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 tremor and dysphagia

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 62)

#	Related Disease	Score	Top Affiliating Genes
1	limb-girdle muscular dystrophy	29.6	TRIM32 TCAP MYOT
2	neuromuscular disease	29.4	TCAP MYOT DES
3	myopathy, myofibrillar, 3	28.2	TRIM32 TCAP MYPN MYOZ1 MYOT LDB3
4	muscular dystrophy	28.1	TRIM32 TCAP NEB MYOT LDB3 FLNC
5	myofibrillar myopathy	27.8	TCAP NEBL NEB MYPN MYOZ1 MYOT
6	myopathy	27.5	TRIM32 TCAP NEB MYPN MYOT LMOD3
7	polycystic kidney disease	10.5
8	kidney disease	10.5
9	autosomal dominant distal myopathy	10.4	MYOT DES
10	colorectal cancer	10.3
11	familial isolated restrictive cardiomyopathy	10.3	MYPN FLNC
12	cardioneuromyopathy with hyaline masses and nemaline rods	10.3	NEB DES
13	childhood-onset nemaline myopathy	10.3	NEB MYPN
14	autosomal recessive limb-girdle muscular dystrophy type 2q	10.2	TCAP MYOT
15	autosomal recessive limb-girdle muscular dystrophy type 2l	10.2	TCAP MYOT
16	autosomal recessive limb-girdle muscular dystrophy type 2c	10.2	TCAP MYOT
17	polycystic kidney disease 1 with or without polycystic liver disease	10.2
18	spinal cord injury	10.2
19	nemaline myopathy 11, autosomal recessive	10.2	MYPN LMOD3
20	muscular dystrophy, limb-girdle, autosomal dominant 2	10.2	TCAP MYOT
21	typical congenital nemaline myopathy	10.2	NEB LMOD3
22	autosomal dominant limb-girdle muscular dystrophy	10.1	MYOT FLNC
23	autosomal recessive limb-girdle muscular dystrophy type 2b	10.1	TCAP MYOT
24	severe congenital nemaline myopathy	10.1	NEB LMOD3
25	central core disease of muscle	10.1	NEB MYOT DES
26	restrictive cardiomyopathy	10.1	MYPN FLNC DES
27	myopathy, myofibrillar, 2	10.1	MYOT LDB3 FLNC
28	myopathy, myofibrillar, 6	10.1	MYOT LDB3 FLNC
29	myopathy, myofibrillar, 5	10.1	MYOT LDB3 FLNC
30	muscular dystrophy, limb-girdle, autosomal dominant 1	10.1	TCAP MYOT DES
31	miyoshi muscular dystrophy	10.1	TCAP MYOT DES
32	atrial standstill 1	10.0	TCAP MYOT DES
33	scapuloperoneal myopathy	10.0	MYOT MYOM3
34	cytoplasmic body myopathy	10.0
35	congenital fiber-type disproportion	9.9	NEB MYOT LMOD3
36	myopathy, congenital	9.9	NEB LMOD3 DES
37	autosomal recessive limb-girdle muscular dystrophy type 2d	9.9	TCAP MYOT MYOM3
38	endocardial fibroelastosis	9.9	NEBL NEB MYPN
39	megacystis-microcolon-intestinal hypoperistalsis syndrome	9.9	LMOD3 DES
40	muscular dystrophy-dystroglycanopathy , type c, 1	9.9	TRIM32 MYOT
41	reducing body myopathy	9.9	TCAP NEB MYOT DES
42	arrhythmogenic right ventricular cardiomyopathy	9.8	MYPN LDB3 DES
43	muscular dystrophy-dystroglycanopathy , type c, 4	9.8	TRIM32 MYOT
44	congenital structural myopathy	9.8	NEB MYPN MYOT LMOD3
45	muscular dystrophy, limb-girdle, autosomal recessive 8	9.8	TRIM32 TCAP
46	muscular dystrophy, limb-girdle, autosomal recessive 6	9.7	TRIM32 TCAP
47	autosomal recessive limb-girdle muscular dystrophy type 2j	9.7	TRIM32 TCAP MYOT
48	muscular dystrophy, limb-girdle, autosomal recessive 7	9.7	TRIM32 TCAP MYOT
49	autosomal recessive limb-girdle muscular dystrophy type 2g	9.7	TRIM32 TCAP MYOT
50	autosomal recessive limb-girdle muscular dystrophy type 2h	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	tremor ³¹	HP:0001337
2	dysphagia ³¹	HP:0002015
3	myopathy ³¹	HP:0003198
4	abnormality of metabolism/homeostasis ³¹	HP:0001939
5	waddling gait ³¹	HP:0002515
6	nasal speech ³¹	HP:0001611
7	proximal muscle weakness ³¹	HP:0003701
8	neck flexor weakness ³¹	HP:0003722
9	proximal amyotrophy ³¹	HP:0007126
10	distal muscle weakness ³¹	HP:0002460
11	absent achilles reflex ³¹	HP:0003438
12	broad-based gait ³¹	HP:0002136
13	elevated serum creatine kinase ³¹	HP:0003236

