Details of Disease

General Information of Disease (ID: DISEYSYY)

• Disease Name: Hereditary macular dystrophy
• Synonyms: genetic macular dystrophy (disease); genetic macular dystrophy
• Definition: Macular dystrophy that is related to a change in a gene.
• Disease Hierarchy:
  DISGGL77: Inherited retinal dystrophy
  DISEYSYY: Hereditary macular dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0020242
  UMLS CUI: C0339508
  MedGen ID: 137919
  SNOMED CT ID: 276436007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TST	TT51OTS	Disputed	Genetic Variation	[1]
AMD1	TTBFROQ	moderate	Genetic Variation	[2]
RPGR	TTHBDA9	moderate	Biomarker	[3]
TSPAN7	TTMT6VE	moderate	Biomarker	[4]
ABCA4	TTLB52K	Strong	Biomarker	[5]
ALDH3A2	TTB6UM0	Strong	Altered Expression	[6]
CDH3	TTARMD9	Strong	Genetic Variation	[7]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
RDH5	DESI4OK	Strong	Genetic Variation	[8]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFEMP1	OTZVUOOB	Limited	Genetic Variation	[2]
PRPH	OT6VUH78	Limited	Genetic Variation	[1]
CRB1	OTXYUNG0	moderate	Genetic Variation	[9]
EYS	OT0NBPL5	moderate	Genetic Variation	[3]
PEX1	OTQJF0V7	moderate	Genetic Variation	[10]
CRX	OTH435SV	Strong	Biomarker	[3]
ELOVL4	OT2M9W26	Strong	Genetic Variation	[11]
GNGT2	OTRI3Q10	Strong	Genetic Variation	[12]
IMPG1	OT12HBL0	Strong	Genetic Variation	[13]
MFSD8	OT455EIC	Strong	Genetic Variation	[14]
PITPNM3	OTHLZY8D	Strong	Biomarker	[15]
PRPH2	OTNH2G5H	Strong	Genetic Variation	[4]
ROM1	OTE7H0YV	Strong	Biomarker	[16]
RPE	OT0XT3JU	Strong	Biomarker	[17]

References

• [1] Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.Retina. 2009 May;29(5):682-8. doi: 10.1097/IAE.0b013e318198dbed.
• [2] Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes.Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1455-1461. doi: 10.1167/iovs.16-20955.
• [3] Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531.
• [4] Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.Hum Mol Genet. 2018 Oct 15;27(20):3507-3518. doi: 10.1093/hmg/ddy240.
• [5] Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy.Stem Cell Res. 2019 Jan;34:101352. doi: 10.1016/j.scr.2018.11.013. Epub 2018 Nov 30.
• [6] Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjgren-Larsson syndrome.Am J Ophthalmol. 2000 Dec;130(6):782-9. doi: 10.1016/s0002-9394(00)00576-6.
• [7] New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.BMC Med Genet. 2017 Jan 7;18(1):1. doi: 10.1186/s12881-016-0364-5.
• [8] Macular dystrophy in a Japanese family with fundus albipunctatus.Am J Ophthalmol. 2003 Jun;135(6):917-9. doi: 10.1016/s0002-9394(02)02290-0.
• [9] A clinical and molecular characterisation of CRB1-associated maculopathy.Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1.
• [10] Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.Ophthalmic Genet. 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063.
• [11] ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.Prog Retin Eye Res. 2019 Mar;69:137-158. doi: 10.1016/j.preteyeres.2018.10.004. Epub 2018 Oct 25.
• [12] Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.Mol Vis. 1998 Sep 17;4:16.
• [13] Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.
• [14] Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.
• [15] 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.
• [16] ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4253-65. doi: 10.1167/iovs.09-4655. Epub 2010 Mar 24.
• [17] Early Onset Ultrastructural and Functional Defects in RPE and Photoreceptors of a Stargardt-Like Macular Dystrophy (STGD3) Transgenic Mouse Model.Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7109-21. doi: 10.1167/iovs.15-17567.