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CCMD
MCID: MCL057
MIFTS: 31

Macular Dystrophy with Central Cone Involvement (CCMD)

Categories: Eye diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Macular Dystrophy with Central Cone Involvement

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MalaCards integrated aliases for Macular Dystrophy with Central Cone Involvement:

Name: Macular Dystrophy with Central Cone Involvement 56 73 29 6 71
Ccmd 56 73
Dystrophy, Macular, with Central Cone Involvement 39

Characteristics:

OMIM:

56
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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 616170
MeSH 43 D005128
UMLS 71 C4015371
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Summaries for Macular Dystrophy with Central Cone Involvement

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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 personality disorder. An important gene associated with Macular Dystrophy with Central Cone Involvement is MFSD8 (Major Facilitator Superfamily Domain Containing 8). The drugs Haloperidol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are optic disc pallor and bull's eye maculopathy

More information from OMIM: 616170
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Related Diseases for Macular Dystrophy with Central Cone Involvement

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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 10.2
2 personality disorder 10.2

Sources

Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

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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:

56
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
Sources

Drugs & Therapeutics for Macular Dystrophy with Central Cone Involvement

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Drugs for Macular Dystrophy with Central Cone Involvement (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Haloperidol Approved Phase 4 52-86-8 3559
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3 Neurotransmitter Agents Phase 4
4 Antidepressive Agents Phase 4
5 Psychotropic Drugs Phase 4
6 Quetiapine Fumarate Phase 4 111974-72-2
7 Antipsychotic Agents Phase 4
8 Gastrointestinal Agents Phase 4
9 Dopamine Agents Phase 4
10 Dopamine Antagonists Phase 4
11 Antiemetics Phase 4
12 Haloperidol decanoate Phase 4
13
Valproic acid Approved, Investigational 99-66-1 3121
14
Aldesleukin Approved 85898-30-2, 110942-02-4
15 Anticonvulsants
16 Analgesics, Non-Narcotic
17 Analgesics
18 Interleukin-2
19 Anti-Retroviral Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study to Evaluate the Efficacy and Safety of Quetiapine Fumarate Instant-Release (Seroquel IR) in Controlling Agitation and Aggressive Symptoms in the Acute Treatment of Patients With Schizophrenia Unknown status NCT00838032 Phase 4 Quetiapine fumarate;Haloperidol
2 An Open Label, Randomised, Valproate-Controlled Study to Evaluate the Efficiency and Safety of Quetiapine Fumarate in the Treatment of Acute Manic Patients With Bipolar Disorder. Unknown status NCT00742638 Quetiapine fumarate;Sodium valproate
3 Influences on HIV Infected Subjects' Willingness to Participate in Research and Ability to Give Informed Consent Completed NCT00001717
4 An Omnibus Proleukin (IL-2) Trial in HIV Infected Patients Including Interrupted Versus Continuous Antiretrovirals (OPTICA) Completed NCT00311688 Interleukin-2
5 Obtaining Samples From Human Subjects to Facilitate Basic, Translational and Clinical Research Enrolling by invitation NCT03253705

Search NIH Clinical Center for Macular Dystrophy with Central Cone Involvement

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Genetic Tests for Macular Dystrophy with Central Cone Involvement

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Genetic tests related to Macular Dystrophy with Central Cone Involvement:

