ORPHA:664
Ornithine transcarbamylase deficiency
Synonyms: OCT deficiency · OTC deficiency · Ornithine carbamoyltransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ornithine transcarbamylase deficiency | OCT deficiency · OTC deficiency · Ornithine carbamoyltransferase deficiency |
| fr | Déficit en ornithine transcarbamylase | Déficit en OCT · Déficit en OTC · Déficit en ornithine carbamoyltransférase |
| de | Ornithin-Transcarbamylase-Mangel | OTC-Mangel · Ornithin-Carbamoyltransferase-Mangel |
| es | Deficiencia de ornitina transcarbamilasa | Deficiencia de OCT · Deficiencia de OTC · Deficiencia de ornitina carbamil transferasa |
| it | Deficit di ornitina transcarbamilasi | Deficit di OCT · Deficit di OTC · Deficit di ornitina carbamoiltransferasi |
| nl | Ornithinetranscarbamylasedeficiëntie | OCT-deficiëntie · OTC-deficiëntie · Ornithine-carbamoyltransferasedeficiëntie |
| pt | Deficiência de ornitina carbamoiltransferase | Deficiência de OCT |
| pl | Niedobór transkarbamylazy ornityny | Niedobór karbamylotransferazy ornityny · Niedobór OCT · Niedobór OTC |
| cs | Deficit ornitintranskarbamylázy | OTC deficit · Deficit OTC · Deficit ornitin karbamoyltransferázy |
| uk | Дефіцит орнітинтранскарбамілази | Дефіцит OCT · Дефіцит орнітинкарбамоїлтрансферази · Дефіцит OTC |
| zh | 鸟氨酸氨甲酰转移酶缺乏症 | 鸟氨酸氨基甲酰转移酶缺乏症 |
| tr | Ornitin transkarbamilaz eksikliği | OCT eksikliği · OTC eksikliği · Ornitin karbamoiltransferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311250 | E | validated | |
| ICD-10 | E72.4 | NTBT | inclusion | validated |
| ICD-11 | 5C50.AY | NTBT | index | validated |
| MONDO | 0010703 | E | validated | |
| MeSH | D020163 | E | validated | |
| UMLS | C0268542 | E | validated | |
| GARD | 8391 | E | validated | |
| MedDRA | 10052450 | 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 (3):
- ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OTC | Disease-causing germline mutation(s) in | Assessed | HGNC:8512 | ENSG00000036473 | 300461 | Xp11.4 | ornithine transcarbamylase | 24006547[PMID] |
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Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.29 / 100 000 | Australia | Value and class | Validated | 15050980[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Finland | Value and class | Validated | 18616627[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.88 / 100 000 | Canada | Value and class | Validated | 12788994[PMID]_10617747[PMID]_ORPHANET_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.77 / 100 000 | United States | Value and class | Validated | 23972786[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.77 / 100 000 | Worldwide | Value and class | Validated | 23972786[PMID]_[EXPERT] |
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
29 annotations · validated 2024-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0001399 | Hepatic failure | |
| HP:0001987 | Hyperammonemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0002039 | Anorexia | |
| HP:0001259 | Coma | |
| HP:0002329 | Drowsiness | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001298 | Encephalopathy | |
| HP:0005961 | Hypoargininemia | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0001254 | Lethargy | |
| HP:0003572 | Low plasma citrulline | |
| HP:0003218 | Oroticaciduria | |
| HP:0002033 | Poor suck | |
| HP:0002038 | Protein avoidance | |
| HP:0001950 | Respiratory alkalosis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0031258 | Delirium | |
| HP:0000716 | Depression | |
| HP:0002572 | Episodic vomiting | |
| HP:0001508 | Failure to thrive | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 11124797[PMID]_24006547[PMID]_PNDS 2021[OTHER]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/664
- This record as JSON: /data/d/664.json