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3-phosphoglycerate dehydrogenase deficiency
1 OMIM reference -
1 associated gene
40 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Fibronectin glomerulopathy
Retinitis pigmentosa
17q11 microdeletion syndrome
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Behavioral variant of frontotemporal dementia
CLN3 disease
CLN5 disease
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Early-onset myopathy with fatal cardiomyopathy
Estrogen resistance syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Frontotemporal dementia with motor neuron disease
Giant cell glioblastoma
Gliosarcoma
Hereditary proximal myopathy with early respiratory failure
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Tibial muscular dystrophy
Weaver syndrome
Well-differentiated liposarcoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Chronic mucocutaneous candidiasis
Extraskeletal Ewing sarcoma
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Susceptibility to viral and mycobacterial infections
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PHGDH O43175606879
No signs/symptoms info available.