ORPHA:147
Carbamoyl-phosphate synthetase 1 deficiency
Synonyms: CPS1 deficiency · CPS1D · Carbamoyl-phosphate synthetase I deficiency · Carbamoyl-phosphate synthetase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carbamoyl-phosphate synthetase 1 deficiency | CPS1 deficiency · CPS1D · Carbamoyl-phosphate synthetase I deficiency · Carbamoyl-phosphate synthetase deficiency |
| fr | Déficit en carbamoyl-phosphate synthétase 1 | CPS1D · Déficit en CPS1 · Déficit en carbamoyl-phosphate synthétase · Déficit en carbamoyl-phosphate synthétase I |
| de | Carbamoyl-Phosphat-Synthetase 1-Mangel | CPS1-Mangel · CPS1D |
| es | Deficiencia de carbamoil-fosfato sintetasa 1 | CPS1D · Deficiencia de CPS1 · Deficiencia de carbamoil-fosfato sintetasa · Deficiencia de carbamoil-fosfato sintetasa I |
| it | Deficit di carbamil-fosfato sintetasi 1 | CPS1D · Deficit di CPS1 · Deficit di carbamil-fosfato sintetasi I · Deficit di carbamoil-fosfato sintasi 1 · Deficit di carbamoil-fosfato sintetasi · Deficit di carbamoil-fosfato sintetasi 1 |
| nl | Deficiëntie van carbamoylfosfaatsynthetase 1 | CPS-deficiëntie · CPS1-deficiëntie · CPS1D · Deficiëntie van carbamoylfosfaatsynthase · Deficiëntie van carbamoylfosfaatsynthetase · Deficiëntie van carbamoylfosfaatsynthetase I · Hyperammoniëmie door CPS-deficiëntie |
| pt | Deficiência de carbamoil-fosfato sintetase 1 | CPS1D · Deficiência de CPS1 · Deficiência de carbamoil-fosfato sintetase · Deficiência de carbamoil-fosfato sintetase I |
| pl | Niedobór syntetazy karbamoilofosforanowej I | CPS1D · Niedobór CPS1 · Niedobór syntetazy karbamoilofosforanowej · Niedobór syntetazy karbamoilofosforanowej 1 |
| cs | Deficit karbamoylfosfátsyntetázy 1 | Deficit CPS1 · CPS1D · Deficit karbamoylfosfátsyntetázy I · Deficit karbamoylfosfátsyntetázy |
| uk | Дефіцит карбамоїл-фосфатсинтетази 1 | Дефіцит карбамоїл-фосфатсинтетази · Дефіцит карбамоїл-фосфатсинтетази I · Дефіцит CPS1 · CPS1D |
| zh | 氨甲酰磷酸合成酶Ⅰ缺乏 | 氨甲酰磷酸合成酶缺乏 |
| tr | Karbamoil-fosfat sentetaz 1 eksikliği | CPS1D · CPS1 eksikliği · Karbamoil-fosfat sentetaz eksikliği · Karbamoil-fosfat sentetaz I eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 237300 | E | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.A1 | E | specific | validated |
| MONDO | 0009376 | E | validated | |
| MeSH | D020165 | E | validated | |
| UMLS | C0751753 | E | validated | |
| GARD | 7269 | E | validated | |
| MedDRA | 10058297 | 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:79167Disorder of urea cycle metabolism and ammonia detoxification
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 |
|---|---|---|---|---|---|---|---|---|
| CPS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2323 | ENSG00000021826 | 608307 | 2q34 | carbamoyl-phosphate synthase 1 | 20800523[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 / 100 000 | Finland | Value and class | Validated | 18616627[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | 20142522[PMID]_[EXPERT] |
| Prevalence at birth | <1 / 1 000 000 | 0.077 / 100 000 | United States | Value and class | Validated | 23972786[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.125 / 100 000 | Japan | Value and class | Validated | 2063931[PMID] |
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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0001951 | Episodic ammonia intoxication | |
| HP:0001987 | Hyperammonemia | |
| HP:0005961 | Hypoargininemia | |
| HP:0001252 | Hypotonia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/147
- This record as JSON: /data/d/147.json