Details of Disease

General Information of Disease (ID: DIS1VBL1)

Disease Name Hypophosphatemic nephrolithiasis/osteoporosis 1
Synonyms NPHLOP1; nephrolithiasis/osteoporosis, hypophosphatemic, 1; hypophosphatemic nephrolithiasis/osteoporosis type 1; nephrolithiasis/osteoporosis, hypophosphatemic, type 1
Disease Hierarchy
DISXCFIW: Nephrolithiasis/osteoporosis, hypophosphatemic
DISNCQLA: Inherited kidney disorder
DISK7GAB: Kidney disease
DIS1VBL1: Hypophosphatemic nephrolithiasis/osteoporosis 1
Disease Identifiers
MONDO ID
MONDO_0012850
MESH ID
C567363
UMLS CUI
C2676786
OMIM ID
612286
MedGen ID
436776

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC34A1 DT42EWA Limited Autosomal dominant [1]
SLC34A1 DT42EWA Limited Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC34A1 OTNOMLU2 Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.J Clin Endocrinol Metab. 2014 Nov;99(11):E2451-6. doi: 10.1210/jc.2014-1517. Epub 2014 Jul 22.