MCID: MCL026
MIFTS: 14

Macular Dystrophy, Retinal, 3

Categories: Genetic diseases, Eye 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 73
Mcdr3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
macular dystrophy, retinal, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608850
MedGen 42 C3888009
UMLS 73 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 abnormality of color vision and central scotoma

Description 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 11.3

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Macular Dystrophy, Retinal, 3:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of color vision 32 HP:0000551
2 central scotoma 32 HP:0000603
3 reduced visual acuity 32 HP:0007663
4 retinal pigment epithelial atrophy 32 HP:0007722
5 macular drusen 32 HP:0030499

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

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 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
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