Myopathy, Spheroid Body disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Myopathy, Spheroid Body

MalaCards integrated aliases for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body ⁵⁶ ¹³ ³⁹

Spheroid Body Myopathy ¹² ⁵² ⁵⁸ ⁷³ ³⁶ ²⁹ ⁵⁴ ⁶ ¹⁵ ⁷¹

Autosomal Dominant Spheroid Body Myopathy ⁵²

Sbm ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

spheroid body myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
highly variable severity
onset usually in third or fourth decade
onset in adolescence or young adulthood has been reported

HPO:

³¹

myopathy, spheroid body:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity onset slow progression

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Other primary disorders of muscles

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0080091

OMIM ⁵⁶ 182920

OMIM Phenotypic Series ⁵⁶ PS601419

KEGG ³⁶ H01291

ICD10 via Orphanet ³³ G71.8

UMLS via Orphanet ⁷² C1866785

Orphanet ⁵⁸ ORPHA268129

MedGen ⁴¹ C1866785

SNOMED-CT via HPO ⁶⁸ 129565002 229645001 249939004 more

UMLS ⁷¹ C1866785

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Summaries for Myopathy, Spheroid Body

OMIM : ⁵⁶ Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (182920)

MalaCards based summary : Myopathy, Spheroid Body, also known as spheroid body myopathy, is related to limb-girdle muscular dystrophy and neuromuscular disease, and has symptoms including waddling gait An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways/superpathways is Striated Muscle Contraction. Related phenotypes are myopathy and abnormality of metabolism/homeostasis

Disease Ontology : ¹² A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has material basis in heterozygous mutation in the myotilin gene on chromosome 5q31.

KEGG : ³⁶ Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles.

UniProtKB/Swiss-Prot : ⁷³ Spheroid body myopathy: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.

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Related Diseases for Myopathy, Spheroid Body

Diseases related to Myopathy, Spheroid Body via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	limb-girdle muscular dystrophy	29.3	TRIM32 TCAP MYOT FLNC
2	neuromuscular disease	29.3	TCAP NEB MYOT LDB3 DES
3	myofibrillar myopathy	27.9	TCAP NEB MYPN MYOZ1 MYOT LDB3
4	myopathy, myofibrillar, 3	27.9	TRIM32 TCAP MYPN MYOZ1 MYOT LDB3
5	muscular dystrophy	27.8	TRIM32 TCAP NEB MYOT LDB3 FLNC
6	myopathy	26.8	TRIM32 TCAP NEB MYPN MYOZ1 MYOT
7	polycystic kidney disease	10.5
8	kidney disease	10.5
9	reducing body myopathy	10.4	NEB DES
10	autosomal dominant distal myopathy	10.4	MYOT DES
11	colorectal cancer	10.3
12	familial isolated restrictive cardiomyopathy	10.3	MYPN FLNC
13	cardioneuromyopathy with hyaline masses and nemaline rods	10.3	NEB DES
14	childhood-onset nemaline myopathy	10.3	NEB MYPN
15	cardiomyopathy, familial restrictive, 2	10.3	MYPN FLNC
16	nemaline myopathy 11, autosomal recessive	10.2	MYPN LMOD3
17	typical congenital nemaline myopathy	10.2	NEB LMOD3
18	severe congenital nemaline myopathy	10.2	NEB LMOD3
19	scapuloperoneal syndrome, neurogenic, kaeser type	10.2	NEB MYOT DES
20	polycystic kidney disease 1 with or without polycystic liver disease	10.2
21	silver-russell syndrome 2	10.2
22	spinal cord injury	10.2
23	central core disease of muscle	10.2	NEB MYOT DES
24	nemaline myopathy 10	10.2	MYPN LMOD3
25	autosomal recessive limb-girdle muscular dystrophy type 2q	10.1	TCAP MYOT
26	hyaline body myopathy	10.1	NEB MYOT
27	autosomal recessive limb-girdle muscular dystrophy type 2c	10.1	TCAP MYOT
28	autosomal recessive limb-girdle muscular dystrophy type 2f	10.1	TCAP MYOT
29	nemaline myopathy 3	10.1	NEB MYPN LMOD3
30	nemaline myopathy 2	10.1	NEB MYPN LMOD3
31	muscular dystrophy, limb-girdle, autosomal dominant 2	10.0	TCAP MYOT
32	congenital fiber-type disproportion	10.0	NEB MYOT LMOD3
33	cytoplasmic body myopathy	10.0
34	muscular dystrophy-dystroglycanopathy , type c, 1	10.0	TRIM32 MYOT
35	atrial standstill 1	10.0	TCAP MYOT DES
36	autosomal recessive limb-girdle muscular dystrophy type 2b	10.0	TCAP MYOT
37	muscular dystrophy-dystroglycanopathy , type c, 4	9.9	TRIM32 MYOT
38	autosomal recessive limb-girdle muscular dystrophy type 2d	9.9	TCAP MYOT
39	muscular dystrophy, limb-girdle, autosomal dominant 1	9.9	TCAP MYOT BAG3
40	muscular dystrophy, limb-girdle, autosomal recessive 8	9.8	TRIM32 TCAP
41	restrictive cardiomyopathy	9.8	MYPN FLNC DES BAG3
42	myopathy, myofibrillar, 2	9.8	MYOT LDB3 FLNC BAG3
43	muscular dystrophy, limb-girdle, autosomal recessive 6	9.8	TRIM32 TCAP
44	muscular dystrophy, congenital, lmna-related	9.8	MYOZ1 MYOT LDB3
45	miyoshi muscular dystrophy	9.8	TCAP NEB MYOT DES
46	muscular dystrophy, limb-girdle, autosomal recessive 7	9.8	TRIM32 TCAP MYOT
47	autosomal recessive limb-girdle muscular dystrophy type 2j	9.8	TRIM32 TCAP MYOT
48	autosomal recessive limb-girdle muscular dystrophy type 2h	9.8	TRIM32 TCAP MYOT
49	autosomal recessive limb-girdle muscular dystrophy type 2g	9.8	TRIM32 TCAP MYOT
50	autosomal recessive limb-girdle muscular dystrophy type 2a	9.7	TRIM32 TCAP MYOT

Graphical network of the top 20 diseases related to Myopathy, Spheroid Body:

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Symptoms & Phenotypes for Myopathy, Spheroid Body

Human phenotypes related to Myopathy, Spheroid Body:

³¹ (show all 13)

#	Description	HPO Source Accession
1	myopathy ³¹	HP:0003198
2	abnormality of metabolism/homeostasis ³¹	HP:0001939
3	dysphagia ³¹	HP:0002015
4	elevated serum creatine kinase ³¹	HP:0003236
5	tremor ³¹	HP:0001337
6	waddling gait ³¹	HP:0002515
7	nasal speech ³¹	HP:0001611
8	broad-based gait ³¹	HP:0002136
9	proximal amyotrophy ³¹	HP:0007126
10	distal muscle weakness ³¹	HP:0002460
11	proximal muscle weakness ³¹	HP:0003701
12	absent achilles reflex ³¹	HP:0003438
13	neck flexor weakness ³¹	HP:0003722

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Gastrointestinal:
dysphagia

Voice:
nasal speech

Head And Neck Neck:
neck flexor muscle weakness

Muscle Soft Tissue:
waddling gait
broad-based gait
muscle weakness, proximal
muscle weakness, distal
myopathic features seen on emg
more

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory difficulties due to muscle weakness in some patients

Clinical features from OMIM:

182920

UMLS symptoms related to Myopathy, Spheroid Body:

waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.9	BAG3 DES FLNC LDB3 LMOD3 MYOM1
2	cardiovascular system	MP:0005385	9.56	BAG3 DES FLNC LDB3 LMOD3 MYPN
3	muscle	MP:0005369	9.32	BAG3 DES FLNC LDB3 LMOD3 MYOZ1

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Drugs & Therapeutics for Myopathy, Spheroid Body

Search Clinical Trials , NIH Clinical Center for Myopathy, Spheroid Body

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Genetic Tests for Myopathy, Spheroid Body

Genetic tests related to Myopathy, Spheroid Body:

#	Genetic test	Affiliating Genes
1	Spheroid Body Myopathy ²⁹	MYOT

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Anatomical Context for Myopathy, Spheroid Body

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Publications for Myopathy, Spheroid Body

Articles related to Myopathy, Spheroid Body:

(show all 19)

#	Title	Authors	PMID	Year
1	A mutation in myotilin causes spheroid body myopathy. ⁶¹ ⁵⁴ ⁶ ⁵⁶	Foroud T...Nichols WC	16380616	2005
2	Autosomal dominant "spheroid body myopathy". ⁶¹ ⁶ ⁵⁶	Goebel HH...Merritt AD	571956	1978
3	Spheroid body myopathy revisited. ⁶¹ ⁵⁶	Goebel HH...Muller J	9270668	1997
4	Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. ⁶	Narayanaswami P...Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine	25313375	2014
5	BAG3-related myofibrillar myopathy in a Chinese family. ⁶	Lee HC...Mak CM	21361913	2012
6	Myofibrillar Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	Selcen D...Engel AG	20301672	2005
7	Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. ⁵⁴ ⁶¹	Garvey SM...Hauser MA	16801328	2006
8	Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. ⁵⁴ ⁶¹	Nakano S...Busis NA	8627346	1996
9	Expression of myotilin during chicken development. ⁶¹	Dube DK...Sanger JW	25125173	2014
10	[Myofibrillar myopaathy]. ⁶¹	Hayashi Y	24291893	2013
11	Protein aggregation in congenital myopathies. ⁶¹	Goebel HH...Blaschek A	22172423	2011
12	Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? ⁶¹	Gamez J...Olive M	19027924	2009
13	Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. ⁶¹	Moza M...Carpen O	17074808	2007
14	[Spheroid body myopathy: case report]. ⁶¹	Scola RH...Werneck LC	16100986	2005
15	[Cytoplasmic body myopathy (spheroid body myopathy)]. ⁶¹	Hara H...Wakayama Y	11555982	2001
16	Familial desmin myopathies and cytoplasmic body myopathies. ⁵⁴	Baeta AM...Pellissier JF	8922062	1996
17	Desmin pathology in neuromuscular diseases. ⁶¹	Goebel HH...Bornemann A	8242173	1993
18	Congenital myopathies with "diagnostic" pathological features. ⁶¹	Korenyi-Both A...Korenyi-Both I	3323392	1987
19	Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus. ⁶¹	Chou SM...Mizuno Y	3014329	1986

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Genes for Myopathy, Spheroid Body

Genes related to Myopathy, Spheroid Body (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYOT	Myotilin	Protein Coding	1270.08	Molecular basis known ⁵⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16380616 16801328
2	DES	Desmin	Protein Coding	9.1	Novoseek inferred ⁵⁴	8627346 8922062
3	MYPN	Myopalladin	Protein Coding	7.23	DISEASES inferred ¹⁵
4	MYOZ1	Myozenin 1	Protein Coding	6.82	DISEASES inferred ¹⁵
5	PALLD	Palladin, Cytoskeletal Associated Protein	Protein Coding	6.7	DISEASES inferred ¹⁵
6	FLNC	Filamin C	Protein Coding	6.4	DISEASES inferred ¹⁵
7	LDB3	LIM Domain Binding 3	Protein Coding	6.19	DISEASES inferred ¹⁵
8	NEB	Nebulin	Protein Coding	5.92	DISEASES inferred ¹⁵
9	LMOD3	Leiomodin 3	Protein Coding	5.9	DISEASES inferred ¹⁵
10	SORBS2	Sorbin And SH3 Domain Containing 2	Protein Coding	5.89	DISEASES inferred ¹⁵
11	BAG3	BAG Cochaperone 3	Protein Coding	5.85	DISEASES inferred ¹⁵
12	TCAP	Titin-Cap	Protein Coding	5.85	DISEASES inferred ¹⁵
13	TRIM32	Tripartite Motif Containing 32	Protein Coding	5.71	DISEASES inferred ¹⁵
14	NEBL	Nebulette	Protein Coding	5.7	DISEASES inferred ¹⁵
15	MYOM1	Myomesin 1	Protein Coding	5.63	DISEASES inferred ¹⁵

