respiratory #12548384 #12754706 #15902556 #16423905
HADHB 609015 Lung-diseases respiratory #16423905
HADHB 609015 Pneumonia bronchopneumonia; pneumonia suspected based on radiologic examination respiratory 16423905
HADHB 609015 Pulmonary-edema hyaline membrane disease respiratory 16423905
HADHB 609015 Respiration-disorders respiratory #12548384 #12754706 #15902556 #16423905
HADHB 609015 Hyperventilation tachypnea respiratory 16423905
HADHB 609015 Respiratory-insufficiency respiratory distress; acute respiratory distress; bronchiolitis; dyspnea; hypoventilation; shortness of breath respiratory 12548384 12754706 15902556 16423905
HADHB 609015 Nervous-system-diseases neurologic #9259266 #12548384 #12754706 #15617873 #15902556 #16423905
HADHB 609015 Central-nervous-system-diseases neurologic #9259266 #15902556
HADHB 609015 Brain-diseases neurologic #9259266 #15902556
HADHB 609015 Encephalopathy hepatic; acute neurologic 9259266 15902556
HADHB 609015 Axonal-degeneration biopsie finding; axonal degeneration; myelin degeneration neurologic 12754706
HADHB 609015 Neurologic-manifestations neurologic #12548384 #12754706 #15617873 #15902556 #16423905
HADHB 609015 Ataxia mils; ataxic neurologic 15902556
HADHB 609015 Gait-disorders frequent falling neurologic 15902556
HADHB 609015 Neurobehavioral-manifestations neurologic #12754706
HADHB 609015 Developmental-delay milestones delayed; infection triggered neurologic 12754706 15902556
HADHB 609015 Lethargy neurologic 12754706
HADHB 609015 Neuromuscular-manifestations neurologic #12548384 #12754706 #15617873 #15902556 #16423905
HADHB 609015 Muscle-hypotonia muscular hypotonia neurologic 12548384 16423905
HADHB 609015 Muscle-weakness lower extremities; diaphragm weakness; skeletal muscle weakness neurologic 12754706 15617873 15902556
HADHB 609015 Muscular-atrophy muscle fiber atrophy; denervating process neurologic 12754706
HADHB 609015 Muscle-aching-and-stiffness muscle pain; episodes neurologic 12754706
HADHB 609015 Peripheral-nervous-system-diseases neurologic #12754706 #15617873 #15902556
HADHB 609015 Polyneuropathies lower extremities; upper extremities; sensorimotor neuropathy; axonopathy; neuropathy neurologic 12754706 15617873 15902556
HADHB 609015 Eye-diseases ophthalmologic #15902556
HADHB 609015 Retinal-diseases retinitis pigmentosa; mild ophthalmologic 15902556
HADHB 609015 Genitourinary-diseases genitourinary #12548384 #12754706
HADHB 609015 Female-genital-diseases genitourinary #12548384 #12754706
HADHB 609015 Pregnancy-complications hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; hydrothoraces; hydrops generalisatus genitourinary 12548384 12754706
HADHB 609015 Cardiovascular-diseases cardiovascular #9259266 #10577999 #12548384 #12754706 #15243991 #15902556 #16423905
HADHB 609015 Heart-diseases cardiovascular #9259266 #10577999 #12548384 #12754706 #15243991 #15902556 #16423905
HADHB 609015 Arrhythmia conduction impairment; atrial tachycardias cardiovascular 10577999
HADHB 609015 Cardiomyopathy hypertrophic; myocardial hypertrophy; dilated; myocardial fibrosis; ventricular hypertrophy cardiovascular 9259266 12548384 12754706 15243991 15902556 16423905
HADHB 609015 Cardiorespiratory-arrest sudden infant death; cardiorespiratory failure; neonatal form cardiovascular 9259266 12548384 12754706 15243991 16423905
HADHB 609015 Metabolic-diseases metabolic #9305349 #11855930 #12548384 #12754706 #12838198 #15243991 #15617873 #15902556 #16423905
HADHB 609015 Acid-base-imbalance metabolic #9305349 #12548384 #12754706 #12838198 #16423905
HADHB 609015 Acidosis lactic acidosis; metabolic acidosis metabolic 12548384 12754706 16423905
HADHB 609015 Hypoketosis hypoketotic hypoglycemia; deficient fasting ketogenesis metabolic 9305349 12548384 12754706 12838198 16423905
HADHB 609015 Metabolic-brain-diseases metabolic #12754706 #15243991 #16423905
HADHB 609015 Reye-like-symptoms reye syndrome like metabolic 12754706 15243991 16423905
HADHB 609015 Glucose-metabolism-disorders metabolic #12548384 #12754706 #15243991 #15617873
HADHB 609015 Hypoglycemia recurrent; infantile; hypoketotic hypoglycemia; hypoglycaemia metabolic 12548384 12754706 15243991 15617873
HADHB 609015 Acylcarnitine-profile-abnormal plasma; blood spots; elevated 3 hydroxy acylcarnitines; elevated 3 hydroxy C16:0 C16:1 C18:1 C18:2 acylcarnitines; elevated tetradecenoylcarnitine; elevated hexadecenoylcarnitine metabolic 11855930 12548384 12838198 15243991 15902556 16423905
HADHB 609015 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 9305349
HADHB 609015 Organic-acids-abnormal lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria metabolic 9305349 12838198 15902556 16423905
HADHB 609015 Dicarboxylic-aciduria dicarboxylic acids elevated metabolic 9305349 12838198 15902556 16423905
HADHB 609015 Immune-system-diseases immunologic #12548384 #12754706 #15902556
HADHB 609015 Infections recurrent; intercurrent; viral infections; respiratory tract infections immunologic 12548384 12754706 15902556
HADHB 609015 Edema generalized edema; severe miscellaneous 16423905
HADHB 609015 Exercise-intolerance fatigue; stair climbing abnormal; standing up abnormal miscellaneous 12754706 15902556
HADHB 609015 Growth-disorders miscellaneous #15617873
HADHB 609015 Failure-to-thrive miscellaneous 15617873
HADHB 609015 Mitochondria-abnormal subsarcolemmal accumulation of mitochondria miscellaneous 15902556
HADHB 609015 Creatine-kinase-abnormal elevated miscellaneous 12548384 12754706

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