ORPHA:583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Synonyms: 3-phosphoglycerate dehydrogenase 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 3-phosphoglycerate dehydrogenase deficiency | 3-phosphoglycerate dehydrogenase deficiency, prenatal form |
| fr | Syndrome de Neu-Laxova par déficit en 3-phosphoglycerate déshydrogénase | Déficit en 3-phosphoglycerate déshydrogénase, forme prénatale |
| de | Neu-Laxova-Syndrom durch 3-Phosphoglycerat-Dehydrogenase-Mangel | 3-Phosphoglycerat-Dehydrogenase-Defizienz, pränatale Form |
| es | Síndrome de Neu-Laxova por deficiencia de 3-fosfoglicerato deshidrogenasa | Deficiencia de 3-fosfoglicerato deshidrogenasa, forma prenatal |
| it | Sindrome di Neu-Laxova da deficit di 3-fosfoglicerato deidrogenasi | Deficit di 3-fosfoglicerato deidrogenasi, forma prenatale |
| nl | Syndroom van Neu-laxova door deficiëntie van 3-fosfoglyceraatdehydrogenase | Deficiëntie van 3-fosfoglyceraatdehydrogenase, prenatale vorm |
| pt | Síndrome Neu-Laxova por deficiência de 3-fosfoglicerato desidrogenase | Deficiência de 3-fosfoglicerato desidrogenase, forma pré-natal |
| pl | Zespół Neu'a i Laxovy z powodu deficytu dehydrogenazy 3-fosfoglicerylowej | Zespół Neu i Laxova spowodowany niedoborem dehydrogenazy 3-fosfoglicerynianowej |
| cs | Syndrom Neu-Laxové způsobený deficitem 3-fosfoglycerát dehydrogenázy | = en |
| uk | Синдром Ноя-Лаксова, зумовлений дефіцитом 3-фосфогліцератдегідрогенази | Дефіцит 3-фосфогліцератдегідрогенази, пренатальна форма |
| zh | 3-磷酸甘油酯脱氢酶缺乏所致Neu-laxova综合征 | 产前型3-磷酸甘油酯脱氢酶缺乏症 |
| tr | 3-fosfogliserat dehidrojenaz eksikliğine bağlı Neu-laxova sendromu | 3-fosfogliserat dehidrojenaz eksikliği, doğum öncesi formu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256520 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | attributed | validated |
| MONDO | 0009736 | E | validated | |
| UMLS | C5680336 | 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 |
|---|---|---|---|---|---|---|---|---|
| PHGDH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8923 | ENSG00000092621 | 606879 | 1p12 | phosphoglycerate dehydrogenase | 24836451[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/583607
- This record as JSON: /data/d/583607.json