MCID: MCL029
MIFTS: 13

Macular Degeneration, X-Linked Atrophic

Categories: Genetic diseases

Aliases & Classifications for Macular Degeneration, X-Linked Atrophic

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

Name: Macular Degeneration, X-Linked Atrophic 53 28 13
Macular Degeneration, X-Linked, Atrophic 71
Mdxla 71

Characteristics:

OMIM:

53
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:

OMIM 53 300834
MedGen 39 C3151784
MeSH 41 D008268
SNOMED-CT via HPO 65 422338006 13164000

Summaries for Macular Degeneration, X-Linked Atrophic

UniProtKB/Swiss-Prot : 71 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). Affiliated tissues include retina.

Description from OMIM: 300834

Related Diseases for Macular Degeneration, X-Linked Atrophic

Symptoms & Phenotypes for Macular Degeneration, X-Linked Atrophic

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
visual acuity loss, progressive
central vision loss, progressive
macular degeneration
hypopigmentated retina without intraretinal pigment clumping
erg responses normal to some reduction in cone and rod function


Clinical features from OMIM:

300834

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

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 macular degeneration 31 HP:0000608

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 28 RPGR

Anatomical Context for Macular Degeneration, X-Linked Atrophic

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

38
Retina

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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....