Dent Disease 2 (DENT2)

Alias:
Dent Disease Type 2
Dent2
Dent Disease, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dent Disease 2, also known as dent disease type 2, is related to dent disease 1 and lowe oculocerebrorenal syndrome. An important gene associated with Dent Disease 2 is OCRL (OCRL Inositol Polyphosphate-5-Phosphatase), and among its related pathways/superpathways are Inositol phosphate metabolism and superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism. Affiliated tissues include kidney and bone, and related phenotypes are umbilical hernia and hypercalciuria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
--
2
9
9

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
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IF
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