Details of Disease | DrugMAP

General Information of Disease (ID: DISKFNCT)

Disease Name	Doyne honeycomb retinal dystrophy
Synonyms	familial drusen; DHD; drusen, radial, autosomal dominant; dominant radial drusen; Doyne honeycomb degeneration of retina; Malattia leventinese; dominant drusen; Doyne honeycomb retinal dystrophy; DHRD
Definition	Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.
Disease Hierarchy	DIST8UDW: Familial flecked retinopathy DIS04BI1: Retinal drusen DISKFNCT: Doyne honeycomb retinal dystrophy
Disease Identifiers	MONDO ID MONDO_0007471 MESH ID C535602 UMLS CUI C1832174 OMIM ID 126600 MedGen ID 321900 Orphanet ID 75376 SNOMED CT ID 193411004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFH	TTUW6OP	Supportive	Autosomal dominant	[1]
CFI	TT6ATLX	Supportive	Autosomal dominant	[2]
CFH	TTUW6OP	Strong	GermlineCausalMutation	[1]
CFI	TT6ATLX	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C1QTNF5	OTLKU5I2	Limited	Genetic Variation	[3]
MFRP	OTHY9ZA5	Limited	Genetic Variation	[3]
CFH	OTAGKQTJ	Supportive	Autosomal dominant	[1]
CFI	OTQYYX0P	Supportive	Autosomal dominant	[2]
RPE	OT0XT3JU	Strong	Genetic Variation	[4]
EFEMP1	OTZVUOOB	Definitive	Autosomal dominant	[5]
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⏷ Show the Full List of 6 DOT(s)

References

1	Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007.
2	Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. J Med Genet. 2015 Jul;52(7):484-92. doi: 10.1136/jmedgenet-2015-103130. Epub 2015 May 18.
3	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.
4	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.
5	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.