ORPHA:284417
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Synonyms: PSAT deficiency, infantile/juvenile form
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phosphoserine aminotransferase deficiency, infantile/juvenile form | PSAT deficiency, infantile/juvenile form |
| fr | Déficit en phosphosérine aminotransférase, forme infantile/juvénile | Déficit en PSAT, forme infantile/juvénile |
| de | Phosphoserin-Aminotransferase-Mangel, infantile/juvenile Form | PSAT-Defizienz, infantile/juvenile Form · PSAT-Mangel |
| es | Deficiencia de fosfoserina aminotransferasa, forma infantil/juvenil | Deficiencia de PSAT, forma infantil/juvenil |
| it | Deficit di fosfoserina aminotransferasi | Deficit di PSAT |
| nl | Deficiëntie van fosfoserine-aminotransferase, infantiele/juveniele vorm | PSAT-deficiëntie, infantiele/juveniele vorm |
| pt | Deficiência de aminotransferase fosfoserina, forma da infância/juvenil | |
| pl | Niedobór aminotransferazy fosfoseryny | Niedobór PSAT |
| cs | Deficit fosfoserinaminotransferázy | Deficit PSAT |
| uk | Дефіцит фосфосеринамінотрансферази, інфантильна/ювенільна форма | Дефіцит PSAT, інфантильна/ювенільна форма |
| zh | 婴幼儿/青少年型磷酸丝氨酸转氨酶缺乏症 | 婴幼儿/青年型PSAT缺乏症 |
| tr | Fosfoserin aminotransferaz eksikliği, infantil / jüvenil formu | PSAT eksikliği, infantil / jüvenil formu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610992 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| UMLS | C1970253 | E | validated | |
| GARD | 13273 | 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:583595Serine biosynthesis pathway deficiency, infantile/juvenile form
rare inborn errors of metabolism; 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 |
|---|---|---|---|---|---|---|---|---|
| PSAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19129 | ENSG00000135069 | 610936 | 9q21.2 | phosphoserine aminotransferase 1 | 17436247[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
40 annotations · validated 2019-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002154 | Hyperglycinemia | |
| HP:0012279 | Hyposerinemia | |
| HP:0030215 | Inappropriate crying | |
| HP:0011451 | Primary microcephaly | |
| HP:0012736 | Profound global developmental delay | |
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001250 | Seizure | |
| HP:0000474 | Thickened nuchal skin fold | |
| Occasional (29-5%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001363 | Craniosynostosis | |
| HP:0200048 | Cyanotic episode | |
| HP:0012448 | Delayed myelination | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0011196 | EEG with focal sharp waves | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0011097 | Epileptic spasm | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000316 | Hypertelorism | |
| HP:0008064 | Ichthyosis | |
| HP:0006380 | Knee flexion contracture | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0003121 | Limb joint contracture | |
| HP:0001339 | Lissencephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001336 | Myoclonus | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0007704 | Paroxysmal involuntary eye movements | |
| HP:0000470 | Short neck | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0000340 | Sloping forehead | |
| HP:0001285 | Spastic tetraparesis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30122079[PMID]_23463425[PMID]_26960553[PMID]_29269105[PMID]_17436247[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284417
- This record as JSON: /data/d/284417.json