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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Contracture (D003286)
Parent Node: Myositis, Inclusion Body (D018979)
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..CANOMAD syndrome (C537980)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5761

Name:

Inclusion Body Myopathy 3, Autosomal Dominant

Definition:

Alternative IDs:

OMIM:605637

ParentIDs:

MESH:D003286|MESH:D009886|MESH:D018979

TreeNumbers:

C05.550.323/C565311 |C05.651.197/C565311 |C05.651.594.600/C565311 |C10.292.562.750/C565311 |C10.597.622.447/C565311 |C10.668.491.562.500/C565311 |C11.590.472/C565311 |C23.888.592.636.447/C565311

Synonyms:

IBM3 |Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles

Slim Mappings:

Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565311
MeSH: C565311
OMIM: 605637;

Genes: MYH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002803	Congenital contracture
4	HP:0002460	Distal muscle weakness	HP:0040283
5	HP:0003324	Generalized muscle weakness
6	HP:0000218	High palate
7	HP:0100299	Muscle fiber inclusion bodies
8	HP:0002058	Myopathic facies
9	HP:0003198	Myopathy
10	HP:0000467	Neck muscle weakness
11	HP:0003701	Proximal muscle weakness
12	HP:0000508	Ptosis	HP:0040283
13	HP:0003691	Scapular winging	HP:0040283
14	HP:0002650	Scoliosis	HP:0040283
15	HP:0003828	Variable expressivity
16	HP:0002515	Waddling gait	HP:0040283

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_017534.5(MYH2):c.5609T>C (p.Leu1870Pro)	-1	-	Pathogenic	786201023	RCV000162317;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10426471	10426471	NM_017534.5:c.5609T>C	NP_060004.3:p.Leu1870Pro	NC_000017.10:g.10426471A>G	OMIM Allelic Variant:160740.0002	C1854106 605637 Inclusion body myopathy 3
NM_017534.5(MYH2):c.3002delA (p.Glu1001Glyfs)	-1	-	Likely pathogenic	797045096	RCV000190605;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10432996	10432996	NM_017534.5:c.3002delA	NP_060004.3:p.Glu1001Glyfs		-	C1854106 605637 Inclusion body myopathy 3
NM_017534.5(MYH2):c.2405T>A (p.Leu802Ter)	-1	-	Pathogenic	758395765	RCV000162321;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10436638	10436638	NM_017534.5:c.2405T>A	NP_060004.3:p.Leu802Ter	NC_000017.10:g.10436638A>T	OMIM Allelic Variant:160740.0006	C1854106 605637 Inclusion body myopathy 3
NM_017534.5(MYH2):c.2347C>T (p.Arg783Ter)	-1	-	Pathogenic	762121316	RCV000162319;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10436696	10436696	NM_017534.5:c.2347C>T	NP_060004.3:p.Arg783Ter	NC_000017.10:g.10436696G>A	OMIM Allelic Variant:160740.0004	C1854106 605637 Inclusion body myopathy 3
NM_017534.5(MYH2):c.2116G>A (p.Glu706Lys)	-1	-	Pathogenic	121434589	RCV000015199;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10438454	10438454	NM_017534.5:c.2116G>A	NP_060004.3:p.Glu706Lys	NC_000017.10:g.10438454C>T	OMIM Allelic Variant:160740.0001	C1854106 605637 Inclusion body myopathy 3
NM_017534.5(MYH2):c.706G>A (p.Ala236Thr)	-1	-	Pathogenic	147708782	RCV000162323;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10447063	10447063	NM_017534.5:c.706G>A	NP_060004.3:p.Ala236Thr	NC_000017.10:g.10447063C>T	OMIM Allelic Variant:160740.0008	C1854106 605637 Inclusion body myopathy 3
NM_017534.5(MYH2):c.533C>T (p.Thr178Ile)	-1	-	Pathogenic	756953958	RCV000162324;	N	MedGen:C1854106,OMIM:605637,ORPHA:79091	17	10447417	10447417	NM_017534.5:c.533C>T	NP_060004.3:p.Thr178Ile	NC_000017.10:g.10447417G>A	OMIM Allelic Variant:160740.0009	C1854106 605637 Inclusion body myopathy 3