Myopathy, Myofibrillar, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MFM2 MCID: MYP082 MIFTS: 41	Myopathy, Myofibrillar, 2 (MFM2) Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Myopathy, Myofibrillar, 2

MalaCards integrated aliases for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 ⁵⁶ ⁷³

Alpha-B Crystallinopathy ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ⁷¹

Myopathy, Myofibrillar, Alpha-B Crystallin-Related ⁵⁶ ¹³

Myofibrillar Myopathy 2 ¹² ¹⁵

Mfm2 ⁵⁶ ⁷³

Myopathy, Myofibrillar, with or Without Cataract and/or Cardiomyopathy ⁵⁶

Myopathy, Desmin-Related, Associated with Mutation in the Cryab Gene ⁵⁶

Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy ⁷³

Myopathy Desmin-Related Associated with Mutation in the Cryab Gene ⁷³

Alpha-B Crystallin-Related Late-Onset Distal Myopathy ⁵⁸

Myopathy Cardioskeletal Desmin-Related with Cataract ⁷³

Myofibrillar Myopathy Alpha-B Crystallin-Related ⁷³

Alpha-B Crystallin-Related Late-Onset Myopathy ⁵⁸

Alpha-B Crystallinopathy with Cataract ⁷³

Desmin-Related Myopathy with Cataract ⁷³

Late-Onset Distal Crystallinopathy ⁵⁸

Mfm Alpha-B Crystallin-Related ⁷³

Myopathy, Myofibrillar, Type 2 ³⁹

Characteristics:

OMIM:

⁵⁶

Miscellaneous:
adult onset
slowly progressive
clinical variability
two patients without cardiomyopathy or cataracts have been reported

Inheritance:
autosomal dominant

HPO:

³¹

myopathy, myofibrillar, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0080093

OMIM ⁵⁶ 608810

OMIM Phenotypic Series ⁵⁶ PS601419

MeSH ⁴³ D020914

ICD10 via Orphanet ³³ G71.0

Orphanet ⁵⁸ ORPHA399058

MedGen ⁴¹ C1837317

UMLS ⁷¹ C1837317

Sources

Summaries for Myopathy, Myofibrillar, 2

OMIM : ⁵⁶ Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (608810)

MalaCards based summary : Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to early-onset lamellar cataract and cataract 16, multiple types. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B). Related phenotypes are dysphagia and dysphonia

Disease Ontology : ¹² A myofibrillar myopathy that has material basis in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.

UniProtKB/Swiss-Prot : ⁷³ Myopathy, myofibrillar, 2: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.

Sources

Related Diseases for Myopathy, Myofibrillar, 2

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1	Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3	Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5	Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7	Myopathy, Myofibrillar, 8

Diseases related to Myopathy, Myofibrillar, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)

#	Related Disease	Score	Top Affiliating Genes
1	early-onset lamellar cataract	10.4	CRYAB CRYAA
2	cataract 16, multiple types	10.4	CRYAB CRYAA
3	muscular dystrophy, limb-girdle, type 1h	10.3	MYOT DNAJB6
4	early-onset nuclear cataract	10.3	CRYAB CRYAA
5	muscular dystrophy-dystroglycanopathy , type c, 9	10.3	MYOT DNAJB6
6	fatal infantile hypertonic myofibrillar myopathy	10.3	SYNPO2 CRYAB
7	muscular dystrophy, limb-girdle, autosomal dominant 3	10.2	MYOT DNAJB6
8	neuronopathy, distal hereditary motor, type iic	10.2	HSPB8 CRYAB
9	posterior polar cataract	10.2	CRYAB CRYAA
10	giant axonal neuropathy 2	10.2	HSPB8 BAG3
11	muscular dystrophy, limb-girdle, autosomal dominant 2	10.2	MYOT DNAJB6
12	neuronopathy, distal hereditary motor, type iia	10.2	HSPB8 CRYAA
13	myopathy, myofibrillar, 6	10.2	HSPB8 BAG3
14	charcot-marie-tooth disease, axonal, type 2l	10.1	HSPB8 CRYAA
15	scapuloperoneal syndrome, neurogenic, kaeser type	10.1	SELENON MYOT
16	central core disease of muscle	10.0	SELENON MYOT
17	alexander disease	10.0	PLEC CRYAB CRYAA
18	myopathy, centronuclear, 1	10.0	MYOT FLNC DNAJB6
19	hyaline body myopathy	10.0	SELENON MYOT
20	autosomal dominant distal myopathy	10.0	MYOT DMD
21	epithelial basement membrane dystrophy	9.9	SYNC PLEC
22	muscular dystrophy, limb-girdle, autosomal recessive 7	9.9	MYOT DMD
23	distal hereditary motor neuronopathy type 2	9.9	HSPB8 CRYAA
24	autosomal recessive limb-girdle muscular dystrophy type 2c	9.9	MYOT DMD
25	autosomal recessive limb-girdle muscular dystrophy type 2f	9.9	MYOT DMD
26	reducing body myopathy 1a	9.9	MYOT LDB3 FLNC BAG3
27	myopathy, spheroid body	9.9	MYOT LDB3 FLNC BAG3
28	epidermolysis bullosa simplex with muscular dystrophy	9.9	SYNC PLEC
29	congenital structural myopathy	9.9	SELENON MYOT
30	autosomal recessive limb-girdle muscular dystrophy type 2a	9.8	MYOT DMD
31	autosomal dominant limb-girdle muscular dystrophy	9.8	MYOT FLNC DNAJB6 BAG3
32	autosomal recessive limb-girdle muscular dystrophy type 2b	9.8	MYOT DMD
33	muscular disease	9.8	MYOT DMD CRYAA
34	autosomal recessive limb-girdle muscular dystrophy type 2d	9.8	MYOT DMD
35	atrial standstill 1	9.8	MYOT DMD CRYAB
36	myopathy, myofibrillar, 4	9.7	MYOT LDB3 FLNC CRYAB BAG3
37	autosomal recessive limb-girdle muscular dystrophy	9.6	PLEC MYOT DMD
38	muscular dystrophy, becker type	9.6	SYNC MYOT DMD
39	autosomal recessive limb-girdle muscular dystrophy type 2q	9.6	SYNC PLEC MYOT DNAJB6
40	muscular dystrophy, limb-girdle, autosomal dominant 1	9.5	MYOT HSPB8 DNAJB6 CRYAA BAG3
41	familial isolated dilated cardiomyopathy	9.5	LDB3 DMD CRYAB BAG3
42	tibial muscular dystrophy	9.5	MYOT LDB3 FLNC DMD
43	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.5	SELENON MYOT DMD
44	isolated elevated serum creatine phosphokinase levels	9.5	SELENON MYOT DMD
45	restrictive cardiomyopathy	9.5	FLNC DMD CRYAB BAG3
46	congenital fiber-type disproportion	9.5	SELENON MYOT DMD
47	ullrich congenital muscular dystrophy 1	9.5	SELENON DMD CRYAA
48	muscular dystrophy, congenital merosin-deficient, 1a	9.5	SELENON DMD
49	myopathy, myofibrillar, 9, with early respiratory failure	9.4	MYOT LDB3 FLNC DNAJB6 CRYAB BAG3
50	bethlem myopathy 1	9.3	SELENON MYOT DMD CRYAA

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 2:

Sources

Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

Human phenotypes related to Myopathy, Myofibrillar, 2:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysphagia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002015
2	dysphonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001618
3	progressive distal muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009063
4	emg: myopathic abnormalities ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003458
5	hyporeflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001265
6	increased variability in muscle fiber diameter ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003557
7	foot dorsiflexor weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009027
8	axial muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003327
9	neck muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000467
10	autophagic vacuoles ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003736
11	muscle fiber inclusion bodies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100299
12	limb-girdle muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003325
13	accumulation of muscle fiber desmin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030225
14	posterior capsular cataract ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100020
15	abnormal circulating creatine kinase concentration ³¹	frequent (33%)		HP:0040081
16	respiratory insufficiency due to muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002747
17	muscle stiffness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003552
18	progressive proximal muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009073
19	cardiomyopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001638
20	difficulty walking ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002355
21	facial diplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001349
22	cataract ³¹			HP:0000518
23	hypertrophic cardiomyopathy ³¹			HP:0001639
24	elevated serum creatine kinase ³¹			HP:0003236
25	abnormal levels of creatine kinase in blood ⁵⁸		Frequent (79-30%)
26	muscular dystrophy ³¹			HP:0003560
27	distal muscle weakness ³¹			HP:0002460
28	late-onset proximal muscle weakness ³¹			HP:0003694
29	muscle fiber splitting ³¹			HP:0003555
30	decreased achilles reflex ³¹			HP:0009072

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Eyes:
cataracts

Cardiovascular Heart:
cardiomyopathy, hypertrophic

Muscle Soft Tissue:
neck muscle weakness
autophagic vacuoles
limb-girdle muscle weakness
foot drop
myopathic changes seen on emg
more

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

608810

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.81	BAG3 CRYAB DMD FLNC HSPB8 LDB3
2	muscle	MP:0005369	9.61	BAG3 CRYAB DMD FLNC HSPB8 LDB3
3	respiratory system	MP:0005388	9.1	BAG3 DMD FLNC HSPB8 LDB3 SELENON

Sources

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 2

Sources

Genetic Tests for Myopathy, Myofibrillar, 2

Genetic tests related to Myopathy, Myofibrillar, 2:

#	Genetic test	Affiliating Genes
1	Alpha-B Crystallinopathy ²⁹	CRYAB

Sources

Anatomical Context for Myopathy, Myofibrillar, 2

Sources

Publications for Myopathy, Myofibrillar, 2

Articles related to Myopathy, Myofibrillar, 2:

(show all 16)

#	Title	Authors	PMID	Year
1	A novel CRYAB mutation resulting in multisystemic disease. ⁵⁶ ⁶	Sacconi S...Urtizberea A	21920752	2012
2	Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. ⁵⁶ ⁶	Selcen D...Engel AG	14681890	2003
3	A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. ⁵⁶ ⁶	Vicart P...Fardeau M	9731540	1998
4	[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)]. ⁵⁶ ⁶	Fardeau M...Vernant P	570292	1978
5	Pharmacological chaperone for α-crystallin partially restores transparency in cataract models. ⁶	Makley LN...Gestwicki JE	26542570	2015
6	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
7	BAG3-related myofibrillar myopathy in a Chinese family. ⁶	Lee HC...Mak CM	21361913	2012
8	Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. ⁶	Del Bigio MR...Selcen D	21337604	2011
9	Alpha B-crystallin mutation in dilated cardiomyopathy. ⁶	Inagaki N...Kimura A	16483541	2006
10	Myofibrillar Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	Selcen D...Engel AG	20301672	2005
11	Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant. ⁶	Chavez Zobel AT...Landry J	12812987	2003
12	Alteration of protein-protein interactions of congenital cataract crystallin mutants. ⁶	Fu L...Liang JJ	12601044	2003
13	Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. ⁵⁶	Vicart P...Paulin D	8792816	1996
14	Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives. ⁶	Lacson AG...Kuhn S	8000975	1994
15	Mapping of additional markers in fission yeast, especially fus1 and three mfm genes. ⁶¹	Egel R	8001176	1994
16	Analysis of the structural genes encoding M-factor in the fission yeast Schizosaccharomyces pombe: identification of a third gene, mfm3. ⁶¹	Kjaerulff S...Nielsen O	8196631	1994

Sources

Genes for Myopathy, Myofibrillar, 2

Genes related to Myopathy, Myofibrillar, 2 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRYAB	Crystallin Alpha B	Protein Coding	1673.4	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	8000975 9731540 20301672 (more) 16483541 26542570 570292 21920752 12812987 14681890 12601044 21337604
2	MYOT	Myotilin	Protein Coding	8	DISEASES inferred ¹⁵
3	CRYAA	Crystallin Alpha A	Protein Coding	7.49	DISEASES inferred ¹⁵ ¹⁵
4	LDB3	LIM Domain Binding 3	Protein Coding	7.29	DISEASES inferred ¹⁵
5	BAG3	BAG Cochaperone 3	Protein Coding	7.04	DISEASES inferred ¹⁵
6	FLNC	Filamin C	Protein Coding	6.85	DISEASES inferred ¹⁵
7	DNAJB6	DnaJ Heat Shock Protein Family (Hsp40) Member B6	Protein Coding	6.39	DISEASES inferred ¹⁵
8	SYNPO2	Synaptopodin 2	Protein Coding	6.12	DISEASES inferred ¹⁵
9	HSPB8	Heat Shock Protein Family B (Small) Member 8	Protein Coding	6.08	DISEASES inferred ¹⁵
10	PLEC	Plectin	Protein Coding	5.95	DISEASES inferred ¹⁵
11	SELENON	Selenoprotein N	Protein Coding	5.82	DISEASES inferred ¹⁵
12	DMD	Dystrophin	Protein Coding	5.77	DISEASES inferred ¹⁵
13	SYNC	Syncoilin, Intermediate Filament Protein	Protein Coding	5.77	DISEASES inferred ¹⁵

Sources

Variations for Myopathy, Myofibrillar, 2

ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:

⁶ (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRYAB	NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)	SNV	Pathogenic	16953	rs104894201	11:111779658-111779658	11:111908934-111908934
2	CRYAB	NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)	deletion	Pathogenic	16955	rs1566402514	11:111779551-111779552	11:111908827-111908828
3	CRYAB	NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter)	SNV	Pathogenic	16956	rs104894202	11:111779565-111779565	11:111908841-111908841
4	CRYAB	NM_001289808.2(CRYAB):c.60del (p.Ser21fs)	deletion	Pathogenic	29669	rs281865141	11:111782389-111782389	11:111911665-111911665
5	CRYAB	NM_001289808.2(CRYAB):c.325G>C (p.Asp109His)	SNV	Pathogenic	41930	rs387907339	11:111779691-111779691	11:111908967-111908967
6	CRYAB	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	deletion	Pathogenic/Likely pathogenic	38963	rs281865142	11:111779673-111779673	11:111908949-111908949
7	CRYAB	NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)	SNV	Conflicting interpretations of pathogenicity	44232	rs2234704	11:111782297-111782297	11:111911573-111911573
8	CRYAB	NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)	SNV	Conflicting interpretations of pathogenicity	178013	rs149787233	11:111782333-111782333	11:111911609-111911609
9	CRYAB	NM_001289808.2(CRYAB):c.*38G>C	SNV	Conflicting interpretations of pathogenicity	302430	rs781853968	11:111779450-111779450	11:111908726-111908726
10	CRYAB	NM_001289808.2(CRYAB):c.*39T>C	SNV	Uncertain significance	302429	rs782808506	11:111779449-111779449	11:111908725-111908725
11	CRYAB	NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)	SNV	Uncertain significance	571646	rs145768025	11:111782334-111782334	11:111911610-111911610
12	CRYAB	NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)	SNV	Uncertain significance	810752		11:111779534-111779534	11:111908810-111908810
13	CRYAB	NM_001289808.2(CRYAB):c.*60G>A	SNV	Uncertain significance	877466		11:111779428-111779428	11:111908704-111908704
14	CRYAB	NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn)	SNV	Uncertain significance	879070		11:111782273-111782273	11:111911549-111911549
15	CRYAB	NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)	SNV	Benign	44239	rs4252582	11:111782389-111782389	11:111911665-111911665

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CRYAB	p.Arg120Gly	VAR_007899	rs104894201
2	CRYAB	p.Asp109His	VAR_069528	rs387907339

Sources

Expression for Myopathy, Myofibrillar, 2

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 2.

Sources

Pathways for Myopathy, Myofibrillar, 2

Sources

GO Terms for Myopathy, Myofibrillar, 2

Cellular components related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	10.1	SYNPO2 SYNC PLEC HSPB8 FLNC DNAJB6
2	cytoplasm	GO:0005737	10.03	SYNPO2 SYNC PLEC MYOT LDB3 HSPB8
3	cytoskeleton	GO:0005856	9.95	SYNPO2 PLEC MYOT LDB3 FLNC DMD
4	perinuclear region of cytoplasm	GO:0048471	9.83	SYNC PLEC LDB3 DNAJB6 DMD
5	stress fiber	GO:0001725	9.5	SYNPO2 LDB3 BAG3
6	contractile fiber	GO:0043292	9.49	PLEC CRYAB
7	chaperone complex	GO:0101031	9.46	HSPB8 BAG3
8	sarcoplasm	GO:0016528	9.37	PLEC FLNC
9	sarcolemma	GO:0042383	9.35	SYNC PLEC MYOT FLNC DMD
10	costamere	GO:0043034	9.33	PLEC FLNC DMD
11	Z disc	GO:0030018	9.28	SYNPO2 SYNC MYOT LDB3 FLNC DNAJB6

Biological processes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein stabilization	GO:0050821	9.65	CRYAB CRYAA BAG3
2	protein folding	GO:0006457	9.61	DNAJB6 CRYAB BAG3
3	cellular response to unfolded protein	GO:0034620	9.46	HSPB8 BAG3
4	muscle cell cellular homeostasis	GO:0046716	9.4	DMD BAG3
5	muscle fiber development	GO:0048747	9.37	FLNC DMD
6	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.32	SELENON DMD
7	chaperone-mediated autophagy	GO:0061684	9.26	SYNPO2 BAG3
8	positive regulation of aggrephagy	GO:1905337	9.16	HSPB8 BAG3
9	negative regulation of intracellular transport	GO:0032387	8.96	CRYAB CRYAA
10	regulation of cellular response to heat	GO:1900034	8.92	HSPB8 DNAJB6 CRYAB BAG3

Molecular functions related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:0005198	9.63	PLEC CRYAB CRYAA
2	unfolded protein binding	GO:0051082	9.5	DNAJB6 CRYAB CRYAA
3	structural constituent of eye lens	GO:0005212	9.43	CRYAB CRYAA
4	ankyrin binding	GO:0030506	9.4	PLEC FLNC
5	muscle alpha-actinin binding	GO:0051371	9.37	SYNPO2 LDB3
6	structural constituent of muscle	GO:0008307	9.33	PLEC MYOT DMD
7	alpha-actinin binding	GO:0051393	9.26	SYNPO2 MYOT
8	cytoskeletal protein binding	GO:0008092	9.26	PLEC LDB3 FLNC CRYAB
9	actin binding	GO:0003779	9.1	SYNPO2 PLEC MYOT LDB3 FLNC DMD

Sources

Sources for Myopathy, Myofibrillar, 2

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, Myofibrillar, 2 (MFM2)

Aliases & Classifications for Myopathy, Myofibrillar, 2

MalaCards integrated aliases for Myopathy, Myofibrillar, 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Myopathy, Myofibrillar, 2

Related Diseases for Myopathy, Myofibrillar, 2

Diseases in the Myofibrillar Myopathy family:

Diseases related to Myopathy, Myofibrillar, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 2:

Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

Human phenotypes related to Myopathy, Myofibrillar, 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2:

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

Genetic Tests for Myopathy, Myofibrillar, 2

Genetic tests related to Myopathy, Myofibrillar, 2:

Anatomical Context for Myopathy, Myofibrillar, 2

Publications for Myopathy, Myofibrillar, 2

Articles related to Myopathy, Myofibrillar, 2:

Genes for Myopathy, Myofibrillar, 2

Genes related to Myopathy, Myofibrillar, 2 (1 elite genes):

Variations for Myopathy, Myofibrillar, 2

ClinVar genetic disease variations for Myopathy, Myofibrillar, 2:

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 2:

Expression for Myopathy, Myofibrillar, 2

Pathways for Myopathy, Myofibrillar, 2

GO Terms for Myopathy, Myofibrillar, 2

Cellular components related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

Biological processes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

Molecular functions related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

Sources for Myopathy, Myofibrillar, 2