Nephronophthisis 3 (NPHP3)

Alias:
Nphp3
Nph3
Adolescent Nephronophthisis
Nephronophthisis, Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 3, also known as nphp3, is related to meckel syndrome, type 7 and renal-hepatic-pancreatic dysplasia 1, and has symptoms including polyuria, polydipsia and secondary enuresis. An important gene associated with Nephronophthisis 3 is NPHP3 (Nephrocystin 3). Affiliated tissues include kidney and prostate, and related phenotypes are proteinuria and hematuria
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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
79
17

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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