Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating nitrogen compound concentration (HP:0004364)help
Parent Node:
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Azotemia (HP:0002157)help
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Hyperammonemia (HP:0001987)help
Term ID: 1987
Name: Hyperammonemia
Synonym: High blood ammonia levels
Definition: An increased concentration of ammonia in the blood.
Comments:
Reference: HP:0001987
Genes and Diseases:
 
       Child Nodes:
........expandAsymptomatic hyperammonemia (HP:0008162) help
........expandAcute hyperammonemia (HP:0008281) help

 Sister Nodes: 
..expandElevated circulating creatinine concentration (HP:0003259) help
..expandHyperuricemia (HP:0002149) help
..expandHypouricemia (HP:0003537) help
..expandIncreased blood urea nitrogen (HP:0003138) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001987HP:0001987Hyperammonemia0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0001987HP:0001987Hyperammonemia0AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0001987HP:0001987Hyperammonemia0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0001987HP:0001987Hyperammonemia0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0001987HP:0001987Hyperammonemia0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare200
HP:0001987HP:0001987Hyperammonemia0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0001987HP:0001987Hyperammonemia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040282 - Frequent91
HP:0001987HP:0001987Hyperammonemia0ARG1 CL E G H383663ORPHA:90ArgininemiaHP:0040282 - Frequent31
HP:0001987HP:0001987Hyperammonemia0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001987HP:0001987Hyperammonemia0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001987HP:0001987Hyperammonemia0ASL CL E G H435746ORPHA:23Argininosuccinic aciduriaHP:0040282 - Frequent81
HP:0001987HP:0001987Hyperammonemia0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001987HP:0001987Hyperammonemia0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0001987HP:0001987Hyperammonemia0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040282 - Frequent223
HP:0001987HP:0001987Hyperammonemia0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001987HP:0001987Hyperammonemia0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency.10
HP:0001987HP:0001987Hyperammonemia0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0001987HP:0001987Hyperammonemia0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0001987HP:0001987Hyperammonemia0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001987HP:0001987Hyperammonemia0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001987HP:0001987Hyperammonemia0CPS1 CL E G H13732323ORPHA:147Carbamoyl-phosphate synthetase 1 deficiencyHP:0040281 - Very frequent124
HP:0001987HP:0001987Hyperammonemia0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001987HP:0001987Hyperammonemia0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0001987HP:0001987Hyperammonemia0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile.101
HP:0001987HP:0001987Hyperammonemia0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0001987HP:0001987Hyperammonemia0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 6.12
HP:0001987HP:0001987Hyperammonemia0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0001987HP:0001987Hyperammonemia0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0001987HP:0001987Hyperammonemia0FOCAD CL E G H5491423377OMIM:6199913
HP:0001987HP:0001987Hyperammonemia0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0001987HP:0001987Hyperammonemia0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0001987HP:0001987Hyperammonemia0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0001987HP:0001987Hyperammonemia0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001987HP:0001987Hyperammonemia0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0001987HP:0001987Hyperammonemia0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0001987HP:0001987Hyperammonemia0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0001987HP:0001987Hyperammonemia0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001987HP:0001987Hyperammonemia0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040282 - Frequent148
HP:0001987HP:0001987Hyperammonemia0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040281 - Very frequent35
HP:0001987HP:0001987Hyperammonemia0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0001987HP:0001987Hyperammonemia0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001987HP:0001987Hyperammonemia0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0001987HP:0001987Hyperammonemia0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0001987HP:0001987Hyperammonemia0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040282 - Frequent81
HP:0001987HP:0001987Hyperammonemia0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0001987HP:0001987Hyperammonemia0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040282 - Frequent77
HP:0001987HP:0001987Hyperammonemia0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0001987HP:0001987Hyperammonemia0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001987HP:0001987Hyperammonemia0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001987HP:0001987Hyperammonemia0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0001987HP:0001987Hyperammonemia0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001987HP:0001987Hyperammonemia0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040281 - Very frequent
HP:0001987HP:0001987Hyperammonemia0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0001987HP:0001987Hyperammonemia0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001987HP:0001987Hyperammonemia0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040281 - Very frequent36
HP:0001987HP:0001987Hyperammonemia0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY.36
HP:0001987HP:0001987Hyperammonemia0NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0001987HP:0001987Hyperammonemia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0001987HP:0001987Hyperammonemia0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0001987HP:0001987Hyperammonemia0OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiencyHP:0040281 - Very frequent369
HP:0001987HP:0001987Hyperammonemia0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0001987HP:0001987Hyperammonemia0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001987HP:0001987Hyperammonemia0PCCA CL E G H50958653ORPHA:35Propionic acidemiaHP:0040281 - Very frequent96
HP:0001987HP:0001987Hyperammonemia0PCCB CL E G H50968654ORPHA:35Propionic acidemiaHP:0040281 - Very frequent92
HP:0001987HP:0001987Hyperammonemia0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001987HP:0001987Hyperammonemia0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0001987HP:0001987Hyperammonemia0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0001987HP:0001987Hyperammonemia0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001987HP:0001987Hyperammonemia0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001987HP:0001987Hyperammonemia0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type II82
HP:0001987HP:0001987Hyperammonemia0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset.82
HP:0001987HP:0001987Hyperammonemia0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0001987HP:0001987Hyperammonemia0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0001987HP:0001987Hyperammonemia0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040281 - Very frequent88
HP:0001987HP:0001987Hyperammonemia0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0001987HP:0001987Hyperammonemia0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0001987HP:0001987Hyperammonemia0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionHP:0040284 - Very rare1
HP:0001987HP:0001987Hyperammonemia0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0001987HP:0001987Hyperammonemia0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001987HP:0001987Hyperammonemia0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0001987HP:0001987Hyperammonemia0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001987HP:0001987Hyperammonemia0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0001987HP:0001987Hyperammonemia0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040281 - Very frequent63
HP:0001987HP:0001987Hyperammonemia0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0001987HP:0001987Hyperammonemia0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0001987HP:0008162Asymptomatic hyperammonemia1GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 6.56
HP:0001987HP:0008162Asymptomatic hyperammonemia1GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040281 - Very frequent56
HP:0001987HP:0008281Acute hyperammonemia1MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001987HP:0008281Acute hyperammonemia1MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001987HP:0008281Acute hyperammonemia1NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0001987HP:0008281Acute hyperammonemia1SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040281 - Very frequent82


