CCMD
MCID: MCL057
MIFTS: 28

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 57 73 29 6 71
Ccmd 57 73
Dystrophy, Macular, with Central Cone Involvement 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
macular dystrophy with central cone involvement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616170
MeSH 44 D005128
UMLS 71 C4015371

Summaries for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot : 73 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 pathological gambling. An important gene associated with Macular Dystrophy with Central Cone Involvement is MFSD8 (Major Facilitator Superfamily Domain Containing 8). Affiliated tissues include eye, brain and thalamus, and related phenotypes are optic disc pallor and bull's eye maculopathy

More information 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 9.9
2 pathological gambling 9.9
3 somatization disorder 9.9
4 personality disorder 9.9
5 neurotic disorder 9.9
6 rapidly involuting congenital hemangioma 9.9

Graphical network of the top 20 diseases related to Macular Dystrophy with Central Cone Involvement:



Diseases related to Macular Dystrophy with Central Cone Involvement

Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

31
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 31 occasional (7.5%) HP:0000543
2 bull's eye maculopathy 31 occasional (7.5%) HP:0011504
3 reduced visual acuity 31 HP:0007663
4 macular dystrophy 31 HP:0007754
5 central scotoma 31 HP:0000603

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Eye, Brain, Thalamus, Temporal Lobe

