ORPHA:583602
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Synonyms: Phosphoserine aminotransferase deficiency, prenatal form
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Neu-Laxova syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency | Phosphoserine aminotransferase deficiency, prenatal form |
| fr | Syndrome de Neu-Laxova par déficit en phosphosérine aminotransférase | Déficit en phosphosérine aminotransférase, forme prénatale |
| de | Neu-Laxova-Syndrom durch Phosphoserin-Aminotransferase-Mangel | Phosphoserin-Aminotransferase-Defizienz, pränatale Form |
| es | Síndrome de Neu-Laxova por deficiencia de fosfoserina aminotransferasa | Deficiencia de fosfoserina aminotransferasa, forma prenatal |
| it | Sindrome di Neu-Laxova da deficit di fosfoserina aminotransferasi | Deficit di fosfoserina aminotransferasi, forma prenatale |
| nl | Syndroom van Neu-laxova door deficiëntie van fosfoserine-aminotransferase | Deficiëntie van fosfoserine-aminotransferase, prenatale vorm |
| pt | Síndrome Neu-Laxova por deficiência de fosfoserina aminotransferase | Deficiência de fosfoserina aminotransferase, forma pré-natal |
| pl | Zespół Neu'a i Laxovy z powodu deficytu aminotransferazy fosfoseryny | Zespół Neu i Laxova spowodowany niedoborem aminotransferazy fosfoserynowej |
| cs | Syndrom Neu-Laxové způsobený deficitem fosfoserinaminotransferázy | = en |
| uk | Синдром Ноя-Лаксова, зумовлений дефіцитом фосфосеринамінотрансферази | Дефіцит фосфосеринамінотрансферази, внутрішньоутробна форма |
| zh | 磷酸丝氨酸氨基转移酶缺乏症所致Neu-laxova综合征 | 产前型磷酸丝氨酸氨基转移酶缺乏症 |
| tr | Fosfoserin aminotransferaz eksikliğine bağlı Neu-laxova sendromu | Fosfoserin aminotransferaz eksikliği, doğum öncesi formu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616038 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | attributed | validated |
| MONDO | 0014466 | E | validated | |
| UMLS | C5680335 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2671Neu-Laxova syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19129 | ENSG00000135069 | 610936 | 9q21.2 | phosphoserine aminotransferase 1 | 25152457[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/583602
- This record as JSON: /data/d/583602.json