Nephronophthisis 2 (NPHP2)

Alias:
Nphp2
Nephronophthisis 2, Infantile
Infantile Nephronophthisis
Nph2
Infantile Nephronophthisis 2
Nephronophthisis, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 2, also known as nphp2, is related to infantile nephronophthisis and end stage renal disease. An important gene associated with Nephronophthisis 2 is INVS (Inversin), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and lung, and related phenotypes are stage 5 chronic kidney disease and renal cortical microcysts
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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