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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

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Disease Browser
Parent Node: Osteoporosis (D010024)
Parent Node: Vitreoretinopathy, Proliferative (D018630)
..Starting node ..Exudative vitreoretinopathy 1 (C536382)
Child Nodes:
Sister Nodes:
..Exudative vitreoretinopathy 1 (C536382)
..EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
..Exudative Vitreoretinopathy 3 (C565297)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4039

Name:

Exudative vitreoretinopathy 1

Definition:

Alternative IDs:

OMIM:133780

ParentIDs:

MESH:D010024|MESH:D018630

TreeNumbers:

C05.116.198.579/C536382 |C11.768.890/C536382 |C11.975/C536382

Synonyms:

Slim Mappings:

Eye disease|Musculoskeletal disease

Reference:

MedGen: C536382
MeSH: C536382
OMIM: 133780;

Genes: FZD4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0000618	Blindness
4	HP:0030490	Exudative vitreoretinopathy
5	HP:0001493	Falciform retinal fold
6	HP:0007685	Peripheral retinal avascularization
7	HP:0001489	Posterior vitreous detachment
8	HP:0002757	Recurrent fractures
9	HP:0007663	Reduced visual acuity
10	HP:0000541	Retinal detachment
11	HP:0001147	Retinal exudate
12	HP:0030666	Retinal neovascularization
13	HP:0003677	Slowly progressive
14	HP:0000523	Subcapsular cataract
15	HP:0007902	Vitreous hemorrhage

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
NM_012193.3(FZD4):c.1501_1502delCT (p.Leu501Serfs)	-1	-	Pathogenic	80358303	RCV000005819;	N	MedGen:C1851402,OMIM:133780	11	86662296	86662297	NM_012193.3:c.1501_1502delCT	NP_036325.2:p.Leu501Serfs	NC_000011.9:g.86662296_86662297delAG	OMIM Allelic Variant:604579.0002	C1851402 133780 Exudative vitreoretinopathy 1
NM_012193.3(FZD4):c.1479_1484delGTGGAT (p.Met493_Trp494del)	-1	-	Pathogenic	80358301	RCV000005818;	N	MedGen:C1851402,OMIM:133780	11	86662314	86662319	NM_012193.3:c.1479_1484delGTGGAT	NP_036325.2:p.Met493_Trp494del	NC_000011.9:g.86662314_86662319delATCCAC	OMIM Allelic Variant:604579.0001	C1851402 133780 Exudative vitreoretinopathy 1
NM_012193.3(FZD4):c.1250G>A (p.Arg417Gln)	-1	-	Pathogenic	80358294	RCV000005820; RCV000005821;	N	MedGen:C1851402,OMIM:133780; MedGen:C1858262	11	86662548	86662548	NM_012193.3:c.1250G>A	NP_036325.2:p.Arg417Gln	NC_000011.9:g.86662548C>T	OMIM Allelic Variant:604579.0003	C1851402 133780 Exudative vitreoretinopathy 1; C1858262 Exudative vitreoretinopathy, digenic
NM_012193.3(FZD4):c.1024A>G (p.Met342Val)	-1	-	Pathogenic	80358293	RCV000005822;	N	MedGen:C1851402,OMIM:133780	11	86662774	86662774	NM_012193.3:c.1024A>G	NP_036325.2:p.Met342Val	NC_000011.9:g.86662774T>C	OMIM Allelic Variant:604579.0004	C1851402 133780 Exudative vitreoretinopathy 1
NM_012193.3(FZD4):c.1005G>C (p.Trp335Cys)	-1	-	Pathogenic	80358292	RCV000005823;	N	MedGen:C1851402,OMIM:133780	11	86662793	86662793	NM_012193.3:c.1005G>C	NP_036325.2:p.Trp335Cys	NC_000011.9:g.86662793C>G	OMIM Allelic Variant:604579.0005	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.-214_-210delGAATC	79797	ZNF408	Uncertain significance	796065313	RCV000190407;	N	MedGen:C1851402,OMIM:133780	11	46722384	46722388	NM_024741.2:c.-214_-210delGAATC		NC_000011.9:g.46722384_46722388delGAATC	-	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.-111C>A	79797	ZNF408	Uncertain significance	796065314	RCV000190408;	N	MedGen:C1851402,OMIM:133780	11	46722487	46722487	NM_024741.2:c.-111C>A		NC_000011.9:g.46722487C>A	-	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.130C>T (p.Pro44Ser)	79797	ZNF408	Uncertain significance	796065315	RCV000190409;	N	MedGen:C1851402,OMIM:133780	11	46723026	46723026	NM_024741.2:c.130C>T	NP_079017.1:p.Pro44Ser	NC_000011.9:g.46723026C>T	-	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.402A>G (p.Gln134=)	79797	ZNF408	Uncertain significance	561320549	RCV000190410;	N	MedGen:C1851402,OMIM:133780	11	46724543	46724543	NM_024741.2:c.402A>G	NP_079017.1:p.Gln134=	NC_000011.9:g.46724543A>G	-	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.694A>G (p.Met232Val)	79797	ZNF408	Uncertain significance	796065316	RCV000190411;	N	MedGen:C1851402,OMIM:133780	11	46725944	46725944	NM_024741.2:c.694A>G	NP_079017.1:p.Met232Val	NC_000011.9:g.46725944A>G	-	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.1850C>A (p.Thr617Asn)	79797	ZNF408	Uncertain significance	547169524	RCV000190412;	N	MedGen:C1851402,OMIM:133780	11	46727100	46727100	NM_024741.2:c.1850C>A	NP_079017.1:p.Thr617Asn	NC_000011.9:g.46727100C>A	-	C1851402 133780 Exudative vitreoretinopathy 1
NM_024741.2(ZNF408):c.2145G>T (p.Glu715Asp)	79797	ZNF408	Uncertain significance	796065317	RCV000190413;	N	MedGen:C1851402,OMIM:133780	11	46727395	46727395	NM_024741.2:c.2145G>T	NP_079017.1:p.Glu715Asp	NC_000011.9:g.46727395G>T	-	C1851402 133780 Exudative vitreoretinopathy 1