Publications for Macular Dystrophy with Central Cone Involvement

Articles related to Macular Dystrophy with Central Cone Involvement:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 57 61 6
25227500 2015
2
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. 6
31597037 2019
3
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 6
19177532 2009
4
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 6
17564970 2007
5
Inhibition of biofilm and quorum sensing-regulated virulence factors in Pseudomonas aeruginosa by Cuphea carthagenensis (Jacq.) J. F. Macbr. Leaf extract: An in vitro study. 61
33340600 2021
6
Psychological and social interventions for the prevention of mental disorders in people living in low- and middle-income countries affected by humanitarian crises. 61
32897548 2020
7
Behavioural activation therapy for depression in adults with non-communicable diseases. 61
32841367 2020
8
Behavioural activation therapy for depression in adults. 61
32628293 2020
9
Ex vivo comparison of antibacterial efficacy of conventional chemomechanical debridement alone and in combination with light-activated disinfection and laser irradiation against Enterococcus faecalis biofilm. 61
31904552 2020
10
Aberrant Resting-State Brain Function in Adolescent Depression. 61
32903315 2020
11
Plasma metabolomics of depressed patients and treatment with Xiaoyaosan based on mass spectrometry technique. 61
31494201 2020
12
Pharmacy-based management for depression in adults. 61
31868236 2019
13
Multiple session early psychological interventions for the prevention of post-traumatic stress disorder. 61
31425615 2019
14
Melatonin and agomelatine for preventing seasonal affective disorder. 61
31206585 2019
15
Prevalence of Posttraumatic Stress Disorder (PTSD) and Its Correlates Among Junior High School Students at 53 Months After Experiencing an Earthquake. 61
30207265 2019
16
Comparative effectiveness of continuation and maintenance treatments for persistent depressive disorder in adults. 61
31106850 2019
17
Psychological therapies for preventing seasonal affective disorder. 61
31124141 2019
18
MFSD8 gene mutations; evidence for phenotypic heterogeneity. 61
31006324 2019
19
Light therapy for preventing seasonal affective disorder. 61
30883670 2019
20
Second-generation antidepressants for preventing seasonal affective disorder in adults. 61
30883669 2019
21
Inpatient versus outpatient care, partial hospitalisation and waiting list for people with eating disorders. 61
30663033 2019
22
Psychological therapies for anxiety and depression in children and adolescents with long-term physical conditions. 61
30578633 2018
23
Factors associated with the non-wear of mandibular dentures in the Brazilian public primary health care. 61
30379209 2018
24
Clinical effects and safety of electroacupuncture for the treatment of post-stroke depression: a systematic review and meta-analysis of randomised controlled trials. 61
29776950 2018
25
Optimization of β-cyclodextrin consolidated micellar dispersion for promoting the transcorneal permeation of a practically insoluble drug. 61
30077759 2018
26
Antidepressants versus placebo for panic disorder in adults. 61
29620793 2018
27
Acupuncture for depression. 61
29502347 2018
28
Antidepressants for depression in adults with HIV infection. 61
29355886 2018
29
Review on Diagnostic Criteria of Neurasthenia: Suggesting Pathway of Culture-bound dieases. 61
30151292 2017
30
Music therapy for depression. 61
29144545 2017
31
Resolution of cassava-infecting alphaflexiviruses: Molecular and biological characterization of a novel group of potexviruses lacking the TGB3 gene. 61
28365210 2017
32
Psychological therapies for the treatment of anxiety disorders in chronic obstructive pulmonary disease. 61
28322440 2017
33
Carboxymethyl chitosan-modified magnetic-cored dendrimer as an amphoteric adsorbent. 61
27351905 2016
34
A cross-sectional study to investigate the correlation between depression comorbid with anxiety and serum lipid levels. 61
27423357 2016
35
Cross-cultural bias in the diagnosis of borderline personality disorder. 61
27294587 2016
36
[Application of spatial working memory task fMRI in evaluation of primary insomnia patient's cognitive dysfunction]. 61
26675798 2015
37
Discovering symptom co-occurrence patterns from 604 cases of depressive patient data using latent tree models. 61
24444096 2014
38
Correlative factors for organic psychotic symptoms in patients following traumatic brain injury. 61
24804382 2014
39
[Effects of apolipoprotein E genetic polymorphism on susceptibility of depression and efficacy of antidepressants]. 61
23286405 2012
40
Prevalence of personality disorders using two diagnostic systems in psychiatric outpatients in Shanghai, China: a comparison of uni-axial and multi-axial formulation. 61
22160097 2012
41
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? 61
22867506 2012
42
[Proton magnetic resonance spectroscopy study of prefrontal lobe and thalamus in schizophrenics on modified electroconvulsive therapy]. 61
23253810 2012
43
[Epidemiological survey on neuropsychiatric disorders in Tibet of China: neuroses, alcohol-related disorders, mental retardation and epilepsy]. 61
22650033 2012
44
[Proton magnetic resonance spectroscopy of prefrontal lobe and thalamus in schizophrenics: correlation with clinical characteristics]. 61
22333054 2011
45
Clinical studies on event-related potentials (ERPs) N400 and the related factors in patients with poststroke depression (PSD). 61
21166343 2010
46
Sex differences in the temporal lobe white matter and the corpus callosum: a diffusion tensor tractography study. 61
19996809 2010
47
Acupuncture for depression. 61
20091556 2010
48
Posttraumatic stress disorder in convalescent severe acute respiratory syndrome patients: a 4-year follow-up study. 61
19892213 2009
49
The XIA's No. 1 sleeping Prescription for the treatment of insomnia of the deficiency type: a clinical observation of 60 cases. 61
19894388 2009
50
Diagnosis of borderline personality disorder in China: current status and future directions. 61
19187712 2009

Variations for Macular Dystrophy with Central Cone Involvement

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFSD8 NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) SNV Pathogenic 162378 rs150418024 4:128843111-128843111 4:127921956-127921956
2 MFSD8 NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) SNV Pathogenic 162379 rs724159970 4:128842888-128842888 4:127921733-127921733
3 MFSD8 NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) SNV Pathogenic 162380 rs727502800 4:128843015-128843015 4:127921860-127921860
4 MFSD8 NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) SNV Likely pathogenic 162382 rs724159971 4:128841898-128841898 4:127920743-127920743
5 MFSD8 NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile) SNV Uncertain significance 206156 rs755384900 4:128854140-128854140 4:127932985-127932985
6 MFSD8 NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) SNV Uncertain significance 206153 rs200591471 4:128861029-128861029 4:127939874-127939874
7 MFSD8 NM_152778.3(MFSD8):c.5C>T (p.Ala2Val) SNV Uncertain significance 626139 rs867524398 4:128886284-128886284 4:127965129-127965129
8 MFSD8 NM_152778.3(MFSD8):c.343G>A (p.Val115Met) SNV Uncertain significance 206147 rs183450731 4:128865003-128865003 4:127943848-127943848

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

73
# Symbol AA change Variation ID SNP ID
1 MFSD8 p.Glu336Gln VAR_072673 rs150418024

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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