ORPHA:247525
Citrullinemia type I
Synonyms: ASS deficiency · Argininosuccinate synthase deficiency · Argininosuccinate synthetase deficiency · Argininosuccinic acid synthase deficiency · Argininosuccinic acid synthetase deficiency · CTLN1 · Citrullinemia type 1 · Classic citrullinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Citrullinemia type I | ASS deficiency · Argininosuccinate synthase deficiency · Argininosuccinate synthetase deficiency · Argininosuccinic acid synthase deficiency · Argininosuccinic acid synthetase deficiency · CTLN1 · Citrullinemia type 1 · Classic citrullinemia |
| fr | Citrullinémie type I | CTLN1 · Citrullinémie classique · Citrullinémie type 1 · Déficit en ASS · Déficit en synthase de l'acide argininosuccinique · Déficit en synthase de l'argininosuccinate · Déficit en synthétase de l'acide argininosuccinique · Déficit en synthétase de l'argininosuccinate |
| de | Zitrullinämie Typ 1 | ASS-Mangel · Argininosuccinat-Synthase-Mangel · CTLN1 · Citrullinämie Typ I · Klassische Zitrullinämie |
| es | Citrulinemia tipo I | CTLN1 · Citrulinemia clásica · Citrulinemia tipo 1 · Deficiencia de ASS · Deficiencia de argininosuccinato sintasa · Deficiencia de argininosuccinato sintetasa · Deficiencia de ácido argininosuccínico sintasa · Deficiencia de ácido argininosuccínico sintetasa |
| it | Citrullinemia, tipo I | CTLN1 · Citrullinemia classica · Citrullinemia, tipo 1 · Deficit di ASS · Deficit di acido argininosuccinico sintasi · Deficit di acido argininosuccinico sintetasi · Deficit di argininosuccinato sintasi · Deficit di argininosuccinato sintetasi |
| nl | Citrullinemie type I | ASS-deficiëntie · CTLN1 · Citrullinemie type 1 · Deficiëntie van argininobarnsteenzuursynthase · Deficiëntie van argininobarnsteenzuursynthetase · Deficiëntie van argininosuccinaatsynthase · Deficiëntie van argininosuccinaatsynthetase · Klassieke citrullinemie |
| pt | Citrulinémia, tipo I | |
| pl | Citrulinemia typu I | Citrulinemia klasyczna · Citrulinemia typu 1 · CTLN1 · Niedobór ASS · Niedobór syntazy argininobursztynianu · Niedobór syntazy kwasu argininobursztynowego · Niedobór syntetazy argininobursztynianu · Niedobór syntetazy kwasu argininobursztynowego |
| cs | Citrulinémie, typ I | ASS deficit · Deficit argininosukcinátsyntetázy · Deficit syntázy kyseliny argininjantarové · Deficit syntetházy kyseliny argininjantarové · CTLN1 · Citrulinémie, typ 1 · Klasická citrulinémie |
| uk | Цитрулінемія, тип I | Дефіцит аргініносукцинатсинтази · Дефіцит аргініносукцинатсинтетази · Дефіцит синтази аргінінобурштинової кислоти · Дефіцит синтетази аргінінобурштинової кислоти · Дефіцит АСС · Цитрулінемія типу 1 · Класична цитрулінемія · CTLN1 |
| zh | 瓜氨酸血症I型 | 精氨酸代琥珀酸合成酶缺乏症 |
| tr | Sitrülinemi tip I | CTLN1 · ASS eksikliği · Sitrülinemi tip 1 · Klasik sitrülinemi · Arjininosükkinat sentaz eksikliği · Arjininosükkinat sentetaz eksikliği · Arjininosüksinik asit sentaz eksikliği · Argininosüksinik asit sentetaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215700 | E | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.A3 | NTBT | index | validated |
| MONDO | 0008988 | E | validated | |
| UMLS | C4721769 | E | validated | |
| GARD | 6114 | E | validated | |
| MedDRA | 10058298 | 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:187Citrullinemia
rare inborn errors of metabolism; rare genetic diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ASS1 | ORPHA:247546Acute neonatal citrullinemia type I | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:758 | ENSG00000130707 | 603470 | 9q34.11 | argininosuccinate synthase 1 | 20301631[PMID] |
| ASS1 | ORPHA:247573Late-onset citrullinemia type I | 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
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.4 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.28 / 100 000 | Austria | Value and class | Validated | 20938748[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | Korea, Republic of | Value and class | Validated | 15906713[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 / 100 000 | Taiwan, Province of China | Value and class | Validated | 20567911[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.13 / 100 000 | United States | Value and class | Not yet validated | ISBN:79130356[OTHER]_15906712[PMID]_ ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2019-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011966 | Elevated plasma citrulline | |
| HP:0001987 | Hyperammonemia | |
| Frequent (79-30%) | ||
| HP:0001399 | Hepatic failure | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001254 | Lethargy | |
| HP:0001950 | Respiratory alkalosis | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0001251 | Ataxia | |
| HP:0001259 | Coma | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002315 | Headache | |
| HP:0001252 | Hypotonia | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007185 | Loss of consciousness | |
| HP:0002076 | Migraine | |
| HP:0000575 | Scotoma | |
| HP:0001350 | Slurred speech | |
| HP:0002789 | Tachypnea | |
| HP:0000473 | Torticollis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30534838[PMID]_29423830[PMID]_28132756[PMID]_30035404[PMID]_20301631[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247525
- This record as JSON: /data/d/247525.json