Nephronophthisis 1 (NPHP1)

Alias:
Nphp1
Nephronophthisis, Familial Juvenile
Nephronophthisis 1, Juvenile
Nph1
Familial Juvenile Nephronophthisis 1
Juvenile Nephronophthisis 1
Nephronophthisis, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 1, also known as nphp1, is related to joubert syndrome 4 and nephronophthisis 18, and has symptoms including polyuria and polydipsia. An important gene associated with Nephronophthisis 1 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include kidney and liver, and related phenotypes are nephronophthisis and hypertension
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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13
112
44

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
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
Year
IF
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