MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Vitreoretinopathy, Proliferative (D018630)
..Starting node
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VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)

       Child Nodes:



 Sister Nodes: 
..expandExudative vitreoretinopathy 1 (C536382)
..expandEXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
..expandExudative Vitreoretinopathy 3 (C565297)
..expandExudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..expandVITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12737
Name:VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
Definition:
Alternative IDs:
ParentIDs:MESH:D018630
TreeNumbers:C11.768.890/193235
Synonyms:ADNIV |PROLIFERATIVE VITREORETINOPATHY |PVR |VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT |VRNI
Slim Mappings:Eye disease
Reference: MedGen: 193235
MeSH: 193235
OMIM: 193235;
MSeqDR LSDB:  
Genes: CAPN5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000512Abnormal electroretinogram
3 HP:0000618Blindness
4 HP:0007658Large hyperpigmented retinal spots
5 HP:0030667Peripheral retinal neovascularization
6 HP:0007778Posterior retinal neovascularization
7 HP:0000541Retinal detachment
8 HP:0000554Uveitis
9 HP:0007773Vitreoretinopathy
10 HP:0007902Vitreous hemorrhage
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu)726CAPN5Pathogenicrs397514601RCV000033027|RCV001383042|RCV001535499; NMONDO:MONDO:0006928,MedGen:C0242852,OMIM:193235, Orphanet:329211|MedGen:CN517202|MedGen:C4721549117682646976826469GT11:g.76826469G>TClinGen:CA130571,UniProtKB:O15484#VAR_069277,OMIM:602537.0001C0242852 193235 Vitreoretinopathy, neovascular inflammatory;
NM_004055.5(CAPN5):c.731T>C (p.Leu244Pro)726CAPN5Pathogenicrs397514602RCV000033028; NMONDO:MONDO:0006928,MedGen:C0242852,OMIM:193235, Orphanet:329211117682647276826472TC11:g.76826472T>CClinGen:CA130572,UniProtKB:O15484#VAR_069278,OMIM:602537.0002C0242852 193235 Vitreoretinopathy, neovascular inflammatory;
NM_004055.5(CAPN5):c.750G>C (p.Lys250Asn)726CAPN5Pathogenicrs1950456995RCV001078182; NMONDO:MONDO:0006928,MedGen:C0242852,OMIM:193235, Orphanet:329211117682649176826491GC11:g.76826491G>C-
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp)726CAPN5Pathogenicrs886041303RCV000389248|RCV000626481|RCV001267244; NMedGen:CN517202|MONDO:MONDO:0006928,MedGen:C0242852,OMIM:193235, Orphanet:329211|MeSH:D030342,MedGen:C0950123117682660676826606CT11:g.76826606C>TClinGen:CA10603137CN517202 not provided;
NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile)726CAPN5Benign/Likely benignrs111264315RCV000625416|RCV001510632|RCV001700425; NMONDO:MONDO:0006928,MedGen:C0242852,OMIM:193235, Orphanet:329211|MedGen:CN517202|MedGen:CN169374117683488776834887CA11:g.76834887C>AClinGen:CA6196946C0242852 193235 Vitreoretinopathy, neovascular inflammatory;
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