Phosphate transport defect
- Synonyms
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (62 available)
Biochemical Genetics Tests
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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