Details of Disease

General Information of Disease (ID: DISP0YU7)

• Disease Name: Retinitis pigmentosa 7
• Synonyms: retinitis pigmentosa 7, digenic; RP 7; Leber congenital amaurosis 18; retinitis pigmentosa type 7; retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant; retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant; RP7; leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant; retinitis pigmentosa 7
• Definition: A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.
• Disease Hierarchy:
  DISCGPY8: Retinitis pigmentosa
  DISP0YU7: Retinitis pigmentosa 7
• Disease Identifiers:
  MONDO ID: MONDO_0011974
  MESH ID: C564284
  UMLS CUI: C1842475
  OMIM ID: 608133
  MedGen ID: 334168

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
IMPDH1	TT3GRLK	Strong	Genetic Variation	[1]
TST	TT51OTS	Strong	Biomarker	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ROM1	OTE7H0YV	Limited	Unknown	[2]
PRPH	OT6VUH78	Strong	Biomarker	[1]
PRPH2	OTNH2G5H	Definitive	Autosomal recessive	[3]

References

• [1] Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.Am J Hum Genet. 1996 Feb;58(2):347-55.
• [2] Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003624. doi: 10.1101/mcs.a003624. Print 2019 Jun.
• [3] Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.