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
muscle atrophy, proximal
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	9.61	DES FLNC LDB3 LMOD3 MYOZ1 NEB
2	muscle	MP:0005369	9.28	DES FLNC LDB3 LMOD3 MYOZ1 MYPN

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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

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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. ⁶ ⁵⁶ ⁵⁴ ⁶¹	Foroud T...Nichols WC	16380616	2005
2	Autosomal dominant "spheroid body myopathy". ⁶ ⁵⁶ ⁶¹	Goebel HH...Merritt AD	571956	1978
3	Spheroid body myopathy revisited. ⁵⁶ ⁶¹	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 ⁶	Selcen D...Engel AG	20301672	2005
7	Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. ⁶¹ ⁵⁴	Garvey SM...Hauser MA	16801328	2006
8	Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. ⁶¹ ⁵⁴	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 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYOT	Myotilin	Protein Coding	1170.04	Molecular basis known ⁵⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ 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	7.41	DISEASES inferred ¹⁵
4	MYOZ1	Myozenin 1	Protein Coding	6.98	DISEASES inferred ¹⁵
5	PALLD	Palladin, Cytoskeletal Associated Protein	Protein Coding	6.79	DISEASES inferred ¹⁵
6	FLNC	Filamin C	Protein Coding	6.18	DISEASES inferred ¹⁵
7	LDB3	LIM Domain Binding 3	Protein Coding	6.14	DISEASES inferred ¹⁵
8	NEB	Nebulin	Protein Coding	6.11	DISEASES inferred ¹⁵
9	TCAP	Titin-Cap	Protein Coding	6.05	DISEASES inferred ¹⁵
10	LMOD3	Leiomodin 3	Protein Coding	6	DISEASES inferred ¹⁵
11	NEBL	Nebulette	Protein Coding	6	DISEASES inferred ¹⁵
12	SORBS2	Sorbin And SH3 Domain Containing 2	Protein Coding	5.95	DISEASES inferred ¹⁵
13	TRIM32	Tripartite Motif Containing 32	Protein Coding	5.75	DISEASES inferred ¹⁵
14	MYOM3	Myomesin 3	Protein Coding	5.66	DISEASES inferred ¹⁵

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Variations for Myopathy, Spheroid Body

ClinVar genetic disease variations for Myopathy, Spheroid Body:

⁶ (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.533G>A (p.Arg178His)	SNV	Conflicting interpretations of pathogenicity	351025	rs150293853	5:137213210-137213210	5:137877521-137877521
3	MYOT	NM_006790.2(MYOT):c.343G>T (p.Ala115Ser)	SNV	Conflicting interpretations of pathogenicity	351023	rs114194130	5:137206683-137206683	5:137870994-137870994
4	MYOT	NM_006790.2(MYOT):c.323A>C (p.Asn108Thr)	SNV	Conflicting interpretations of pathogenicity	281070	rs142416150	5:137206663-137206663	5:137870974-137870974
5	MYOT	NM_006790.2(MYOT):c.*418T>C	SNV	Uncertain significance	351033	rs778508971	5:137223492-137223492	5:137887803-137887803
6	MYOT	NM_006790.2(MYOT):c.-89del	deletion	Uncertain significance	351021	rs886059966	5:137206252-137206252	5:137870563-137870563
7	MYOT	NM_006790.2(MYOT):c.817-11T>C	SNV	Uncertain significance	351026	rs377759571	5:137219062-137219062	5:137883373-137883373
8	MYOT	NM_006790.2(MYOT):c.*167A>G	SNV	Uncertain significance	351031	rs886059969	5:137223241-137223241	5:137887552-137887552
9	MYOT	NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)	SNV	Uncertain significance	288959	rs144731446	5:137222648-137222648	5:137886959-137886959
10	MYOT	NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu)	SNV	Uncertain significance	167318	rs78633961	5:137222565-137222565	5:137886876-137886876
11	MYOT	NM_006790.2(MYOT):c.-165C>T	SNV	Uncertain significance	351020	rs866748883	5:137206176-137206176	5:137870487-137870487
12	MYOT	NM_006790.2(MYOT):c.1222T>C (p.Leu408=)	SNV	Uncertain significance	351028	rs886059968	5:137222584-137222584	5:137886895-137886895
13	MYOT	NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)	SNV	Uncertain significance	351029	rs145427063	5:137222978-137222978	5:137887289-137887289
14	MYOT	NM_006790.2(MYOT):c.335T>A (p.Ile112Asn)	SNV	Uncertain significance	351022	rs752723849	5:137206675-137206675	5:137870986-137870986
15	MYOT	NM_006790.2(MYOT):c.-251A>G	SNV	Likely benign	351018	rs6863775	5:137203603-137203603	5:137867914-137867914
16	MYOT	NM_006790.2(MYOT):c.-233C>A	SNV	Likely benign	351019	rs186433387	5:137203621-137203621	5:137867932-137867932
17	MYOT	NM_006790.2(MYOT):c.*463C>T	SNV	Likely benign	351034	rs149535236	5:137223537-137223537	5:137887848-137887848
18	MYOT	NM_006790.2(MYOT):c.1190+12A>G	SNV	Likely benign	351027	rs183456886	5:137221914-137221914	5:137886225-137886225
19	MYOT	NM_006790.2(MYOT):c.*190C>G	SNV	Likely benign	351032	rs74711051	5:137223264-137223264	5:137887575-137887575
20	MYOT	NM_006790.2(MYOT):c.981T>C (p.Asn327=)	SNV	Likely benign	198547	rs148479015	5:137219237-137219237	5:137883548-137883548
21	MYOT	NM_006790.2(MYOT):c.1008G>T (p.Val336=)	SNV	Benign/Likely benign	198548	rs142828368	5:137219264-137219264	5:137883575-137883575
22	MYOT	NM_006790.2(MYOT):c.780G>A (p.Ser260=)	SNV	Benign/Likely benign	129684	rs116773838	5:137217758-137217758	5:137882069-137882069
23	MYOT	NM_006790.2(MYOT):c.149A>G (p.Gln50Arg)	SNV	Benign/Likely benign	129683	rs34717730	5:137206489-137206489	5:137870800-137870800
24	MYOT	NM_006790.2(MYOT):c.617G>A (p.Gly206Asp)	SNV	Benign/Likely benign	95441	rs151094883	5:137213294-137213294	5:137877605-137877605
25	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	10.66	TCAP NEB 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 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.07	TRIM32 TCAP SORBS2 PALLD NEBL NEB
2	cytoskeleton	GO:0005856	9.91	PALLD NEB MYOT LMOD3 LDB3 FLNC
3	sarcolemma	GO:0042383	9.58	MYOT FLNC DES
4	actin cytoskeleton	GO:0015629	9.55	SORBS2 PALLD NEB MYOZ1 MYOT
5	myofibril	GO:0030016	9.51	NEB LMOD3
6	I band	GO:0031674	9.5	TCAP NEBL MYPN
7	M band	GO:0031430	9.49	MYOM3 LMOD3
8	pseudopodium	GO:0031143	9.48	MYOZ1 LDB3
9	contractile fiber	GO:0043292	9.46	NEB DES
10	striated muscle thin filament	GO:0005865	9.43	MYOM3 LMOD3
11	Z disc	GO:0030018	9.4	TCAP SORBS2 PALLD NEBL NEB MYPN
12	sarcomere	GO:0030017	9.26	TCAP NEB MYPN MYOM3

