Details of Disease

General Information of Disease (ID: DIS7LCIM)

• Disease Name: Retinitis pigmentosa 17
• Synonyms: RP 17; retinitis pigmentosa caused by mutation in CA4; RP17; retinitis pigmentosa type 17; CA4 retinitis pigmentosa; retinitis pigmentosa 17
• Definition: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.
• Disease Hierarchy:
  DISCGPY8: Retinitis pigmentosa
  DIS7LCIM: Retinitis pigmentosa 17
• Disease Identifiers:
  MONDO ID: MONDO_0010945
  MESH ID: C563437
  UMLS CUI: C1833245
  OMIM ID: 600852
  MedGen ID: 322153

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
CA4	TTZHA0O	Limited	Genetic Variation	[1]
CA4	TTZHA0O	Strong	Autosomal dominant	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CA4	OT3K93LZ	Strong	Autosomal dominant	[2]
FSCN2	OTADS8G3	Strong	Genetic Variation	[3]
PRCD	OT64DNLW	Strong	Genetic Variation	[4]

References

• [1] Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.Curr Eye Res. 2010 May;35(5):440-4. doi: 10.3109/02713680903503512.
• [2] Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6617-22. doi: 10.1073/pnas.0401529101. Epub 2004 Apr 16.
• [3] Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.Eur J Hum Genet. 1999 Apr;7(3):332-8. doi: 10.1038/sj.ejhg.5200302.
• [4] Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans.Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3048-53. doi: 10.1073/pnas.95.6.3048.