CCMD
MCID: MCL057
MIFTS: 22

Macular Dystrophy with Central Cone Involvement (CCMD)

Categories: Eye diseases, 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 58 76 30 6 74
Ccmd 58 76
Dystrophy, Macular, with Central Cone Involvement 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
macular dystrophy with central cone involvement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616170
MeSH 45 D005128
UMLS 74 C4015371

Summaries for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot : 76 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 optic disc pallor and bull's eye maculopathy

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

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

33
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 33 occasional (7.5%) HP:0000543
2 bull's eye maculopathy 33 occasional (7.5%) HP:0011504
3 reduced visual acuity 33 HP:0007663
4 central scotoma 33 HP:0000603
5 macular dystrophy 33 HP:0007754

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MFSD8

Anatomical Context for Macular Dystrophy with Central Cone Involvement

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

42
Eye, Testes

Publications for Macular Dystrophy with Central Cone Involvement

Articles related to Macular Dystrophy with Central Cone Involvement:

(show all 11)
# Title Authors Year
1
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. ( 25227500 )
2015
2
Are DSM-IV-TR borderline personality disorder, ICD-10 emotionally unstable personality disorder, and CCMD-III impulsive personality disorder analogous diagnostic categories across psychiatric nomenclatures? ( 22867506 )
2012
3
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. ( 19177532 )
2009
4
Topology and function of CcmD in cytochrome c maturation. ( 18326572 )
2008
5
Chinese psychiatrists views on global features of CCMD-III, ICD-10 and DSM-IV. ( 23050999 )
2008
6
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. ( 17564970 )
2007
7
CcmD is involved in complex formation between CcmC and the heme chaperone CcmE during cytochrome c maturation. ( 15513913 )
2005
8
Chinese classification of mental disorders (CCMD-3): towards integration in international classification. ( 12145505 )
2002
9
New insights into the role of CcmC, CcmD and CcmE in the haem delivery pathway during cytochrome c maturation by a complete mutational analysis of the conserved tryptophan-rich motif of CcmC. ( 10998170 )
2000
10
Cultures in psychiatric nosology: the CCMD-2-R and international classification of mental disorders. ( 8989986 )
1996
11
The CCRN-CCMD partnership: advancing the quality of patient care. ( 8226000 )
1993

Variations for Macular Dystrophy with Central Cone Involvement

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

76
# 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 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 GRCh38 Chromosome 4, 127921956: 127921956
2 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity 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
7 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic/Likely pathogenic rs724159971 GRCh37 Chromosome 4, 128841898: 128841898
8 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic/Likely pathogenic rs724159971 GRCh38 Chromosome 4, 127920743: 127920743
9 MFSD8 NM_152778.2(MFSD8): c.863C> T (p.Thr288Ile) single nucleotide variant Uncertain significance rs755384900 GRCh37 Chromosome 4, 128854140: 128854140
10 MFSD8 NM_152778.2(MFSD8): c.863C> T (p.Thr288Ile) single nucleotide variant Uncertain significance rs755384900 GRCh38 Chromosome 4, 127932985: 127932985
11 MFSD8 NM_152778.2(MFSD8): c.677T> C (p.Ile226Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200591471 GRCh37 Chromosome 4, 128861029: 128861029
12 MFSD8 NM_152778.2(MFSD8): c.677T> C (p.Ile226Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200591471 GRCh38 Chromosome 4, 127939874: 127939874
13 MFSD8 NM_152778.2(MFSD8): c.343G> A (p.Val115Met) single nucleotide variant Uncertain significance rs183450731 GRCh38 Chromosome 4, 127943848: 127943848
14 MFSD8 NM_152778.2(MFSD8): c.343G> A (p.Val115Met) single nucleotide variant Uncertain significance rs183450731 GRCh37 Chromosome 4, 128865003: 128865003
15 MFSD8 NM_152778.2(MFSD8): c.5C> T (p.Ala2Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 128886284: 128886284
16 MFSD8 NM_152778.2(MFSD8): c.5C> T (p.Ala2Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 127965129: 127965129

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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