MCID: MCL029
MIFTS: 15

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 50 12
Macular Degeneration, X-Linked, Atrophic 68 25
 
Mdxla 68

Characteristics:

HPO:

62
macular degeneration, x-linked atrophic:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 300834
MedGen35 C3151784
MeSH37 D008268

Summaries for Macular Degeneration, X-Linked Atrophic

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UniProtKB/Swiss-Prot:68 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:50 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

HPO human phenotypes related to Macular Degeneration, X-Linked Atrophic:

id Description Frequency HPO Source Accession
1 macular degeneration HP:0000608
2 reduced visual acuity HP:0007663

Drugs & Therapeutics for Macular Degeneration, X-Linked Atrophic

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Interventional clinical trials:

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

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 Atrophic25

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, +1164single nucleotide variantPathogenic

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet