MDXLA
MCID: MCL029
MIFTS: 16

Macular Degeneration, X-Linked Atrophic (MDXLA) malady

Categories: Genetic diseases

Aliases & Classifications for Macular Degeneration, X-Linked Atrophic

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

Name: Macular Degeneration, X-Linked Atrophic 54 13
Macular Degeneration, X-Linked, Atrophic 66 29
Mdxla 66

Characteristics:

HPO:

32
macular degeneration, x-linked atrophic:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300834
MedGen 40 C3151784
MeSH 42 D008268

Summaries for Macular Degeneration, X-Linked Atrophic

UniProtKB/Swiss-Prot : 66 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 acuity and macular degeneration. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (Retinitis Pigmentosa GTPase Regulator).

Description from OMIM: 300834

Related Diseases for Macular Degeneration, X-Linked Atrophic

Symptoms & Phenotypes for Macular Degeneration, X-Linked Atrophic

Clinical features from OMIM:

300834

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

32
id Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 macular degeneration 32 HP:0000608

Drugs & Therapeutics for Macular Degeneration, X-Linked Atrophic

Interventional clinical trials:


id Name Status NCT ID Phase
1 High Resolution Retinal Imaging Recruiting NCT01866371
2 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

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

Genetic Tests for Macular Degeneration, X-Linked Atrophic

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

id Genetic test Affiliating Genes
1 Macular Degeneration, X-Linked Atrophic 29

Anatomical Context for Macular Degeneration, X-Linked Atrophic

Publications for Macular Degeneration, X-Linked Atrophic

Variations for Macular Degeneration, X-Linked Atrophic

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPGR RPGR, IVS15, G-T, +1164 single nucleotide variant Pathogenic

Expression for Macular Degeneration, X-Linked Atrophic

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

Pathways for Macular Degeneration, X-Linked Atrophic

GO Terms for Macular Degeneration, X-Linked Atrophic

Sources for Macular Degeneration, X-Linked Atrophic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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