PGBM1
MCID: PLY118
MIFTS: 55

Polyglucosan Body Myopathy 1 with or Without Immunodeficiency (PGBM1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Infectious diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

MalaCards integrated aliases for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

Name: Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 57 73 29 6 71
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency 57 73 39
Pgbm1 57 58 73
Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis 58 36
Pbmei 57 73
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency; Pbmei 57
Polyglucosan Body Myopathy Type 1 58
Muscle Weakness 44

Characteristics:

Orphanet epidemiological data:

58
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
polyglucosan body myopathy type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in infancy or early childhood


HPO:

31
polyglucosan body myopathy 1 with or without immunodeficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases
Inborn errors of metabolism
Rare immunological diseases


Summaries for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

KEGG : 36 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) gene coding for a component of the linear ubiquitination chain assembly complex (LUBAC). The patients developed recurrent episodes of fever and systemic inflammation with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient patients failed to develop other cardinal features of the primary autoinflammatory diseases, such as pleuritis, pericarditis, peritonitis, or neutrophilic dermatoses.

MalaCards based summary : Polyglucosan Body Myopathy 1 with or Without Immunodeficiency, also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency, is related to glycogen storage disease ii and muscular dystrophy, limb-girdle, autosomal dominant 2, and has symptoms including myalgia An important gene associated with Polyglucosan Body Myopathy 1 with or Without Immunodeficiency is RBCK1 (RANBP2-Type And C3HC4-Type Zinc Finger Containing 1), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Testosterone and Chloroprocaine have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and bone, and related phenotypes are scoliosis and ptosis

OMIM® : 57 Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). (615895) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Polyglucosan body myopathy 1 with or without immunodeficiency: A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation.

Related Diseases for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Diseases related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1006)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ii 32.1 FKRP DMD CAPN3
2 muscular dystrophy, limb-girdle, autosomal dominant 2 31.9 FKRP CAPN3
3 nonaka myopathy 31.9 FKRP DMD CAPN3
4 muscular dystrophy, becker type 31.9 FKRP DMD CAPN3
5 muscular dystrophy, limb-girdle, autosomal recessive 8 31.8 FKRP CAPN3
6 emery-dreifuss muscular dystrophy 31.8 FKRP DMD CAPN3
7 ullrich congenital muscular dystrophy 1 31.7 FKRP DMD COL6A2 CAPN3
8 facioscapulohumeral muscular dystrophy 1 31.7 FKRP DMD CAPN3
9 myositis 31.7 RYR1 DMD CAPN3
10 muscular dystrophy, limb-girdle, autosomal recessive 7 31.6 FKRP DMD CAPN3
11 tibial muscular dystrophy 31.6 FKRP DMD CAPN3
12 muscular dystrophy, congenital merosin-deficient, 1a 31.6 FKRP DMD
13 spinal muscular atrophy 31.6 RYR1 DMD CAPN3 BICD2
14 muscular dystrophy-dystroglycanopathy , type c, 2 31.5 FKRP CAPN3
15 muscular dystrophy, limb-girdle, autosomal recessive 2 31.5 FKRP DMD CAPN3
16 walker-warburg syndrome 31.5 FKRP DMD COL6A2 CAPN3
17 myopathy, myofibrillar, 3 31.5 DMD CAPN3
18 congenital muscular dystrophy-dystroglycanopathy type a 31.4 FKRP DMD
19 muscular dystrophy, congenital, lmna-related 31.4 RYR1 FKRP DMD COL6A2 CAPN3
20 muscular dystrophy-dystroglycanopathy , type c, 5 31.3 FKRP CAPN3
21 hypokalemic periodic paralysis, type 1 31.3 SLC12A3 SCN4A RYR1
22 creatine phosphokinase, elevated serum 31.2 DMD CAPN3
23 rigid spine muscular dystrophy 1 31.1 RYR1 FKRP DMD CAPN3
24 bethlem myopathy 1 31.1 RYR1 FKRP DMD COL6A2 CAPN3
25 multiple pterygium syndrome, escobar variant 31.1 RYR1 DMD CHRND
26 hyperkalemic periodic paralysis 31.0 SCN4A RYR1
27 paramyotonia congenita of von eulenburg 31.0 SCN4A RYR1 CHRND
28 muscular dystrophy 30.7 SCN4A RYR1 FKRP DMD COL6A2 CAPN3
29 isolated elevated serum creatine phosphokinase levels 30.6 SCN4A RYR1 FKRP DMD CAPN3
30 paresthesia 30.4 FKRP CAPN3
31 congenital myasthenic syndrome 30.3 SYT2 SCN4A RYR1 FKRP CHRND BRCA2
32 miyoshi muscular dystrophy 30.2 FKRP DMD CAPN3
33 autosomal recessive limb-girdle muscular dystrophy type 2l 30.1 FKRP CAPN3
34 myopathy 30.0 SCN4A RYR1 RBCK1 FKRP DMD COL6A2
35 cobblestone lissencephaly 29.9 FKRP DMD
36 malignant hyperthermia 29.5 SCN4A RYR1 DMD
37 ptosis 29.4 SCN4A RYR1 DMD CHRND
38 familial periodic paralysis 29.1 SLC12A3 SCN4A RYR1
39 neuromuscular junction disease 29.1 SYT2 SCN4A CHRND
40 neuromuscular disease 29.0 SYT2 SCN4A RYR1 FKRP DMD CHRND
41 distal arthrogryposis 28.6 SLC12A3 SCN4A RYR1 CHRND BICD2
42 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 11.6
43 neuropathy, ataxia, and retinitis pigmentosa 11.6
44 episodic muscle weakness, x-linked 11.4
45 cardiomyopathy, dilated, 1x 11.4
46 myasthenia gravis 11.3
47 central core disease of muscle 11.3
48 myofibrillar myopathy 11.3
49 nemaline myopathy 11.3
50 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.3

