MYPOP
MCID: MYP139
MIFTS: 53

Myopathy, Proximal, and Ophthalmoplegia (MYPOP)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Proximal, and Ophthalmoplegia

MalaCards integrated aliases for Myopathy, Proximal, and Ophthalmoplegia:

Name: Myopathy, Proximal, and Ophthalmoplegia 56 73
Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles 56 73
Inclusion Body Myopathy 3, Autosomal Dominant 73 71
Proximal Myopathy and Ophthalmoplegia 56 73
Contracture 43 17
Mypop 56 73
Ibm3 58 73
Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome 58
Childhood-Onset Autosomal Recessive Myopathy with External Ophthalmoplegia 58
Inclusion Body Myopathy 3, Autosomal Dominant, Formerly; Ibm3, Formerly 56
Inclusion Body Myopathy 3, Autosomal Dominant, Formerly 56
Inclusion Body Myopathy, Autosomal Dominant 71
Hereditary Inclusion Body Myopathy Type 3 58
Inclusion Body Myopathy Type 3 58
Inclusion Body Myopathy 3 73
Ibm3, Formerly 56
Hibm3 58

Characteristics:

Orphanet epidemiological data:

58
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
variable age at onset
nonprogressive or very slowly progressive
contractures at birth or difficulties in the neonatal period resolve
relatively mild phenotype


HPO:

31
myopathy, proximal, and ophthalmoplegia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 56 605637
ICD10 via Orphanet 33 G71.2 G71.8
MedGen 41 C1854106
UMLS 71 C1854106 C2931820

Summaries for Myopathy, Proximal, and Ophthalmoplegia

OMIM : 56 Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014). (605637)

MalaCards based summary : Myopathy, Proximal, and Ophthalmoplegia, also known as myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, is related to inclusion body myositis and bethlem myopathy 1, and has symptoms including generalized muscle weakness and ophthalmoplegia. An important gene associated with Myopathy, Proximal, and Ophthalmoplegia is MYH2 (Myosin Heavy Chain 2), and among its related pathways/superpathways are ECM-receptor interaction and miRNA targets in ECM and membrane receptors. The drugs Prednisolone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and prostate, and related phenotypes are scoliosis and ptosis

UniProtKB/Swiss-Prot : 73 Myopathy, proximal, and ophthalmoplegia: A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.

Related Diseases for Myopathy, Proximal, and Ophthalmoplegia

Diseases related to Myopathy, Proximal, and Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1023)
# Related Disease Score Top Affiliating Genes
1 inclusion body myositis 32.5 MYH2 EMD
2 bethlem myopathy 1 31.8 RYR1 COL6A2 COL6A1
3 collagen vi-related myopathy 31.3 COL6A2 COL6A1
4 distal arthrogryposis 31.3 RYR1 MYH2
5 ullrich congenital muscular dystrophy 1 31.2 MDCMP COL6A2 COL6A1
6 congenital fiber-type disproportion 30.5 RYR1 EMD
7 muscular dystrophy, congenital, lmna-related 29.9 RYR1 MYH2 EMD COL6A2 COL6A1
8 collagen type vi-related disorders 29.5 COL6A2 COL6A1
9 rigid spine muscular dystrophy 1 29.5 RYR1 MDCMP EMD COL6A2 COL6A1
10 myopathy 28.5 RYR1 MYH2 EMD COL6A2 COL6A1
11 muscular dystrophy 28.1 RYR1 MYH2 MDCMP EMD COL6A2 COL6A1
12 muscular disease 27.5 RYR1 MYH2 EMD COL6A2 COL6A1
13 contractural arachnodactyly, congenital 12.7
14 lethal congenital contracture syndrome 1 12.7
15 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 12.7
16 lethal congenital contracture syndrome 2 12.6
17 dupuytren contracture 12.6
18 lethal congenital contracture syndrome 3 12.6
19 lethal congenital contracture syndrome 11 12.6
20 lethal congenital contracture syndrome 4 12.6
21 lethal congenital contracture syndrome 12.5
22 lethal congenital contracture syndrome 8 12.5
23 lethal congenital contracture syndrome 6 12.5
24 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.5
25 alopecia-contractures-dwarfism mental retardation syndrome 12.5
26 lethal congenital contracture syndrome 7 12.4
27 lethal congenital contracture syndrome 5 12.4
28 lethal congenital contracture syndrome 9 12.4
29 lethal congenital contracture syndrome 10 12.4
30 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.4
31 contractures, pterygia, and variable skeletal fusions syndrome 1b 12.4
32 contractures, pterygia, and variable skeletal fusions syndrome 1a 12.4
33 volkmann contracture 12.4
34 congenital contractures 12.3
35 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism 12.2
36 wieacker-wolff syndrome 12.2
37 bone fragility with contractures, arterial rupture, and deafness 12.2
38 restrictive dermopathy, lethal 12.2
39 contractures, congenital, torticollis, and malignant hyperthermia 12.2
40 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 12.2
41 contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 12.2
42 histiocytosis-lymphadenopathy plus syndrome 12.1
43 proteasome-associated autoinflammatory syndrome 1 12.1
44 craniosynostosis contractures cleft 12.0
45 familial dupuytren contracture 12.0
46 obsolete: deafness-white hair-contractures-papillomas syndrome 12.0
47 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 12.0
48 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome 12.0
49 contractures-developmental delay-pierre robin syndrome 12.0
50 x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 12.0

Graphical network of the top 20 diseases related to Myopathy, Proximal, and Ophthalmoplegia:



Diseases related to Myopathy, Proximal, and Ophthalmoplegia

Symptoms & Phenotypes for Myopathy, Proximal, and Ophthalmoplegia

Human phenotypes related to Myopathy, Proximal, and Ophthalmoplegia:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 ptosis 31 occasional (7.5%) HP:0000508
3 waddling gait 31 occasional (7.5%) HP:0002515
4 scapular winging 31 occasional (7.5%) HP:0003691
5 distal muscle weakness 31 occasional (7.5%) HP:0002460
6 high palate 31 HP:0000218
7 myopathy 31 HP:0003198
8 generalized muscle weakness 31 HP:0003324
9 ophthalmoplegia 31 HP:0000602
10 proximal muscle weakness 31 HP:0003701
11 myopathic facies 31 HP:0002058
12 neck muscle weakness 31 HP:0000467
13 congenital contracture 31 HP:0002803
14 muscle fiber inclusion bodies 31 HP:0100299

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
upper and lower limbs affected
distal muscle weakness (in some patients)
muscle biopsy shows predominance of type 1 fibers
more
Head And Neck Neck:
neck muscle weakness

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Eyes:
ptosis (in some patients)
ophthalmoplegia, external

Skeletal:
contractures at birth (in some patients)

Head And Neck Face:
myopathic facies

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
waddling gait (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Clinical features from OMIM:

605637

UMLS symptoms related to Myopathy, Proximal, and Ophthalmoplegia:


generalized muscle weakness, ophthalmoplegia

Drugs & Therapeutics for Myopathy, Proximal, and Ophthalmoplegia

Drugs for Myopathy, Proximal, and Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 198)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
7
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
8
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 retinol Phase 4
10 Retinol palmitate Phase 4
11 incobotulinumtoxinA Phase 4
12 Neuromuscular Agents Phase 4
13 abobotulinumtoxinA Phase 4
14 Botulinum Toxins, Type A Phase 4
15 Antiemetics Phase 4
16 Gastrointestinal Agents Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 Methylprednisolone Acetate Phase 4
19 Neuroprotective Agents Phase 4
20 valacyclovir Phase 4
21 Anti-Inflammatory Agents Phase 4
22 Hormone Antagonists Phase 4
23 glucocorticoids Phase 4
24 Hormones Phase 4
25 Pharmaceutical Solutions Phase 4
26 Anti-Allergic Agents Phase 4
27 Lubricant Eye Drops Phase 4
28 Ophthalmic Solutions Phase 4
29
Dimethyl sulfoxide Approved, Vet_approved Phase 2, Phase 3 67-68-5 679
30
Petrolatum Approved, Investigational Phase 2, Phase 3 8009-03-8
31
Eplerenone Approved Phase 3 107724-20-9 150310 443872
32
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
33
Histamine Approved, Investigational Phase 3 51-45-6 774
34
Ketotifen Approved Phase 3 34580-13-7, 34580-14-8 3827
35
Miglustat Approved Phase 3 72599-27-0 51634
36
Acetaminophen Approved Phase 3 103-90-2 1983
37
Orphenadrine Approved Phase 3 83-98-7 4601
38
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
39
Caffeine Approved Phase 3 58-08-2 2519
40
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
41
1-Deoxynojirimycin Investigational Phase 3 19130-96-2 1374
42 Free Radical Scavengers Phase 2, Phase 3
43 Antioxidants Phase 2, Phase 3
44 Calcium, Dietary Phase 3
45 Emollients Phase 3
46 Sodium Channel Blockers Phase 3
47 Diuretics, Potassium Sparing Phase 3
48 Mineralocorticoids Phase 3
49 Natriuretic Agents Phase 3
50 Mineralocorticoid Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 265)
# Name Status NCT ID Phase Drugs
1 Use of Silicone Gel to Improve Retroauricular Scar in Microtia Patients Unknown status NCT02518035 Phase 4 Silicone Gel
2 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline
3 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
4 Ejaculatory Sparing vs. Non-ejaculatory Sparing GreenLightTM Laser Photoselective Vaporization of the Prostate (PVP): A Randomized Double Blind Sexual and Urodynamic Assessment Unknown status NCT02749604 Phase 4
5 MRI Results in Dupuytren's Contracture Before and After Injection With Xiaflex Completed NCT01450397 Phase 4
6 The Efficacy and Safety of Xiaflex Injections for the Treatment of Thumb Cords in Dupuytren's Contractures Completed NCT01265420 Phase 4
7 Retreatment of Recurrent Contractures in Joints Effectively Treated With AA4500 (Collagenase Clostridium Histolyticum [XIAFLEX®/XIAPEX®]) in an Auxilium-sponsored Phase 3 Study in the United States, Australia, and Europe Completed NCT01498640 Phase 4
8 Treatment of the PIP Joint Flexion Contracture: Combined Static and Dynamic Orthotic Intervention Compared With Traditional Combine Therapy. A Randomized Controlled Trial Completed NCT01914991 Phase 4
9 Conservative Treatment of Plantar Fasciitis With Dorsiflexion Night Splints and Medial Arch Supports: a Prospective Randomized Study Completed NCT00222911 Phase 4
10 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
11 A Multicentre Placebo-Controlled Evaluation of Prednisolone and/or Valaciclovir for the Treatment of Bell's Palsy Completed NCT00510263 Phase 4 Prednisolone + placebo;Valaciclovir + placebo;Prednisolone + valaciclovir;Placebo + placebo
12 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
13 A Double Blinded Randomized Controlled Trial to Compare the Efficacy, Time to Onset, and Duration of Two Botulinum Type A Exotoxins (Onabotulinum Toxin A and Abobotulinum Toxin A) in the Treatment of "Crow's Feet." Completed NCT01529788 Phase 4 Right lateral orbital injection of Botox Cosmetic or Dysport;Left lateral orbital injection of Botox Cosmetic or Dysport
14 Prospektiv Randomisert Sammenlikning Mellom Percutan nålefasciotomi og Xiapex for Dupuytrens Kontraktur Recruiting NCT02476461 Phase 4 xiapex
15 DupuytrEn Treatment EffeCtiveness Trial (DETECT): Prospective, Randomised, Controlled, Outcome Assessor-blinded, Three-armed Parallel 1:1:1, Multicenter Trial Comparing the Effectiveness and Cost of Collagenase Clostridium Histolyticum, Percutaneous Needle Fasciotomy and Limited Fasciectomy as Short-term and Long-term Treatment Strategies in Dupuytren's Contracture Recruiting NCT03192020 Phase 4 Collagenase Clostridium Histolyticum 2.9 MG/ML [Xiaflex]
16 Comparison of Collagenase Injection and Percutaneous Needle Aponeurotomy for Treatment of Dupuytren's Disease Recruiting NCT03000114 Phase 4 XIAFLEX
17 A Randomized Controlled Trial (RCT) Comparing Clostridium Histolyticum With Needle Aponeurotomy. Active, not recruiting NCT02647619 Phase 4 Xiapex
18 Effectiveness of Armeo Spring Pediatric in Children With Narakas I Obstetric Brachial Plexus Injury Active, not recruiting NCT03780322 Phase 4
19 Surgical Fasciectomy Versus Collagenase Injection in Treating Recurrent Dupuytren Disease: a Randomized Controlled Trial Enrolling by invitation NCT03406338 Phase 4 Collagenase Clostridium Histolyticum
20 FLuorometholone as Adjunctive MEdical Therapy for TT Surgery (FLAME) Trial Not yet recruiting NCT04149210 Phase 4 Fluorometholone 0.1% Oph Susp;Artificial Tears
21 A Post Market, Open-Label Study of the Safety and Efficacy of Delayed Manipulation After Xiaflex Treatment in Subjects With Dupuytren's Contracture Terminated NCT01226121 Phase 4
22 Dynamic and Static Splinting as a Treatment for Plantar Faciiopathy Terminated NCT01588730 Phase 4
23 The Use of an Acellular Dermal Matrix in a Two-Staged Breast Reconstruction The Use of an Acellular Dermal Matrix in a Two-Staged Breast Reconstruction After Mastectomy: A Double-Blinded, Randomized Trial Terminated NCT00616824 Phase 4
24 A Randomized, Controlled Trial of Autologous Platelet Gel Treatment in Diabetic Foot Ulcers Withdrawn NCT00338702 Phase 4
25 Stem Cells In Wound Healing With Collagen Matrix as a Carrier Withdrawn NCT02314416 Phase 4
26 DMSO for Prevention of Capsular Contraction in Alloplastic Breast Reconstruction Unknown status NCT02206477 Phase 2, Phase 3 Dimethyl Sulfoxide;Saline 0.9%
27 Phase III Study of AK160 in Patients With Dupuytren's Contracture Completed NCT01588353 Phase 3 Collagenase Clostridium Histolyticum
28 A Phase 3, Double-Blind, Randomized, Placebo-Controlled Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Dupuytren's Contracture Completed NCT00528606 Phase 3
29 Double-blind, Randomized Placebo Controlled Study of the Relative Safety and Efficacy of Collagenase Therapy in the Treatment of Residual-type Dupuytren's Disease. Completed NCT00260429 Phase 3
30 Phase III Randomized Study of Collagenase in Patients With Residual Stage Dupuytren's Disease Completed NCT00014742 Phase 3 collagenase
