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:
expandEye Abnormalities (D005124)
Parent Node:
expandGlaucoma (D005901)
Parent Node:
expandIris Diseases (D007499)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandIridogoniodysgenesis, dominant type (C535536)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5903
Name:Iridogoniodysgenesis, dominant type
Definition:
Alternative IDs:OMIM:137600
ParentIDs:MESH:D005124|MESH:D005901|MESH:D007499|MESH:D014071
TreeNumbers:C07.650.800/C535536 |C07.793.700/C535536 |C11.250/C535536 |C11.525.381/C535536 |C11.941.375/C535536 |C16.131.384/C535536 |C16.131.850.800/C535536
Synonyms:IGDS |IHGA |IRID2 |Iridogoniodysgenesis syndrome |Iridogoniodysgenesis type 2 |Iridogoniodysgenesis, Type 2 |Iris hypoplasia with early onset glaucoma, autosomal dominant |Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease
Reference: MedGen: C535536
MeSH: C535536
OMIM: 137600;

Genes: PITX2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000164Abnormality of the dentitionHP:0040281
4 HP:0000501GlaucomaHP:0040281
5 HP:0007990Hypoplastic iris stromaHP:0040281
6 HP:0007730Iris hypopigmentationHP:0040281
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_153427.2(PITX2):c.250C>T (p.Arg84Trp)5308PITX2Pathogenic121909248RCV000008557; NMedGen:C1842031,OMIM:1376004111542322111542322NM_153427.2:c.250C>TNP_700476.1:p.Arg84TrpNC_000004.11:g.111542322G>AOMIM Allelic Variant:601542.0007C1842031 137600 Iridogoniodysgenesis, dominant type
NM_153427.2(PITX2):c.206G>A (p.Arg69His)5308PITX2Pathogenic104893861RCV000008558; NMedGen:C1842031,OMIM:1376004111542366111542366NM_153427.2:c.206G>ANP_700476.1:p.Arg69HisNC_000004.11:g.111542366C>TOMIM Allelic Variant:601542.0008C1842031 137600 Iridogoniodysgenesis, dominant type