MCID: MCL029
MIFTS: 11

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 49 11
Macular Degeneration, X-Linked, Atrophic 67 24
 
Mdxla 67

Characteristics:

HPO:

61
macular degeneration, x-linked atrophic:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300834
MedGen34 C3151784
MeSH36 D008268

Summaries for Macular Degeneration, X-Linked Atrophic

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UniProtKB/Swiss-Prot:67 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 reduced visual acuityand macular degeneration. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (Retinitis Pigmentosa GTPase Regulator).

Description from OMIM:49 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 reduced visual acuity HP:0007663
2 macular degeneration HP:0000608

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet