Myopathy, Myofibrillar, 2 (MFM2) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Myopathy, Myofibrillar, 2

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Aliases & Descriptions for Myopathy, Myofibrillar, 2:

Name: Myopathy, Myofibrillar, 2 52 70
Alpha-B Crystallinopathy 11 24 70 27 68
Myofibrillar Myopathy 2 11 13
Myofibrillar Myopathy with or Without Cataract and/or Cardiomyopathy 70
Myopathy Desmin-Related Associated with Mutation in the Cryab Gene 70
Alpha-B Crystallin-Related Myopathy, Myofibrillar Myopathy 2 24
Alpha-B Crystallin-Related Late-Onset Distal Myopathy 54
Myopathy Cardioskeletal Desmin-Related with Cataract 70
Myopathy, Myofibrillar, Alpha-B Crystallin-Related 12
Myofibrillar Myopathy Alpha-B Crystallin-Related 70
Alpha-B Crystallinopathy with Cataract 70
Desmin-Related Myopathy with Cataract 70
Late-Onset Distal Crystallinopathy 54
Mfm Alpha-B Crystallin-Related 70
Mfm2 70



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


External Ids:

OMIM52 608810
Disease Ontology11 DOID:0080093
Orphanet54 ORPHA399058
ICD10 via Orphanet31 G71.0
MedGen37 C1837317
MeSH39 D020914

Summaries for Myopathy, Myofibrillar, 2

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OMIM:52 Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult... (608810) more...

MalaCards based summary: Myopathy, Myofibrillar, 2, also known as alpha-b crystallinopathy, is related to myopathy, myofibrillar, 1 and myopathy, early-onset, with fatal cardiomyopathy, and has symptoms including neck muscle weakness, cataract and hypertrophic cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 2 is CRYAB (Crystallin Alpha B), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and RhoGDI Pathway. Related mouse phenotype muscle.

UniProtKB/Swiss-Prot:70 Myopathy, myofibrillar, 2: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc 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.

Related Diseases for Myopathy, Myofibrillar, 2

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Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 6 myopathy, myofibrillar, 2
Myofibrillar Myopathy 7 Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy Myopathy, Myofibrillar, 8

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 111.2
2myopathy, early-onset, with fatal cardiomyopathy10.2LDB3, MYOT
3polyposis syndrome, hereditary mixed, 210.2LDB3, MYOT
4autoimmune thyroid disease 210.2LDB3, MYOT
5myopathy, congenital, with fiber-type disproportion10.2ACTA1, MYH7
6autosomal recessive nonsyndromic deafness 4710.1DMD, LDB3
7myopathy, spheroid body10.1FLNC, MYOT
8cardiomyopathy, dilated, 1aa, with or without lvnc10.1DMD, LDB3
9autosomal recessive limb-girdle muscular dystrophy type 2f10.1FLNC, MYOT
10cardiomyopathy, familial restrictive, 310.1DMD, LDB3
11lipodystrophy, familial partial, 210.1DMD, LDB3
12dowling-degos disease10.0ACTA1, MYH7
13segawa syndrome, recessive10.0ACTA1, FLNC
14myopathy, distal, with anterior tibial onset10.0DMD, MYOT
15lyme disease10.0DMD, MYH7, MYOT
16epilepsy, generalized, with febrile seizures plus, type 110.0MYH7, MYOT
17allergic bronchopulmonary aspergillosis, familial10.0APP, GSN, LDB3
18cardiomyopathy, dilated, 1i10.0CRYAB, FLNC, LDB3, MYOT
19muscular dystrophy, rigid spine, 110.0ACTA1, DMD, MYH7
20microcephaly and chorioretinopathy 110.0ACTA1, DMD, MYH7
21microcephaly and chorioretinopathy 210.0ACTA1, DMD, MYH7
22inflammatory bowel disease 1410.0DMD, FLNC, MYOT
23primary cutaneous gamma/delta-positive t-cell lymphoma9.9CRYAB, DMD, LDB3, MYH7
24emery-dreifuss muscular dystrophy, dominant type9.8CRYAB, DMD, LDB3, MYH7
25celiac disease 29.8CRYAB, FLNC, LDB3, MYH7, MYOT
26nonsyndromic hearing loss and deafness, mitochondrial9.7CRYAB, DMD, FLNC, LDB3, MYOT
27cdkl5-related angelman-like syndrome9.7CRYAB, DMD, FLNC, LDB3, MYH7
28spindle cell sarcoma9.7ACTA1, CRYAB, FLNC, LDB3, MYH7, MYOT
29myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related8.6ACTA1, APP, CRYAB, DMD, FLNC, GSN

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

Diseases related to myopathy, myofibrillar, 2

Symptoms & Phenotypes for Myopathy, Myofibrillar, 2

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Myopathy, Myofibrillar, 2:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 neck muscle weakness64 HP:0000467
2 cataract64 HP:0000518
3 hypertrophic cardiomyopathy64 HP:0001639
4 distal muscle weakness64 HP:0002460
5 respiratory insufficiency due to muscle weakness64 HP:0002747
6 elevated serum creatine phosphokinase64 HP:0003236
7 limb-girdle muscle weakness64 HP:0003325
8 emg64 HP:0003458
9 muscle fiber splitting64 HP:0003555
10 muscular dystrophy64 HP:0003560
11 late-onset proximal muscle weakness64 HP:0003694
12 autophagic vacuoles64 HP:0003736
13 foot dorsiflexor weakness64 HP:0009027
14 decreased achilles reflex64 HP:0009072

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 2 according to GeneCards Suite gene sharing:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6ACTA1, APP, CRYAB, DMD, FLNC, LDB3

Drugs & Therapeutics for Myopathy, Myofibrillar, 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mechanisms of Age-Related Muscle LossCompletedNCT03113279
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Myopathy, Myofibrillar, 2

Genetic Tests for Myopathy, Myofibrillar, 2

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Genetic tests related to Myopathy, Myofibrillar, 2:

id Genetic test Affiliating Genes
1 Alpha-B Crystallinopathy27 24 CRYAB

Anatomical Context for Myopathy, Myofibrillar, 2

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Publications for Myopathy, Myofibrillar, 2

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Variations for Myopathy, Myofibrillar, 2

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Myopathy, Myofibrillar, 2:

id Gene Variation Type Significance SNP ID Assembly Location
1CRYABNM_ 001885.2(CRYAB): c.358A> G (p.Arg120Gly)SNVPathogenicrs104894201GRCh37Chr 11, 111779658: 111779658
2CRYABCRYAB, 2-BP DEL, 464CTdeletionPathogenic
3CRYABNM_ 001885.2(CRYAB): c.451C> T (p.Gln151Ter)SNVPathogenicrs104894202GRCh37Chr 11, 111779565: 111779565
4CRYABNM_ 001885.2(CRYAB): c.60delC (p.Ser21Alafs)deletionPathogenicrs281865141GRCh37Chr 11, 111782389: 111782389
5CRYABNM_ 001885.2(CRYAB): c.343delT (p.Ser115Profs)deletionPathogenicrs281865142GRCh37Chr 11, 111779673: 111779673
6CRYABNM_ 001885.2(CRYAB): c.325G> C (p.Asp109His)SNVPathogenicrs387907339GRCh37Chr 11, 111779691: 111779691

Expression for genes affiliated with Myopathy, Myofibrillar, 2

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

Pathways for genes affiliated with Myopathy, Myofibrillar, 2

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GO Terms for genes affiliated with Myopathy, Myofibrillar, 2

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

idNameGO IDScoreTop Affiliating Genes
1sarcomereGO:003001710.3ACTA1, MYH7
2costamereGO:004303410.2DMD, FLNC
3sarcoplasmGO:001652810.2FLNC, GSN
4myofibrilGO:003001610.1DMD, MYH7
5sarcolemmaGO:00423839.7DMD, FLNC, MYOT
6stress fiberGO:00017259.5ACTA1, MYH7, SYNPO2
7actin cytoskeletonGO:00156299.4ACTA1, GSN, MYOT, SYNPO2
8cytoskeletonGO:00058568.6ACTA1, DMD, FLNC, GSN, LDB3, MYOT
9Z discGO:00300187.3CRYAB, DMD, FLNC, LDB3, MYH7, MYOT
10cytoplasmGO:00057376.2ACTA1, APP, CRYAB, DMD, FLNC, GSN

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1amyloid fibril formationGO:199000010.1APP, GSN
2cardiac muscle contractionGO:006004810.1DMD, MYH7
3muscle fiber developmentGO:00487479.9DMD, FLNC
4agingGO:00075689.8CRYAB, DMD, GSN
5muscle contractionGO:00069369.7ACTA1, CRYAB, MYH7, MYOT
6muscle filament slidingGO:00300499.5ACTA1, DMD, MYH7
7regulation of heart rateGO:00020279.5DMD, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.9ACTA1, DMD
2cytoskeletal protein bindingGO:00080929.9CRYAB, FLNC, LDB3
3alpha-actinin bindingGO:00513939.9MYOT, SYNPO2
4muscle alpha-actinin bindingGO:00513719.8LDB3, SYNPO2
5structural constituent of muscleGO:00083079.6DMD, MYOT
6actin bindingGO:00037798.5DMD, GSN, MYH7, MYOT, SYNPO2

Sources for Myopathy, Myofibrillar, 2

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet