ORPHA:79351
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Synonyms: PHGDH deficiency, infantile/juvenile form
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | PHGDH deficiency, infantile/juvenile form |
| fr | Déficit en 3-phosphoglycerate déshydrogénase, forme infantile/juvénile | Déficit en PHGDH, forme infantile/juvénile |
| de | 3-Phosphoglycerat-Dehydrogenase-Mangel, infantile/juvenile Form | PHGDH-Defizienz, infantile/juvenile Form |
| es | Deficiencia de 3-fosfoglicerato deshidrogenasa forma infantil/juvenil | Deficiencia de PHGDH, forma infantil/juvenil |
| it | Deficit di 3-fosfoglicerato deidrogenasi, forma infantile/giovanile | |
| nl | Deficiëntie van 3-fosfoglyceraatdehydrogenase, infantiele/juveniele vorm | PHGDH-deficiëntie, infantiele/juveniele vorm |
| pt | Deficiência de 3-fosfoglicerato desidrogenase, forma da infância/juvenil | |
| pl | Niedobór dehydrogenazy 3-fosfogliceryny, postać dziecięca/młodzieńcza | = en |
| cs | Deficit 3-fosfoglycerát dehydrogenázy, infantilní/juvenilní forma | = en |
| uk | Дефіцит 3-фосфогліцератдегідрогенази, інфантильна/ювенільна форма | Дефіцит PHGDH, інфантильна/ювенільна форма |
| zh | 3-磷酸甘油酸脱氢酶缺陷症，婴儿/青少年型 | PHGDH缺乏症，婴儿/青少年型 |
| tr | 3-fosfogliserat dehidrojenaz eksikliği, infantil / jüvenil formu | PHGDH eksikliği, infantil/jüvenil formu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601815 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.6 | NTBT | attributed | validated |
| MONDO | 0011152 | E | validated | |
| UMLS | C5680205 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:422519OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHGDH | Disease-causing germline mutation(s) in | Assessed | HGNC:8923 | ENSG00000092621 | 606879 | 1p12 | phosphoglycerate dehydrogenase | 11055895[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 23564319[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23564319[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.
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HPO phenotypes
46 annotations · validated 2019-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012277 | Hypoglycinemia | |
| HP:0012279 | Hyposerinemia | |
| Frequent (79-30%) | ||
| HP:0006808 | Cerebral hypomyelination | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0012448 | Delayed myelination | |
| HP:0007281 | Developmental stagnation | |
| HP:0011097 | Epileptic spasm | |
| HP:0000565 | Esotropia | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0011451 | Primary microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0001999 | Abnormal facial shape | |
| HP:0010719 | Abnormality of hair texture | |
| HP:0001181 | Adducted thumb | |
| HP:0002305 | Athetosis | |
| HP:0010819 | Atonic seizure | |
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000519 | Developmental cataract | |
| HP:0100633 | Esophagitis | |
| HP:0010821 | Focal emotional seizure with laughing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0007503 | Generalized ichthyosis | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001276 | Hypertonia | |
| HP:0000135 | Hypogonadism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0030215 | Inappropriate crying | |
| HP:0000023 | Inguinal hernia | |
| HP:0000737 | Irritability | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001537 | Umbilical hernia | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23463425[PMID]_19963421[PMID]_29269105[PMID]_8758134[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79351
- This record as JSON: /data/d/79351.json