ORPHA:247573
Late-onset citrullinemia type I
Synonyms: Late-onset citrullinemia type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset citrullinemia type I | Late-onset citrullinemia type 1 |
| fr | Citrullinémie type I tardive | Citrullinémie type 1 tardive |
| de | Zitrullinämie Typ I, spät-beginnende | Citrullinämie Typ 1, spät-beginnende · Citrullinämie, adulte, Typ I · Zitrullinämie Typ 1, spät-beginnende |
| es | Citrulinemia del adulto tipo I | Citrulinemia del adulto tipo 1 · Citrulinemia tipo 1 de inicio tardío · Citrulinemia tipo I de inicio tardío |
| it | Citrullinemia a esordio tardivo tipo I | Citrullinemia a esordio nell'età adulta, tipo 1 · Citrullinemia a esordio tardivo tipo 1 · Citrullinemia a esordio tardivo, tipo 1 · Citrullinemia a esordio tardivo, tipo I |
| nl | Laat optredende citrullinemie type I | Laat optredende citrullinemie type 1 |
| pt | Late-onset citrullinemia type I | Citrulinémia tipo 1 de início tardio |
| pl | Citrulinemia typu I o poczatku w wieku dorosłym | Citrulinemia typu 1 o poczatku w wieku dorosłym · Citrulinemia typu 1 o późnym początku · Citrulinemia typu I o późnym poczatku |
| cs | Citrulinémie s nástupem v dospělosti, typ I | Citrulinémie s pozdním nástupem, typ 1 · Citrulinémie s pozdním nástupem, typ I · Citrulinémie s nástupem v dospělosti, typ 1 |
| uk | Пізня цитрулінемія I типу з пізнім початком | Пізня цитрулінемія типу 1 |
| zh | 成人起病瓜氨酸血症I型 | 成人起病瓜氨酸血症1型 |
| tr | Yetişkin başlangıçlı sitrülinemi tip I | Geç-başlangıçlı sitrülinemi tip 1 · Geç-başlangıçlı sitrülinemi tip I · Erişkin-başlangıçlı sitrülinemi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215700 | NTBT | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| MONDO | 0016601 | E | validated | |
| UMLS | C0268546 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:247525Citrullinemia type I
rare inborn errors of metabolism; rare genetic diseases
No children.
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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] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247573
- This record as JSON: /data/d/247573.json