Infantile nephronophthisis
- Synonyms
- Nephronophthisis 2; Nephronophthisis 2, infantile
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
Elevated circulating creatinine concentration
- MedGen UID: 148579
- Concept ID: C0700225
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperkalemia
Hyperkalemia
- MedGen UID: 5691
- Concept ID: C0020461
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperkalemic metabolic acidosis
Hyperkalemic metabolic acidosis
- MedGen UID: 356106
- Concept ID: C1865880
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
- Abnormality of prenatal development or birth
- Oligohydramnios
Oligohydramnios
- MedGen UID: 86974
- Concept ID: C0079924
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Oligohydramnios
- 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 valve insufficiency
Pulmonary valve insufficiency
- MedGen UID: 11031
- Concept ID: C0034088
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Situs inversus
Situs inversus
- MedGen UID: 1642262
- Concept ID: C4551493
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the genitourinary system
- Absence of renal corticomedullary differentiation
Absence of renal corticomedullary differentiation
- MedGen UID: 342352
- Concept ID: C1849765
- Finding: Finding
Abnormality of the genitourinary system
- Chronic tubulointerstitial nephritis
Chronic tubulointerstitial nephritis
- MedGen UID: 65957
- Concept ID: C0238304
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Enlarged kidney
Enlarged kidney
- MedGen UID: 108156
- Concept ID: C0542518
- Finding: Finding
Abnormality of the genitourinary system
- Hyperechogenic kidneys
Hyperechogenic kidneys
- MedGen UID: 477530
- Concept ID: C3275899
- Finding: Finding
Abnormality of the genitourinary system
- Nephronophthisis
Nephronophthisis
- MedGen UID: 146912
- Concept ID: C0687120
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal cortical microcysts
Renal cortical microcysts
- MedGen UID: 356391
- Concept ID: C1865877
- Finding: Finding
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Absence of renal corticomedullary differentiation
- Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Pulmonary hypoplasia
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