Neurometabolic disorder due to serine deficiency
Synonyms: Serine deficiency
- Type
- Category
- Group
- Group of disorders
- Age of onset
- Infancy, Neonatal
- Status
- active
Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurometabolic disorder due to serine deficiency | Serine deficiency |
| fr | Maladie neurométabolique par déficit en sérine | Déficit en sérine |
| de | Neurometabolische Störung durch Serin-Mangel | Serin-Mangelsyndrom |
| es | Trastorno neurometabólico por deficiencia de serina | Deficiencia de serina |
| it | Malattia neurometabolica da deficit di serina | Deficit di serina |
| nl | Neurometabole stoornis door deficiëntie van serine | Deficiëntie van serine |
| pt | Doença neurometabólica por deficiência de serina | Deficiência de serina |
| pl | Zaburzenie neurometaboliczne spowodowane niedoborem seryny | Niedobór seryny |
| cs | Neurometabolická porucha způsobená deficitem serinu | Deficit serinu |
| uk | Порушення нейрометаболізму внаслідок дефіциту серину | Дефіцит серину |
| zh | 丝氨酸缺乏所致神经代谢紊乱 | 丝氨酸缺乏症 |
| tr | Serin eksikliğine bağlı nörometabolik bozukluk | Serin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018162 | E | validated | |
| MONDO | 18162 | E | validated | |
| UMLS | C5680148 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79194Disorder of serine or glycine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35705
- This record as JSON: /data/d/35705.json