31 The Effects of Steroid Injection With Percutaneous Needle Aponeurotomy in Patients With Dupuytren's Contracture: a Randomized Controlled Study Completed NCT00565019 Phase 3 Triamcinolone Acetonide
32 A Phase 3b Open-label, Historically-controlled Study to Assess the Safety and Efficacy of Two Concurrent Injections of AA4500 in Adult Subjects With Multiple Dupuytren's Contractures With Palpable Cords Completed NCT01674634 Phase 3
33 An Open-label Study to Assess the Safety and Efficacy of Concurrent Administration of Two Injections of AA4500 0.58 mg Into the Same Hand of Subjects With Multiple Dupuytren's Contractures Completed NCT01407068 Phase 3
34 Prospective Open-Label Investigation Of The Non-surgical Treatment With Collagenase Clostridium Histolyticum (Xiapex) Completed NCT01229436 Phase 3 Xiapex
35 A Phase 3, Open-Label Extension Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Advanced Dupuytren's Disease Completed NCT00528424 Phase 3
36 A Phase 3, Double-Blind, Randomized, Placebo-Controlled Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Advanced Dupuytren's Disease Followed by an Open-Label Extension Phase Completed NCT00533273 Phase 3
37 A Phase 3, Open-Label Study of the Safety and Efficacy of AA4500 in the Treatment of Subjects With Advanced Dupuytren's Disease Completed NCT00528840 Phase 3
38 The Efficacy of Thai Traditional Massage in Decreasing Spasticity for Elderly With Stroke Completed NCT01448980 Phase 3
39 Evaluation of the Efficiency of Autologous Platelet Gel (Platelet Rich Fibrin) Obtained From Own Patients' Blood Versus Vaselitulle in Dupuytren's Disease Postoperative Wound Healing Completed NCT00931567 Phase 2, Phase 3
40 Silicone Gel Versus Onion Extract Gel as Prevention for Postsurgical Scars: a Randomized Controlled Trial Completed NCT01861119 Phase 3 Silicone gel Kelo-cort™;;Onion extract gel Contractubex™
41 Safety and Efficacy of Botox Injection in Alleviating Post-Operative Pain and Improving Quality of Life in Lower Extremity Limb Lengthening and Deformity Correction Completed NCT00412035 Phase 3 Botulinum toxin A injection;saline injection
42 Study of the Efficacy of the Selective Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patient Following the ICF Model. A Prospective, Randomized, Controlled Single Blind Study Completed NCT00825097 Phase 3 Botulinum toxin injection
43 CPG Styles Study: A Study of the Safety of the Contour Profile Gel Breast Implants in Subjects Who Are Undergoing Primary Breast Augmentation, Primary Breast Reconstruction or Revision Completed NCT01959880 Phase 3
44 Core Gel Study of the Safety and Effectiveness of Mentor Round Low Bleed Silicone Gel-filled Mammary Prostheses in Patients Who Are Undergoing Primary Breast Augmentation, Primary Breast Reconstruction or Revision Completed NCT00753922 Phase 3
45 Study of the Safety and Effectiveness of Mentor Siltex® Contour Profile Gel Mammary Prostheses in Patients Who Are Undergoing Primary Breast Augmentation,Primary Breast Reconstruction or Revision Completed NCT00812097 Phase 3
46 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
47 Human Partial Facial Allotransplantation Completed NCT00663988 Phase 3
48 A Multi-Center, Randomized Controlled Trial Comparing The Clinical Effectiveness and Cost-Effectiveness of Collagenase Injection (Xiaflex) and Palmar Fasciectomy in the Management of Dupuytren's Disease Recruiting NCT02725528 Phase 3 collagenase injection
49 PrEvention of Posttraumatic Joint contractuRes With Ketotifen 2 Recruiting NCT03582176 Phase 3 Lactose Placebo;Ketotifen Fumarate 2mg;Ketotifen Fumarate 5mg
50 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat

Search NIH Clinical Center for Myopathy, Proximal, and Ophthalmoplegia

Cochrane evidence based reviews: contracture

Genetic Tests for Myopathy, Proximal, and Ophthalmoplegia

Anatomical Context for Myopathy, Proximal, and Ophthalmoplegia

MalaCards organs/tissues related to Myopathy, Proximal, and Ophthalmoplegia:

40
Breast, Skin, Prostate, Bone, Brain, Heart, Liver

Publications for Myopathy, Proximal, and Ophthalmoplegia

Articles related to Myopathy, Proximal, and Ophthalmoplegia:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. 54 56 6
11114175 2000
2
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations. 56 6
24193343 2014
3
MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. 56 6
23388406 2013
4
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies. 56 6
23489661 2013
5
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. 56 6
20418530 2010
6
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. 56 6
15548556 2005
7
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
25313375 2014
8
A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation. 6
16130113 2005
9
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. 6
11889243 2002
10
Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. 56
10205275 1999
11
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. 56
9708547 1998
12
The Myb-related protein MYPOP is a novel intrinsic host restriction factor of oncogenic human papillomaviruses. 61
30018400 2018
13
Genetic variations related to maternal whole blood mitochondrial DNA copy number: a genome-wide and candidate gene study. 61
27806667 2017
14
The MYpop toolbox: Putting yeast stress responses in cellular context on single cell and population scales. 61
26952199 2016
15
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. 54
20175956 2010
16
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. 54
19807743 2009
17
[Skin graft procedures in burn surgery]. 54
19495713 2009
18
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. 54
18554282 2008
19
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. 54
18564801 2008
20
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 54
18041775 2007
21
Limb-girdle muscular dystrophy due to emerin gene mutations. 54
17620497 2007
22
Dual cardiac contractile effects of the alpha2-AMPK deletion in low-flow ischemia and reperfusion. 54
17337600 2007
23
[Emery-Dreifuss muscular dystrophy: case report]. 54
16791377 2006
24
Joint capsule matrix turnover in a rabbit model of chronic joint contractures: Correlation with human contractures. 54
16596651 2006
25
[The experimental study of mechanism of integrin in hypertrophic scar contracture]. 54
16573163 2006
26
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. 54
16084089 2005
27
High rate of joint capsule matrix turnover in chronic human elbow contractures. 54
16205164 2005
28
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. 54
15694138 2005
29
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 54
15563506 2005
30
Genetics of laminopathies. 54
15773749 2005
31
Nuclear membrane protein emerin: roles in gene regulation, actin dynamics and human disease. 54
15773747 2005
32
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. 54
15523624 2004
33
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 54
12840783 2003
34
Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. 54
12151923 2002
35
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. 54
12011280 2002
36
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 54
11865138 2002
37
Novel mutations in the emerin gene in Israeli families. 54
11385714 2001
38
Cytokine manipulation of explanted Dupuytren's affected human palmar fascia. 54
12678125 2001
39
Emerin presence in platelets. 54
10965799 2000
40
5-HT2 receptor antagonist-mediated inhibition of halothane-induced contractures in skeletal muscle specimens from malignant hyperthermia susceptible patients. 54
10551274 1999
41
[The effect of cytochrome c on the myocardium during reperfusion]. 54
10598459 1999
42
Alteration of fetal oxygenation and responses to acute hypoxemia by increased myometrial contracture frequency produced by pulse administration of oxytocin to the pregnant ewe from 96 to 131 days' gestation. 54
10329878 1999
43
GABAB receptors are involved in the control of acute opiate withdrawal in isolated tissue. 54
10368870 1999
44
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. 54
9781539 1998
45
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. 54
9829276 1998
46
Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. 54
9590295 1998
47
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. 54
9334205 1997
48
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 54
8817344 1996
49
The role of hsp70 and IP3-DAG mechanism in the adaptive stabilization of structures and heart protection. 54
8762023 1996
50
C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response. 54
7633940 1995

Variations for Myopathy, Proximal, and Ophthalmoplegia

ClinVar genetic disease variations for Myopathy, Proximal, and Ophthalmoplegia:

