Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGlaucoma (D005901)
..Starting node
..expandGlaucoma 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 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)
..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, CTD
Term ID:4631
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;

Genes: NTF4;
Phenotypes
1 HP:0012108Open angle glaucoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_006179.4(NTF4):c.617G>A (p.Arg206Gln)4909NTF4Pathogenic121918428RCV000015062; NMedGen:C2751294,OMIM:613100194956463849564638NM_006179.4:c.617G>ANP_006170.1:p.Arg206GlnNC_000019.9:g.49564638C>TOMIM Allelic Variant:162662.0003C2751294 613100 Glaucoma 1, open angle, O
NM_006179.4(NTF4):c.616C>T (p.Arg206Trp)4909NTF4Pathogenic121918427RCV000015061; NMedGen:C2751294,OMIM:613100194956463949564639NM_006179.4:c.616C>TNP_006170.1:p.Arg206TrpNC_000019.9:g.49564639G>AOMIM Allelic Variant:162662.0002C2751294 613100 Glaucoma 1, open angle, O
NM_006179.4(NTF4):c.263C>T (p.Ala88Val)4909NTF4Pathogenic61732310RCV000015060; NMedGen:C2751294,OMIM:613100194956499249564992NM_006179.4:c.263C>TNP_006170.1:p.Ala88ValNC_000019.9:g.49564992G>AOMIM Allelic Variant:162662.0001C2751294 613100 Glaucoma 1, open angle, O