Late-Onset Retinal Degeneration (LORD)

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OMIM 57 605670 Disease Ontology 12 DOID:0060869 Orphanet 59 ORPHA67042 UMLS via Orphanet 74 C1854065

MedGen 42 C1854065 KEGG 37 H01130 SNOMED-CT via HPO 69 263681008 29555009 28835009 95695004 7973008 23388006 81016008 65956007 more UMLS 73 C1854065 C0035334

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67042Disease definitionLate-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.Visit the Orphanet disease page for more resources.

MalaCards based summary : Late-Onset Retinal Degeneration, also known as lord, is related to hardikar syndrome and kearns-sayre syndrome. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5), and among its related pathways/superpathways is Amino sugar and nucleotide sugar metabolism. The drugs Antioxidants and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina, and related phenotypes are blindness and retinopathy

Disease Ontology : ¹² A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material basis in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.

OMIM : ⁵⁷ Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). (605670)

UniProtKB/Swiss-Prot : ⁷⁵ Late-onset retinal degeneration: Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.

Clinical features from OMIM:

605670

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	9.68	HCAR1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.68	HCAR1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.68	C1QTNF5 MFRP
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.68	C1QTNF5 MFRP
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.68	C1QTNF5 MFRP HCAR1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-44	9.68	C1QTNF5 MFRP
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.68	HCAR1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-83	9.68	HCAR1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.68	HCAR1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.68	HCAR1

Search NIH Clinical Center for Late-Onset Retinal Degeneration

Search GEO for disease gene expression data for Late-Onset Retinal Degeneration.