MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

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

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 :
Genes: TUBB3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001274	Agenesis of corpus callosum	HP:0040283
3	HP:0000646	Amblyopia
4	HP:0100490	Camptodactyly of finger	HP:0040283
5	HP:0001477	Compensatory chin elevation
6	HP:0001491	Congenital fibrosis of extraocular muscles
7	HP:0000577	Exotropia
8	HP:0010628	Facial palsy	HP:0040283
9	HP:0001263	Global developmental delay NAMDC: Mental retardation	HP:0040283
10	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)	HP:0040283
11	HP:0009473	Joint contracture of the hand	HP:0040283
12	HP:0012241	Levator palpebrae superioris atrophy
13	HP:0007831	Nonprogressive restrictive external ophthalmoplegia
14	HP:0003477	Peripheral axonal neuropathy NAMDC: Neuropathy axonal	HP:0040283
15	HP:0003812	Phenotypic variability
16	HP:0000508	Ptosis NAMDC: Ptosis
17	HP:0001328	Specific learning disability	HP:0040283
18	HP:0012242	Superior rectus atrophy
19	HP:0001239	Wrist flexion contracture	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)	10381	TUBB3	Pathogenic/Likely pathogenic	rs1555625363	RCV000656083\|RCV001824143\|RCV002461261;	N	MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570\|MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202	16	89999057	89999057	16:g.89999057C>T	ClinGen:CA397471028	C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)	10381	TUBB3	not provided	rs864321714	RCV000203610;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638	16	89999894	89999894	16:g.89999894G>A	ClinGen:CA347966,UniProtKB:Q13509#VAR_062758	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)	10381	TUBB3	Pathogenic	rs864321715	RCV000203606\|RCV000301357;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202	16	89999920	89999920	16:g.89999920G>A	ClinGen:CA347960	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	10381	TUBB3	Conflicting interpretations of pathogenicity	rs587784505	RCV000147851\|RCV000203608\|RCV000255388;	N	MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570\|MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202	16	90001151	90001151	16:g.90001151G>A	ClinGen:CA213295	C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)	10381	TUBB3	not provided	-1	RCV001844430;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638; MedGen:CN120300; MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700; MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570	16	90001367	90001367	90001367	-
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg)	10381	TUBB3	Uncertain significance	rs1567765029	RCV000754774;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638	16	90001490	90001490	NC_000016.9:g.90001490T>C	-
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)	10381	TUBB3	Conflicting interpretations of pathogenicity	rs587784506	RCV000147856\|RCV000764099\|RCV001550956;	N	MONDO: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:CN517202	16	90001587	90001587	NC_000016.9:g.90001587C>T	ClinGen:CA213298	C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)	10381	TUBB3	Pathogenic	rs267607162	RCV000007378\|RCV000254974;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202	16	90001643	90001643	16:g.90001643C>T	ClinGen:CA340618,UniProtKB:Q13509#VAR_062759,OMIM:602661.0001	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	10381	TUBB3	Pathogenic/Likely pathogenic	rs864321716	RCV000203607\|RCV000519071\|RCV001270742;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202\|MONDO:MONDO:0100154,MedGen:CN322634	16	90001644	90001644	NC_000016.9:g.90001644G>A	ClinGen:CA347962,UniProtKB:Q13509#VAR_062760	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)	10381	TUBB3	Pathogenic	rs267607163	RCV000007379\|RCV000386199;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202	16	90001763	90001763	16:g.90001763G>A	ClinGen:CA340620,UniProtKB:Q13509#VAR_062761,OMIM:602661.0002	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)	10381	TUBB3	Pathogenic	rs864321717	RCV000203611\|RCV000255747\|RCV001267589\|RCV001804943;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570	16	90001997	90001997	16:g.90001997C>T	ClinGen:CA347967,UniProtKB:Q13509#VAR_062762	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)	10381	TUBB3	Pathogenic	rs267607165	RCV000007382\|RCV000194090\|RCV001539529\|RCV001267650;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570\|MedGen:CN517202\|	16	90002087	90002087	16:g.90002087G>A	ClinGen:CA213335,UniProtKB:Q13509#VAR_062763,OMIM:602661.0005	C3808397 614039 Cortical dysplasia, complex, with other brain malformations 1;
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)	10381	TUBB3	Pathogenic	rs267607164	RCV000007380;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638	16	90002108	90002108	16:g.90002108G>C	ClinGen:CA340622,UniProtKB:Q13509#VAR_062764,OMIM:602661.0003	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)	10381	TUBB3	Pathogenic	rs267607164	RCV000007381\|RCV001851720;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638\|MedGen:CN517202	16	90002108	90002108	16:g.90002108G>A	ClinGen:CA340624,UniProtKB:Q13509#VAR_062765,OMIM:602661.0004	C2748801 600638 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement;

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