MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
expand
Eye Abnormalities (D005124)
..Starting node
..expand
Anterior segment mesenchymal dysgenesis (C537775)

       Child Nodes:
........expandCRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandAniridia (D015783) Child10
..expandAnkyloblepharon filiforme adnatum (C536373)
..expandAnophthalmos (D000853) Child8
..expandAnterior segment mesenchymal dysgenesis (C537775)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBlepharophimosis (D016569) Child17
..expandBlue diaper syndrome (C536239)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandBrittle cornea syndrome 1 (C536192)
..expandChemke Oliver Mallek syndrome (C535922)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCODAS syndrome (C536434)
..expandCole Carpenter syndrome (C535963)
..expandColoboma (D003103) Child43
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandDESANTO-SHINAWI SYNDROME (OMIM:616708)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandEctopia Lentis (D004479) Child13
..expandFACES syndrome (C536384)
..expandFoveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..expandFraser Syndrome (D058497)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontoocular Syndrome (C565340)
..expandGoniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..expandHay-Wells syndrome (C535847)
..expandHydrophthalmos (D006871)
..expandIridogoniodysgenesis and skeletal anomalies (C535534)
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert Syndrome 9 (C567364)
..expandKapur Toriello syndrome (C537008)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandMacrophthalmia, Colobomatous, with Microcornea (C566533)
..expandMaxillofacial Dysostosis (C563599)
..expandMesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrophthalmos (D008850) Child57
..expandMOMES Syndrome (C564660)
..expandNephrotic syndrome ocular anomalies (C536403)
..expandNephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..expandNEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
..expandOculoauricular Syndrome (C567416)
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebrocutaneous syndrome (C538088)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculomaxillofacial dysostosis (C537736)
..expandOculopalatocerebral Syndrome (C564935)
..expandOculopalatoskeletal syndrome (C537738)
..expandOculorenocerebellar syndrome (C537739)
..expandPena Shokeir syndrome Type 2 (C536646)
..expandPersistent Hyperplastic Primary Vitreous (D054514)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPeters anomaly (C537884)
..expandPHACE association (C537892)
..expandPierson syndrome (C537185)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandPrepapillary Vascular Loops (C563287)
..expandPupil, Egg-Shaped (C566731)
..expandPupillary Membrane, Persistence Of (C562700)
..expandRetinal Dysplasia (D015792) Child2
..expandRieger syndrome 2 (C535680)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSchmid-Fraccaro syndrome (C535918)
..expandTorsion dystonia with onset in infancy (C536969)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:781
Name:Anterior segment mesenchymal dysgenesis
Definition:
Alternative IDs:OMIM:107250|OMIM:269400|OMIM:617315|OMIM:617319
ParentIDs:MESH:D005124
TreeNumbers:C11.250/C537775 |C16.131.384/C537775
Synonyms:ANTERIOR SEGMENT DYSGENESIS 1 |ANTERIOR SEGMENT DYSGENESIS 6 |ANTERIOR SEGMENT DYSGENESIS 7 |ANTERIOR SEGMENT DYSGENESIS 8 |ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS |Anterior segment ocular dysgenesis |ASGD1 |ASGD6 |ASGD7 |ASGD8 |ASMD |ASOD |COPOA |CORNEAL OPACIFICATI
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: C537775
MeSH: C537775
OMIM: 617315;
MSeqDR LSDB:  
Genes: FOXE3; PITX3; PXDN;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011490Abnormality of Descemet's membrane
3 HP:0001087Congenital glaucoma
4 HP:0011496Corneal neovascularization
5 HP:0007957Corneal opacity
6 HP:0011484Posterior synechiae of the anterior chamber
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter)1545CYP1B1Pathogenicrs72549387RCV000008176|RCV000169657|RCV000331073|RCV000416316|RCV000489919|RCV000692947|RCV000763084|RCV001200036; NHuman Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229, Orphanet:708|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300, Orphanet:98976, Orphanet:98977|MedGen:CN239260|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MedGen:CN5172023830236138302361CT2:g.38302361C>TClinGen:CA119014,OMIM:601771.0010C4310623 617315 Anterior segment dysgenesis 6;
NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr)1545CYP1B1Pathogenicrs72549389RCV000008175; NMONDO:MONDO:0015016,MedGen:C4310623,OMIM:61731523830253038302530AG2:g.38302530A>GClinGen:CA119012,OMIM:601771.0009C4310623 617315 Anterior segment dysgenesis 6;
MSeqDR Portal