MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandCorneal Dystrophies, Hereditary (D003317)
..Starting node
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson Chorioretinal Atrophy (C566236)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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 LSDB:  
Genes: MCDR1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0008002Abnormality of macular pigmentation
3 HP:0000603Central scotoma
4 HP:0011510Drusen
5 HP:0002909Generalized aminoaciduria
6 HP:0007754Macular dystrophy
7 HP:0200070Peripheral retinal atrophy
8 HP:0007663Reduced visual acuity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000006.12:g.99593164C>T111365204LOC111365204Pathogenic1554264616RCV000515478; NMONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:753276100041040100041040ClinGen:CA658653778,OMIM:616842.0003C0730294 136550 North Carolina macular dystrophy;
NC_000006.12:g.99598907A>C111365204LOC111365204Pathogenic1008984719RCV000787351|RCV001290013; NMONDO: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:753736100046783100046783OMIM:616842.0005C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000006.12:g.99593030G>T-1LOC111365204;PRDM13Pathogenic1554264612RCV000515486|RCV001387546; NMONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327|MedGen:CN5172026100040906100040906ClinGen:CA658653776,OMIM:616842.0001C0730294 136550 North Carolina macular dystrophy;
NC_000006.12:g.99593098A>C-1LOC111365204;PRDM13Pathogenic/Likely pathogenic1583607800RCV001003125|RCV001290014; N|MONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:7532761000409741000409746:g.100040974A>COMIM:616842.0006
NC_000006.12:g.99593111G>C-1LOC111365204;PRDM13Pathogenic1554264613RCV000515497|RCV001268365; NMONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:75327|MedGen:CN5172026100040987100040987ClinGen:CA658653777,OMIM:616842.0002C0730294 136550 North Carolina macular dystrophy;
NM_021620.4(PRDM13):c.1714G>A (p.Gly572Ser)59336PRDM13Uncertain significance755465077RCV001591823; NMONDO:MONDO:0007630,MedGen:C0730294,OMIM:136550, Orphanet:753276100062225100062225100062225-
MSeqDR Portal