Details of Disease

General Information of Disease (ID: DISX2RCU)

• Disease Name: Usher syndrome type 2C
• Synonyms: Usher syndrome, type IIb; Usher syndrome, type 2C; Usher syndrome, type IIb, formerly; Usher syndrome, type IIc, Gpr98/Pdzd7, digenic; USHER syndrome, type IIC; Usher syndrome type IIC; Usher syndrome, type 2C, autosomal recessive, digenic dominant; USH2C; Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant; Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant
• Definition: A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.
• Disease Hierarchy:
  DIS3LO3C: Usher syndrome type 2
  DISX2RCU: Usher syndrome type 2C
• Disease Identifiers:
  MONDO ID: MONDO_0011558
  MESH ID: C536492
  UMLS CUI: C2931213
  OMIM ID: 605472
  MedGen ID: 419359

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A7	DT03V27	Definitive	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDZD7	OTX3VAOB	Limited	Unknown	[2]
ADGRV1	OTLVXHHP	Strong	Autosomal recessive	[3]

References

• [1] Time course of auditory impairment in mice lacking the electroneutral sodium bicarbonate cotransporter NBC3 (slc4a7).Brain Res Dev Brain Res. 2005 Nov 7;160(1):63-77. doi: 10.1016/j.devbrainres.2005.08.008. Epub 2005 Sep 21.
• [2] PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.
• [3] Non-USH2A mutations in USH2 patients. Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6.