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:
expand
Glaucoma (D005901)
..Starting node
..expand
Glaucoma 1, Open Angle, O (C567753)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAckerman syndrome (C538170)
..expandBowen syndrome (C538164)
..expandCharcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..expandCharcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..expandDyssegmental Dysplasia with Glaucoma (C563290)
..expandEarly-Onset Glaucoma (C580055)
..expandFriedreich ataxia congenital glaucoma (C538061)
..expandGEMSS syndrome (C537679)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGlaucoma 1, Open Angle, O (C567753)
..expandGlaucoma 3, Primary Congenital, A (C565547)
..expandGLAUCOMA 3, PRIMARY CONGENITAL, C (OMIM:613085)
..expandGlaucoma 3, Primary Congenital, D (C567765)
..expandGLAUCOMA 3, PRIMARY CONGENITAL, E (OMIM:617272)
..expandGlaucoma 3, primary infantile, B (C536824)
..expandGlaucoma and Sleep Apnea (C564232)
..expandGlaucoma Iridogoniodysplasia, Familial (C566650)
..expandGlaucoma, Angle-Closure (D015812) Child1
..expandGlaucoma, Neovascular (D015355)
..expandGLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
..expandGlaucoma, Open-Angle (D005902) Child18
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandIris hypoplasia and glaucoma (C535538)
..expandLow Tension Glaucoma (D057066)
..expandLowry Maclean syndrome (C537037)
..expandMacKay Shek Carr syndrome (C538364)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrospherophakia (C563255)
..expandPeters anomaly with cataract (C537885)
..expandRenal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
..expandSpastic Paresis, Glaucoma, and Mental Retardation (C564809)
..expandTetralogy of fallot and glaucoma (C536501)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5087
Name:Glaucoma 1, Open Angle, O
Definition:
Alternative IDs:OMIM:613100
ParentIDs:MESH:D005901
TreeNumbers:C11.525.381/C567753
Synonyms:Glc1o |Primary Open Angle Glaucoma-1O
Slim Mappings:Eye disease
Reference: MedGen: C567753
MeSH: C567753
OMIM: 613100;
MSeqDR LSDB:  
Genes: CCR5; IFNG; IFNL3; NTF4; PTPRC;
Phenotypes
1 HP:0012108Open angle glaucoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006179.4(NTF4):c.617G>A (p.Arg206Gln)4909NTF4Pathogenicrs121918428RCV000015062; NMONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100194956463849564638CT19:g.49564638C>TClinGen:CA123709,UniProtKB:P34130#VAR_063205,OMIM:162662.0003C2751294 613100 Glaucoma 1, open angle, O;
NM_006179.4(NTF4):c.616C>T (p.Arg206Trp)4909NTF4Conflicting interpretations of pathogenicityrs121918427RCV000015061; NMONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100194956463949564639GA19:g.49564639G>AClinGen:CA123707,UniProtKB:P34130#VAR_063206,OMIM:162662.0002C2751294 613100 Glaucoma 1, open angle, O;
NM_006179.4(NTF4):c.263C>T (p.Ala88Val)4909NTF4Likely benignrs61732310RCV000015060|RCV001258310; NMONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100|MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919, Orphanet:777194956499249564992GA19:g.49564992G>AClinGen:CA123705,UniProtKB:P34130#VAR_063198,OMIM:162662.0001C2751294 613100 Glaucoma 1, open angle, O;
MSeqDR Portal