Details of Disease | DrugMAP

General Information of Disease (ID: DISFVBJE)

Disease Name	Sorsby fundus dystrophy
Synonyms	Sorsby pseudoinflammatory fundus dystrophy; Sorsby's pseudoinflammatory macular dystrophy; macular dystrophy, hemorrhagic; fundus dystrophy, pseudoinflammatory, of Sorsby; Sorsby's fundus dystrophy; hemorrhagic macular dystrophy; Sorsby fundus dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD
Definition	A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISFVBJE: Sorsby fundus dystrophy
Disease Identifiers	MONDO ID MONDO_0007640 MESH ID C564992 UMLS CUI C1850938 OMIM ID 136900 MedGen ID 338164 Orphanet ID 59181 SNOMED CT ID 193410003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1QTNF5	OTLKU5I2	Limited	Genetic Variation	[1]
MFRP	OTHY9ZA5	Limited	Genetic Variation	[1]
ATP6V1H	OTX17GQ9	Strong	Biomarker	[2]
RPE	OT0XT3JU	Strong	Biomarker	[3]
TIMP3	OTDGQAD1	Definitive	Autosomal dominant	[4]
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References

1	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.
2	A review of tissue inhibitor of metalloproteinases-3 (TIMP-3) and experimental analysis of its effect on primary tumor growth.Biochem Cell Biol. 1996;74(6):853-62. doi: 10.1139/o96-090.
3	Drusen in patient-derived hiPSC-RPE models of macular dystrophies.Proc Natl Acad Sci U S A. 2017 Sep 26;114(39):E8214-E8223. doi: 10.1073/pnas.1710430114. Epub 2017 Sep 6.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.