Graphical network of the top 20 diseases related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:



Diseases related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Symptoms & Phenotypes for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Human phenotypes related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

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 hepatomegaly 31 occasional (7.5%) HP:0002240
4 immunodeficiency 31 occasional (7.5%) HP:0002721
5 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
6 eczema 31 occasional (7.5%) HP:0000964
7 recurrent infections 31 occasional (7.5%) HP:0002719
8 lymphadenopathy 31 occasional (7.5%) HP:0002716
9 failure to thrive 31 HP:0001508
10 growth delay 31 HP:0001510
11 elevated serum creatine kinase 31 HP:0003236
12 dilated cardiomyopathy 31 HP:0001644
13 myalgia 31 HP:0003326
14 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor growth

Muscle Soft Tissue:
myalgia
proximal muscle weakness
polyglucosan accumulation

Immunology:
recurrent infections (in some patients)
decreased memory b cells (in some patients)
lymphadenopathy (in some patients)
immunodeficiency (in some patients)
hyperinflammatory state (in some patients)
more
Abdomen Liver:
hepatomegaly (in some patients)
polyglucosan accumulation (in some patients)

Skin Nails Hair Skin:
eczema (in some patients)

Cardiovascular Heart:
dilated cardiomyopathy
amylopectinosis seen on biopsy
polyglucosan accumulation

Skeletal Spine:
scoliosis (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes (in some patients)

Head And Neck Eyes:
ptosis (in some patients)

Neurologic Central Nervous System:
impaired ambulation due to muscle weakness

Clinical features from OMIM®:

615895 (Updated 05-Mar-2021)

UMLS symptoms related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:


myalgia

MGI Mouse Phenotypes related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 BICD2 BRCA2 COL6A2 DMD FKRP GCH1
2 growth/size/body region MP:0005378 9.44 ACOX1 BICD2 BRCA2 CAPN3 COL6A2 DMD

