Details of Disease

General Information of Disease (ID: DISJ2YQQ)

Disease Name Hereditary hypophosphatemic rickets with hypercalciuria
Synonyms
hypercalciuric rickets; hypophosphatemic rickets with hypercalciuria, hereditary; hypophosphatemic hypercalciuric rickets; hypercalciuric hypophosphatemic rickets; hypophosphatemic rickets with hypercalciuria; HHRH
Definition
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Disease Hierarchy
DIS5A054: Abnormal mineralization disorder
DISFHXFA: Hereditary hypophosphatemic rickets
DISJ2YQQ: Hereditary hypophosphatemic rickets with hypercalciuria
Disease Identifiers
MONDO ID
MONDO_0009431
MESH ID
C562793
UMLS CUI
C1853271
OMIM ID
241530
MedGen ID
501133
Orphanet ID
157215
SNOMED CT ID
237891005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC34A3 DTKS517 Limited Biomarker [1]
SLC34A1 DT42EWA Strong Biomarker [2]
SLC34A3 DTKS517 Strong Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC34A3 OT4L2BNR Strong Autosomal recessive [3]
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References

1 Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney.Clin Exp Nephrol. 2019 Mar;23(3):313-324. doi: 10.1007/s10157-018-1653-4. Epub 2018 Oct 13.
2 Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5372-7. doi: 10.1073/pnas.95.9.5372.
3 SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet. 2006 Feb;78(2):179-92. doi: 10.1086/499409. Epub 2005 Dec 9.