MCDR3
MCID: MCL026
MIFTS: 15

Macular Dystrophy, Retinal, 3 (MCDR3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 3

MalaCards integrated aliases for Macular Dystrophy, Retinal, 3:

Name: Macular Dystrophy, Retinal, 3 57 13 70
Mcdr3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
disease is nonprogressive in most patients
onset in first decade of life


HPO:

31
macular dystrophy, retinal, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 608850
MedGen 41 C3888009
UMLS 70 C3888009

Summaries for Macular Dystrophy, Retinal, 3

MalaCards based summary : Macular Dystrophy, Retinal, 3, also known as mcdr3, is related to macular dystrophy, retinal, 1, north carolina type. An important gene associated with Macular Dystrophy, Retinal, 3 is MCDR3 (Macular Dystrophy, Retinal 3). Related phenotypes are reduced visual acuity and color vision defect

More information from OMIM: 608850

Related Diseases for Macular Dystrophy, Retinal, 3

Diseases in the Macular Dystrophy, Retinal, 2 family:

Macular Dystrophy, Retinal, 3

Diseases related to Macular Dystrophy, Retinal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macular dystrophy, retinal, 1, north carolina type 11.0

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 3

Human phenotypes related to Macular Dystrophy, Retinal, 3:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 color vision defect 31 HP:0000551
3 central scotoma 31 HP:0000603
4 retinal pigment epithelial atrophy 31 HP:0007722
5 macular drusen 31 HP:0030499

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
decreased visual acuity
central scotomata (in some patients)
mild color vision defects (in some patients)
drusen-like macular deposits
macular retinal pigment epithelium atrophy
more

Clinical features from OMIM®:

608850 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Dystrophy, Retinal, 3

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Retinal, 3

Genetic Tests for Macular Dystrophy, Retinal, 3

Anatomical Context for Macular Dystrophy, Retinal, 3

Publications for Macular Dystrophy, Retinal, 3

Articles related to Macular Dystrophy, Retinal, 3:

# Title Authors PMID Year
1
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. 57 61
28790370 2017
2
Genetic linkage studies of a North Carolina macular dystrophy family. 61 57
27496188 2016
3
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. 57 61
26507665 2016
4
Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. 57 61
21179233 2010
5
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. 61 57
12714659 2003
6
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. 61
28635424 2017

Variations for Macular Dystrophy, Retinal, 3

Expression for Macular Dystrophy, Retinal, 3

Search GEO for disease gene expression data for Macular Dystrophy, Retinal, 3.

Pathways for Macular Dystrophy, Retinal, 3

GO Terms for Macular Dystrophy, Retinal, 3

Sources for Macular Dystrophy, Retinal, 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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