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Variations for Myopathy, Spheroid Body

ClinVar genetic disease variations for Myopathy, Spheroid Body:

⁶ (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MYOT	NM_006790.2(MYOT):c.116C>T (p.Ser39Phe)	SNV	Likely pathogenic	5839	rs121908461	5:137206456-137206456	5:137870767-137870767
2	MYOT	NM_006790.2(MYOT):c.120T>A (p.Ile40=)	SNV	Conflicting interpretations of pathogenicity	95438	rs139254363	5:137206460-137206460	5:137870771-137870771
3	MYOT	NM_006790.2(MYOT):c.323A>C (p.Asn108Thr)	SNV	Conflicting interpretations of pathogenicity	281070	rs142416150	5:137206663-137206663	5:137870974-137870974
4	MYOT	NM_006790.2(MYOT):c.343G>T (p.Ala115Ser)	SNV	Conflicting interpretations of pathogenicity	351023	rs114194130	5:137206683-137206683	5:137870994-137870994
5	MYOT	NM_006790.2(MYOT):c.533G>A (p.Arg178His)	SNV	Conflicting interpretations of pathogenicity	351025	rs150293853	5:137213210-137213210	5:137877521-137877521
6	MYOT	NM_006790.2(MYOT):c.817-11T>C	SNV	Uncertain significance	351026	rs377759571	5:137219062-137219062	5:137883373-137883373
7	MYOT	NM_006790.3(MYOT):c.356+13T>G	SNV	Uncertain significance	903902		5:137206709-137206709	5:137871020-137871020
8	MYOT	NM_006790.2(MYOT):c.335T>A (p.Ile112Asn)	SNV	Uncertain significance	351022	rs752723849	5:137206675-137206675	5:137870986-137870986
9	MYOT	NM_006790.2(MYOT):c.*167A>G	SNV	Uncertain significance	351031	rs886059969	5:137223241-137223241	5:137887552-137887552
10	MYOT	NM_006790.2(MYOT):c.*418T>C	SNV	Uncertain significance	351033	rs778508971	5:137223492-137223492	5:137887803-137887803
11	MYOT	NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu)	SNV	Uncertain significance	167318	rs78633961	5:137222565-137222565	5:137886876-137886876
12	MYOT	NM_006790.2(MYOT):c.-165C>T	SNV	Uncertain significance	351020	rs866748883	5:137206176-137206176	5:137870487-137870487
13	MYOT	NM_006790.2(MYOT):c.1222T>C (p.Leu408=)	SNV	Uncertain significance	351028	rs886059968	5:137222584-137222584	5:137886895-137886895
14	MYOT	NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)	SNV	Uncertain significance	351029	rs145427063	5:137222978-137222978	5:137887289-137887289
15	MYOT	NM_006790.2(MYOT):c.-89del	deletion	Uncertain significance	351021	rs886059966	5:137206251-137206251	5:137870562-137870562
16	MYOT	NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)	SNV	Uncertain significance	288959	rs144731446	5:137222648-137222648	5:137886959-137886959
17	MYOT	NM_006790.2(MYOT):c.629C>T (p.Ser210Leu)	SNV	Uncertain significance	598376	rs756669574	5:137213306-137213306	5:137877617-137877617
18	MYOT	NM_006790.3(MYOT):c.-286C>G	SNV	Uncertain significance	903840		5:137203568-137203568	5:137867879-137867879
19	MYOT	NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)	SNV	Uncertain significance	906249		5:137206483-137206483	5:137870794-137870794
20	MYOT	NM_006790.3(MYOT):c.191T>A (p.Met64Lys)	SNV	Uncertain significance	906250		5:137206531-137206531	5:137870842-137870842
21	MYOT	NM_006790.3(MYOT):c.348G>A (p.Met116Ile)	SNV	Uncertain significance	903901		5:137206688-137206688	5:137870999-137870999
22	MYOT	NM_006790.3(MYOT):c.1458G>A (p.Leu486=)	SNV	Uncertain significance	906366		5:137223035-137223035	5:137887346-137887346
23	MYOT	NM_006790.3(MYOT):c.*50T>G	SNV	Uncertain significance	906367		5:137223124-137223124	5:137887435-137887435
24	MYOT	NM_006790.3(MYOT):c.*188A>C	SNV	Uncertain significance	906368		5:137223262-137223262	5:137887573-137887573
25	MYOT	NM_006790.3(MYOT):c.*311A>T	SNV	Uncertain significance	907372		5:137223385-137223385	5:137887696-137887696
26	MYOT	NM_006790.3(MYOT):c.*372G>A	SNV	Uncertain significance	907373		5:137223446-137223446	5:137887757-137887757
27	MYOT	NM_006790.2(MYOT):c.981T>C (p.Asn327=)	SNV	Likely benign	198547	rs148479015	5:137219237-137219237	5:137883548-137883548
28	MYOT	NM_006790.2(MYOT):c.1190+12A>G	SNV	Likely benign	351027	rs183456886	5:137221914-137221914	5:137886225-137886225
29	MYOT	NM_006790.2(MYOT):c.*190C>G	SNV	Benign/Likely benign	351032	rs74711051	5:137223264-137223264	5:137887575-137887575
30	MYOT	NM_006790.2(MYOT):c.1008G>T (p.Val336=)	SNV	Benign/Likely benign	198548	rs142828368	5:137219264-137219264	5:137883575-137883575
31	MYOT	NM_006790.2(MYOT):c.*463C>T	SNV	Benign/Likely benign	351034	rs149535236	5:137223537-137223537	5:137887848-137887848
32	MYOT	NM_006790.3(MYOT):c.*404G>A	SNV	Benign/Likely benign	904036		5:137223478-137223478	5:137887789-137887789
33	MYOT	NM_006790.2(MYOT):c.-251A>G	SNV	Benign/Likely benign	351018	rs6863775	5:137203603-137203603	5:137867914-137867914
34	MYOT	NM_006790.2(MYOT):c.-233C>A	SNV	Benign/Likely benign	351019	rs186433387	5:137203621-137203621	5:137867932-137867932
35	MYOT	NM_006790.2(MYOT):c.343G>A (p.Ala115Thr)	SNV	Benign/Likely benign	95439	rs114194130	5:137206683-137206683	5:137870994-137870994
36	MYOT	NM_006790.2(MYOT):c.445G>C (p.Glu149Gln)	SNV	Benign/Likely benign	95440	rs71578935	5:137211606-137211606	5:137875917-137875917
37	MYOT	NM_006790.2(MYOT):c.617G>A (p.Gly206Asp)	SNV	Benign/Likely benign	95441	rs151094883	5:137213294-137213294	5:137877605-137877605
38	MYOT	NM_006790.2(MYOT):c.149A>G (p.Gln50Arg)	SNV	Benign/Likely benign	129683	rs34717730	5:137206489-137206489	5:137870800-137870800
39	MYOT	NM_006790.2(MYOT):c.780G>A (p.Ser260=)	SNV	Benign/Likely benign	129684	rs116773838	5:137217758-137217758	5:137882069-137882069
40	MYOT	NM_006790.2(MYOT):c.*98G>A	SNV	Benign	351030	rs4288	5:137223172-137223172	5:137887483-137887483

