Juvenile Nephronophthisis

Alias:
Nephronophthisis, Familial Juvenile
Nephronophthisis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Juvenile Nephronophthisis, also known as nephronophthisis, familial juvenile, is related to nephronophthisis 1 and nephronophthisis 3, and has symptoms including polyuria and polydipsia. An important gene associated with Juvenile Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. The drugs Coal tar and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotype is renal/urinary system.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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20
122
181

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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