MCID: MCL029
MIFTS: 16

Macular Degeneration, X-Linked Atrophic malady

Category: Genetic diseases (common)

Aliases & Classifications for Macular Degeneration, X-Linked Atrophic

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Aliases & Descriptions for Macular Degeneration, X-Linked Atrophic:

Name: Macular Degeneration, X-Linked Atrophic 51 12
Macular Degeneration, X-Linked, Atrophic 69 26
 
Mdxla 69

Characteristics:

HPO:

63
macular degeneration, x-linked atrophic:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 300834
MedGen36 C3151784
MeSH38 D008268

Summaries for Macular Degeneration, X-Linked Atrophic

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UniProtKB/Swiss-Prot:69 Macular degeneration, X-linked, atrophic: An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.

MalaCards based summary: Macular Degeneration, X-Linked Atrophic, is also known as macular degeneration, x-linked, atrophic, and has symptoms including macular degeneration and reduced visual acuity. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (Retinitis Pigmentosa GTPase Regulator).

Description from OMIM:51 300834

Related Diseases for Macular Degeneration, X-Linked Atrophic

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Symptoms for Macular Degeneration, X-Linked Atrophic

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Clinical features from OMIM:

300834

Human phenotypes related to Macular Degeneration, X-Linked Atrophic:

 63
id Description HPO Frequency HPO Source Accession
1 macular degeneration63 HP:0000608
2 reduced visual acuity63 HP:0007663

Drugs & Therapeutics for Macular Degeneration, X-Linked Atrophic

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Interventional clinical trials:

idNameStatusNCT IDPhase
1High Resolution Retinal ImagingRecruitingNCT01866371
2Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Macular Degeneration, X-Linked Atrophic

Genetic Tests for Macular Degeneration, X-Linked Atrophic

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Genetic tests related to Macular Degeneration, X-Linked Atrophic:

id Genetic test Affiliating Genes
1 Macular Degeneration, X-Linked Atrophic26

Anatomical Context for Macular Degeneration, X-Linked Atrophic

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Animal Models for Macular Degeneration, X-Linked Atrophic or affiliated genes

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Publications for Macular Degeneration, X-Linked Atrophic

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Variations for Macular Degeneration, X-Linked Atrophic

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Clinvar genetic disease variations for Macular Degeneration, X-Linked Atrophic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RPGRRPGR, IVS15, G-T, +1164SNVPathogenicChr na, -1: -1

Expression for genes affiliated with Macular Degeneration, X-Linked Atrophic

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Search GEO for disease gene expression data for Macular Degeneration, X-Linked Atrophic.

Pathways for genes affiliated with Macular Degeneration, X-Linked Atrophic

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GO Terms for genes affiliated with Macular Degeneration, X-Linked Atrophic

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Sources for Macular Degeneration, X-Linked Atrophic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet