MDXLA
MCID: MCL029
MIFTS: 16

Macular Degeneration, X-Linked Atrophic (MDXLA) 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 52 12
Macular Degeneration, X-Linked, Atrophic 70 27
 
Mdxla 70

Characteristics:

HPO:

64
macular degeneration, x-linked atrophic:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 300834
MedGen37 C3151784
MeSH39 D008268

Summaries for Macular Degeneration, X-Linked Atrophic

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UniProtKB/Swiss-Prot:70 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:52 300834

Related Diseases for Macular Degeneration, X-Linked Atrophic

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Symptoms & Phenotypes for Macular Degeneration, X-Linked Atrophic

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Clinical features from OMIM:

300834

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

 64
id Description HPO Frequency HPO Source Accession
1 macular degeneration64 HP:0000608
2 reduced visual acuity64 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 Atrophic27

Anatomical Context for Macular Degeneration, X-Linked Atrophic

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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, +1164SNVPathogenic

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet