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Disease Browser
Parent Node:
expandGlaucoma (D005901)
..Starting node
..expandGlaucoma 3, Primary Congenital, D (C567765)

       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:4635
Name:Glaucoma 3, Primary Congenital, D
Definition:
Alternative IDs:OMIM:613086
ParentIDs:MESH:D005901
TreeNumbers:C11.525.381/C567765
Synonyms:Glc3d
Slim Mappings:Eye disease
Reference: MedGen: C567765
MeSH: C567765
OMIM: 613086;

Genes: LTBP2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007957Corneal opacity
3 HP:0001083Ectopia lentisHP:0040284
4 HP:0000613Photophobia
5 HP:0008007Primary congenital glaucoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000428.2(LTBP2):c.895C>T (p.Arg299Ter)4053LTBP2Pathogenic121918355RCV000007990; RCV000024324; NMedGen:C1562061,OMIM:251750,SNOMED CT:416671000; MedGen:C2751316,OMIM:613086147502233275022332NM_000428.2:c.895C>TNP_000419.1:p.Arg299TerNC_000014.8:g.75022332G>AOMIM Allelic Variant:602091.0001C2751316 613086 Glaucoma 3, primary congenital, d; C1562061 251750 Microspherophakia
NM_000428.2(LTBP2):c.331C>T (p.Gln111Ter)4053LTBP2Pathogenic121918356RCV000007993; NMedGen:C2751316,OMIM:613086147507831775078317NM_000428.2:c.331C>TNP_000419.1:p.Gln111TerNC_000014.8:g.75078317G>AOMIM Allelic Variant:602091.0004C2751316 613086 Glaucoma 3, primary congenital, d