MDXLA
MCID: MCL029
MIFTS: 18

Macular Degeneration, X-Linked Atrophic (MDXLA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Macular Degeneration, X-Linked Atrophic

MalaCards integrated aliases for Macular Degeneration, X-Linked Atrophic:

Name: Macular Degeneration, X-Linked Atrophic 57 29 13 6
Macular Degeneration, X-Linked, Atrophic 72
Degeneration, Macular, X-Linked Atrophic 39
X-Linked Atrophic Macular Degeneration 12
Mdxla 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
carrier females have subtle perimacular rpe depigmentation
based on the report of one family


HPO:

31
macular degeneration, x-linked atrophic:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112157
OMIM® 57 300834
MeSH 44 D008268
MedGen 41 C3151784
SNOMED-CT via HPO 68 13164000 422338006

Summaries for Macular Degeneration, X-Linked Atrophic

UniProtKB/Swiss-Prot : 72 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. An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (Retinitis Pigmentosa GTPase Regulator). Affiliated tissues include eye and retina, and related phenotypes are reduced visual acuity and macular degeneration

Disease Ontology : 12 A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has material basis in hemizygous mutation in RPGR on chromosome Xp11.4.

More information from OMIM: 300834

Related Diseases for Macular Degeneration, X-Linked Atrophic

Symptoms & Phenotypes for Macular Degeneration, X-Linked Atrophic

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

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 macular degeneration 31 HP:0000608

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
macular degeneration
visual acuity loss, progressive
central vision loss, progressive
hypopigmentated retina without intraretinal pigment clumping
erg responses normal to some reduction in cone and rod function

Clinical features from OMIM®:

300834 (Updated 20-May-2021)

Drugs & Therapeutics for Macular Degeneration, X-Linked Atrophic

Search Clinical Trials , 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:

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

Anatomical Context for Macular Degeneration, X-Linked Atrophic

MalaCards organs/tissues related to Macular Degeneration, X-Linked Atrophic:

40
Eye, Retina

Publications for Macular Degeneration, X-Linked Atrophic

Articles related to Macular Degeneration, X-Linked Atrophic:

(showing 2, show less)
# Title Authors PMID Year
1
X-linked recessive atrophic macular degeneration from RPGR mutation. 57 6
12160730 2002
2
Photobiomodulation Therapy for Attenuating the Dystrophic Phenotype of Mdx Mice. 61
31733143 2020

Variations for Macular Degeneration, X-Linked Atrophic

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

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPGR RPGR, IVS15, G-T, +1164 SNV Pathogenic 9913 GRCh37:
GRCh38:
2 RPGR NM_000328.3(RPGR):c.1905+1273_1905+1274del Microsatellite Pathogenic 216990 rs771214648 GRCh37: X:38145073-38145074
GRCh38: X:38285820-38285821

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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