Fanconi renotubular syndrome 1
- Synonyms
- De Toni-Fanconi syndrome; FRTS1; LUDER-SHELDON SYNDROME; Neonatal De Toni-Debre-Fanconi syndrome; Toni-Debre-Fanconi syndrome
Available tests
Clinical tests (26 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypokalemia
Hypokalemia
- MedGen UID: 5712
- Concept ID: C0020621
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypophosphatemia
Hypophosphatemia
- MedGen UID: 39327
- Concept ID: C0085682
- 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
- Elevated circulating alkaline phosphatase concentration
- Abnormality of the genitourinary system
- Aminoaciduria
Aminoaciduria
- MedGen UID: 116067
- Concept ID: C0238621
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Glycosuria
Glycosuria
- MedGen UID: 42267
- Concept ID: C0017979
- Finding: Finding
Abnormality of the genitourinary system
- Hyperphosphaturia
Hyperphosphaturia
- MedGen UID: 78638
- Concept ID: C0268079
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Impaired renal tubular reabsorption of phosphate
Impaired renal tubular reabsorption of phosphate
- MedGen UID: 1815096
- Concept ID: C5706190
- Finding: Pathologic Function
Abnormality of the genitourinary system
- Lacticaciduria
Lacticaciduria
- MedGen UID: 871116
- Concept ID: C4025585
- Finding: Finding
Abnormality of the genitourinary system
- Low-molecular-weight proteinuria
Low-molecular-weight proteinuria
- MedGen UID: 333360
- Concept ID: C1839606
- 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
- Renal tubular dysfunction
Renal tubular dysfunction
- MedGen UID: 57484
- Concept ID: C0151747
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Aminoaciduria
- Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteomalacia
Osteomalacia
- MedGen UID: 14533
- Concept ID: C0029442
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Rickets
Rickets
- MedGen UID: 48470
- Concept ID: C0035579
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscle weakness
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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