MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Macular dystrophy, retinal, 1, North Carolina type (C537835)
Child Nodes:
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 Fran莽ois (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)
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:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C537835
MeSH: C537835
OMIM: 136550;
MSeqDR :
Genes: MCDR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008002	Abnormality of macular pigmentation
3	HP:0000603	Central scotoma
4	HP:0011510	Drusen
5	HP:0002909	Generalized aminoaciduria
6	HP:0007754	Macular dystrophy
7	HP:0200070	Peripheral retinal atrophy
8	HP:0007663	Reduced visual acuity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	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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