MCDR1
MCID: MCL069
MIFTS: 38

Macular Dystrophy, Retinal, 1, North Carolina Type (MCDR1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 1, North Carolina Type

MalaCards integrated aliases for Macular Dystrophy, Retinal, 1, North Carolina Type:

Name: Macular Dystrophy, Retinal, 1, North Carolina Type 57 13
North Carolina Macular Dystrophy 57 20 58 29 6 70
Central Areolar Pigment Epithelial Dystrophy 57 20 58
Mcdr1 57 20 58
Caped 57 20 58
Ncmd 57 20 58
Central Areolar Pigment Epithelial Dystrophy; Caped 57
Macular Dystrophy Retinal 1 North Carolina Type 20
Retinal Pigment Epithelial Dystrophy, Central 57
Retinal Pigment Epithelial Dystrophy Central 20
Central Retinal Pigment Epithelial Dystrophy 58
North Carolina Macular Dystrophy, Retinal 1 58
Macular Dystrophy 1, North Carolina Type 57
Foveal Dystrophy, Progressive, Formerly 57
North Carolina Macular Dystrophy; Ncmd 57
Foveal Dystrophy Progressive 20
Progressive Foveal Dystrophy 58
Cape Dystrophy 58

Characteristics:

Orphanet epidemiological data:

58
north carolina macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset, from first decade to fourth or fifth decade of life
highly variable expressivity within families
visual acuity better than anticipated from ophthalmoscopic appearance
disease is nonprogressive in most patients


HPO:

31
macular dystrophy, retinal, 1, north carolina type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 136550
MESH via Orphanet 45 C537835
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0730294
Orphanet 58 ORPHA75327
MedGen 41 C0730294
UMLS 70 C0730294

Summaries for Macular Dystrophy, Retinal, 1, North Carolina Type

GARD : 20 North Carolina macular dystrophy (NCMD) is an inherited eye disorder that affects the development of the macula, the small, but important part of the eye located in the center of the retina. The macula allows a person to see fine details and do tasks that require central vision, such as reading and driving. It is also important for seeing colors. The severity of changes in the development of the macula varies, causing some people to have little or no vision loss, while others may have severe vision loss. NCMD is considered non-progressive, which means most researchers believe the vision loss does not change after birth. Others believe it may progress slowly through age twelve. However, vision loss may increase if complications develop, such as new, abnormal blood vessels growing under the retina (choroidal neovascularization). NCMD is caused by changes ( mutations ) in a region of chromosome 6 (MCDR1 locus ), as well as in a region of chromosome 5 (MCDR3 locus). Although there is no cure for NCMD, treatment may include low vision aids such as glasses with high powered lenses, large print reading material, and computer software that can turn text into speech.

MalaCards based summary : Macular Dystrophy, Retinal, 1, North Carolina Type, also known as north carolina macular dystrophy, is related to chorioretinal atrophy, progressive bifocal and macular dystrophy, retinal, 3. An important gene associated with Macular Dystrophy, Retinal, 1, North Carolina Type is LOC111365204 (CCNC And PRDM13 Intergenic Region DNase I Hypersensitve Site DHS6S1). The drugs Aspirin and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and colon, and related phenotypes are reduced visual acuity and abnormality of macular pigmentation

OMIM® : 57 North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by Small, 1998). (136550) (Updated 20-May-2021)

Related Diseases for Macular Dystrophy, Retinal, 1, North Carolina Type

Diseases related to Macular Dystrophy, Retinal, 1, North Carolina Type via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 31, show less)
# Related Disease Score Top Affiliating Genes
1 chorioretinal atrophy, progressive bifocal 30.6 MCDR1 LOC111365204
2 macular dystrophy, retinal, 3 10.5
3 macular degeneration, age-related, 1 10.2
4 aminoaciduria 10.2
5 yemenite deaf-blind hypopigmentation syndrome 10.1
6 macular dystrophy, retinal, 2 10.1
7 suppression amblyopia 10.1
8 amblyopia 10.1
9 alternating exotropia 10.1
10 exotropia 10.1
11 allergic disease 10.1
12 retinal drusen 10.1
13 scotoma 10.1
14 ocular toxoplasmosis 10.1
15 pattern dystrophy 10.1
16 stargardt disease 3 10.0
17 cone dystrophy 10.0
18 achromatopsia 10.0
19 coloboma of macula 9.9
20 cone-rod dystrophy 2 9.9
21 retinitis pigmentosa 9.9
22 retinitis pigmentosa 25 9.9
23 cone-rod dystrophy 7 9.9
24 neuroretinitis 9.9
25 congenital toxoplasmosis 9.9
26 retinal vein occlusion 9.9
27 central retinal vein occlusion 9.9
28 retinitis 9.9
29 retinal disease 9.9
30 toxoplasmosis 9.9
31 stargardt macular degeneration 9.9

Graphical network of the top 20 diseases related to Macular Dystrophy, Retinal, 1, North Carolina Type:



Diseases related to Macular Dystrophy, Retinal, 1, North Carolina Type

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 1, North Carolina Type

Human phenotypes related to Macular Dystrophy, Retinal, 1, North Carolina Type:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 abnormality of macular pigmentation 31 HP:0008002
3 macular dystrophy 31 HP:0007754
4 generalized aminoaciduria 31 HP:0002909
5 central scotoma 31 HP:0000603
6 drusen 31 HP:0011510
7 peripheral retinal atrophy 31 HP:0200070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
decreased visual acuity
progressive visual deterioration (in some patients)
central scotomata
drusen-like deposits in central macular region
disciform scars in macula (in some patients)
more

Clinical features from OMIM®:

136550 (Updated 20-May-2021)

Drugs & Therapeutics for Macular Dystrophy, Retinal, 1, North Carolina Type

Drugs for Macular Dystrophy, Retinal, 1, North Carolina Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 66, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
3
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
4 Fibrinolytic Agents Phase 4
5 Antirheumatic Agents Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Analgesics Phase 4
8 Platelet Aggregation Inhibitors Phase 4
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4
10 Cyclooxygenase Inhibitors Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Antipyretics Phase 4
13 Anti-Retroviral Agents Phase 4
14 Reverse Transcriptase Inhibitors Phase 4
15 Anti-HIV Agents Phase 4
16 Anti-Infective Agents Phase 4
17 Antiviral Agents Phase 4
18 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
19
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
20
Fluorouracil Approved Phase 3 51-21-8 3385
21
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
22
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
23
Raltitrexed Approved, Investigational Phase 3 112887-68-0 104758
24
leucovorin Approved Phase 3 58-05-9 6006
25
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
27
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
28 Antimetabolites Phase 3
29 Folic Acid Antagonists Phase 3
30 Antidotes Phase 3
31 Vitamin B9 Phase 3
32 Folate Phase 3
33 Vitamin B Complex Phase 3
34 Protective Agents Phase 3
35 Micronutrients Phase 3
36 Trace Elements Phase 3
37 Nutrients Phase 3
38 Hormones Phase 3
39 Vitamins Phase 3
40 Calcium, Dietary Phase 3
41 Calciferol Phase 3
42
Calcium Nutraceutical Phase 3 7440-70-2 271
43
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
44
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
45 topoisomerase I inhibitors Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Cola Phase 2
48
BCG vaccine Approved, Investigational Phase 1
49 Vaccines Phase 1
50
Ethanol Approved 64-17-5 702
51
Nevirapine Approved 129618-40-2 4463
52
Copper Approved, Investigational 7440-50-8 27099
53
Levonorgestrel Approved, Investigational 797-63-7, 17489-40-6 13109
54
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
55
Adalimumab Approved, Experimental 331731-18-1 16219006
56
Aspartic acid Approved, Nutraceutical 56-84-8 5960
57 Tea
58 Contraceptives, Oral
59 Contraceptive Agents
60 Copper Supplement
61 N-Methylaspartate
62 Immunoglobulins
63 Antibodies
64 Anesthetics
65 Immunosuppressive Agents
66
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:

