Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected ...1

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Symptoms of Nephronophthisis

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Causes List: Nephronophthisis

Some of the causes of the condition may include:2 Causes of Nephronophthisis:

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Causes List for Nephronophthisis

Some possible causes of Nephronophthisis or similar disorders may include:3

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Types of Nephronophthisis

Some types of this condition may include:4 Types of nephronophthisis:

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Genetics of Nephronophthisis

Genetic Changes: Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis , results from changes affecting the ...5

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)6 ...

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  1. Source: GHR (NLM/NIH): condition/ nephronophthisis
  2. Source: Human Phenotype Ontology
  3. Source: Algorithmically Generated List
  4. Source: Disease Ontology
  5. Source: GHR (NLM/NIH): condition/ nephronophthisis
  6. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.