MCID: MCL035
MIFTS: 17

Macular Dystrophy, Retinal, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 2

MalaCards integrated aliases for Macular Dystrophy, Retinal, 2:

Name: Macular Dystrophy, Retinal, 2 53 13
Mcdr2 53 55 71
Retinal Macular Dystrophy Type 2 55
Retinal Macular Dystrophy 2 71

Characteristics:

Orphanet epidemiological data:

55
retinal macular dystrophy type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
macular dystrophy, retinal, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 608051
Orphanet 55 ORPHA319640
UMLS via Orphanet 70 C0339512
ICD10 via Orphanet 33 H35.5
MedGen 39 C0339512
MeSH 41 D008268
SNOMED-CT via HPO 65 263681008 38950008 13164000

Summaries for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot : 71 Retinal macular dystrophy 2: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.

MalaCards based summary : Macular Dystrophy, Retinal, 2, is also known as mcdr2, and has symptoms including central scotoma, dyschromatopsia and reduced visual acuity. An important gene associated with Macular Dystrophy, Retinal, 2 is PROM1 (Prominin 1). Affiliated tissues include eye.

Description from OMIM: 608051

Related Diseases for Macular Dystrophy, Retinal, 2

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
bilateral macular retinal pigment epithelial mottling
bilateral macular retinal pigment epithelial atrophy
bilateral red-speckled retinal pigment epithelium
ring of moderately increased perifoveal autofluorescence
dyschromatopsia
more

Clinical features from OMIM:

608051

Human phenotypes related to Macular Dystrophy, Retinal, 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 central scotoma 31 HP:0000603
2 dyschromatopsia 31 HP:0007641
3 reduced visual acuity 31 HP:0007663
4 retinal pigment epithelial atrophy 31 HP:0007722
5 macular dystrophy 31 HP:0007754
6 granular macular appearance 31 HP:0007793
7 perifoveal ring of hyperautofluorescence 31 HP:0030629

Drugs & Therapeutics for Macular Dystrophy, Retinal, 2

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Retinal, 2

Genetic Tests for Macular Dystrophy, Retinal, 2

Anatomical Context for Macular Dystrophy, Retinal, 2

MalaCards organs/tissues related to Macular Dystrophy, Retinal, 2:

38
Eye

Publications for Macular Dystrophy, Retinal, 2

Articles related to Macular Dystrophy, Retinal, 2:

# Title Authors Year
1
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. ( 12657606 )
2003

Variations for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Retinal, 2:

71
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Macular Dystrophy, Retinal, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922

Expression for Macular Dystrophy, Retinal, 2

Search GEO for disease gene expression data for Macular Dystrophy, Retinal, 2.

Pathways for Macular Dystrophy, Retinal, 2

GO Terms for Macular Dystrophy, Retinal, 2

Sources for Macular Dystrophy, Retinal, 2

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
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