Drugs & Therapeutics for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Drugs for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 216)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4 58-22-0 6013
2
Chloroprocaine Approved Phase 4 133-16-4 8612
3
Fosinopril Approved Phase 4 98048-97-6 55891
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
Azathioprine Approved Phase 4 446-86-6 2265
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Simvastatin Approved Phase 4 79902-63-9 54454
8
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
9
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
10 Epoetin alfa Phase 4 113427-24-0
11 Hormone Antagonists Phase 4
12 Hormones Phase 4
13 Androgens Phase 4
14 abobotulinumtoxinA Phase 4
15 Botulinum Toxins, Type A Phase 4
16 Botulinum Toxins Phase 4
17 Ubiquinone Phase 4
18 Immunosuppressive Agents Phase 4
19 Angiotensin-Converting Enzyme Inhibitors Phase 4
20 Antihypertensive Agents Phase 4
21 HIV Protease Inhibitors Phase 4
22
protease inhibitors Phase 4
23 Immunologic Factors Phase 4
24 Antirheumatic Agents Phase 4
25 Anti-Inflammatory Agents Phase 4
26 glucocorticoids Phase 4
27 Antineoplastic Agents, Hormonal Phase 4
28 Anesthetics Phase 4
29 Cholinergic Agents Phase 4
30 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
31 Neuromuscular Blocking Agents Phase 4
32 Neuromuscular Nondepolarizing Agents Phase 4
33 Bromides Phase 4
34 Antimetabolites Phase 4
35 Lipid Regulating Agents Phase 4
36 Hypolipidemic Agents Phase 4
37 Anticholesteremic Agents Phase 4
38 Neurotransmitter Agents Phase 4
39 Respiratory System Agents Phase 4
40 Anti-Asthmatic Agents Phase 4
41 Adrenergic beta-Agonists Phase 4
42 Albuterol Phase 4
43 Adrenergic Agents Phase 4
44 Bronchodilator Agents Phase 4
45 Adrenergic Agonists Phase 4
46 Tocolytic Agents Phase 4
47
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
48
Tramadol Approved, Investigational Phase 2, Phase 3 27203-92-5 33741
49
Gabapentin Approved, Investigational Phase 2, Phase 3 60142-96-3 3446
50
Neostigmine Approved, Vet_approved Phase 3 59-99-4 4456

Interventional clinical trials:

