MCID: MCL069
MIFTS: 35

Macular Dystrophy, Retinal, 1, North Carolina Type

Categories: Genetic diseases, Rare diseases, Eye 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
North Carolina Macular Dystrophy 57 53 59 29 6 73
Central Areolar Pigment Epithelial Dystrophy 57 53 59
Mcdr1 57 53 59
Caped 57 53 59
Ncmd 57 53 59
Macular Dystrophy, North Carolina Type 57 13
Central Areolar Pigment Epithelial Dystrophy; Caped 57
Macular Dystrophy Retinal 1 North Carolina Type 53
Retinal Pigment Epithelial Dystrophy, Central 57
Retinal Pigment Epithelial Dystrophy Central 53
Central Retinal Pigment Epithelial Dystrophy 59
North Carolina Macular Dystrophy, Retinal 1 59
Foveal Dystrophy, Progressive, Formerly 57
North Carolina Macular Dystrophy; Ncmd 57
Foveal Dystrophy Progressive 53
Progressive Foveal Dystrophy 59
Cape Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
north carolina macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

57
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:

32
macular dystrophy, retinal, 1, north carolina type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 136550
Orphanet 59 ORPHA75327
MESH via Orphanet 45 C537835
UMLS via Orphanet 74 C0730294
ICD10 via Orphanet 34 H35.5
MedGen 42 C0730294
UMLS 73 C0730294

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

NIH Rare Diseases : 53 North Carolina macular dystrophy (NCMD) is an inheritedeye 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 syringomyelia. An important gene associated with Macular Dystrophy, Retinal, 1, North Carolina Type is DHS6S1 (Macular Dystrophy, North Carolina Type). Affiliated tissues include eye, retina and testes, and related phenotypes are reduced visual acuity and central scotoma

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)

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:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 chorioretinal atrophy, progressive bifocal 11.3
2 syringomyelia 11.0
3 retinitis 10.1
4 chorioretinitis 9.9
5 fetal alcohol syndrome 9.9
6 breast cancer 9.9
7 achromatopsia 9.8
8 aging 9.8
9 hepatitis 9.8
10 cysticercosis 9.8
11 porphyria 9.8
12 cleidocranial dysplasia 9.7
13 porphyria variegata 9.7
14 malaria 9.7
15 crohn's disease 9.7
16 hepatitis b 9.7
17 siderosis 9.7
18 pre-eclampsia 9.7
19 giardiasis 9.7
20 hypospadias 9.7
21 myiasis 9.7
22 shigellosis 9.7
23 kwashiorkor 9.7
24 eclampsia 9.7
25 vaginitis 9.7
26 measles 9.7
27 meningitis 9.7
28 colorectal cancer 9.5
29 hepatocellular carcinoma 9.5
30 spondyloepiphyseal dysplasia with congenital joint dislocations 9.5
31 porphyria, acute intermittent 9.5
32 rheumatoid arthritis 9.5
33 neural tube defects 9.5
34 down syndrome 9.5
35 anencephaly 9.5
36 lung cancer 9.5
37 cystic fibrosis 9.5
38 focal epithelial hyperplasia, oral 9.5
39 galactosemia 9.5
40 hypospadias-mental retardation syndrome 9.5
41 tardive dyskinesia 9.5
42 cardiomyopathy, dilated, 1b 9.5
43 muscular dystrophy, congenital, 1b 9.5
44 body mass index quantitative trait locus 1 9.5
45 alpha-1-antitrypsin deficiency 9.5
46 membranous nephropathy 9.5
47 alacrima, achalasia, and mental retardation syndrome 9.5
48 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.5
49 alcohol abuse 9.5
50 arthritis 9.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 central scotoma 32 HP:0000603
3 abnormality of macular pigmentation 32 HP:0008002
4 macular dystrophy 32 HP:0007754
5 generalized aminoaciduria 32 HP:0002909
6 peripheral retinal atrophy 32 HP:0200070
7 drusen 32 HP:0011510

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

Search Clinical Trials , 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 DHS6S1

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

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

41
Eye, Retina, Testes

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

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

(show all 35)
# Title Authors Year
1
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. ( 28790370 )
2017
2
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype. ( 28973654 )
2017
3
Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy. ( 26707433 )
2016
4
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. ( 27777503 )
2016
5
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. ( 26507665 )
2015
6
Macular caldera in North Carolina macular dystrophy--reply. ( 24921180 )
2014
7
Macular caldera in North Carolina macular dystrophy: only an illusion of posterior pole staphyloma. ( 24921177 )
2014
8
Intrachoroidal cavitation in North Carolina macular dystrophy. ( 23681481 )
2013
9
Thirty-Year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy). ( 21310494 )
2011
10
Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. ( 21179233 )
2010
11
A reappraisal of the clinical spectrum of North Carolina macular dystrophy. ( 19616854 )
2009
12
Clinical characterization and genetic mapping of North Carolina macular dystrophy. ( 17976682 )
2008
13
Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy. ( 17913524 )
2007
14
A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy. ( 17302207 )
2006
15
Perifoveal function in patients with North Carolina macular dystrophy: the importance of accounting for fixation locus. ( 16565412 )
2006
16
Comprehensive functional vision assessment of patients with North Carolina macular dystrophy (MCDR1). ( 15933597 )
2005
17
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. ( 12714659 )
2003
18
North Carolina macular dystrophy: clinicopathologic correlation. ( 11797312 )
2001
19
North Carolina macular dystrophy: clinicopathologic correlation. ( 11730667 )
2001
20
North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. ( 10617775 )
1999
21
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). ( 9719369 )
1998
22
North Carolina macular dystrophy (MCDR1) in Texas. ( 9801042 )
1998
23
North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis. ( 10360311 )
1998
24
A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. ( 9559736 )
1998
25
Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. ( 9924305 )
1998
26
Macular function testing in a German pedigree with North Carolina macular dystrophy. ( 9801043 )
1998
27
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. ( 9439376 )
1997
28
North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. ( 9238090 )
1997
29
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). ( 9429134 )
1997
30
Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. ( 7864750 )
1995
31
North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. ( 8015785 )
1993
32
North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. ( 1562260 )
1992
33
North Carolina macular dystrophy is assigned to chromosome 6. ( 1639395 )
1992
34
North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. ( 1685483 )
1991
35
North Carolina macular dystrophy, revisited. ( 2622620 )
1989

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LOC111365204 NC_000006.12: g.99593030G> T single nucleotide variant Pathogenic GRCh37 Chromosome 6, 100040906: 100040906
2 LOC111365204 NC_000006.12: g.99593030G> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 99593030: 99593030
3 LOC111365204 NC_000006.12: g.99593111G> C single nucleotide variant Pathogenic GRCh37 Chromosome 6, 100040987: 100040987
4 LOC111365204 NC_000006.12: g.99593111G> C single nucleotide variant Pathogenic GRCh38 Chromosome 6, 99593111: 99593111
5 LOC111365204 NC_000006.12: g.99593164C> T single nucleotide variant Pathogenic GRCh37 Chromosome 6, 100041040: 100041040
6 LOC111365204 NC_000006.12: g.99593164C> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 99593164: 99593164

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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