PHGDH deficiency
- Synonyms
- Phosphoglycerate dehydrogenase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Saskia N van der Crabben
- Tom J de Koning
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (59 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Megaloblastic anemia
Megaloblastic anemia
- MedGen UID: 1527
- Concept ID: C0002888
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Megaloblastic anemia
- Abnormality of limbs
- Thumbs, congenital Clasped
Thumbs, congenital Clasped
- MedGen UID: 98140
- Concept ID: C0431886
- Finding: Congenital Abnormality
Abnormality of limbs
- Thumbs, congenital Clasped
- Abnormality of metabolism/homeostasis
- Reduced 3-phosphoglycerate dehydrogenase activity
Reduced 3-phosphoglycerate dehydrogenase activity
- MedGen UID: 1841981
- Concept ID: C5826593
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced 3-phosphoglycerate dehydrogenase activity
- Abnormality of the eye
- Developmental cataract
Developmental cataract
- MedGen UID: 3202
- Concept ID: C0009691
- Finding: Congenital Abnormality
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Developmental cataract
- Abnormality of the genitourinary system
- Decreased testicular size
Decreased testicular size
- MedGen UID: 66027
- Concept ID: C0241355
- Finding: Finding
Abnormality of the genitourinary system
- Decreased testicular size
- Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Primary microcephaly
Primary microcephaly
- MedGen UID: 383046
- Concept ID: C2677180
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
- Abnormality of the nervous system
- Cerebral dysmyelination
Cerebral dysmyelination
- MedGen UID: 343222
- Concept ID: C1854885
- Finding: Finding
Abnormality of the nervous system
- Hypsarrhythmia
Hypsarrhythmia
- MedGen UID: 195766
- Concept ID: C0684276
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic tetraplegia
Spastic tetraplegia
- MedGen UID: 98433
- Concept ID: C0426970
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral dysmyelination
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
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