Phosphate transport defect
- Synonyms
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (63 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, PRO0685, SPX4, TRG-19, TRG19, SLC37A4
Summary: solute carrier family 37 member 4
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hyperketonemia
Hyperketonemia
- MedGen UID: 66722
- Concept ID: C0235430
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperlipidemia
Hyperlipidemia
- MedGen UID: 5692
- Concept ID: C0020473
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperuricemia
Hyperuricemia
- MedGen UID: 149260
- Concept ID: C0740394
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Ketosis
Ketosis
- MedGen UID: 7206
- Concept ID: C0022638
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Hyperketonemia
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
Pulmonary arterial hypertension
- MedGen UID: 425404
- Concept ID: C2973725
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the digestive system
- Hepatocellular carcinoma
Hepatocellular carcinoma
- MedGen UID: 389187
- Concept ID: C2239176
- Finding: Neoplastic Process
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Inflammation of the large intestine
Inflammation of the large intestine
- MedGen UID: 662273
- Concept ID: C0578878
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatocellular carcinoma
- Abnormality of the endocrine system
- Delayed puberty
Delayed puberty
- MedGen UID: 46203
- Concept ID: C0034012
- Finding: Pathologic Function
Abnormality of the endocrine system
- Delayed puberty
- Abnormality of the genitourinary system
- Decreased glomerular filtration rate
Decreased glomerular filtration rate
- MedGen UID: 163428
- Concept ID: C0853068
- Finding: Finding
Abnormality of the genitourinary system
- Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis
- MedGen UID: 4904
- Concept ID: C0017668
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hematuria
Hematuria
- MedGen UID: 5488
- Concept ID: C0018965
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Decreased glomerular filtration rate
- Abnormality of the immune system
- Absence of bactericidal oxidative respiratory burst in phagocytes
Absence of bactericidal oxidative respiratory burst in phagocytes
- MedGen UID: 375405
- Concept ID: C1844385
- Finding: Finding
Abnormality of the immune system
- Chronic pancreatitis
Chronic pancreatitis
- MedGen UID: 101753
- Concept ID: C0149521
- Finding: Disease or Syndrome
Abnormality of the immune system
- Cyclical neutropenia
Cyclical neutropenia
- MedGen UID: 65121
- Concept ID: C0221023
- Finding: Disease or Syndrome
Abnormality of the immune system
- Stomatitis
Stomatitis
- MedGen UID: 52511
- Concept ID: C0038362
- Finding: Disease or Syndrome
Abnormality of the immune system
- Absence of bactericidal oxidative respiratory burst in phagocytes
- Abnormality of the integument
- Spider hemangioma
Spider hemangioma
- MedGen UID: 868473
- Concept ID: C4022867
- Finding: Disease or Syndrome
Abnormality of the integument
- Xanthelasma
Xanthelasma
- MedGen UID: 56357
- Concept ID: C0155210
- Finding: Disease or Syndrome
Abnormality of the integument
- Xanthomatosis
Xanthomatosis
- MedGen UID: 21939
- Concept ID: C0043325
- Finding: Disease or Syndrome
Abnormality of the integument
- Spider hemangioma
- Abnormality of the musculoskeletal system
- Gout
Gout
- MedGen UID: 42280
- Concept ID: C0018099
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Gout
- Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
- Neoplasm
- Hepatoblastoma
Hepatoblastoma
- MedGen UID: 61644
- Concept ID: C0206624
- Finding: Neoplastic Process
Neoplasm
- Hepatoblastoma
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