loading...| Preferred Name |
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
|
| Synonyms |
NAGSD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/237310 |
|
| altLabel |
NAGSD N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY NAGS DEFICIENCY HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY |
|
| cui |
C0268543 |
|
| Gene Locus |
17q21.31 |
|
| Gene Symbol |
NAGS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU023306 http://purl.bioontology.org/ontology/OMIM/MTHU023304 http://purl.bioontology.org/ontology/OMIM/MTHU001649 http://purl.bioontology.org/ontology/OMIM/MTHU037248 http://purl.bioontology.org/ontology/OMIM/MTHU023301 http://purl.bioontology.org/ontology/OMIM/MTHU005420 http://purl.bioontology.org/ontology/OMIM/MTHU023305 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU023302 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU023303 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
237310 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
|
| Scope Statement |
Patients with null mutations have neonatal onset within 72 hours of birth [MISCELLANEOUS] Variable phenotype depending on residual enzyme activity [MISCELLANEOUS] Early onset patients are indistinguishable from those with carbamoyl phosphate synthetase I (CPS1) deficiency (237300) [MISCELLANEOUS] Patients with residual enzyme activity have childhood or adult onset [MISCELLANEOUS] Caused by mutation in the N-acetylglutamate synthase gene (NAGS, 608300.0001) [MOLECULAR BASIS] Can be effectively treated with N-carbamylglutamate [MISCELLANEOUS] |
|
| tui |
T047 |