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:0007411	9.71	PALLD MYPN MYOT
2	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.7	PALLD MYPN MYOT
3	muscle contraction	GO:0006936	9.56	MYOT MYOM3 LMOD3 DES
4	dendrite self-avoidance	GO:0070593	9.51	PALLD MYPN
5	muscle filament sliding	GO:0030049	9.5	TCAP NEB DES
6	cardiac myofibril assembly	GO:0055003	9.49	TCAP MYOM3
7	cardiac muscle tissue morphogenesis	GO:0055008	9.48	TCAP MYOM3
8	myofibril assembly	GO:0030239	9.46	MYOZ1 LMOD3
9	cardiac muscle fiber development	GO:0048739	9.43	TCAP MYOM3
10	skeletal muscle myosin thick filament assembly	GO:0030241	9.4	TCAP MYOM3
11	cardiac muscle thin filament assembly	GO:0071691	9.37	NEBL NEB
12	muscle fiber development	GO:0048747	9.33	NEBL NEB FLNC
13	skeletal muscle thin filament assembly	GO:0030240	9.13	TCAP MYOM3 LMOD3
14	sarcomere organization	GO:0045214	9.02	TCAP MYPN MYOZ1 MYOM3 LDB3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.7	PALLD NEBL MYPN MYOZ1 MYOT LDB3
2	cytoskeletal protein binding	GO:0008092	9.65	NEBL MYPN LDB3 FLNC DES
3	actin filament binding	GO:0051015	9.61	NEBL NEB MYOM3
4	cell-cell adhesion mediator activity	GO:0098632	9.4	PALLD MYPN
5	tropomyosin binding	GO:0005523	9.37	NEBL LMOD3
6	FATZ binding	GO:0051373	9.32	TCAP MYOZ1
7	muscle alpha-actinin binding	GO:0051371	9.26	PALLD MYPN MYOM3 LDB3
8	structural constituent of muscle	GO:0008307	9.1	TCAP SORBS2 NEBL NEB MYOT MYOM3

Sources

Sources for Myopathy, Spheroid Body

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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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:

External Ids:

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:

Clinical features from OMIM:

UMLS symptoms related to Myopathy, Spheroid Body:

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

Drugs & Therapeutics for Myopathy, Spheroid Body

Genetic Tests for Myopathy, Spheroid Body

Genetic tests related to Myopathy, Spheroid Body:

Anatomical Context for Myopathy, Spheroid Body

Publications for Myopathy, Spheroid Body

Articles related to Myopathy, Spheroid Body:

Genes for Myopathy, Spheroid Body

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

Variations for Myopathy, Spheroid Body

ClinVar genetic disease variations for Myopathy, Spheroid Body:

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

Expression for Myopathy, Spheroid Body

Pathways for Myopathy, Spheroid Body

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

GO Terms for Myopathy, Spheroid Body

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