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

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

40
Eye, Testes, Brain, Thalamus, Temporal Lobe
Sources

Publications for Macular Dystrophy with Central Cone Involvement

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Articles related to Macular Dystrophy with Central Cone Involvement:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 56 6 61
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
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
6
Plasma metabolomics of depressed patients and treatment with Xiaoyaosan based on mass spectrometry technique. 61
31494201 2020
7
Pharmacy-based management for depression in adults. 61
31868236 2019
8
Multiple session early psychological interventions for the prevention of post-traumatic stress disorder. 61
31425615 2019
9
Melatonin and agomelatine for preventing seasonal affective disorder. 61
31206585 2019
10
Prevalence of Posttraumatic Stress Disorder (PTSD) and Its Correlates Among Junior High School Students at 53 Months After Experiencing an Earthquake. 61
30207265 2019
11
Psychological therapies for preventing seasonal affective disorder. 61
31124141 2019
12
Comparative effectiveness of continuation and maintenance treatments for persistent depressive disorder in adults. 61
31106850 2019
13
MFSD8 gene mutations; evidence for phenotypic heterogeneity. 61
31006324 2019
14
Second-generation antidepressants for preventing seasonal affective disorder in adults. 61
30883669 2019
15
Light therapy for preventing seasonal affective disorder. 61
30883670 2019
16
Inpatient versus outpatient care, partial hospitalisation and waiting list for people with eating disorders. 61
30663033 2019
17
Psychological therapies for anxiety and depression in children and adolescents with long-term physical conditions. 61
30578633 2018
18
Factors associated with the non-wear of mandibular dentures in the Brazilian public primary health care. 61
30379209 2018
19
Optimization of β-cyclodextrin consolidated micellar dispersion for promoting the transcorneal permeation of a practically insoluble drug. 61
30077759 2018
20
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
21
Antidepressants versus placebo for panic disorder in adults. 61
29620793 2018
22
Acupuncture for depression. 61
29502347 2018
23
Antidepressants for depression in adults with HIV infection. 61
29355886 2018
24
Review on Diagnostic Criteria of Neurasthenia: Suggesting Pathway of Culture-bound dieases. 61
30151292 2017
25
Music therapy for depression. 61
29144545 2017
26
Resolution of cassava-infecting alphaflexiviruses: Molecular and biological characterization of a novel group of potexviruses lacking the TGB3 gene. 61
28365210 2017
27
Psychological therapies for the treatment of anxiety disorders in chronic obstructive pulmonary disease. 61
28322440 2017
28
Carboxymethyl chitosan-modified magnetic-cored dendrimer as an amphoteric adsorbent. 61
27351905 2016
29
A cross-sectional study to investigate the correlation between depression comorbid with anxiety and serum lipid levels. 61
27423357 2016
30
Cross-cultural bias in the diagnosis of borderline personality disorder. 61
27294587 2016
31
[Application of spatial working memory task fMRI in evaluation of primary insomnia patient's cognitive dysfunction]. 61
26675798 2015
32
Discovering symptom co-occurrence patterns from 604 cases of depressive patient data using latent tree models. 61
24444096 2014
33
Correlative factors for organic psychotic symptoms in patients following traumatic brain injury. 61
24804382 2014
34
[Effects of apolipoprotein E genetic polymorphism on susceptibility of depression and efficacy of antidepressants]. 61
23286405 2012
35
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
36
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
37
[Proton magnetic resonance spectroscopy study of prefrontal lobe and thalamus in schizophrenics on modified electroconvulsive therapy]. 61
23253810 2012
38
[Epidemiological survey on neuropsychiatric disorders in Tibet of China: neuroses, alcohol-related disorders, mental retardation and epilepsy]. 61
22650033 2012
39
[Proton magnetic resonance spectroscopy of prefrontal lobe and thalamus in schizophrenics: correlation with clinical characteristics]. 61
22333054 2011
40
Acupuncture for depression. 61
20091556 2010
41
Sex differences in the temporal lobe white matter and the corpus callosum: a diffusion tensor tractography study. 61
19996809 2010
42
Clinical studies on event-related potentials (ERPs) N400 and the related factors in patients with poststroke depression (PSD). 61
21166343 2010
43
Posttraumatic stress disorder in convalescent severe acute respiratory syndrome patients: a 4-year follow-up study. 61
19892213 2009
44
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
45
Diagnosis of borderline personality disorder in China: current status and future directions. 61
19187712 2009
46
Chinese psychiatrists views on global features of CCMD-III, ICD-10 and DSM-IV. 61
23050999 2008
47
[Study of mental disorder due to brain damage]. 61
18979917 2008
48
Topology and function of CcmD in cytochrome c maturation. 61
18326572 2008
49
[Preliminary study of diffusion tensor imaging in treatment response assessment of major depression]. 61
18159016 2007
50
[Association study of the polymorphisms of monoamine oxidase A genes with schizophrenia]. 61
17680543 2007
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Variations for Macular Dystrophy with Central Cone Involvement

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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.1141G>T (p.Glu381Ter)SNV Pathogenic 162379 rs724159970 4:128842888-128842888 4:127921733-127921733
2 MFSD8 NM_152778.3(MFSD8):c.1102G>C (p.Asp368His)SNV Pathogenic 162380 rs727502800 4:128843015-128843015 4:127921860-127921860
3 MFSD8 NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter)SNV Pathogenic/Likely pathogenic 162382 rs724159971 4:128841898-128841898 4:127920743-127920743
4 MFSD8 NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln)SNV Conflicting interpretations of pathogenicity 162378 rs150418024 4:128843111-128843111 4:127921956-127921956
5 MFSD8 NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr)SNV Conflicting interpretations of pathogenicity 206153 rs200591471 4:128861029-128861029 4:127939874-127939874
6 MFSD8 NM_152778.3(MFSD8):c.343G>A (p.Val115Met)SNV Uncertain significance 206147 rs183450731 4:128865003-128865003 4:127943848-127943848
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.863C>T (p.Thr288Ile)SNV Uncertain significance 206156 rs755384900 4:128854140-128854140 4:127932985-127932985

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

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Expression for Macular Dystrophy with Central Cone Involvement

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

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GO Terms for Macular Dystrophy with Central Cone Involvement

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Sources for Macular Dystrophy with Central Cone Involvement

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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