MCID: MCL029
MIFTS: 12

Macular Degeneration, X-Linked Atrophic malady

Genetic diseases (common) category

Summaries for Macular Degeneration, X-Linked Atrophic

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MalaCards based summary: Macular Degeneration, X-Linked Atrophic and has symptoms including macular degeneration, x-linked recessive inheritance and decreased central vision. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (retinitis pigmentosa GTPase regulator).

Description from OMIM:45 300834

Aliases & Classifications for Macular Degeneration, X-Linked Atrophic

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

Name: Macular Degeneration, X-Linked Atrophic 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 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 x-linked recessive inheritance HP:0001419
3 decreased central vision HP:0007663

Drugs & Therapeutics for Macular Degeneration, X-Linked Atrophic

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Drug clinical trials:

Search ClinicalTrials for Macular Degeneration, X-Linked Atrophic

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 Atrophic22

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:

6
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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Compounds 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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Products for genes affiliated with Macular Degeneration, X-Linked Atrophic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Macular Degeneration, X-Linked Atrophic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet