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

SBM MCID: MYP094 MIFTS: 44	Myopathy, Spheroid Body (SBM) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Myopathy, Spheroid Body

MalaCards integrated aliases for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body ⁵⁷ ¹³ ³⁹

Spheroid Body Myopathy ¹² ²⁰ ⁵⁸ ⁷² ³⁶ ²⁹ ⁵⁴ ⁶ ¹⁵ ⁷⁰

Autosomal Dominant Spheroid Body Myopathy ²⁰

Sbm ⁷²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 20-May-2021)

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® ⁵⁷ 182920

OMIM Phenotypic Series ⁵⁷ PS601419

KEGG ³⁶ H01291

ICD10 via Orphanet ³³ G71.8

UMLS via Orphanet ⁷¹ C1866785

Orphanet ⁵⁸ ORPHA268129

MedGen ⁴¹ C1866785

SNOMED-CT via HPO ⁶⁸ 129565002 229645001 249939004 more

UMLS ⁷⁰ C1866785

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Summaries for Myopathy, Spheroid Body

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

MalaCards based summary : Myopathy, Spheroid Body, also known as spheroid body myopathy, is related to neuromuscular disease and myopathy, myofibrillar, 3, 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. Affiliated tissues include kidney, spinal cord and liver, and related phenotypes are tremor and dysphagia

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 : ⁷² 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 88)

#	Related Disease	Score	Top Affiliating Genes
1	neuromuscular disease	29.6	TCAP NEB MYOT LDB3 DES
2	myopathy, myofibrillar, 3	29.0	TCAP MYPN MYOZ1 MYOT LDB3 FLNC
3	muscular dystrophy	28.9	TCAP NEB MYOT LDB3 FLNC DES
4	myofibrillar myopathy	28.5	TCAP NEB MYPN MYOZ1 MYOT LDB3
5	myopathy	28.1	TCAP NEB MYPN MYOZ1 MYOT LMOD3
6	autosomal dominant distal myopathy	10.3	MYOT DES
7	autosomal recessive limb-girdle muscular dystrophy type 2w	10.3	MYOT DES
8	muscular dystrophy-dystroglycanopathy , type c, 9	10.3	MYOT DES
9	cardiomyopathy, familial restrictive, 2	10.3	MYPN FLNC
10	muscular dystrophy, limb-girdle, autosomal dominant 3	10.3	MYOT DES
11	cardioneuromyopathy with hyaline masses and nemaline rods	10.3	NEB DES
12	foot drop	10.3	NEB MYOT
13	cardiomyopathy, familial restrictive, 3	10.2	MYPN FLNC
14	reducing body myopathy	10.2	NEB DES
15	left ventricular noncompaction 1	10.2	MYPN LDB3
16	autosomal recessive limb-girdle muscular dystrophy type 2q	10.2	TCAP MYOT
17	muscular dystrophy, limb-girdle, autosomal recessive 7	10.2	TCAP MYOT
18	autosomal recessive limb-girdle muscular dystrophy type 2j	10.2	TCAP MYOT
19	autosomal recessive limb-girdle muscular dystrophy type 2h	10.2	TCAP MYOT
20	autosomal recessive limb-girdle muscular dystrophy type 2c	10.2	TCAP MYOT
21	polycystic kidney disease	10.2
22	nemaline myopathy 11, autosomal recessive	10.2	MYPN LMOD3
23	autosomal recessive limb-girdle muscular dystrophy type 2f	10.2	TCAP MYOT
24	scapuloperoneal syndrome, neurogenic, kaeser type	10.2	MYOT LDB3 DES
25	dysphagia	10.2	NEB DES
26	muscular dystrophy, limb-girdle, autosomal dominant 2	10.2	TCAP MYOT
27	central core disease of muscle	10.1	NEB MYOT DES
28	typical congenital nemaline myopathy	10.1	NEB LMOD3
29	nemaline myopathy 10	10.1	MYPN LMOD3
30	nonaka myopathy	10.1	MYOT LDB3 FLNC
31	autosomal recessive limb-girdle muscular dystrophy type 2g	10.1	TCAP MYOT DES
32	hyaline body myopathy	10.1	NEB MYOT FLNC
33	autosomal recessive limb-girdle muscular dystrophy type 2d	10.1	TCAP MYOT
34	muscular disease	10.1	NEB MYOT FLNC
35	emery-dreifuss muscular dystrophy	10.1	MYOT LDB3 DES
36	limb-girdle muscular dystrophy type 1a	10.1	TCAP MYOT FLNC
37	autosomal recessive limb-girdle muscular dystrophy type 2a	10.1	TCAP MYOT FLNC
38	childhood-onset nemaline myopathy	10.1	NEB MYPN
39	muscle tissue disease	10.1	NEB MYOT FLNC
40	nemaline myopathy 3	10.1	NEB LMOD3
41	muscular dystrophy, limb-girdle, autosomal recessive 2	10.0	TCAP MYOT DES
42	colorectal cancer	10.0
43	severe congenital nemaline myopathy	10.0	NEB LMOD3
44	limb-girdle muscular dystrophy	10.0
45	cytoplasmic body myopathy	10.0
46	intrinsic cardiomyopathy	10.0	TCAP LDB3 FLNC
47	muscular dystrophy, limb-girdle, autosomal dominant 1	10.0	MYOT BAG3
48	autosomal recessive limb-girdle muscular dystrophy type 2b	10.0	TCAP MYOT
49	nemaline myopathy 2	10.0	NEB MYPN LMOD3
50	atrial standstill 1	10.0	MYOT FLNC DES

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	elevated serum creatine kinase ³¹	HP:0003236
5	waddling gait ³¹	HP:0002515
6	nasal speech ³¹	HP:0001611
7	abnormality of metabolism/homeostasis ³¹	HP:0001939
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®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

UMLS symptoms related to Myopathy, Spheroid Body:

waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.85	BAG3 DES FLNC LDB3 LMOD3 MYOZ1
2	cardiovascular system	MP:0005385	9.56	BAG3 DES FLNC LDB3 LMOD3 MYPN
3	muscle	MP:0005369	9.28	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

MalaCards organs/tissues related to Myopathy, Spheroid Body:

⁴⁰

Kidney, Spinal Cord, Liver, Prostate

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Publications for Myopathy, Spheroid Body

Articles related to Myopathy, Spheroid Body:

(show all 16)

#	Title	Authors	PMID	Year
1	A mutation in myotilin causes spheroid body myopathy. ⁵⁷ ⁶ ⁵⁴ ⁶¹	Foroud T...Nichols WC	16380616	2005
2	Autosomal dominant "spheroid body myopathy". ⁶¹ ⁶ ⁵⁷	Goebel HH...Merritt AD	571956	1978
3	Spheroid body myopathy revisited. ⁶¹ ⁵⁷	Goebel HH...Muller J	9270668	1997
4	Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. ⁵⁴ ⁶¹	Garvey SM...Hauser MA	16801328	2006
5	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
6	Expression of myotilin during chicken development. ⁶¹	Dube DK...Sanger JW	25125173	2014
7	[Myofibrillar myopaathy]. ⁶¹	Hayashi Y	24291893	2013
8	Protein aggregation in congenital myopathies. ⁶¹	Goebel HH...Blaschek A	22172423	2011
9	Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? ⁶¹	Gamez J...Olive M	19027924	2009
10	Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. ⁶¹	Moza M...Carpen O	17074808	2007
11	[Spheroid body myopathy: case report]. ⁶¹	Scola RH...Werneck LC	16100986	2005
12	[Cytoplasmic body myopathy (spheroid body myopathy)]. ⁶¹	Hara H...Wakayama Y	11555982	2001
13	Familial desmin myopathies and cytoplasmic body myopathies. ⁵⁴	Baeta AM...Pellissier JF	8922062	1996
14	Desmin pathology in neuromuscular diseases. ⁶¹	Goebel HH...Bornemann A	8242173	1993
15	Congenital myopathies with "diagnostic" pathological features. ⁶¹	Korenyi-Both A...Korenyi-Both I	3323392	1987
16	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	PubMed IDs
1	MYOT	Myotilin	Protein Coding	1670.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	571956 16380616 16801328
2	DES	Desmin	Protein Coding	9.1	Novoseek inferred ⁵⁴	8627346 8922062
3	MYPN	Myopalladin	Protein Coding	7.24	DISEASES inferred ¹⁵
4	FLNC	Filamin C	Protein Coding	6.94	DISEASES inferred ¹⁵
5	MYOZ1	Myozenin 1	Protein Coding	6.81	DISEASES inferred ¹⁵
6	PALLD	Palladin, Cytoskeletal Associated Protein	Protein Coding	6.7	DISEASES inferred ¹⁵
7	LDB3	LIM Domain Binding 3	Protein Coding	6.63	DISEASES inferred ¹⁵
8	NEB	Nebulin	Protein Coding	5.89	DISEASES inferred ¹⁵
9	TCAP	Titin-Cap	Protein Coding	5.88	DISEASES inferred ¹⁵
10	LMOD3	Leiomodin 3	Protein Coding	5.86	DISEASES inferred ¹⁵
11	SORBS2	Sorbin And SH3 Domain Containing 2	Protein Coding	5.84	DISEASES inferred ¹⁵
12	BAG3	BAG Cochaperone 3	Protein Coding	5.83	DISEASES inferred ¹⁵
13	NEBL	Nebulette	Protein Coding	5.65	DISEASES inferred ¹⁵
14	MYOM1	Myomesin 1	Protein Coding	5.61	DISEASES inferred ¹⁵

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Variations for Myopathy, Spheroid Body

ClinVar genetic disease variations for Myopathy, Spheroid Body:

⁶ (show all 44)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.116C>T (p.Ser39Phe)	SNV	Pathogenic	5839	rs121908461	GRCh37: 5:137206456-137206456 GRCh38: 5:137870767-137870767
2	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.323A>C (p.Asn108Thr)	SNV	Uncertain significance	281070	rs142416150	GRCh37: 5:137206663-137206663 GRCh38: 5:137870974-137870974
3	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.343G>T (p.Ala115Ser)	SNV	Uncertain significance	351023	rs114194130	GRCh37: 5:137206683-137206683 GRCh38: 5:137870994-137870994
4	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.*418T>C	SNV	Uncertain significance	351033	rs778508971	GRCh37: 5:137223492-137223492 GRCh38: 5:137887803-137887803
5	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)	SNV	Uncertain significance	288959	rs144731446	GRCh37: 5:137222648-137222648 GRCh38: 5:137886959-137886959
6	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.533G>A (p.Arg178His)	SNV	Uncertain significance	351025	rs150293853	GRCh37: 5:137213210-137213210 GRCh38: 5:137877521-137877521
7	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1222T>C (p.Leu408=)	SNV	Uncertain significance	351028	rs886059968	GRCh37: 5:137222584-137222584 GRCh38: 5:137886895-137886895
8	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.-89del	Deletion	Uncertain significance	351021	rs886059966	GRCh37: 5:137206251-137206251 GRCh38: 5:137870562-137870562
9	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.335T>A (p.Ile112Asn)	SNV	Uncertain significance	351022	rs752723849	GRCh37: 5:137206675-137206675 GRCh38: 5:137870986-137870986
10	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.*167A>G	SNV	Uncertain significance	351031	rs886059969	GRCh37: 5:137223241-137223241 GRCh38: 5:137887552-137887552
11	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)	SNV	Uncertain significance	351029	rs145427063	GRCh37: 5:137222978-137222978 GRCh38: 5:137887289-137887289
12	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.-165C>T	SNV	Uncertain significance	351020	rs866748883	GRCh37: 5:137206176-137206176 GRCh38: 5:137870487-137870487
13	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.120T>A (p.Ile40=)	SNV	Uncertain significance	95438	rs139254363	GRCh37: 5:137206460-137206460 GRCh38: 5:137870771-137870771
14	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.356+13T>G	SNV	Uncertain significance	903902		GRCh37: 5:137206709-137206709 GRCh38: 5:137871020-137871020
15	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)	SNV	Uncertain significance	906249		GRCh37: 5:137206483-137206483 GRCh38: 5:137870794-137870794
16	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.191T>A (p.Met64Lys)	SNV	Uncertain significance	906250		GRCh37: 5:137206531-137206531 GRCh38: 5:137870842-137870842
17	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.629C>T (p.Ser210Leu)	SNV	Uncertain significance	598376	rs756669574	GRCh37: 5:137213306-137213306 GRCh38: 5:137877617-137877617
18	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.1458G>A (p.Leu486=)	SNV	Uncertain significance	906366		GRCh37: 5:137223035-137223035 GRCh38: 5:137887346-137887346
19	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.*50T>G	SNV	Uncertain significance	906367		GRCh37: 5:137223124-137223124 GRCh38: 5:137887435-137887435
20	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.*188A>C	SNV	Uncertain significance	906368		GRCh37: 5:137223262-137223262 GRCh38: 5:137887573-137887573
21	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.*311A>T	SNV	Uncertain significance	907372		GRCh37: 5:137223385-137223385 GRCh38: 5:137887696-137887696
22	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.*372G>A	SNV	Uncertain significance	907373		GRCh37: 5:137223446-137223446 GRCh38: 5:137887757-137887757
23	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.998C>T (p.Thr333Ile)	SNV	Uncertain significance	521779	rs758194318	GRCh37: 5:137219254-137219254 GRCh38: 5:137883565-137883565
24	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg)	SNV	Uncertain significance	1030156		GRCh37: 5:137222974-137222974 GRCh38: 5:137887285-137887285
25	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.817-11T>C	SNV	Uncertain significance	351026	rs377759571	GRCh37: 5:137219062-137219062 GRCh38: 5:137883373-137883373
26	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)	SNV	Uncertain significance	288959	rs144731446	GRCh37: 5:137222648-137222648 GRCh38: 5:137886959-137886959
27	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)	SNV	Uncertain significance	351029	rs145427063	GRCh37: 5:137222978-137222978 GRCh38: 5:137887289-137887289
28	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.-286C>G	SNV	Uncertain significance	903840		GRCh37: 5:137203568-137203568 GRCh38: 5:137867879-137867879
29	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.348G>A (p.Met116Ile)	SNV	Uncertain significance	903901		GRCh37: 5:137206688-137206688 GRCh38: 5:137870999-137870999
30	PKD2L2-DT , MYOT	NM_006790.3(MYOT):c.*404G>A	SNV	Likely benign	904036		GRCh37: 5:137223478-137223478 GRCh38: 5:137887789-137887789
31	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.617G>A (p.Gly206Asp)	SNV	Likely benign	95441	rs151094883	GRCh37: 5:137213294-137213294 GRCh38: 5:137877605-137877605
32	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.343G>A (p.Ala115Thr)	SNV	Likely benign	95439	rs114194130	GRCh37: 5:137206683-137206683 GRCh38: 5:137870994-137870994
33	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.445G>C (p.Glu149Gln)	SNV	Likely benign	95440	rs71578935	GRCh37: 5:137211606-137211606 GRCh38: 5:137875917-137875917
34	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu)	SNV	Likely benign	167318	rs78633961	GRCh37: 5:137222565-137222565 GRCh38: 5:137886876-137886876
35	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.981T>C (p.Asn327=)	SNV	Likely benign	198547	rs148479015	GRCh37: 5:137219237-137219237 GRCh38: 5:137883548-137883548
36	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.*463C>T	SNV	Likely benign	351034	rs149535236	GRCh37: 5:137223537-137223537 GRCh38: 5:137887848-137887848
37	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.-233C>A	SNV	Likely benign	351019	rs186433387	GRCh37: 5:137203621-137203621 GRCh38: 5:137867932-137867932
38	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1008G>T (p.Val336=)	SNV	Likely benign	198548	rs142828368	GRCh37: 5:137219264-137219264 GRCh38: 5:137883575-137883575
39	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.780G>A (p.Ser260=)	SNV	Benign	129684	rs116773838	GRCh37: 5:137217758-137217758 GRCh38: 5:137882069-137882069
40	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.*98G>A	SNV	Benign	351030	rs4288	GRCh37: 5:137223172-137223172 GRCh38: 5:137887483-137887483
41	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.1190+12A>G	SNV	Benign	351027	rs183456886	GRCh37: 5:137221914-137221914 GRCh38: 5:137886225-137886225
42	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.*190C>G	SNV	Benign	351032	rs74711051	GRCh37: 5:137223264-137223264 GRCh38: 5:137887575-137887575
43	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.-251A>G	SNV	Benign	351018	rs6863775	GRCh37: 5:137203603-137203603 GRCh38: 5:137867914-137867914
44	PKD2L2-DT , MYOT	NM_006790.2(MYOT):c.149A>G (p.Gln50Arg)	SNV	Benign	129683	rs34717730	GRCh37: 5:137206489-137206489 GRCh38: 5:137870800-137870800

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

⁷²

#	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 ¹ ⁶⁵	10.78	TCAP NEB MYOM1 DES

Sources

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	10.18	TCAP SORBS2 PALLD NEBL NEB MYPN
2	cytoskeleton	GO:0005856	9.95	PALLD NEB MYOT LMOD3 LDB3 FLNC
3	actin cytoskeleton	GO:0015629	9.65	SORBS2 PALLD NEB MYOZ1 MYOT
4	sarcolemma	GO:0042383	9.61	MYOT FLNC DES
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	MYOM1 LMOD3
8	pseudopodium	GO:0031143	9.48	MYOZ1 LDB3
9	contractile fiber	GO:0043292	9.46	NEB DES
10	stress fiber	GO:0001725	9.46	PALLD NEBL LDB3 BAG3
11	Z disc	GO:0030018	9.4	TCAP SORBS2 PALLD NEBL NEB MYPN
12	sarcomere	GO:0030017	9.26	TCAP NEB MYPN MYOM1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:0007411	9.65	PALLD MYPN MYOT
2	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.63	PALLD MYPN MYOT
3	muscle contraction	GO:0006936	9.46	MYOT MYOM1 LMOD3 DES
4	dendrite self-avoidance	GO:0070593	9.43	PALLD MYPN
5	muscle filament sliding	GO:0030049	9.43	TCAP NEB DES
6	myofibril assembly	GO:0030239	9.4	MYOZ1 LMOD3
7	skeletal muscle thin filament assembly	GO:0030240	9.37	TCAP LMOD3
8	cardiac muscle thin filament assembly	GO:0071691	9.32	NEBL NEB
9	muscle fiber development	GO:0048747	9.13	NEBL NEB FLNC
10	sarcomere organization	GO:0045214	8.92	TCAP MYPN MYOZ1 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	10.28	TCAP SORBS2 PALLD NEBL NEB MYPN
2	actin filament binding	GO:0051015	9.63	NEBL NEB MYOM1
3	actin binding	GO:0003779	9.56	PALLD NEBL NEB MYPN MYOZ1 MYOT
4	cytoskeletal protein binding	GO:0008092	9.55	NEBL MYPN LDB3 FLNC DES
5	muscle alpha-actinin binding	GO:0051371	9.43	PALLD MYPN LDB3
6	cell-cell adhesion mediator activity	GO:0098632	9.4	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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

MalaCards organs/tissues related to 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