Details of Disease

General Information of Disease (ID: DISCIMGJ)

• Disease Name: Hypophosphatemic rickets, autosomal recessive, 1
• Synonyms: ARHR1; Arhr; hypophosphatemia, autosomal recessive; DMP1 autosomal recessive hypophosphatemic rickets; hypophosphatemic rickets, AR; hypophosphatemic rickets, autosomal recessive, 1; autosomal recessive hypophosphatemic rickets caused by mutation in DMP1; hypophosphatemic rickets, autosomal recessive, type 1
• Definition: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.
• Disease Hierarchy:
  DIS8E3KA: Autosomal recessive hypophosphatemic rickets
  DIS5A054: Abnormal mineralization disorder
  DISCIMGJ: Hypophosphatemic rickets, autosomal recessive, 1
• Disease Identifiers:
  MONDO ID: MONDO_0009430
  MESH ID: C562792
  UMLS CUI: C4551495
  OMIM ID: 241520
  MedGen ID: 1632314

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DMP1	OTBWBWW7	Definitive	Autosomal recessive	[1]

References

• [1] Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006 Nov;38(11):1310-5. doi: 10.1038/ng1905. Epub 2006 Oct 8.