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Nephronophthisis 12 (NPHP12)

Alias:
Joubert Syndrome 11
Nphp12
Nephronophthisis, Type 12
Jbts11
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 12, also known as joubert syndrome 11, is related to ciliopathy and end stage renal disease. An important gene associated with Nephronophthisis 12 is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Signaling by Hedgehog. Affiliated tissues include kidney, and related phenotypes are nephronophthisis and stage 5 chronic kidney disease
Related ID：
MALACARDS：NPH067
OMIM：613820
MESH：D002526

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
14
88
4
NPH067

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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