PHGDH deficiency
Findings
No curated finding names PHGDH deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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
Definition from the Mondo Disease Ontology (MONDO:0011152), read 2026-09-29. CC BY 4.0.
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypoglycinemiaHPOHP:0012277
- Very frequent (80% to 99% of cases)
- HyposerinemiaHPOHP:0012279
- Very frequent (80% to 99% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Frequent (30% to 79% of cases)
- Cerebral white matter atrophyHPOHP:0012762
- Frequent (30% to 79% of cases)
- Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
- Developmental stagnationHPOHP:0007281
- Frequent (30% to 79% of cases)
- Epileptic spasmHPOHP:0011097
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Show the remaining 33
- Primary microcephalyHPOHP:0011451
- Frequent (30% to 79% of cases)
- Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Abnormal cortical gyrationHPOHP:0002536
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHGDHHGNC:8923
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: PHGDH deficiency
- Also called
- PHOSPHOGLYCERATE dehydrogenase deficiency