Genes (59) :AASS ACAD9 ACADM ACADVL ACAT1 ARG1 ASL ASS1 ATP5F1D BTD CA5A CAD CARS2 COX6B1 CPS1 CPT1A CPT2 CYC1 DLD EIF2AK3 FOCAD GLUD1 GLUL GOT2 HADH HADHA HADHB HLCS HMGCL HSD17B10 MARS1 MCCC1 MCCC2 MECP2 MMAA MMAB MMACHC MMUT MRM2 NAGS NBAS NDUFA6 NR1H4 OTC PCCA PCCB PDHB RINT1 SERAC1 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC25A42 SLC7A7 TANGO2 TMEM70 TUFM UQCRC2

Diseases (81) :ORPHA:2203 ORPHA:3124 ORPHA:99901 ORPHA:42 ORPHA:26793 OMIM:201475 ORPHA:134 ORPHA:90 OMIM:207800 OMIM:207900 ORPHA:23 OMIM:215700 OMIM:618120 ORPHA:79241 OMIM:253260 OMIM:615751 OMIM:616457 OMIM:616672 OMIM:619051 OMIM:237300 ORPHA:147 OMIM:255120 ORPHA:228308 OMIM:600649 OMIM:608836 OMIM:615453 ORPHA:2394 ORPHA:1667 OMIM:619991 OMIM:606762 ORPHA:35878 OMIM:610015 OMIM:618721 ORPHA:71212 OMIM:609015 OMIM:253270 ORPHA:79242 ORPHA:20 OMIM:246450 ORPHA:391428 OMIM:615486 OMIM:210200 ORPHA:6 OMIM:210210 ORPHA:778 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:618567 ORPHA:927 OMIM:237310 OMIM:616483 OMIM:618253 OMIM:617049 ORPHA:664 OMIM:311250 OMIM:606054 ORPHA:35 OMIM:614111 OMIM:618641 OMIM:614739 OMIM:212140 ORPHA:247585 OMIM:603471 ORPHA:247598 OMIM:238970 ORPHA:415 ORPHA:159 OMIM:212138 OMIM:618416 ORPHA:470 OMIM:222700 OMIM:616878 ORPHA:480864 OMIM:614052 ORPHA:1194 OMIM:610678 OMIM:615160
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.