6 (show top 50) (show all 150) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH2 NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter)SNV Pathogenic 183664 rs758395765 17:10436638-10436638 17:10533321-10533321
2 MYH2 NM_017534.6(MYH2):c.2400del (p.Phe801fs)deletion Pathogenic 183665 rs879255254 17:10436643-10436643 17:10533326-10533326
3 MYH2 NM_017534.6(MYH2):c.5609T>C (p.Leu1870Pro)SNV Pathogenic 183660 rs786201023 17:10426471-10426471 17:10523154-10523154
4 MYH2 NM_017534.6(MYH2):c.904+1G>ASNV Pathogenic 183661 rs879255253 17:10446191-10446191 17:10542874-10542874
5 MYH2 NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter)SNV Pathogenic 183662 rs762121316 17:10436696-10436696 17:10533379-10533379
6 MYH2 NM_017534.6(MYH2):c.1975-2A>GSNV Pathogenic 183663 rs746770617 17:10438684-10438684 17:10535367-10535367
7 MYH2 NM_017534.6(MYH2):c.706G>A (p.Ala236Thr)SNV Pathogenic 183666 rs147708782 17:10447063-10447063 17:10543746-10543746
8 MYH2 NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)SNV Pathogenic 183667 rs756953958 17:10447417-10447417 17:10544100-10544100
9 MYH2 NM_017534.6(MYH2):c.2116G>A (p.Glu706Lys)SNV Pathogenic 14137 rs121434589 17:10438454-10438454 17:10535137-10535137
10 MYH2 NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter)SNV Pathogenic 465936 rs758264018 17:10432502-10432502 17:10529185-10529185
11 MYH2 NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter)SNV Pathogenic 576776 rs929311433 17:10428768-10428768 17:10525451-10525451
12 MYH2 , MYHAS NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter)SNV Pathogenic 625152 rs545623839 17:10436666-10436666 17:10533349-10533349
13 MYH2 NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)SNV Pathogenic 651403 17:10432099-10432099 17:10528782-10528782
14 MYH2 NM_017534.6(MYH2):c.3014del (p.Leu1005fs)deletion Pathogenic 578108 rs1567730339 17:10432984-10432984 17:10529667-10529667
15 MYH2 NM_017534.6(MYH2):c.2672dup (p.Asn891fs)duplication Pathogenic 582112 rs763860580 17:10434974-10434975 17:10531657-10531658
16 MYH2 NM_017534.6(MYH2):c.741+1G>ASNV Likely pathogenic 578895 rs770945288 17:10447027-10447027 17:10543710-10543710
17 MYH2 NM_017534.6(MYH2):c.4537+1G>CSNV Likely pathogenic 576854 rs567336764 17:10428767-10428767 17:10525450-10525450
18 MYH2 NM_017534.6(MYH2):c.4662+2T>GSNV Likely pathogenic 649760 17:10428539-10428539 17:10525222-10525222
19 MYH2 NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)SNV Likely pathogenic 617568 rs376357016 17:10432291-10432291 17:10528974-10528974
20 MYH2 NM_017534.6(MYH2):c.5673+1G>CSNV Likely pathogenic 636251 17:10426406-10426406 17:10523089-10523089
21 MYH2 NM_017534.6(MYH2):c.2063-2A>TSNV Likely pathogenic 574451 rs1349048266 17:10438509-10438509 17:10535192-10535192
22 MYH2 NM_017534.6(MYH2):c.3002del (p.Glu1001fs)deletion Likely pathogenic 208596 rs797045096 17:10432996-10432996 17:10529679-10529679
23 MYH2 NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)SNV Conflicting interpretations of pathogenicity 225415 rs200662973 17:10436629-10436629 17:10533312-10533312
24 MYH2 NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)SNV Conflicting interpretations of pathogenicity 195769 rs143872329 17:10433181-10433181 17:10529864-10529864
25 MYH2 NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)SNV Conflicting interpretations of pathogenicity 260825 rs138393827 17:10428271-10428271 17:10524954-10524954
26 MYH2 NM_017534.6(MYH2):c.1227C>T (p.Val409=)SNV Conflicting interpretations of pathogenicity 321692 rs563146441 17:10442800-10442800 17:10539483-10539483
27 MYH2 NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)SNV Conflicting interpretations of pathogenicity 321680 rs780124402 17:10433364-10433364 17:10530047-10530047
28 MYH2 NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)SNV Conflicting interpretations of pathogenicity 321678 rs200217946 17:10432788-10432788 17:10529471-10529471
29 MYH2 NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)SNV Uncertain significance 321682 rs150566222 17:10434993-10434993 17:10531676-10531676
30 MYH2 NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly)SNV Uncertain significance 321683 rs201784718 17:10435021-10435021 17:10531704-10531704
31 MYH2 NM_017534.6(MYH2):c.1160C>T (p.Ala387Val)SNV Uncertain significance 374380 rs527337606 17:10442867-10442867 17:10539550-10539550
32 MYH2 NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp)SNV Uncertain significance 465931 rs138206136 17:10433266-10433266 17:10529949-10529949
33 MYH2 NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser)SNV Uncertain significance 465924 rs778516827 17:10440568-10440568 17:10537251-10537251
34 MYH2 NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)SNV Uncertain significance 291167 rs117390537 17:10436860-10436860 17:10533543-10533543
35 MYH2 NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln)SNV Uncertain significance 321661 rs201882457 17:10424679-10424679 17:10521362-10521362
36 MYH2 NM_017534.6(MYH2):c.5564A>G (p.Glu1855Gly)SNV Uncertain significance 465947 rs200726747 17:10426638-10426638 17:10523321-10523321
37 MYH2 NM_017534.6(MYH2):c.5494G>A (p.Val1832Ile)SNV Uncertain significance 465945 rs1462537897 17:10426708-10426708 17:10523391-10523391
38 MYH2 NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)SNV Uncertain significance 499533 rs1555571267 17:10440655-10440655 17:10537338-10537338
39 MYH2 NM_017534.6(MYH2):c.4330G>A (p.Ala1444Thr)SNV Uncertain significance 534343 rs142908651 17:10429051-10429051 17:10525734-10525734
40 MYH2 NM_017534.6(MYH2):c.2789A>G (p.Glu930Gly)SNV Uncertain significance 534350 rs1335748239 17:10433300-10433300 17:10529983-10529983
41 MYH2 NM_017534.6(MYH2):c.2020C>T (p.His674Tyr)SNV Uncertain significance 534353 rs1555571125 17:10438637-10438637 17:10535320-10535320
42 MYH2 NM_017534.6(MYH2):c.2000A>G (p.Asn667Ser)SNV Uncertain significance 534344 rs750604697 17:10438657-10438657 17:10535340-10535340
43 MYH2 NM_017534.6(MYH2):c.1587+5G>TSNV Uncertain significance 534345 rs192223842 17:10440977-10440977 17:10537660-10537660
44 MYH2 NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg)SNV Uncertain significance 534354 rs1555569889 17:10428361-10428361 17:10525044-10525044
45 MYH2 NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)SNV Uncertain significance 534347 rs756811670 17:10431115-10431115 17:10527798-10527798
46 MYH2 NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp)SNV Uncertain significance 534342 rs191102801 17:10431116-10431116 17:10527799-10527799
47 MYH2 NM_017534.6(MYH2):c.3571C>T (p.His1191Tyr)SNV Uncertain significance 534339 rs938797010 17:10432180-10432180 17:10528863-10528863
48 MYH2 NM_017534.6(MYH2):c.2785A>T (p.Thr929Ser)SNV Uncertain significance 465930 rs1555570593 17:10433304-10433304 17:10529987-10529987
49 MYH2 NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro)SNV Uncertain significance 534348 rs575266045 17:10432480-10432480 17:10529163-10529163
50 MYH2 NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro)SNV Uncertain significance 534351 rs765135888 17:10428929-10428929 17:10525612-10525612

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Proximal, and Ophthalmoplegia:

73
# Symbol AA change Variation ID SNP ID
1 MYH2 p.Glu706Lys VAR_032630 rs121434589

Expression for Myopathy, Proximal, and Ophthalmoplegia

Search GEO for disease gene expression data for Myopathy, Proximal, and Ophthalmoplegia.

Pathways for Myopathy, Proximal, and Ophthalmoplegia

Pathways related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 COL6A2 COL6A1
2 10.59 COL6A2 COL6A1
3 10.19 COL6A2 COL6A1

GO Terms for Myopathy, Proximal, and Ophthalmoplegia

Cellular components related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.26 RYR1 MYH2 COL6A2 COL6A1
2 collagen trimer GO:0005581 9.16 COL6A2 COL6A1
3 sarcolemma GO:0042383 8.8 RYR1 COL6A2 COL6A1

Biological processes related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.96 COL6A2 COL6A1
2 muscle contraction GO:0006936 8.8 RYR1 MYH2 EMD

Molecular functions related to Myopathy, Proximal, and Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 COL6A2 COL6A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL6A2 COL6A1

Sources for Myopathy, Proximal, and Ophthalmoplegia

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