(showing 34, show less)
# Name Status NCT ID Phase Drugs
1 COMT on Aspirin Platelets Effects (CAPE) Recruiting NCT03433586 Phase 4 Aspirin 81 mg;Placebo
2 Evaluation of Pre-exposure Prophylaxis Cascade in Pregnant and Breastfeeding Women in Cape Town, South Africa (Formative Study) Active, not recruiting NCT03826199 Phase 4 TDF-FTC
3 Resource-Sparing Curative Treatment for Rectal Cancer Unknown status NCT01459328 Phase 3
4 Women-Focused HIV Prevention in the Western Cape Completed NCT00729391 Phase 2, Phase 3
5 Multicenter, Randomized Controlled Trial Designed to Evaluate the Efficacy and Safety of Adjuvant Hyperthermic Intraperitoneal Chemotherapy (HIPEC) With Raltitrexed or Oxaliplatin Versus no HIPEC in Locally Advanced Colorectal Cancer (APEC Study) Recruiting NCT02965248 Phase 3 Standard adjuvant systemic chemotherapy
6 Trial of Vitamin D Supplementation in Cape Town Primary Schoolchildren Active, not recruiting NCT02880982 Phase 3
7 A Fixed-Sequence, Open-Label Study to Determine the Activity of SCH 717454 as Assessed by Positron Emission Tomography in Subjects With Relapsed or Recurrent Colorectal Cancer Completed NCT00551213 Phase 2 Irinotecan;Capecitabine;FOLFOX;CAPEOX/XELOX;FOLFIRI
8 Post-surgical Liquid Biopsy-guided Treatment of Stage III and High-risk Stage II Colon Cancer Patients Recruiting NCT04259944 Phase 2 CAPOX;Capecitabine;FOLFIRI
9 A Phase II Study of Total Neoadjuvant Chmoradiation Treatment Plus SHR1210 for High-risk Locally Advanced Rectal Cancer and Biomarker Screening Base on Neoantigen Recruiting NCT04340401 Phase 2 SHR-1210;Oxaliplatin;Capecitabine
10 Study of Outcome With an Intervention From the Cape Cod Model of Psychotherapy for Subjects in a Behavioral Crisis and With the Diagnosis of Borderline Personality Disorder (BPD) or Post-Traumatic Stress Disorder (PTSD) Unknown status NCT00269139 Phase 1
11 A Phase I Study Evaluating the Safety and Immunogenicity of a New TB Vaccine MVA85A, in Healthy Volunteers With no Evidence of Infection With Mycobacterium Tuberculosis, in Cape Town Completed NCT00460590 Phase 1
12 Modified Endotracheal Balloon Dilator to Improve Oxygenation During Airway Procedures in Children With Tracheal Stenosis Unknown status NCT03411928
13 Pregnancy-Related Obesity Prevention Through Education & Communication Technology in AFRICA:The PROTECT-AFRICA STUDY Unknown status NCT01948323
14 Feasibility of Using the Inverness Lateral Flow Urine LAM Test for Diagnosis of Tuberculosis in HIV-Positive TB Suspects in Cape Town, South Africa Unknown status NCT01693224
15 The Classroom Communication Resource (CCR) Intervention to Change Grade 7 Peer's Attitudes Towards Children Who Stutter (CWS) in the Western Cape: A Protocol for a Cluster-Randomised Controlled Trial Unknown status NCT03111524
16 A Non-randomized Comparative Cohort Study Evaluating a Home-based Community Health Worker Program in the Rural Eastern Cape Province of South Africa Completed NCT03517878
17 Postpartum Adherence Clubs to Enhance Support: the PACER Study Completed NCT02417675
18 Correlation of Phonation With Deglutition and Aspiration Risk in the ICU Patients - an Exploratory Study Completed NCT01011803
19 Coping With Loss: A Bereavement Initiative for Adolescent Girls in the Free State, South Africa Completed NCT02368808
20 Coordinated Healthcare Interventions for Childhood Asthma Gaps in Outcomes (CHICAGO Plan) Completed NCT02319967
21 Randomized Trial of a Brief HIV Risk Reduction Counseling Intervention for Sexually Transmitted Infections Clinic Patients in Cape Town, South Africa Completed NCT01242501
22 Comparison of Two IUDs Among Cape Town HIV-positive Women: A Randomized Controlled Trial Assessing Safety of Registered Products in South Africa Completed NCT01721798
23 Seek, Test, Treat, & Retain Pilot for Out of School Teens at Risk in Cape Town Completed NCT02677025
24 A Cross-sectional Study on Intradialytic Hypertension at Four Haemodialysis Units in the Western Cape, South Africa Completed NCT01916668
25 A Multicentre, Observational, Cross-sectional Study to Assess the Seroprevalence of Anti-Tat Antibodies in HIV-infected Patients in Selected Areas of Gauteng and Eastern Cape Completed NCT01359800
26 The Effectiveness of Two Promising Interventions for Reducing HIV Risk and Improving the Wellbeing of Orphaned and Vulnerable Adolescents in the Eastern Cape of South Africa Completed NCT02386878
27 Enhanced Surveillance and 2 Year Outcomes of Children Enrolled on Antiretroviral Therapy (ART) in Public Health Facilities in the Eastern Cape Province, South Africa Completed NCT02043769
28 A Multicentre Cross-sectional Study of the Prevalence of Hypertensive Disease in Patients Presenting for Elective Surgery in the Western Cape Completed NCT03157661
29 Impact of Decentralization on Retention of Pediatric Patients Initiated on ART at a Large Referral Hospital in Eastern Cape, South Africa Completed NCT03049891
30 Comparison of Two ECG Guided PICC Insertion Techniques, a Randomized Controlled Trial Recruiting NCT04466332
31 Total Neoadjuvant Therapy Followed by 'Watch and Wait' Approach or Organ Preservation for MRI Stratified Low-risk Rectal Cancer: a Multi-center, Prospective, Single-arm Phase II Trial. Recruiting NCT04405206 Oxaliplatin;Capecitabine
32 Prospective Evaluation of 1.3-ß-D-glucan in the Peritoneal Fluid for the Diagnosis of Fungal Peritonitis in Critically Ill Patients Recruiting NCT03997929
33 A Long-Term Non-Interventional Postmarketing Study to Assess Safety and Effectiveness of Humira® (Adalimumab) in Pediatric Patients With Moderately to Severely Active Crohn's Disease (CD) - CAPE Active, not recruiting NCT02130362
34 A Randomised Controlled Trial of an Integrated Post-discharge Transitional Care Package for General Medical In-patients in Cape Town, South Africa Withdrawn NCT01916876

