Serine biosynthesis pathway deficiency, infantile/juvenile form
- Type
- Disease
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Serine biosynthesis pathway deficiency, infantile/juvenile form | |
| fr | Déficit de la voie de biosynthèse de la sérine, forme infantile/juvénile | |
| de | Serinbiosynthese-Signalweg-Defizienz, infantile/juvenile Form | |
| es | Deficiencia de la vía de biosíntesis de serina, forma infantil/juvenil | |
| it | Deficit della via di biosintesi della serina, forma infantile/giovanile | |
| nl | Deficiëntie van reactiepad voor biosynthese van serine, infantiele/juveniele vorm | |
| pt | Deficiência da via de biossíntese da serina, forma infantil/juvenil | |
| pl | Niedobór szlaku biosyntezy seryny, postać niemowlęca/młodzieńcza | |
| cs | Deficit biosyntézy serinu, infantilní/juvenilní forma | |
| uk | Дефіцит шляху біосинтезу серину, інфантильна/ювенільна форма | |
| zh | 丝氨酸生物合成途径缺乏，婴儿/青少年型 | |
| tr | Serin biyosentez yolu eksikliği, infantil/jüvenil formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601815 | BTNT | validated | |
| OMIM | 610992 | BTNT | validated | |
| OMIM | 614023 | BTNT | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.6 | NTBT | attributed | validated |
| MONDO | 0035004 | E | validated | |
| UMLS | C5681678 | 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:35705Neurometabolic disorder due to serine deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PHGDH | ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | Disease-causing germline mutation(s) in | Assessed | HGNC:8923 | ENSG00000092621 | 606879 | 1p12 | phosphoglycerate dehydrogenase | 11055895[PMID] |
| PSAT1 | ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form | Disease-causing germline mutation(s) in | Assessed | HGNC:19129 | ENSG00000135069 | 610936 | 9q21.2 | phosphoserine aminotransferase 1 | 17436247[PMID] |
| PSPH | ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile form | Disease-causing germline mutation(s) in | Assessed | HGNC:9577 | ENSG00000146733 | 172480 | 7p11.2 | phosphoserine phosphatase | 14673469[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8758134[PMID]_26960553[PMID]_28135894[PMID]_36308023[PMID]_26610677[PMID]_17436247[PMID]_29269105[PMID]_34089226[PMID]_26610677[PMID]_9222972[PMID]_25080166[PMID]_ORPHANET |
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 8758134[PMID]_26960553[PMID]_28135894[PMID]_36308023[PMID]_26610677[PMID]_17436247[PMID]_29269105[PMID]_34089226[PMID]_26610677[PMID]_9222972[PMID]_25080166[PMID] |
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/583595
- This record as JSON: /data/d/583595.json