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 ..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
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:

3030

Name:

Corneal Dystrophy, Posterior Polymorphous, 1

Definition:

Alternative IDs:

DO:DOID:0060457|OMIM:122000

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C562745 |C11.270.162/C562745 |C16.320.290.162/C562745

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C562745
MeSH: C562745
OMIM: 122000;
MSeqDR :
Genes: VSX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011483	Anterior synechiae of the anterior chamber
3	HP:0000585	Band keratopathy
4	HP:0009918	Ectopia pupillae	HP:0040283
5	HP:0009926	Epiphora
6	HP:0000501	Glaucoma
7	HP:0001089	Iris atrophy	HP:0040283
8	HP:0000613	Photophobia
9	HP:0007915	Polymorphous posterior corneal dystrophy
10	HP:0031159	Thinning of Descemet membrane	HP:0040283
11	HP:0025358	Uveal ectropion

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_021220.4(OVOL2):c.512-4T>G	58495	OVOL2	Benign	2281543	RCV001788860\|RCV002077217;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973\|MedGen:C3661900	20	18005600	18005600	18005600	-
NM_021220.4(OVOL2):c.511+7G>A	58495	OVOL2	Benign	1571431	RCV001534659\|RCV001788581;	N	MedGen:C3661900\|Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	20	18022171	18022171	18022171	-
NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)	58495	OVOL2	Uncertain significance	-1	RCV002678357\|RCV003130868;	N	MeSH:D030342,MedGen:C0950123\|Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	20	18037369	18037369	NC_000020.10:g.18037369C>G	-
NM_021220.4(OVOL2):c.-274T>G	58495	OVOL2	Pathogenic	869320630	RCV000210412;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	20	18038552	18038552	NC_000020.10:g.18038552A>C	ClinGen:CA358740,OMIM:616441.0004	CN029625 122000 Posterior polymorphous corneal dystrophy 1;
NM_001303461.1(OVOL2):c.-297+949T>C	58495	OVOL2	Pathogenic	869320629	RCV000210427;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	20	18038585	18038585	20:g.18038585A>G	ClinGen:CA358742,OMIM:616441.0003	CN029625 122000 Posterior polymorphous corneal dystrophy 1;
NM_001303461.1(OVOL2):c.-297+895_-297+916dup	58495	OVOL2	Pathogenic	869320627	RCV000210432;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	20	18038617	18038618	20:g.18038617_18038618insCCGGTTCCGGCGGCCGGGGCTG	ClinGen:CA358743,OMIM:616441.0001	CN029625 122000 Posterior polymorphous corneal dystrophy 1;
NM_001303461.1(OVOL2):c.-297+886T>C	58495	OVOL2	Pathogenic	869320628	RCV000210419;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	20	18038648	18038648	NC_000020.10:g.18038648A>G	ClinGen:CA358741,OMIM:616441.0002	CN029625 122000 Posterior polymorphous corneal dystrophy 1;
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)	83959	SLC4A11	Conflicting interpretations of pathogenicity	34224785	RCV001276999\|RCV000991066\|RCV002265913\|RCV001143497\|RCV000948021;	N	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490\|Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C00	20	3208967	3208967	20:g.3208967C>T	-
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)	30813	VSX1	Conflicting interpretations of pathogenicity	74315433	RCV000005560\|RCV000358879\|RCV000454465\|RCV002054416;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973\|Human Phenotype Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000, Orphanet:98973\|MedGen:CN169374\|MedGen:C3661900	20	25060096	25060096	20:g.25060096C>T	ClinGen:CA117355,UniProtKB:Q9NZR4#VAR_014245,OMIM:605020.0002	CN169374 not specified;
NM_001174096.2(ZEB1):c.688-1G>A	6935	ZEB1	Likely pathogenic	2139622959	RCV002272489;	N	Gene:8197,MONDO:MONDO:0007378,MedGen:C1852555,OMIM:122000, Orphanet:98973	10	31803530	31803530	31803530	-

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