Details of Disease

General Information of Disease (ID: DISG98UR)

• Disease Name: Hypophosphatemic rickets, autosomal recessive, 2
• Synonyms: ARHR2; ENPP1 autosomal recessive hypophosphatemic rickets; hypophosphatemic rickets, autosomal recessive, type 2; autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1; Autosomal Recessive Hypophosphatemic Rickets Type 2; hypophosphatemic rickets, autosomal recessive, 2
• Definition: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.
• Disease Hierarchy:
  DIS8E3KA: Autosomal recessive hypophosphatemic rickets
  DIS5A054: Abnormal mineralization disorder
  DISG98UR: Hypophosphatemic rickets, autosomal recessive, 2
• Disease Identifiers:
  MONDO ID: MONDO_0013219
  MESH ID: C567647
  UMLS CUI: C2750078
  OMIM ID: 613312
  MedGen ID: 442380

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ENPP1	TTZTIWS	moderate	Genetic Variation	[1]
ENPP1	TTZTIWS	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DMP1	OTBWBWW7	Strong	Biomarker	[3]
ENPP1	OT3MPPYX	Strong	Autosomal recessive	[2]

References

• [1] Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):967-70. doi: 10.1515/jpem-2014-0531.
• [2] Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010 Feb 12;86(2):273-8. doi: 10.1016/j.ajhg.2010.01.010. Epub 2010 Feb 4.
• [3] Unique roles of phosphorus in endochondral bone formation and osteocyte maturation.J Bone Miner Res. 2011 May;26(5):1047-56. doi: 10.1002/jbmr.294.