CCMD
MCID: MCL057
MIFTS: 32

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 74 29 6 72
Ccmd 57 74
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:



External Ids:

OMIM 57 616170
MeSH 44 D005128
UMLS 72 C4015371

Summaries for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot : 74 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 Dopamine and Haloperidol 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

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 10.2
2 personality disorder 10.2
3 rapidly involuting congenital hemangioma 10.2
4 neuronal ceroid lipofuscinosis 9.5 MFSD8 ABHD18

Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

32
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 32 occasional (7.5%) HP:0000543
2 bull's eye maculopathy 32 occasional (7.5%) HP:0011504
3 reduced visual acuity 32 HP:0007663
4 central scotoma 32 HP:0000603
5 macular dystrophy 32 HP:0007754

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

Drugs & Therapeutics for Macular Dystrophy with Central Cone Involvement

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Haloperidol Approved Phase 4 52-86-8 3559
3 Peripheral Nervous System Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Tranquilizing Agents Phase 4
6 Central Nervous System Depressants Phase 4
7 Quetiapine Fumarate Phase 4 111974-72-2
8 Antidepressive Agents Phase 4
9 Antipsychotic Agents Phase 4
10 Psychotropic Drugs Phase 4
11 Antiemetics Phase 4
12 Dopamine Agents Phase 4
13 Gastrointestinal Agents Phase 4
14 Haloperidol decanoate Phase 4
15 Dopamine Antagonists Phase 4
16 Autonomic Agents Phase 4
17
Valproic acid Approved, Investigational 99-66-1 3121
18
Aldesleukin Approved 85898-30-2, 110942-02-4
19 GABA Agents
20 Anticonvulsants
21 Antimanic Agents
22 Analgesics, Non-Narcotic
23 Analgesics
24 Anti-Retroviral Agents
25 Interleukin-2

