Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Eye Diseases (D005128)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Exudative Vitreoretinopathy 5 (C567648)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4043

Name:

Exudative Vitreoretinopathy 5

Definition:

Alternative IDs:

OMIM:613310

ParentIDs:

MESH:D005128|MESH:D012164

TreeNumbers:

C11.768/C567648 |C11/C567648

Synonyms:

EVR5

Slim Mappings:

Eye disease

Reference:

MedGen: C567648
MeSH: C567648
OMIM: 613310;

Genes: TSPAN12;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0030490	Exudative vitreoretinopathy
3	HP:0007663	Reduced visual acuity	HP:0040283
4	HP:0000594	Shallow anterior chamber	HP:0040283
5	HP:0007917	Tractional retinal detachment	HP:0040283
6	HP:0000505	Visual impairment	HP:0040283

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_012338.3(TSPAN12):c.734T>C (p.Leu245Pro)	23554	TSPAN12	Pathogenic	200519776	RCV000023997;	N	MedGen:C2750079,OMIM:613310	7	120428830	120428830	NM_012338.3:c.734T>C	NP_036470.1:p.Leu245Pro	NC_000007.13:g.120428830A>G	OMIM Allelic Variant:613138.0007	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.709G>C (p.Ala237Pro)	23554	TSPAN12	Pathogenic	267607154	RCV000000347;	N	MedGen:C2750079,OMIM:613310	7	120428855	120428855	NM_012338.3:c.709G>C	NP_036470.1:p.Ala237Pro	NC_000007.13:g.120428855C>G	OMIM Allelic Variant:613138.0001	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.562G>C (p.Gly188Arg)	23554	TSPAN12	Pathogenic	267607151	RCV000000348;	N	MedGen:C2750079,OMIM:613310	7	120446653	120446653	NM_012338.3:c.562G>C	NP_036470.1:p.Gly188Arg	NC_000007.13:g.120446653C>G	OMIM Allelic Variant:613138.0002	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.419T>A (p.Leu140Ter)	23554	TSPAN12	Pathogenic	267607153	RCV000000350;	N	MedGen:C2750079,OMIM:613310	7	120450566	120450566	NM_012338.3:c.419T>A	NP_036470.1:p.Leu140Ter	NC_000007.13:g.120450566A>T	OMIM Allelic Variant:613138.0004	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.413A>G (p.Tyr138Cys)	23554	TSPAN12	Pathogenic	587777283	RCV000114398;	N	MedGen:C2750079,OMIM:613310	7	120450572	120450572	NM_012338.3:c.413A>G	NP_036470.1:p.Tyr138Cys	NC_000007.13:g.120450572T>C	OMIM Allelic Variant:613138.0008	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.361-5_361-1delACCAG	23554	TSPAN12	Pathogenic	794726655	RCV000000351;	N	MedGen:C2750079,OMIM:613310	7	120450625	120450629	NM_012338.3:c.361-5_361-1delACCAG		NC_000007.13:g.120450625_120450629delCTGGT	OMIM Allelic Variant:613138.0005	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.302T>A (p.Leu101His)	23554	TSPAN12	Pathogenic	267607152	RCV000000352;	N	MedGen:C2750079,OMIM:613310	7	120455841	120455841	NM_012338.3:c.302T>A	NP_036470.1:p.Leu101His	NC_000007.13:g.120455841A>T	OMIM Allelic Variant:613138.0006	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.285+1G>A	23554	TSPAN12	Pathogenic	587777285	RCV000114401;	N	MedGen:C2750079,OMIM:613310	7	120478830	120478830	NM_012338.3:c.285+1G>A		7:g.120478830C>T	OMIM Allelic Variant:613138.0011	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.212_218dupGCTGTTT (p.Phe73Leufs)	23554	TSPAN12	Pathogenic	794726654	RCV000000349;	N	MedGen:C2750079,OMIM:613310	7	120478898	120478904	NM_012338.3:c.212_218dupGCTGTTT	NP_036470.1:p.Phe73Leufs	NC_000007.13:g.120478898_120478904dupAAACAGC	OMIM Allelic Variant:613138.0003	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.146C>T (p.Thr49Met)	23554	TSPAN12	Pathogenic	538591733	RCV000114400;	N	MedGen:C2750079,OMIM:613310	7	120480084	120480084	NM_012338.3:c.146C>T	NP_036470.1:p.Thr49Met	NC_000007.13:g.120480084G>A	OMIM Allelic Variant:613138.0010	C2750079 613310 Exudative vitreoretinopathy 5
NM_012338.3(TSPAN12):c.67-1G>C	23554	TSPAN12	Pathogenic	587777284	RCV000114399;	N	MedGen:C2750079,OMIM:613310	7	120480164	120480164	NM_012338.3:c.67-1G>C		7:g.120480164C>G	OMIM Allelic Variant:613138.0009	C2750079 613310 Exudative vitreoretinopathy 5