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 57 29 13 6
Macular Degeneration, X-Linked, Atrophic 75
Degeneration, Macular, X-Linked Atrophic 40
Mdxla 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 300834
MedGen 42 C3151784
MeSH 44 D008268
SNOMED-CT via HPO 69 422338006 13164000

Summaries for Macular Degeneration, X-Linked Atrophic

UniProtKB/Swiss-Prot : 75 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 retina, and related phenotypes are macular degeneration and reduced visual acuity

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:

57
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:

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

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:

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....