MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Eye Diseases, Hereditary (D015785)
Parent Node:
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Fibrosis (D005355)
Parent Node:
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Ocular Motility Disorders (D015835)
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Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)

       Child Nodes:



 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:4740
Name:Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
Definition:
Alternative IDs:OMIM:600638
ParentIDs:MESH:D005355|MESH:D015785|MESH:D015835
TreeNumbers:C10.228.758/C567572 |C10.292.562/C567572 |C11.270/C567572 |C11.590/C567572 |C16.320.290/C567572 |C23.550.355/C567572
Synonyms:CFEOM3A |FEOM3 LOCUS
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)
Reference: MedGen: C567572
MeSH: C567572
OMIM: 600638;
MSeqDR LSDB:  
Genes: TUBB3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001274Agenesis of corpus callosumHP:0040283
3 HP:0000646Amblyopia
4 HP:0100490Camptodactyly of fingerHP:0040283
5 HP:0001477Compensatory chin elevation
6 HP:0001491Congenital fibrosis of extraocular muscles
7 HP:0000577Exotropia
8 HP:0010628Facial palsyHP:0040283
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040283
10 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040283
11 HP:0009473Joint contracture of the handHP:0040283
12 HP:0012241Levator palpebrae superioris atrophy
13 HP:0007831Nonprogressive restrictive external ophthalmoplegia
14 HP:0003477Peripheral axonal neuropathy
NAMDC:  Neuropathy axonal
HP:0040283
15 HP:0003812Phenotypic variability
16 HP:0000508Ptosis
NAMDC:  Ptosis
17 HP:0001328Specific learning disabilityHP:0040283
18 HP:0012242Superior rectus atrophy
19 HP:0001239Wrist flexion contractureHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)10381TUBB3Pathogenic/Likely pathogenicrs1555625363RCV000656083|RCV001824143|RCV002461261; NMONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570|MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN51720216899990578999905716:g.89999057C>TClinGen:CA397471028C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)10381TUBB3not providedrs864321714RCV000203610; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:60063816899998948999989416:g.89999894G>AClinGen:CA347966,UniProtKB:Q13509#VAR_062758C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)10381TUBB3Pathogenicrs864321715RCV000203606|RCV000301357; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN51720216899999208999992016:g.89999920G>AClinGen:CA347960C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)10381TUBB3Conflicting interpretations of pathogenicityrs587784505RCV000147851|RCV000203608|RCV000255388; NMONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570|MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN51720216900011519000115116:g.90001151G>AClinGen:CA213295C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)10381TUBB3not provided-1RCV001844430; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638; MedGen:CN120300; MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700; MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:30057016900013679000136790001367-
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg)10381TUBB3Uncertain significancers1567765029RCV000754774; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638169000149090001490NC_000016.9:g.90001490T>C-
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)10381TUBB3Conflicting interpretations of pathogenicityrs587784506RCV000147856|RCV000764099|RCV001550956; NMONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570|MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638; MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570|MedGen:CN517202169000158790001587NC_000016.9:g.90001587C>TClinGen:CA213298C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)10381TUBB3Pathogenicrs267607162RCV000007378|RCV000254974; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN51720216900016439000164316:g.90001643C>TClinGen:CA340618,UniProtKB:Q13509#VAR_062759,OMIM:602661.0001C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)10381TUBB3Pathogenic/Likely pathogenicrs864321716RCV000203607|RCV000519071|RCV001270742; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN517202|MONDO:MONDO:0100154,MedGen:CN322634169000164490001644NC_000016.9:g.90001644G>AClinGen:CA347962,UniProtKB:Q13509#VAR_062760C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)10381TUBB3Pathogenicrs267607163RCV000007379|RCV000386199; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN51720216900017639000176316:g.90001763G>AClinGen:CA340620,UniProtKB:Q13509#VAR_062761,OMIM:602661.0002C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)10381TUBB3Pathogenicrs864321717RCV000203611|RCV000255747|RCV001267589|RCV001804943; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:30057016900019979000199716:g.90001997C>TClinGen:CA347967,UniProtKB:Q13509#VAR_062762C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)10381TUBB3Pathogenicrs267607165RCV000007382|RCV000194090|RCV001539529|RCV001267650; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570|MedGen:CN517202|16900020879000208716:g.90002087G>AClinGen:CA213335,UniProtKB:Q13509#VAR_062763,OMIM:602661.0005C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)10381TUBB3Pathogenicrs267607164RCV000007380; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:60063816900021089000210816:g.90002108G>CClinGen:CA340622,UniProtKB:Q13509#VAR_062764,OMIM:602661.0003C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)10381TUBB3Pathogenicrs267607164RCV000007381|RCV001851720; NMONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638|MedGen:CN51720216900021089000210816:g.90002108G>AClinGen:CA340624,UniProtKB:Q13509#VAR_062765,OMIM:602661.0004C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
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