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Spheroid Body:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MYOT	p.Ser39Phe	VAR_029532

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Expression for Myopathy, Spheroid Body

Search GEO for disease gene expression data for Myopathy, Spheroid Body.

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Pathways for Myopathy, Spheroid Body

Pathways related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Striated Muscle Contraction ⁶⁵ ¹	10.78	TCAP NEB MYOM1 DES

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GO Terms for Myopathy, Spheroid Body

Cellular components related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.1	TRIM32 TCAP SORBS2 PALLD NEBL NEB
2	cytoskeleton	GO:0005856	9.98	PALLD NEB MYOT LMOD3 LDB3 FLNC
3	actin cytoskeleton	GO:0015629	9.72	SORBS2 PALLD NEB MYOZ1 MYOT
4	sarcolemma	GO:0042383	9.65	MYOT FLNC DES
5	I band	GO:0031674	9.54	TCAP NEBL MYPN
6	M band	GO:0031430	9.52	MYOM1 LMOD3
7	contractile fiber	GO:0043292	9.51	NEB DES
8	pseudopodium	GO:0031143	9.49	MYOZ1 LDB3
9	striated muscle thin filament	GO:0005865	9.46	MYOM1 LMOD3
10	stress fiber	GO:0001725	9.46	PALLD NEBL LDB3 BAG3
11	Z disc	GO:0030018	9.44	TCAP SORBS2 PALLD NEBL NEB MYPN
12	striated muscle myosin thick filament	GO:0005863	9.4	TRIM32 MYOM1
13	sarcomere	GO:0030017	9.26	TCAP NEB MYPN MYOM1

Biological processes related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.73	PALLD MYPN MYOT
2	actin filament organization	GO:0007015	9.71	SORBS2 MYOM1 LMOD3
3	muscle contraction	GO:0006936	9.56	MYOT MYOM1 LMOD3 DES
4	muscle cell cellular homeostasis	GO:0046716	9.55	TRIM32 BAG3
5	striated muscle contraction	GO:0006941	9.52	MYOM1 LMOD3
6	dendrite self-avoidance	GO:0070593	9.51	PALLD MYPN
7	muscle filament sliding	GO:0030049	9.5	TCAP NEB DES
8	cardiac muscle tissue morphogenesis	GO:0055008	9.49	TCAP MYOM1
9	cardiac myofibril assembly	GO:0055003	9.48	TCAP MYOM1
10	myofibril assembly	GO:0030239	9.46	MYOZ1 LMOD3
11	cardiac muscle fiber development	GO:0048739	9.43	TCAP MYOM1
12	skeletal muscle myosin thick filament assembly	GO:0030241	9.4	TCAP MYOM1
13	cardiac muscle thin filament assembly	GO:0071691	9.37	NEBL NEB
14	muscle fiber development	GO:0048747	9.33	NEBL NEB FLNC
15	skeletal muscle thin filament assembly	GO:0030240	9.13	TCAP MYOM1 LMOD3
16	sarcomere organization	GO:0045214	9.02	TCAP MYPN MYOZ1 MYOM1 LDB3

Molecular functions related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.25	TRIM32 TCAP SORBS2 PALLD NEBL NEB
2	cytoskeletal protein binding	GO:0008092	9.65	NEBL MYPN LDB3 FLNC DES
3	actin filament binding	GO:0051015	9.63	NEBL NEB MYOM1
4	actin binding	GO:0003779	9.56	PALLD NEBL NEB MYPN MYOZ1 MYOT
5	muscle alpha-actinin binding	GO:0051371	9.46	PALLD MYPN MYOM1 LDB3
6	cell-cell adhesion mediator activity	GO:0098632	9.43	PALLD MYPN
7	tropomyosin binding	GO:0005523	9.37	NEBL LMOD3
8	FATZ binding	GO:0051373	9.32	TCAP MYOZ1
9	structural constituent of muscle	GO:0008307	9.1	TCAP SORBS2 NEBL NEB MYOT MYOM1

Sources

Sources for Myopathy, Spheroid Body

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Myopathy, Spheroid Body (SBM)

Aliases & Classifications for Myopathy, Spheroid Body

MalaCards integrated aliases for Myopathy, Spheroid Body:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

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Summaries for Myopathy, Spheroid Body

Related Diseases for Myopathy, Spheroid Body

Diseases related to Myopathy, Spheroid Body via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Myopathy, Spheroid Body:

Symptoms & Phenotypes for Myopathy, Spheroid Body

Human phenotypes related to Myopathy, Spheroid Body:

Symptoms via clinical synopsis from OMIM:

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MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

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Genetic tests related to Myopathy, Spheroid Body:

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Genes related to Myopathy, Spheroid Body (1 elite genes):

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Expression for Myopathy, Spheroid Body

Pathways for Myopathy, Spheroid Body

Pathways related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

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Cellular components related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

Biological processes related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

Molecular functions related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

Sources for Myopathy, Spheroid Body