Details of Disease

General Information of Disease (ID: DISEFYYN)

• Disease Name: Vitelliform macular dystrophy
• Synonyms: vitelliform macular dystrophy; macular dystrophy, vitelliform
• Definition: A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.
• Disease Hierarchy:
  DISLKKHD: Macular degeneration
  DISEYSYY: Hereditary macular dystrophy
  DISEFYYN: Vitelliform macular dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0000390
  MESH ID: D057826
  UMLS CUI: C0339510
  MedGen ID: 137920

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCA4	TTLB52K	Strong	Genetic Variation	[1]
FTH1	TT975ZT	Strong	Genetic Variation	[2]
PYGM	TTZHY6R	Strong	Biomarker	[3]
RSPO3	TT7HJTF	Strong	Genetic Variation	[4]
SCGB1A1	TTONPVW	Strong	Biomarker	[5]

This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACD	OTC54EPO	Limited	Biomarker	[6]
C1QTNF5	OTLKU5I2	Limited	Genetic Variation	[7]
CPLANE1	OTXGGNNB	Limited	Genetic Variation	[8]
DDB1	OTTR2L3Z	Limited	Biomarker	[9]
INTS2	OT2N5TCK	Limited	Genetic Variation	[10]
MAK	OTEU2G41	Limited	Biomarker	[11]
MFRP	OTHY9ZA5	Limited	Genetic Variation	[7]
MS4A2	OTMCAS2D	Limited	Biomarker	[12]
NOC2L	OTNT7R33	Limited	Biomarker	[13]
PRPH2	OTNH2G5H	Limited	Genetic Variation	[14]
ROM1	OTE7H0YV	Limited	Biomarker	[3]
ARSF	OTC0L12N	Strong	Genetic Variation	[15]
CPED1	OTJJPZOZ	Strong	Biomarker	[16]
IMPG1	OT12HBL0	Strong	Genetic Variation	[17]
IMPG2	OTFPSJ0T	Strong	Genetic Variation	[18]
PITPNM3	OTHLZY8D	Strong	Biomarker	[19]
PSMD4	OTH1VZTM	Strong	Genetic Variation	[15]
RGN	OTD04KB1	Strong	Biomarker	[20]
RPE	OT0XT3JU	Strong	Genetic Variation	[21]
SALL1	OTYYZGLH	Strong	Biomarker	[22]
SRSF2	OTVDHO6U	Strong	Biomarker	[15]
SRSF5	OTC5WP98	Strong	Biomarker	[15]
SRSF6	OTGLOSYE	Strong	Biomarker	[15]
PLXNA2	OTNNBJMQ	Definitive	Biomarker	[13]

References

• [1] OUTER RETINAL TUBULATION IN RETINAL DYSTROPHIES.Retina. 2017 Mar;37(3):578-584. doi: 10.1097/IAE.0000000000001220.
• [2] Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.Exp Eye Res. 2014 Apr;121:74-85. doi: 10.1016/j.exer.2014.02.006. Epub 2014 Feb 19.
• [3] A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region.Hum Genet. 1995 Feb;95(2):219-22. doi: 10.1007/BF00209406.
• [4] Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.Nat Commun. 2016 Jan 6;7:10129. doi: 10.1038/ncomms10129.
• [5] cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein.Cytogenet Cell Genet. 2000;88(3-4):211-6. doi: 10.1159/000015552.
• [6] A network meta-analysis provides new insight into fungicide scheduling for the control of Botrytis cinerea in vineyards.Pest Manag Sci. 2019 Feb;75(2):324-332. doi: 10.1002/ps.5116. Epub 2018 Aug 31.
• [7] Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.
• [8] Human uteroglobin gene: structure, subchromosomal localization, and polymorphism.DNA Cell Biol. 1997 Jan;16(1):73-83. doi: 10.1089/dna.1997.16.73.
• [9] Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.Eur J Hum Genet. 1998 Jul-Aug;6(4):400-5. doi: 10.1038/sj.ejhg.5200196.
• [10] Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.Genomics. 1994 Mar 15;20(2):267-74. doi: 10.1006/geno.1994.1163.
• [11] Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.Exp Eye Res. 2014 Dec;129:93-106. doi: 10.1016/j.exer.2014.11.001. Epub 2014 Nov 5.
• [12] Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.Hum Hered. 1996 Jul-Aug;46(4):211-20. doi: 10.1159/000154356.
• [13] Multimodal Imaging in Best Vitelliform Macular Dystrophy.Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2012-2022. doi: 10.1167/iovs.19-26571.
• [14] Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
• [15] ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.
• [16] Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.PLoS Genet. 2012 Jul;8(7):e1002718. doi: 10.1371/journal.pgen.1002718. Epub 2012 Jul 5.
• [17] Gene discovery and prevalence in inherited retinal dystrophies.C R Biol. 2014 Mar;337(3):160-6. doi: 10.1016/j.crvi.2013.12.001. Epub 2014 Mar 4.
• [18] Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. Ophthalmology. 2014 Dec;121(12):2406-14. doi: 10.1016/j.ophtha.2014.06.028. Epub 2014 Jul 29.
• [19] Analysis of peripherin/RDS gene for Japanese retinal dystrophies.Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92. doi: 10.1016/s0021-5155(97)00133-0.
• [20] Bone Degeneration and Its Recovery in SMP30/GNL-Knockout Mice.J Nutr Health Aging. 2017;21(5):573-578. doi: 10.1007/s12603-016-0841-8.
• [21] Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550.
• [22] The lumbar spine age-related degenerative disease influences the BMD not the TBS: the Osteolaus cohort.Osteoporos Int. 2017 Mar;28(3):909-915. doi: 10.1007/s00198-016-3829-7. Epub 2016 Nov 30.