MCID: MCL057
MIFTS: 19

Macular Dystrophy with Central Cone Involvement

Categories: Genetic diseases

Aliases & Classifications for Macular Dystrophy with Central Cone Involvement

MalaCards integrated aliases for Macular Dystrophy with Central Cone Involvement:

Name: Macular Dystrophy with Central Cone Involvement 57 75 29 6 73
Ccmd 57 75
Dystrophy, Macular, with Central Cone Involvement 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in third to sixth decade of life


HPO:

32
macular dystrophy with central cone involvement:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot : 75 Macular dystrophy with central cone involvement: An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels.

MalaCards based summary : Macular Dystrophy with Central Cone Involvement, also known as ccmd, is related to borderline personality disorder and personality disorder. An important gene associated with Macular Dystrophy with Central Cone Involvement is MFSD8 (Major Facilitator Superfamily Domain Containing 8). Affiliated tissues include eye and testes, and related phenotypes are visual impairment and optic disc pallor

Description from OMIM: 616170

Related Diseases for Macular Dystrophy with Central Cone Involvement

Diseases related to Macular Dystrophy with Central Cone Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 borderline personality disorder 10.1
2 personality disorder 10.1

Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
optic disc pallor (rare)
bull's eye maculopathy (in some patients)
profound atrophy in fovea (in some patients)
relative sparing of fovea with surrounding atrophic ring (in some patients)
more

Clinical features from OMIM:

616170

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 optic disc pallor 32 occasional (7.5%) HP:0000543
3 reduced visual acuity 32 HP:0007663
4 macular dystrophy 32 HP:0007754
5 bull's eye maculopathy 32 occasional (7.5%) HP:0011504

Drugs & Therapeutics for Macular Dystrophy with Central Cone Involvement

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy with Central Cone Involvement

Genetic Tests for Macular Dystrophy with Central Cone Involvement

Genetic tests related to Macular Dystrophy with Central Cone Involvement:

# Genetic test Affiliating Genes
1 Macular Dystrophy with Central Cone Involvement 29 MFSD8

Anatomical Context for Macular Dystrophy with Central Cone Involvement

MalaCards organs/tissues related to Macular Dystrophy with Central Cone Involvement:

41
Eye, Testes

Publications for Macular Dystrophy with Central Cone Involvement

Variations for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy with Central Cone Involvement:

75
# Symbol AA change Variation ID SNP ID
1 MFSD8 p.Glu336Gln VAR_072673 rs150418024

ClinVar genetic disease variations for Macular Dystrophy with Central Cone Involvement:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Benign rs150418024 GRCh38 Chromosome 4, 127921956: 127921956
2 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Benign rs150418024 GRCh37 Chromosome 4, 128843111: 128843111
3 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh38 Chromosome 4, 127921733: 127921733
4 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh37 Chromosome 4, 128842888: 128842888
5 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh38 Chromosome 4, 127921860: 127921860
6 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh37 Chromosome 4, 128843015: 128843015

Expression for Macular Dystrophy with Central Cone Involvement

Search GEO for disease gene expression data for Macular Dystrophy with Central Cone Involvement.

Pathways for Macular Dystrophy with Central Cone Involvement

GO Terms for Macular Dystrophy with Central Cone Involvement

Sources for Macular Dystrophy with Central Cone Involvement

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....