MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandEye Diseases, Hereditary (D015785)
Parent Node:
expandOcular Motility Disorders (D015835)
..Starting node
..expandDuane Retraction Syndrome (D004370)

       Child Nodes:
........expandBor-Duane hydrocephalus contiguous gene syndrome (C536574)
........expandBpes With Duane Retraction Syndrome (C566222)



 Sister Nodes: 
..expandAthabaskan brainstem dysgenesis (C535397)
..expandDiffuse Lewy Body Disease with Gaze Palsy (C565077)
..expandDuane Retraction Syndrome (D004370) Child2
..expandFibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..expandFibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..expandFibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..expandFibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandJoubert syndrome 6 (C537689)
..expandJoubert Syndrome 7 (C566916)
..expandLevator-Medial Rectus Synkinesis (C563625)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMiller Fisher Syndrome (D019846)
..expandNEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..expandNystagmus, Pathologic (D009759) Child25
..expandOculomotor Nerve Diseases (D015840) Child4
..expandOphthalmoplegia (D009886) Child41  LSDB C:9
..expandOpsoclonus-Myoclonus Syndrome (D053578) Child1
..expandParoxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..expandSetting-Sun Phenomenon, Familial Benign (C563470)
..expandStrabismus (D013285) Child13
..expandTolosa-Hunt Syndrome (D020333) Child1
..expandTukel 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 LSDB:  
Genes: CHN1; DURS1; SALL4;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000634Impaired ocular abduction
3 HP:0000542Impaired ocular adduction
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005461.4(MAFB):c.(?_391)_*(390_?)del9935MAFBPathogenic-1RCV000240735|RCV002051694; NMONDO: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:233203931612939317100nanaOMIM:608968.0010C0994516 126800 Duane syndrome type 1;
NM_005461.5(MAFB):c.803del (p.Asn268fs)9935MAFBPathogenicrs879255275RCV000235061|RCV000240679; NMONDO: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:233203931668839316688ATANC_000020.10:g.39316689delOMIM:608968.0007,ClinGen:CA10575959C4310752 617041 Duane retraction syndrome 3 with or without deafness;
NM_005461.5(MAFB):c.644del (p.Gln215fs)9935MAFBPathogenicrs879255277RCV000240779|RCV002051693; NMONDO: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:233203931684739316847CTC20:g.39316847_39316847delClinGen:CA10575960,OMIM:608968.0009C0994516 126800 Duane syndrome type 1;
NM_005461.5(MAFB):c.440del (p.Gly147fs)9935MAFBPathogenicrs879255276RCV000240729|RCV002051692; NMONDO: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:233203931705139317051GCGNC_000020.10:g.39317053delClinGen:CA10575961,OMIM:608968.0008C0994516 126800 Duane syndrome type 1;
MSeqDR Portal