Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type (CTNSJAN)

Alias:
Juvenile Nephropathic Cystinosis
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic
Cystinosis, Intermediate
Intermediate Cystinosis
Cystinosis Intermediate
Juvenile Cystinosis
Ctnsjan
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type, also known as juvenile nephropathic cystinosis, is related to cystinosis and cystinosis, nephropathic. An important gene associated with Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type is CTNS (Cystinosin, Lysosomal Cystine Transporter). Affiliated tissues include kidney and bone, and related phenotypes are abnormal cornea morphology and proteinuria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
4
60

Medical Symptom

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

Gene & Mutation

#
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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