(show top 50) (show all 386)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
2 Muscular Electrostimulation of the Sedated and Mechanically Ventilated Critically Ill Patient. Analysis of the Effect on Acquired Muscular Weakness and Its Clinical Consequences. Unknown status NCT02033057 Phase 4
3 Does Saline Injection Around Phrenic Nerve Reduce Incidence of Diaphragmatic Paresis Following Interscalene Block? Unknown status NCT02893228 Phase 4 Levobupivacaine
4 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
5 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
6 A Randomized, Double-blind, Placebo-controlled, Crossover Study to Evaluate the Efficacy of Coenzyme Q10 in Improving Mitochondrial Function in Older Athletes Treated With Statin Medications Completed NCT01026311 Phase 4 Coenzyme q 10;placebo
7 A Prospective Analysis of Preoperative Fascia Iliaca Block for Hip Arthroscopy Completed NCT02623361 Phase 4 Peripheral Nerve Block;Sham Block
8 The Effects of Ultrasound Guided Adductor Canal Block Versus Femoral Nerve Block on Quadriceps Strength and Fall-risk: a Blinded Randomized Trial of Volunteers Completed NCT01655277 Phase 4
9 ACE-inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease Completed NCT01014338 Phase 4 Fosinopril
10 Skilling-up Exercise for Elderly in Need of Care Completed NCT02102919 Phase 4
11 A Randomized Trial of Plasma Exchange vs. IVIG in the Treatment of Myasthenia Gravis Completed NCT01179893 Phase 4
12 Comparison of Two Tapering Strategies of Prednisone in Patients With Generalised Myasthenia Gravis Treated With Prednisone and Azathioprine: a Single-blind Randomised Controlled Multicenter Study Completed NCT00987116 Phase 4 Prednisone - Azathioprine
13 Deep Versus Moderate Neuromuscular Blockade for Optimising Surgical Conditions Include Patient Benefits During Spinal Surgery: A Randomized Controlled Double Blinded Clinical Study Recruiting NCT02778945 Phase 4 Rocuronium 0.9 mg/kg;Rocuronium 0.6 mg/kg
14 Effect of Pyridostigmine (Mestinon) on Muscle Strength in Myasthenia Gravis Recruiting NCT03510546 Phase 4 Pyridostigmine;Placebo oral capsule
15 7T Magnetic Resonance Spectroscopy and Skeletal Muscle Biopsy Findings in Statin Recruiting NCT04507373 Phase 4 Simvastatin 40mg
16 The Effect of an Oral Beta-2 Agonist on Respiratory Muscle Strength in SCI Active, not recruiting NCT02508311 Phase 4 Oral Albuterol Extended Release;Placebo
17 The Impact of Serum Vitamin D and Calcium Levels on the Body Composition, Bone Mineral Density, Muscle Strength, Exercise Tolerance, Fatigue and Inflammatory Activity in Patients With Crohn's Disease: a Randomized Controlled Trial Enrolling by invitation NCT02704624 Phase 4
18 Effect of PROGRESSive Resistance Training, Protein Supplements and Testosterone in Older Frail Men With Testosterone Deficiency (PROGRESS Trial) Unknown status NCT02873559 Phase 2, Phase 3 testosterone
19 Does Gabapentin Reduce Quadriceps Muscle Weakness After Anterior Cruciate Ligament Reconstruction? A Randomised Controlled Trial Unknown status NCT03496389 Phase 2, Phase 3 Gabapentin;Tramadol;Panadol
20 Effects of Levosimendan on Diaphragm Function in Mechanically Ventilated Patients Unknown status NCT01721434 Phase 2, Phase 3 Levosimendan;Placebo
21 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
22 Effects of Creatine Supplementation on Muscle Mass and Function Among Older Women Subjected to Resistance Training Completed NCT02188849 Phase 3 Creatine
23 Phase 3 Study of Vitamin D Analog (Alfacalcidol) on Muscle Strength in Elderly Indonesian Women Who Have Low Handgrip Strength Completed NCT02327091 Phase 3 alfacalcidol
24 Comparison of Magnesium Chloride Infusions Versus Placebo Administered Concomitantly With 100% Oxygen Given to Patients Who Have Residual Muscle Weakness From a Stroke That Occurred Three Months to Four Years Ago Completed NCT00933868 Phase 2, Phase 3 Magnesium Chloride;Placebo
25 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Phase 3 Trial to Evaluate the Efficacy, Safety and Tolerability of ARGX-113 in Patients With Myasthenia Gravis Having Generalized Muscle Weakness Completed NCT03669588 Phase 3
26 Sugammadex and the Diaphragm: Recovery of Diaphragmatic Function and Neuromuscular Blockade. A Double-blind Randomized Controlled Trial Completed NCT01962298 Phase 3 sugammadex 2mg/kg;neostigmine;sugammadex 4mg/kg;placebo;Single rocuronium dose;Repeated rocuronium dose;Continuous rocuronium infusion
27 A Prospective, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multicenter, 36-Week Trial to Assess the Efficacy and Safety of Adjunct Mycophenolate Mofetil (MMF) to Maintain or Improve Symptom Control With Reduced Corticosteroid in Subjects With Myasthenia Gravis Completed NCT00683969 Phase 3 mycophenolate mofetil (CellCept);placebo
28 Effects of Inspiratory Muscle Training in Patients With Chronic Obstructive Pulmonary Disease - a Randomized Controlled Trial Completed NCT01397396 Phase 3
29 Evaluation of the Safety and Performance of the NESS L300 Plus System Completed NCT01237860 Phase 3
30 A Randomized, Double-Blind Study to Evaluate the Safety of Continued Treatment With CellCept in Patients With Well-Controlled Myasthenia Gravis Receiving a Stable Dose of Prednisone Completed NCT00408213 Phase 3 mycophenolate mofetil [CellCept];Placebo
31 FK506 Phase 3 Study: a Double Blind Placebo Controlled Study for Steroid Non-Resistant Myasthenia Gravis Patients Completed NCT00309088 Phase 3 tacrolimus;placebo
32 IVIG Treatment Compared to Placebo in Patients With Myasthenia Gravis: A Randomized Clinical Trial Completed NCT00306033 Phase 3 Intravenous ImmuneGlobulin
33 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Safety and Efficacy of Eculizumab in Subjects With Refractory Generalized Myasthenia Gravis (gMG) Completed NCT01997229 Phase 3 Placebo
34 A Multi-Center, Single-Blind, Randomized Study Comparing Thymectomy to No Thymectomy in Non-Thymomatous Myasthenia Gravis (MG) Patients Receiving Prednisone Completed NCT00294658 Phase 3 prednisone alone
35 A Trial of Mycophenolate Mofetil in Myasthenia Gravis Completed NCT00285350 Phase 3 mycophenolate mofetil
36 A Randomized, Double-blinded, Placebo-controlled, and Multi-centered Clinical Trial Evaluating the Efficacy and Safety of Tacrolimus Capsule in Myasthenia Gravis That Was Insufficiently Treated by Glucocorticoid Therapy Completed NCT01325571 Phase 3 Tacrolimus capsule;Placebo
37 A Multicenter, Prospective, Open-label, Non-controlled Clinical Trial to Assess the Efficacy and Safety of Immune Globulin (Human), 10% Caprylate/Chromatography Purified (IGIV-C) in Patients With Myasthenia Gravis Exacerbations Completed NCT02413580 Phase 3
38 A Randomized, Controlled Clinical Study of GB-0998 for Treatment of Generalized Myasthenia Gravis Completed NCT00515450 Phase 3
39 A Phase III, Open-label Extension Trial of ECU-MG-301 to Evaluate the Safety and Efficacy of Eculizumab in Subjects With Refractory Generalized Myasthenia Gravis (gMG) Completed NCT02301624 Phase 3 Placebo
40 A Phase 3, Multicenter, Randomized, Double Blind, Placebo-Controlled Study to Confirm the Safety, Tolerability, and Efficacy of Zilucoplan in Subjects With Generalized Myasthenia Gravis Recruiting NCT04115293 Phase 3 zilucoplan (RA101495);Placebo
41 An Open-Label, Multicenter Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Eculizumab in Pediatric Patients With Refractory Generalized Myasthenia Gravis Recruiting NCT03759366 Phase 3 Eculizumab
42 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study Evaluating Efficacy and Safety of Rozanolixizumab in Adult Patients With Generalized Myasthenia Gravis Recruiting NCT03971422 Phase 3 Rozanolixizumab
43 Beta-agonist Efficacy and Tolerability as Adjuvant Therapy in Myasthenia Gravis Recruiting NCT03914638 Phase 2, Phase 3 Salbutamol 4Mg Tablet;Placebo oral capsule
44 A Phase 3, Multicenter, Open-Label Extension Study of Zilucoplan in Subjects With Generalized Myasthenia Gravis Recruiting NCT04225871 Phase 3 zilucoplan (RA101495)
45 A Randomized, Double-blind, Multicenter, Placebo-controlled Phase 3 Study With Open-label Period to Evaluate the Efficacy and Safety of Inebilizumab in Adults With Myasthenia Gravis Recruiting NCT04524273 Phase 3 inebilizumab;IV Placebo
46 A Long-Term, Single-Arm, Open-Label, Multicenter, Phase 3 Follow-on Trial of ARGX-113-1704 to Evaluate the Safety and Tolerability of ARGX-113 in Patients With Myasthenia Gravis Having Generalized Muscle Weakness Active, not recruiting NCT03770403 Phase 3
47 Long Term Safety Study of Amifampridine Phosphate in Patients With MuSK Antibody Positive and AChR (Acetylcholine Receptor) Antibody Positive Myasthenia Gravis Active, not recruiting NCT03579966 Phase 3 Amifampridine Phosphate
48 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Ravulizumab in Complement-Inhibitor-Naïve Adult Patients With Generalized Myasthenia Gravis Active, not recruiting NCT03920293 Phase 3 Placebo
49 A Randomized, Double-blind, Placebo-controlled Multicenter Study Evaluating the Safety and Efficacy of Rituximab (Mabthera®) in Patients With New Onset Generalized Myasthenia Gravis (MG) Active, not recruiting NCT02950155 Phase 3 Rituximab;Sodium Chloride solution
50 A Randomized, Open-Label Extension Study to Investigate the Long-Term Safety, Tolerability, and Efficacy of Rozanolixizumab in Adult Patients With Generalized Myasthenia Gravis Enrolling by invitation NCT04124965 Phase 3 Rozanolixizumab

