Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 (NPHLOP1)

Alias:
Hypophosphatemic Nephrolithiasis/osteoporosis 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nphlop1
Nephrolithiasis/osteoporosis, Hypophosphatemic, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1, also known as hypophosphatemic nephrolithiasis/osteoporosis 1, is related to idiopathic infantile hypercalcemia and fanconi renotubular syndrome 2. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways are Signaling by FGFR2 and Vitamin D receptor pathway. Affiliated tissues include kidney, and related phenotypes are osteopenia and hypophosphatemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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16
125
2

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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