3-phosphoglycerate dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PHGDH DEFICIENCY
Number of Symptoms 22
OrphanetNr: 79351
OMIM Id: 601815
ICD-10: E72.8
UMLs: C0580190
MeSH:
MedDRA:
Snomed: 303098002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Neurometabolic disorder due to serine deficiency
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0008734) Decreased testicular size 105 / 7739
2
(HPO:0011451) Congenital microcephaly 6 / 7739
3
(HPO:0000519) Congenital cataract 73 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0001276) Hypertonia 317 / 7739
6
(HPO:0002510) Spastic tetraplegia 54 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0002521) Hypsarrhythmia 43 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0001181) Adducted thumb 31 / 7739
11
(HPO:0001510) Growth delay 295 / 7739
12
(HPO:0001873) Thrombocytopenia 224 / 7739
13
(HPO:0001889) Megaloblastic anemia 28 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Decreased CSF serine 2 / 7739
16
(OMIM) Decreased PHGDH activity (fibroblasts) 1 / 7739
17
(OMIM) Decrease plasma serine (fasting) 2 / 7739
18
(HPO:0007266) Cerebral dysmyelination 13 / 7739
19
(OMIM) Decreased CSF glycine 2 / 7739
20
(MedDRA:10067601) Dysmyelination 5 / 7739
21
(OMIM) Hypsarrhythmia or severe multifocal epileptic abnormalities with poor background activity on EEG 1 / 7739
22
(OMIM) Normal-to-decreased plasma glycine (fasting) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) PHGDH deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.
Clinical Description OMIM Jaeken et al. (1996) described the clinical and biochemical features of 2 Turkish brothers who had a defect in the first enzyme of serine biosynthesis (phosphoglycerate dehydrogenase). The sibs were born from a first-cousin union. The authors noted ...
Molecular genetics OMIM To investigate the molecular basis of PHGDH deficiency, Klomp et al. (2000) characterized the PHGDH mRNA sequence and analyzed it for variations in 6 patients from 4 families with this disorder. Five patients in 3 different families were ...