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CCMD
MCID: MCL057
MIFTS: 28

Macular Dystrophy with Central Cone Involvement (CCMD)

Categories: Eye diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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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 57 72 29 6 70
Ccmd 57 72
Dystrophy, Macular, with Central Cone Involvement 39

Characteristics:

OMIM®:

57 (Updated 20-May-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:

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


External Ids:

OMIM® 57 616170
MeSH 44 D005128
UMLS 70 C4015371
Sources

Summaries for Macular Dystrophy with Central Cone Involvement

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UniProtKB/Swiss-Prot : 72 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 rapidly involuting congenital hemangioma and borderline 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, thalamus and temporal lobe, 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 rapidly involuting congenital hemangioma 9.9
2 borderline personality disorder 9.9
3 pathological gambling 9.9
4 somatization disorder 9.9
5 personality disorder 9.9
6 neurotic disorder 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
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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®:

57 (Updated 20-May-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 20-May-2021)

Sources

Drugs & Therapeutics for Macular Dystrophy with Central Cone Involvement

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Search Clinical Trials , 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
Sources

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, Thalamus, Temporal Lobe, Brain
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 87)
# Title Authors PMID Year
1
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 61 57 6
25227500 2015
2
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
3
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. 6
31597037 2019
4
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 6
19177532 2009
5
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 6
17564970 2007
6
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
7
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
8
Behavioural activation therapy for depression in adults with non-communicable diseases. 61
32841367 2020
9
Behavioural activation therapy for depression in adults. 61
32628293 2020
10
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
11
Aberrant Resting-State Brain Function in Adolescent Depression. 61
32903315 2020
12
Plasma metabolomics of depressed patients and treatment with Xiaoyaosan based on mass spectrometry technique. 61
31494201 2020
13
Pharmacy-based management for depression in adults. 61
31868236 2019
14
Multiple session early psychological interventions for the prevention of post-traumatic stress disorder. 61
31425615 2019
15
Melatonin and agomelatine for preventing seasonal affective disorder. 61
31206585 2019
16
Prevalence of Posttraumatic Stress Disorder (PTSD) and Its Correlates Among Junior High School Students at 53 Months After Experiencing an Earthquake. 61
30207265 2019
17
Psychological therapies for preventing seasonal affective disorder. 61
31124141 2019
18
Comparative effectiveness of continuation and maintenance treatments for persistent depressive disorder in adults. 61
31106850 2019
19
MFSD8 gene mutations; evidence for phenotypic heterogeneity. 61
31006324 2019
20
Light therapy for preventing seasonal affective disorder. 61
30883670 2019
21
Second-generation antidepressants for preventing seasonal affective disorder in adults. 61
30883669 2019
22
Inpatient versus outpatient care, partial hospitalisation and waiting list for people with eating disorders. 61
30663033 2019
23
Psychological therapies for anxiety and depression in children and adolescents with long-term physical conditions. 61
30578633 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
Factors associated with the non-wear of mandibular dentures in the Brazilian public primary health care. 61
30379209 2018
26
Optimization of β-cyclodextrin consolidated micellar dispersion for promoting the transcorneal permeation of a practically insoluble drug. 61
30077759 2018
27
Antidepressants versus placebo for panic disorder in adults. 61
29620793 2018
28
Acupuncture for depression. 61
29502347 2018
29
Antidepressants for depression in adults with HIV infection. 61
29355886 2018
30
Review on Diagnostic Criteria of Neurasthenia: Suggesting Pathway of Culture-bound dieases. 61
30151292 2017
31
Music therapy for depression. 61
29144545 2017
32
Resolution of cassava-infecting alphaflexiviruses: Molecular and biological characterization of a novel group of potexviruses lacking the TGB3 gene. 61
28365210 2017
33
Psychological therapies for the treatment of anxiety disorders in chronic obstructive pulmonary disease. 61
28322440 2017
34
Carboxymethyl chitosan-modified magnetic-cored dendrimer as an amphoteric adsorbent. 61
27351905 2016
35
A cross-sectional study to investigate the correlation between depression comorbid with anxiety and serum lipid levels. 61
27423357 2016
36
Cross-cultural bias in the diagnosis of borderline personality disorder. 61
27294587 2016
37
[Application of spatial working memory task fMRI in evaluation of primary insomnia patient's cognitive dysfunction]. 61
26675798 2015
38
Discovering symptom co-occurrence patterns from 604 cases of depressive patient data using latent tree models. 61
24444096 2014
39
Correlative factors for organic psychotic symptoms in patients following traumatic brain injury. 61
24804382 2014
40
[Effects of apolipoprotein E genetic polymorphism on susceptibility of depression and efficacy of antidepressants]. 61
23286405 2012
41
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
42
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
43
[Proton magnetic resonance spectroscopy study of prefrontal lobe and thalamus in schizophrenics on modified electroconvulsive therapy]. 61
23253810 2012
44
[Epidemiological survey on neuropsychiatric disorders in Tibet of China: neuroses, alcohol-related disorders, mental retardation and epilepsy]. 61
22650033 2012
45
[Proton magnetic resonance spectroscopy of prefrontal lobe and thalamus in schizophrenics: correlation with clinical characteristics]. 61
22333054 2011
46
Clinical studies on event-related potentials (ERPs) N400 and the related factors in patients with poststroke depression (PSD). 61
21166343 2010
47
Acupuncture for depression. 61
20091556 2010
48
Sex differences in the temporal lobe white matter and the corpus callosum: a diffusion tensor tractography study. 61
19996809 2010
49
Posttraumatic stress disorder in convalescent severe acute respiratory syndrome patients: a 4-year follow-up study. 61
19892213 2009
50
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
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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 Position
1 MFSD8 NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) SNV Pathogenic 162379 rs724159970 GRCh37: 4:128842888-128842888
GRCh38: 4:127921733-127921733
2 MFSD8 NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) SNV Pathogenic 162380 rs727502800 GRCh37: 4:128843015-128843015
GRCh38: 4:127921860-127921860
3 MFSD8 NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr) SNV Likely pathogenic 1048170 GRCh37: 4:128861036-128861036
GRCh38: 4:127939881-127939881
4 MFSD8 NM_152778.3(MFSD8):c.754+2T>A SNV Likely pathogenic 65897 rs587778809 GRCh37: 4:128859936-128859936
GRCh38: 4:127938781-127938781
5 MFSD8 NM_152778.4(MFSD8):c.1444C>T SNV Likely pathogenic 162382 rs724159971 GRCh37: 4:128841898-128841898
GRCh38: 4:127920743-127920743
6 MFSD8 NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) SNV Likely pathogenic 162378 rs150418024 GRCh37: 4:128843111-128843111
GRCh38: 4:127921956-127921956
7 MFSD8 NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile) SNV Uncertain significance 206156 rs755384900 GRCh37: 4:128854140-128854140
GRCh38: 4:127932985-127932985
8 MFSD8 NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) SNV Uncertain significance 206153 rs200591471 GRCh37: 4:128861029-128861029
GRCh38: 4:127939874-127939874
9 MFSD8 NM_152778.3(MFSD8):c.5C>T (p.Ala2Val) SNV Uncertain significance 626139 rs867524398 GRCh37: 4:128886284-128886284
GRCh38: 4:127965129-127965129
10 MFSD8 NM_152778.3(MFSD8):c.343G>A (p.Val115Met) SNV Uncertain significance 206147 rs183450731 GRCh37: 4:128865003-128865003
GRCh38: 4:127943848-127943848

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

72
# 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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