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

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, 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 77)
# Title Authors PMID Year
1
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 38 8 71
25227500 2015
2
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 71
19177532 2009
3
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 71
17564970 2007
4
Multiple session early psychological interventions for the prevention of post-traumatic stress disorder. 38
31425615 2019
5
Melatonin and agomelatine for preventing seasonal affective disorder. 38
31206585 2019
6
Prevalence of Posttraumatic Stress Disorder (PTSD) and Its Correlates Among Junior High School Students at 53 Months After Experiencing an Earthquake. 38
30207265 2019
7
Psychological therapies for preventing seasonal affective disorder. 38
31124141 2019
8
Comparative effectiveness of continuation and maintenance treatments for persistent depressive disorder in adults. 38
31106850 2019
9
MFSD8 gene mutations; evidence for phenotypic heterogeneity. 38
31006324 2019
10
Second-generation antidepressants for preventing seasonal affective disorder in adults. 38
30883669 2019
11
Light therapy for preventing seasonal affective disorder. 38
30883670 2019
12
Inpatient versus outpatient care, partial hospitalisation and waiting list for people with eating disorders. 38
30663033 2019
13
Psychological therapies for anxiety and depression in children and adolescents with long-term physical conditions. 38
30578633 2018
14
Factors associated with the non-wear of mandibular dentures in the Brazilian public primary health care. 38
30379209 2018
15
Optimization of β-cyclodextrin consolidated micellar dispersion for promoting the transcorneal permeation of a practically insoluble drug. 38
30077759 2018
16
Clinical effects and safety of electroacupuncture for the treatment of post-stroke depression: a systematic review and meta-analysis of randomised controlled trials. 38
29776950 2018
17
Antidepressants versus placebo for panic disorder in adults. 38
29620793 2018
18
Acupuncture for depression. 38
29502347 2018
19
Antidepressants for depression in adults with HIV infection. 38
29355886 2018
20
Review on Diagnostic Criteria of Neurasthenia: Suggesting Pathway of Culture-bound dieases. 38
30151292 2017
21
Music therapy for depression. 38
29144545 2017
22
Resolution of cassava-infecting alphaflexiviruses: Molecular and biological characterization of a novel group of potexviruses lacking the TGB3 gene. 38
28365210 2017
23
Psychological therapies for the treatment of anxiety disorders in chronic obstructive pulmonary disease. 38
28322440 2017
24
Carboxymethyl chitosan-modified magnetic-cored dendrimer as an amphoteric adsorbent. 38
27351905 2016
25
A cross-sectional study to investigate the correlation between depression comorbid with anxiety and serum lipid levels. 38
27423357 2016
26
Cross-cultural bias in the diagnosis of borderline personality disorder. 38
27294587 2016
27
[Application of spatial working memory task fMRI in evaluation of primary insomnia patient's cognitive dysfunction]. 38
26675798 2015
28
Discovering symptom co-occurrence patterns from 604 cases of depressive patient data using latent tree models. 38
24444096 2014
29
Correlative factors for organic psychotic symptoms in patients following traumatic brain injury. 38
24804382 2014
30
[Effects of apolipoprotein E genetic polymorphism on susceptibility of depression and efficacy of antidepressants]. 38
23286405 2012
31
Prevalence of personality disorders using two diagnostic systems in psychiatric outpatients in Shanghai, China: a comparison of uni-axial and multi-axial formulation. 38
22160097 2012
32
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? 38
22867506 2012
33
[Proton magnetic resonance spectroscopy study of prefrontal lobe and thalamus in schizophrenics on modified electroconvulsive therapy]. 38
23253810 2012
34
[Epidemiological survey on neuropsychiatric disorders in Tibet of China: neuroses, alcohol-related disorders, mental retardation and epilepsy]. 38
22650033 2012
35
[Proton magnetic resonance spectroscopy of prefrontal lobe and thalamus in schizophrenics: correlation with clinical characteristics]. 38
22333054 2011
36
Acupuncture for depression. 38
20091556 2010
37
Sex differences in the temporal lobe white matter and the corpus callosum: a diffusion tensor tractography study. 38
19996809 2010
38
Clinical studies on event-related potentials (ERPs) N400 and the related factors in patients with poststroke depression (PSD). 38
21166343 2010
39
Posttraumatic stress disorder in convalescent severe acute respiratory syndrome patients: a 4-year follow-up study. 38
19892213 2009
40
The XIA's No. 1 sleeping Prescription for the treatment of insomnia of the deficiency type: a clinical observation of 60 cases. 38
19894388 2009
41
Diagnosis of borderline personality disorder in China: current status and future directions. 38
19187712 2009
42
Chinese psychiatrists views on global features of CCMD-III, ICD-10 and DSM-IV. 38
23050999 2008
43
[Study of mental disorder due to brain damage]. 38
18979917 2008
44
Topology and function of CcmD in cytochrome c maturation. 38
18326572 2008
45
[Preliminary study of diffusion tensor imaging in treatment response assessment of major depression]. 38
18159016 2007
46
[Association study of the polymorphisms of monoamine oxidase A genes with schizophrenia]. 38
17680543 2007
47
Diagnostic concordance of neurasthenia spectrum disorders in Pune, India. 38
17476439 2007
48
[Comparative study of Modified Xiaoyao Pill combining amitriptyline on therapeutic effect and compliance in treating patients with depression]. 38
17717929 2007
49
[Effects of paroxetine with or without zolpidem on depression with insomnia: a multi-center randomized comparative study]. 38
17803844 2007
50
[Value of integrated visual and auditory continuous performance test in the diagnosis of childhood attention deficit hyperactivity disorder]. 38
17582257 2007

Variations for Macular Dystrophy with Central Cone Involvement

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MFSD8 NM_152778.3(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 4:128842888-128842888 4:127921733-127921733
2 MFSD8 NM_152778.3(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 4:128843015-128843015 4:127921860-127921860
3 MFSD8 NM_152778.3(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic/Likely pathogenic rs724159971 4:128841898-128841898 4:127920743-127920743
4 MFSD8 NM_152778.3(MFSD8): c.677T> C (p.Ile226Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200591471 4:128861029-128861029 4:127939874-127939874
5 MFSD8 NM_152778.3(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 4:128843111-128843111 4:127921956-127921956
6 MFSD8 NM_152778.3(MFSD8): c.343G> A (p.Val115Met) single nucleotide variant Uncertain significance rs183450731 4:128865003-128865003 4:127943848-127943848
7 MFSD8 NM_152778.3(MFSD8): c.5C> T (p.Ala2Val) single nucleotide variant Uncertain significance 4:128886284-128886284 4:127965129-127965129
8 MFSD8 NM_152778.3(MFSD8): c.863C> T (p.Thr288Ile) single nucleotide variant Uncertain significance rs755384900 4:128854140-128854140 4:127932985-127932985

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

74
# 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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