Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis (LMWPHN)

Alias:
Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuric Nephrocalcinosis
Proteinuria, Hypercalciuria, Nephrocalcinosis
Lmwphn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis, also known as proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, is related to dent disease 1 and fanconi renotubular syndrome 1. An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis is CLCN5 (Chloride Voltage-Gated Channel 5). Affiliated tissues include bone and kidney, and related phenotypes are nephrocalcinosis and low-molecular-weight proteinuria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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1
10
21

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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