Search NIH Clinical Center for Macular Dystrophy, Retinal, 1, North Carolina Type

Genetic Tests for Macular Dystrophy, Retinal, 1, North Carolina Type

Genetic tests related to Macular Dystrophy, Retinal, 1, North Carolina Type:

# Genetic test Affiliating Genes
1 North Carolina Macular Dystrophy 29 LOC111365204

Anatomical Context for Macular Dystrophy, Retinal, 1, North Carolina Type

MalaCards organs/tissues related to Macular Dystrophy, Retinal, 1, North Carolina Type:

40
Eye, Retina, Colon, Endothelial

Publications for Macular Dystrophy, Retinal, 1, North Carolina Type

Articles related to Macular Dystrophy, Retinal, 1, North Carolina Type:

(showing 71, show less)
# Title Authors PMID Year
1
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. 61 20 57 6
26507665 2016
2
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. 61 57 6
28790370 2017
3
North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. 57 61 6
10617775 1999
4
Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. 57 61 6
9924305 1998
5
North Carolina macular dystrophy (MCDR1) in Texas. 57 61 6
9801042 1998
6
North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. 6 57 61
9238090 1997
7
Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy. 6 57
27551809 2017
8
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant. 6 61
32476814 2020
9
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype. 61 57
28973654 2017
10
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. 61 57
27777503 2016
11
Thirty-Year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy). 61 57
21310494 2011
12
Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. 61 57
12812894 2003
13
North Carolina macular dystrophy: clinicopathologic correlation. 61 57
11730667 2001
14
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). 57 61
9719369 1998
15
A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. 57 61
9559736 1998
16
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. 61 57
9439376 1997
17
Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. 57 61
7864750 1995
18
North Carolina macular dystrophy is assigned to chromosome 6. 57 61
1639395 1992
19
North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. 61 57
1562260 1992
20
North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. 61 57
1685483 1991
21
North Carolina's dominant progressive foveal dystrophy: how progressive is it? 61 57
1854692 1991
22
North Carolina macular dystrophy, revisited. 61 57
2622620 1989
23
Genetic linkage studies of a North Carolina macular dystrophy family. 61 20
27496188 2016
24
A reappraisal of the clinical spectrum of North Carolina macular dystrophy. 61 20
19616854 2009
25
The variable expressivity of a family with central areolar pigment epithelial dystrophy. 57
8600416 1996
26
Central areolar pigment epithelial dystrophy. 57
6472809 1984
27
Autosomal dominant central pigment epithelial and choroidal degeneration. 57
7162784 1982
28
An inherited central retinal pigment epithelial dystrophy. 57
7171762 1982
29
Central areolar pigment epithelial dystrophy. 57
937428 1976
30
A new dominant progressive foveal dystrophy. 57
4440724 1974
31
Hereditary macular degeneration and amino-aciduria. 57
5100467 1971
32
North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression. 61
33785507 2021
33
Choroidal Cavitary Disorders. 61
32982154 2020
34
Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1). 61
31367689 2019
35
Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. 61
31043363 2019
36
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. 61
30710461 2019
37
[North Carolina macular dystrophy: A case report]. 61
30683538 2019
38
Case report: North Carolina macular dystrophy misdiagnosed as congenital ocular toxoplasmosis. 61
31814698 2019
39
Ranibizumab for the treatment of choroidal neovascularization due to cause other than age related macular degeneration. 61
31779462 2019
40
CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY. 61
30383557 2018
41
Large choroidal excavation in a patient with rubella retinopathy. 61
29077180 2018
42
North Carolina Macular Dystrophy. 61
30578494 2018
43
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. 61
28635424 2017
44
Benign Yellow Dot Maculopathy: A New Macular Phenotype. 61
28366503 2017
45
Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy. 61
26707433 2016
46
Macular caldera in North Carolina macular dystrophy: only an illusion of posterior pole staphyloma. 61
24921177 2014
47
Macular caldera in North Carolina macular dystrophy--reply. 61
24921180 2014
48
Intrachoroidal cavitation in North Carolina macular dystrophy. 61
23681481 2013
49
Multimodal imaging in hereditary retinal diseases. 61
23710333 2013
50
Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy. 61
21705682 2011
51
Treatment of non-age-related macular degeneration submacular diseases with macular translocation surgery. 61
21487342 2011
52
Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. 61
21179233 2010
53
Spectral-domain optical coherence tomography: a comparison of modern high-resolution retinal imaging systems. 61
20103039 2010
54
Clinical characterization and genetic mapping of North Carolina macular dystrophy. 61
17976682 2008
55
Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy. 61
17913524 2007
56
A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy. 61
17302207 2006
57
Perifoveal function in patients with North Carolina macular dystrophy: the importance of accounting for fixation locus. 61
16565412 2006
58
Comprehensive functional vision assessment of patients with North Carolina macular dystrophy (MCDR1). 61
15933597 2005
59
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. 61
12714659 2003
60
North Carolina macular dystrophy: clinicopathologic correlation. 61
11797312 2001
61
Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. 61
11004295 2000
62
A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. 61
11004294 2000
63
North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis. 61
10360311 1998
64
Macular function testing in a German pedigree with North Carolina macular dystrophy. 61
9801043 1998
65
Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies. 61
9691169 1998
66
[North Carolina macular dystrophy. Hereditary macular disease with good functional prognosis]. 61
9531796 1998
67
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). 61
9429134 1997
68
Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. 61
8643244 1996
69
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. 61
8541856 1995
70
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. 61
8002834 1994
71
North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. 61
8015785 1993

Variations for Macular Dystrophy, Retinal, 1, North Carolina Type

ClinVar genetic disease variations for Macular Dystrophy, Retinal, 1, North Carolina Type:

6 (showing 5, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC111365204 NC_000006.11:g.100041040C>T SNV Pathogenic 446241 rs1554264616 GRCh37: 6:100041040-100041040
GRCh38: 6:99593164-99593164
2 LOC111365204 NC_000006.11:g.100040906G>T SNV Pathogenic 446239 rs1554264612 GRCh37: 6:100040906-100040906
GRCh38: 6:99593030-99593030
3 LOC111365204 NC_000006.11:g.100040987G>C SNV Pathogenic 446240 rs1554264613 GRCh37: 6:100040987-100040987
GRCh38: 6:99593111-99593111
4 LOC111365204 NC_000006.11:g.100046783A>C SNV Pathogenic 625874 rs1008984719 GRCh37: 6:100046783-100046783
GRCh38: 6:99598907-99598907
5 PRDM13 , LOC111365204 NC_000006.12:g.99593098A>C SNV Pathogenic 812377 rs1583607800 GRCh37: 6:100040974-100040974
GRCh38: 6:99593098-99593098

Expression for Macular Dystrophy, Retinal, 1, North Carolina Type

Search GEO for disease gene expression data for Macular Dystrophy, Retinal, 1, North Carolina Type.

Pathways for Macular Dystrophy, Retinal, 1, North Carolina Type

GO Terms for Macular Dystrophy, Retinal, 1, North Carolina Type

Sources for Macular Dystrophy, Retinal, 1, North Carolina Type

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
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