Acute neonatal citrullinemia type I
Synonyms: Acute neonatal citrullinemia type 1 · Early-onset citrullinemia type 1 · Early-onset citrullinemia type I
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute neonatal citrullinemia type I | Acute neonatal citrullinemia type 1 · Early-onset citrullinemia type 1 · Early-onset citrullinemia type I |
| fr | Citrullinémie type I néonatale aiguë | Citrullinémie type 1 néonatale aiguë · Citrullinémie type 1 précoce · Citrullinémie type I précoce |
| de | Zitrullinämie Typ I, akute neonatale | Akute neonatale Zitrullinämie Typ 1 · Citrullinämie Typ 1, früh-beginnende · Citrullinämie, akute neonatale, Typ I |
| es | Citrulinemia neonatal aguda tipo 1 | Citrulinemia neonatal aguda tipo I |
| it | Citrullinemia neonatale acuta tipo I | Citrullinemia classica, tipo 1 · Citrullinemia classica, tipo I · Citrullinemia neonatale acuta tipo 1 · Citrullinemia neonatale acuta, tipo 1 |
| nl | Acute neonatale citrullinemie type I | Acute neonatale citrullinemie type 1 · Vroeg optredende citrullinemie type 1 · Vroeg optredende citrullinemie type I |
| pt | Citrulinémia neonatal aguda tipo I | Citrulinémia neonatal aguda tipo 1 · Citrulinémia tipo 1 de início precoce · Citrulinémia tipo I de início precoce |
| pl | Ostra citrulinemia noworodkowa typu i | Citrulinemia klasyczna typu 1 · Citrulinemia klasyczna typu I · Ostra citrulinemia noworodkowa typu 1 · Ostra noworodkowa cytrulinemia typu I |
| cs | Akutní neonatální citrulinémie, typ I | Akutní neonatální citrulinémie, typ 1 · Klasická citrulinémie, typ 1 · Klasická citrulinémie, typ I |
| uk | Гостра неонатальна цитрулінемія, тип I | Гостра неонатальна цитрулінемія типу 1 · Ранній початок цитрулінемії типу 1 · Ранній початок цитрулінемії, тип I |
| zh | 急性新生儿瓜氨酸血症I型 | 急性新生儿瓜氨酸血症1型 |
| tr | Akut Yenidoğan sitrülinemi tip I | Klasik sitrülinemi tip 1 · Klasik sitrülinemi tip I · Akut yenidoğan sitrülinemi tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215700 | NTBT | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.A3 | NTBT | index | validated |
| MONDO | 0016600 | E | validated | |
| UMLS | C5679618 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:247525Citrullinemia type I
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:758 | ENSG00000130707 | 603470 | 9q34.11 | argininosuccinate synthase 1 | 20301631[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247546
- This record as JSON: /data/d/247546.json