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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: Muscular Diseases (D009135)
..Starting node ..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
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:

7689

Name:

MYOPATHY, MYOFIBRILLAR, 4

Definition:

Alternative IDs:

ParentIDs:

MESH:D009135

TreeNumbers:

C05.651/609452 |C10.668.491/609452

Synonyms:

MFM4

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 609452
MeSH: 609452
OMIM: 609452;

Genes: LDB3;

Phenotypes

1	HP:0003736	Autophagic vacuoles
2	HP:0000006	Autosomal dominant inheritance
3	HP:0003584	Late onset
4	HP:0001638	Cardiomyopathy
5	HP:0003236	Elevated circulating creatine kinase concentration
6	HP:0003458	EMG: myopathic abnormalities
7	HP:0003445	EMG: neuropathic changes
8	HP:0002600	Hyporeflexia of lower limbs
9	HP:0003555	Muscle fiber splitting
10	HP:0003715	Myofibrillar myopathy
11	HP:0001271	Polyneuropathy
12	HP:0009063	Progressive distal muscle weakness
13	HP:0003323	Progressive muscle weakness
14	HP:0009073	Progressive proximal muscle weakness

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_007078.2(LDB3):c.576G>T (p.Pro192=)	11155	LDB3	Benign	45543741	RCV000205033; RCV000038761;	N	MedGen:C1836155,OMIM:609452,ORPHA:98912; MedGen:CN169374	10	88441447	88441447	NM_007078.2:c.576G>T	NP_009009.1:p.Pro192=	NC_000010.10:g.88441447G>A,NC_000010.10:g.88441447G>T	-	C1836155 609452 Myofibrillar myopathy, ZASP-related; CN169374 not specified
NM_001080116.1(LDB3):c.439G>A (p.Ala147Thr)	11155	LDB3	Pathogenic	121908333	RCV000004992;	N	MedGen:C1836155,OMIM:609452,ORPHA:98912	10	88446920	88446920	NM_001080116.1:c.439G>A	NP_001073585.1:p.Ala147Thr	NC_000010.10:g.88446920G>A	OMIM Allelic Variant:605906.0001	C1836155 609452 Myofibrillar myopathy, ZASP-related
NM_001080116.1(LDB3):c.440C>T (p.Ala147Val)	11155	LDB3	Pathogenic	281865143	RCV000033938;	N	MedGen:C1836155,OMIM:609452,ORPHA:98912	10	88446921	88446921	NM_001080116.1:c.440C>T	NP_001073585.1:p.Ala147Val	NC_000010.10:g.88446921C>T	-	C1836155 609452 Myofibrillar myopathy, ZASP-related
NM_001080116.1(LDB3):c.494C>T (p.Ala165Val)	11155	LDB3	Pathogenic	121908334	RCV000004993; RCV000036847;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C1836155,OMIM:609452,ORPHA:98912	10	88446975	88446975	NM_001080116.1:c.494C>T	NP_001073585.1:p.Ala165Val	NC_000010.10:g.88446975C>T	OMIM Allelic Variant:605906.0002	C1836155 609452 Myofibrillar myopathy, ZASP-related; C0007193 Primary dilated cardiomyopathy
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg)	11155	LDB3	Benign	34423165	RCV000205724; RCV000030121; RCV000038768;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C1836155,OMIM:609452,ORPHA:98912; MedGen:CN169374	10	88451715	88451715	NM_001080116.1:c.611A>G	NP_001073585.1:p.Lys204Arg	NC_000010.10:g.88451715A>G	-	C0878544 Cardiomyopathy; C1836155 609452 Myofibrillar myopathy, ZASP-related; CN169374 not specified
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys)	11155	LDB3	Pathogenic;Uncertain significance	121908335	RCV000004994; RCV000154745;	N	MedGen:C1836155,OMIM:609452,ORPHA:98912; MedGen:CN169374	10	88459081	88459081	NM_001080116.1:c.802C>T	NP_001073585.1:p.Arg268Cys	NC_000010.10:g.88459081C>T	OMIM Allelic Variant:605906.0003	C1836155 609452 Myofibrillar myopathy, ZASP-related; CN169374 not specified
NM_007078.2(LDB3):c.1594G>C (p.Ala532Pro)	11155	LDB3	Uncertain significance	143764931	RCV000204915; RCV000183539;	N	MedGen:C1836155,OMIM:609452,ORPHA:98912; MedGen:CN169374	10	88476446	88476446	NM_007078.2:c.1594G>C	NP_009009.1:p.Ala532Pro	NC_000010.10:g.88476446G>C	-	C1836155 609452 Myofibrillar myopathy, ZASP-related; CN169374 not specified