Disease Browser
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Parent Node:
Corneal Dystrophies, Hereditary (D003317) | ..Starting node .. Macular dystrophy, retinal, 1, North Carolina type (C537835)
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Sister Nodes: | .. Bietti Crystalline Dystrophy (C535440)
| .. Brachymesomelia renal syndrome (C537096)
| .. Chorioretinal atrophy, progressive bifocal (C535356)
| .. Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
| .. Corneal cerebellar syndrome (C535472)
| .. Corneal Degeneration, Ribbonlike, with Deafness (C565157)
| .. Corneal dystrophy and perceptive deafness (C535473)
| .. Corneal dystrophy Avellino type (C535474)
| .. Corneal dystrophy of Bowman layer, type 1 (C535476)
| .. Corneal Dystrophy, Band-Shaped (C562399)
| .. Corneal Dystrophy, Central Type (C563262)
| .. Corneal Dystrophy, Congenital Stromal (C566452)
| .. Corneal Dystrophy, Crystalline, of Schnyder (C535475)
| .. Corneal Dystrophy, Endothelial, X-Linked (C567587)
| .. Corneal Dystrophy, Fleck (C563256)
| .. Corneal dystrophy, gelatinous drop-like (C535480)
| .. Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
| .. Corneal Dystrophy, Lattice Type IIIA (C563923)
| .. Corneal Dystrophy, Lisch Epithelial (C567588)
| .. Corneal Dystrophy, Posterior Amorphous (C567546)
| .. Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
| .. Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
| .. Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
| .. Corneal Dystrophy, Subepithelial Mucinous (C567547)
| .. Corneal dystrophy, Thiel-Behnke type (C535942)
| .. Corneal Endothelial Dystrophy 1 (C565156)
| .. Corneal endothelial dystrophy type 2 (C536439)
| .. Corneodermatoosseous syndrome (C536444)
| .. Dermochondrocorneal dystrophy of Franč½ois (C535375)
| .. EDICT SYNDROME (OMIM:614303)
| .. Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
| .. Epithelial Recurrent Erosion Dystrophy (C565155)
| .. Fuchs' Endothelial Dystrophy (D005642) 10
| .. Groenouw type I corneal dystrophy (C537304)
| .. Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
| .. Judge Misch Wright syndrome (C537692)
| .. Kuster Majewski Hammerstein syndrome (C538125)
| .. Lattice corneal dystrophy type 1 (C537881)
| .. Macular Corneal Dystrophy, Type II (C563270)
| .. Macular dystrophy, corneal type 1 (C537834)
| .. Macular Dystrophy, Fenestrated Sheen Type (C563607)
| .. Macular dystrophy, retinal, 1, North Carolina type (C537835)
| .. Macular Dystrophy, Retinal, 2 (C562746)
| .. Meretoja syndrome (C537459)
| .. MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
| .. Mousa Al din Al Nassar syndrome (C536989)
| .. O'Donnell Pappas syndrome (C537858)
| .. Oculodental syndrome Rutherfurd syndrome (C537732)
| .. Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
| .. Sammartino De Crecchio Syndrome (C537229)
| .. Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
| .. Sveinsson Chorioretinal Atrophy (C566236)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 7334 |
Name: | Macular dystrophy, retinal, 1, North Carolina type |
Definition: | |
Alternative IDs: | OMIM:136550 |
ParentIDs: | MESH:D003317 |
TreeNumbers: | C11.204.236/C537835 |C11.270.162/C537835 |C16.320.290.162/C537835 |
Synonyms: | CAPED |Central areolar pigment epithelial dystrophy |Foveal dystrophy, progressive |FOVEAL DYSTROPHY, PROGRESSIVE, FORMERLY |MCDR1 |NCMD |North carolina macular dystrophy |Retinal pigment epithelial dystrophy, central |
Slim Mappings: | Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: C537835
MeSH: C537835
OMIM: 136550; MSeqDR : Genes: MCDR1; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000006.11:g.100041040C>T | 111365204 | LOC111365204 | Pathogenic | rs1554264616 | RCV000515478; | N | MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327 | 6 | 100041040 | 100041040 | | | 6:g.100041040C>T | ClinGen:CA658653778,OMIM:616842.0003 | C0730294 136550 North Carolina macular dystrophy; | | NC_000006.11:g.100046783A>C | 111365204 | LOC111365204 | Pathogenic | rs1008984719 | RCV000787351|RCV001290013; | N | MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327; MONDO:MONDO:0010932,MedGen:C1833321,OMIM:600790, Orphanet:75373|MONDO:MONDO:0010932,MedGen:C1833321,OMIM:600790, Orphanet:75373 | 6 | 100046783 | 100046783 | | | 6:g.100046783A>C | OMIM:616842.0005 | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | | NC_000006.11:g.100040906G>T | -1 | LOC111365204;PRDM13 | Pathogenic | rs1554264612 | RCV000515486|RCV001387546; | N | MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327|MedGen:CN517202 | 6 | 100040906 | 100040906 | | | 6:g.100040906G>T | ClinGen:CA658653776,OMIM:616842.0001 | C0730294 136550 North Carolina macular dystrophy; | | NC_000006.12:g.99593098A>C | -1 | LOC111365204;PRDM13 | Pathogenic/Likely pathogenic | rs1583607800 | RCV001003125|RCV001290014; | N | |MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327 | 6 | 100040974 | 100040974 | | | 6:g.100040974A>C | OMIM:616842.0006 | | | NC_000006.11:g.100040987G>C | -1 | LOC111365204;PRDM13 | Pathogenic | rs1554264613 | RCV000515497|RCV001268365; | N | MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327|MedGen:CN517202 | 6 | 100040987 | 100040987 | | | 6:g.100040987G>C | ClinGen:CA658653777,OMIM:616842.0002 | C0730294 136550 North Carolina macular dystrophy; | | NM_021620.4(PRDM13):c.1714G>A (p.Gly572Ser) | 59336 | PRDM13 | Uncertain significance | -1 | RCV001591823; | N | MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327 | 6 | 100062225 | 100062225 | | | 100062225 | - | | |
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