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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Muscular Diseases (D009135)
..Starting node ..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7690

Name:

MYOPATHY, MYOFIBRILLAR, 6

Definition:

Alternative IDs:

ParentIDs:

MESH:D009135

TreeNumbers:

C05.651/612954 |C10.668.491/612954

Synonyms:

MFM6 |MYOPATHY, MYOFIBRILLAR, BAG3-RELATED

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 612954
MeSH: 612954
OMIM: 612954;

Genes: BAG3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003447	Axonal loss
3	HP:0007108	Demyelinating peripheral neuropathy
4	HP:0006597	Diaphragmatic paralysis
5	HP:0002936	Distal sensory impairment
6	HP:0003388	Easy fatigability
7	HP:0003236	Elevated circulating creatine kinase concentration
8	HP:0003458	EMG: myopathic abnormalities
9	HP:0010628	Facial palsy
10	HP:0003700	Generalized amyotrophy
11	HP:0001639	Hypertrophic cardiomyopathy
12	HP:0001265	Hyporeflexia
13	HP:0006380	Knee flexion contracture
14	HP:0003560	Muscular dystrophy
15	HP:0003715	Myofibrillar myopathy
16	HP:0001611	Nasal speech
17	HP:0001761	Pes cavus
18	HP:0003678	Rapidly progressive
19	HP:0002093	Respiratory insufficiency
20	HP:0002650	Scoliosis
21	HP:0003306	Spinal rigidity

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_004281.3(BAG3):c.280A>T (p.Ile94Phe)	9531	BAG3	Likely benign;Uncertain significance	145393807	RCV000172519; RCV000154684; RCV000203868;	N	MedGen:C2751831,OMIM:612954,ORPHA:199340; MedGen:C3151293,OMIM:613881; MedGen:CN169374; MedGen:CN221809	10	121429462	121429462	NM_004281.3:c.280A>T	NP_004272.2:p.Ile94Phe	NC_000010.10:g.121429462A>T	-	C3151293 613881 Dilated cardiomyopathy 1HH; C2751831 612954 Myofibrillar myopathy, BAG3-related; CN221809 not provided; CN169374 not specified
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr)	9531	BAG3	Benign;Likely benign	61756328	RCV000183309; RCV000037894; RCV000205166;	N	MedGen:C2751831,OMIM:612954,ORPHA:199340; MedGen:C3151293,OMIM:613881; MedGen:CN169374; MedGen:CN221809	10	121429645	121429645	NM_004281.3:c.463G>A	NP_004272.2:p.Ala155Thr	NC_000010.10:g.121429645G>A	-	C3151293 613881 Dilated cardiomyopathy 1HH; C2751831 612954 Myofibrillar myopathy, BAG3-related; CN221809 not provided; CN169374 not specified
NM_004281.3(BAG3):c.549C>G (p.Ser183=)	9531	BAG3	Benign;Likely benign	112929734	RCV000154685; RCV000206098;	N	MedGen:C2751831,OMIM:612954,ORPHA:199340; MedGen:C3151293,OMIM:613881; MedGen:CN169374	10	121431808	121431808	NM_004281.3:c.549C>G	NP_004272.2:p.Ser183=	NC_000010.10:g.121431808C>G	-	C3151293 613881 Dilated cardiomyopathy 1HH; C2751831 612954 Myofibrillar myopathy, BAG3-related; CN169374 not specified
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu)	9531	BAG3	Pathogenic	121918312	RCV000006347; RCV000183317;	N	MedGen:C2751831,OMIM:612954,ORPHA:199340; MedGen:CN221809	10	121431885	121431885	NM_004281.3:c.626C>T	NP_004272.2:p.Pro209Leu	NC_000010.10:g.121431885C>A,NC_000010.10:g.121431885C>T	OMIM Allelic Variant:603883.0001	C2751831 612954 Myofibrillar myopathy, BAG3-related; CN221809 not provided
NM_004281.3(BAG3):c.626C>A (p.Pro209Gln)	9531	BAG3	Pathogenic	121918312	RCV000144684;	N	MedGen:C2751831,OMIM:612954,ORPHA:199340	10	121431885	121431885	NM_004281.3:c.626C>A	NP_004272.2:p.Pro209Gln	NC_000010.10:g.121431885C>A,NC_000010.10:g.121431885C>T	OMIM Allelic Variant:603883.0010	C2751831 612954 Myofibrillar myopathy, BAG3-related
NM_004281.3(BAG3):c.1586C>G (p.Ala529Gly)	9531	BAG3	Uncertain significance	369690617	RCV000203813;	N	MedGen:C2751831,OMIM:612954,ORPHA:199340; MedGen:C3151293,OMIM:613881	10	121436652	121436652	NM_004281.3:c.1586C>G	NP_004272.2:p.Ala529Gly		-	C3151293 613881 Dilated cardiomyopathy 1HH; C2751831 612954 Myofibrillar myopathy, BAG3-related