Hyperammonemia

Symptom Information:

Symptom ID: HPO:0001987
Synonyms:
Hyperammonemia (disorder) [Orphanet:49100]
Hyperammonemia [Orphanet:49100]
Hyperammonemia [OMIM:Hyperammonemia]
Hyperammonaemia [Orphanet:49100]
Hyperammonaemia [MedDRA:10020575]
Hyperammonemia [MedDRA:10020575]
elevated ammonia level [IBIS,cm]
Quality:
Cross references:
Orphanet:49100 "Hyperammonemia" [Orphanet:49100]
OMIM: "Hyperammonemia" [OMIM:Hyperammonemia]
UMLS:C0220994 "Hyperammonemia" [Orphanet:49100]
Is a (Direct Parents):
MedDRA Protein metabolism disorders NEC
HPO         Azotemia
Orphanet Abnormality of metabolism/homeostasis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of nitrogen compound homeostasis(HPO:0004364)
             Azotemia(HPO:0002157)
                Hyperammonemia(HPO:0001987)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Protein metabolism disorders NEC(MedDRA:10037009)
          Hyperammonemia(HPO:0001987)
Database Frequency: 50 / 7739
Resource:

All diseases associated with this symptom:

3-hydroxy-3-methylglutaric aciduria (Orphanet:20)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Biotinidase deficiency (Orphanet:79241)
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305)
Carnitine uptake deficiency (Orphanet:158)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Citrullinemia type I (Orphanet:247525)
Citrullinemia type II (Orphanet:247585)
Combined oxidative phosphorylation defect type 4 (Orphanet:254925)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Gaucher disease type 2 (Orphanet:77260)
HYPERLYSINURIA WITH HYPERAMMONEMIA (OMIM:238750)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Hurler syndrome (Orphanet:93473)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Hyperinsulinism-hyperammonemia syndrome (Orphanet:35878)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated ATP synthase deficiency (Orphanet:254913)
Lysinuric protein intolerance (Orphanet:470)
MEGDEL syndrome (Orphanet:352328)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 (OMIM:615160)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615453)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Ornithine transcarbamylase deficiency (Orphanet:664)
PATENT DUCTUS VENOSUS (OMIM:601466)
Propionic acidemia (Orphanet:35)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase E1-beta deficiency (Orphanet:255138)
SPLENOPORTAL VASCULAR ANOMALIES (OMIM:271500)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)