Phenotype: Hyperammonemia (HP:0001987)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: MMUT
disease_id: ORPHA:289916
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut0
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: MMUT
disease_id: ORPHA:79312
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: HMGCL
disease_id: ORPHA:20
disease_name: 3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
gene_symbol: HMGCL
disease_id: OMIM:246450
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
gene_symbol: IARS1
disease_id: OMIM:617093
disease_name: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: OTC
disease_id: ORPHA:664
disease_name: Ornithine transcarbamylase deficiency
OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
gene_symbol: MTO1
disease_id: OMIM:614702
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: PCCA
disease_id: ORPHA:35
disease_name: Propionic acidemia
Ketotic hyperglycinemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: ORPHA:35
disease_name: Propionic acidemia
Ketotic hyperglycinemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: CPS1
disease_id: ORPHA:147
disease_name: Carbamoyl-phosphate synthetase 1 deficiency
CPS1 deficiency
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency
gene_symbol: CPS1
disease_id: OMIM:237300
disease_name: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: IVD
disease_id: ORPHA:33
disease_name: Isovaleric acidemia
Isovaleric acid CoA dehydrogenase deficiency
gene_symbol: TMEM70
disease_id: ORPHA:1194
disease_name: TMEM70-related mitochondrial encephalo-cardio-myopathy
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: MARS1
disease_id: OMIM:615486
disease_name: INTERSTITIAL LUNG AND LIVER DISEASE
gene_symbol: CPT2
disease_id: OMIM:600649
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: ORPHA:228308
disease_name: Carnitine palmitoyl transferase II deficiency, neonatal form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: HLCS
disease_id: OMIM:253270
disease_name: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
gene_symbol: SLC25A15
disease_id: ORPHA:415
disease_name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: SLC25A13
disease_id: OMIM:603471
disease_name: CITRULLINEMIA, TYPE II, ADULT-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: COX6B1
disease_id: OMIM:619051
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: RINT1
disease_id: OMIM:618641
disease_name: INFANTILE LIVER FAILURE SYNDROME 3
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: OMIM:618120
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: MCCC2
disease_id: OMIM:210210
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
gene_symbol: MCCC2
disease_id: ORPHA:6
disease_name: 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
MCC deficiency
MCCD
gene_symbol: TANGO2
disease_id: ORPHA:480864
disease_name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
TANGO2-related metabolic encephalopathy-arrhythmia syndrome
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: NR1H4
disease_id: OMIM:617049
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: SLC25A42
disease_id: OMIM:618416
disease_name: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
gene_symbol: SERAC1
disease_id: OMIM:614739
disease_name: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
gene_symbol: ACAD9
disease_id: ORPHA:99901
disease_name: Acyl-CoA dehydrogenase 9 deficiency
ACAD9 deficiency
gene_symbol: SLC25A36
disease_id: OMIM:620211
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: SLC25A20
disease_id: ORPHA:159
disease_name: Carnitine-acylcarnitine translocase deficiency
CACT deficiency
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
gene_symbol: ARG1
disease_id: ORPHA:90
disease_name: Argininemia
Arginase deficiency
Hyperargininemia
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
gene_symbol: HSD17B10
disease_id: ORPHA:391428
disease_name: HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
gene_symbol: NBAS
disease_id: OMIM:616483
disease_name: INFANTILE LIVER FAILURE SYNDROME 2
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: NAGS
disease_id: OMIM:237310
disease_name: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
gene_symbol: UQCRC2
disease_id: OMIM:615160
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: PDHB
disease_id: OMIM:614111
disease_name: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
gene_symbol: ALG11
disease_id: OMIM:613661
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
gene_symbol: HADH
disease_id: ORPHA:71212
disease_name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: PCK1
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: PCK2
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: TUFM
disease_id: OMIM:610678
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
gene_symbol: HADHA
disease_id: OMIM:609015
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: ACAT1
disease_id: ORPHA:134
disease_name: Beta-ketothiolase deficiency
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
gene_symbol: ACADM
disease_id: ORPHA:42
disease_name: Medium chain acyl-CoA dehydrogenase deficiency
ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: CPT1A
disease_id: OMIM:255120
disease_name: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
gene_symbol: GOT2
disease_id: OMIM:618721
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82
gene_symbol: MRM2
disease_id: OMIM:618567
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 17
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: EIF2AK3
disease_id: ORPHA:1667
disease_name: Wolcott-Rallison syndrome
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
gene_symbol: MCCC1
disease_id: ORPHA:6
disease_name: 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
MCC deficiency
MCCD
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: UQCRH
disease_id: OMIM:620137
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: SLC22A5
disease_id: OMIM:212140
disease_name: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: GLUD1
disease_id: ORPHA:35878
disease_name: Hyperinsulinism-hyperammonemia syndrome
HI/HA syndrome
gene_symbol: GLUD1
disease_id: OMIM:606762
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6