Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785) Parent Node: Ocular Motility Disorders (D015835) ..Starting node .. Duane Retraction Syndrome (D004370) Child Nodes:
........Bor-Duane hydrocephalus contiguous gene syndrome (C536574) ........Bpes With Duane Retraction Syndrome (C566222) Sister Nodes: ..Athabaskan brainstem dysgenesis (C535397) ..Diffuse Lewy Body Disease with Gaze Palsy (C565077) ..Duane Retraction Syndrome (D004370) 2 ..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572) ..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739) ..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666) ..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508) ..Joubert syndrome 3 (C536295) ..Joubert syndrome 5 (C537688) ..Joubert syndrome 6 (C537689) ..Joubert Syndrome 7 (C566916) ..Levator-Medial Rectus Synkinesis (C563625) ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484) ..Miller Fisher Syndrome (D019846) ..NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145) ..Nystagmus, Pathologic (D009759) 25 ..Oculomotor Nerve Diseases (D015840) 4 ..Ophthalmoplegia (D009886) 41 C:9 ..Opsoclonus-Myoclonus Syndrome (D053578) 1 ..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817) ..Setting-Sun Phenomenon, Familial Benign (C563470) ..Strabismus (D013285) 13 ..Tolosa-Hunt Syndrome (D020333) 1 ..Tukel syndrome (C536925) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM ,ClinVar , CTD
Term ID: 3826
Name: Duane Retraction Syndrome
Definition: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Alternative IDs: DO:DOID:12557|OMIM:126800|OMIM:604356|OMIM:607323|OMIM:617041
ParentIDs: MESH:D015785|MESH:D015835
TreeNumbers: C10.292.562.250 |C11.270.235 |C11.590.224 |C16.320.290.235
Synonyms: Acrorenoocular Syndrome |Acrorenoocular Syndromes |Anomalies, Isolated Duane |Anomaly, Duane |Anomaly, Isolated Duane |Co Contractive Retraction Syndrome |Co-Contractive Retraction Syndrome |Co-Contractive Retraction Syndromes |DRRS |DRS |DR SYNDROME |Duane Anomali
Slim Mappings: Eye disease|Genetic disease (inborn)|Nervous system disease
Reference:
MedGen: D004370
MeSH: D004370
OMIM: 617041 ; MSeqDR : Genes: CHN1 ; DURS1 ; SALL4 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar NM_005461.4(MAFB):c.(?_391)_*(390_?)del 9935 MAFB Pathogenic -1 RCV000240735|RCV002051694 ; N MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800, Orphanet:233; MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356, Orphanet:233|MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041, Orphanet:233 20 39316129 39317100 na na OMIM:608968.0010 C0994516 126800 Duane syndrome type 1; NM_005461.5(MAFB):c.803del (p.Asn268fs) 9935 MAFB Pathogenic rs879255275 RCV000235061|RCV000240679 ; N MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041, Orphanet:233|MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356, Orphanet:233; MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800, Orphanet:233 20 39316688 39316688 AT A NC_000020.10:g.39316689del OMIM:608968.0007,ClinGen:CA10575959 C4310752 617041 Duane retraction syndrome 3 with or without deafness; NM_005461.5(MAFB):c.644del (p.Gln215fs) 9935 MAFB Pathogenic rs879255277 RCV000240779|RCV002051693 ; N MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800, Orphanet:233; MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356, Orphanet:233|MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041, Orphanet:233 20 39316847 39316847 CT C 20:g.39316847_39316847del ClinGen:CA10575960,OMIM:608968.0009 C0994516 126800 Duane syndrome type 1; NM_005461.5(MAFB):c.440del (p.Gly147fs) 9935 MAFB Pathogenic rs879255276 RCV000240729|RCV002051692 ; N MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800, Orphanet:233; MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356, Orphanet:233|MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041, Orphanet:233 20 39317051 39317051 GC G NC_000020.10:g.39317053del ClinGen:CA10575961,OMIM:608968.0008 C0994516 126800 Duane syndrome type 1;
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