Search NIH Clinical Center for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Cochrane evidence based reviews: muscle weakness

Genetic Tests for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Genetic tests related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

# Genetic test Affiliating Genes
1 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 29 RBCK1

Anatomical Context for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

MalaCards organs/tissues related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

40
Liver, Skeletal Muscle, Bone, Tongue, T Cells, B Cells, Heart

Publications for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Articles related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

# Title Authors PMID Year
1
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. 6 57
23798481 2013
2
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. 57 6
23889995 2013
3
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. 6 57
23104095 2012
4
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. 57 6
18691923 2008
5
[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family]. 57
7971833 1994
6
Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China. 61
33413275 2021

Variations for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

ClinVar genetic disease variations for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

6 (show top 50) (show all 144)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A3 NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) SNV Pathogenic 208612 rs138977195 16:56921879-56921879 16:56887967-56887967
2 RBCK1 NM_031229.4(RBCK1):c.553C>T (p.Gln185Ter) SNV Pathogenic 140623 rs727503762 20:400083-400083 20:419439-419439
3 RBCK1 NM_031229.4(RBCK1):c.121_122del (p.Leu41fs) Deletion Pathogenic 140624 rs727503763 20:390623-390624 20:409979-409980
4 RBCK1 NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) Deletion Pathogenic 140625 rs727503764 20:401651-401654 20:421007-421010
5 RBCK1 NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) SNV Pathogenic 140626 rs566912235 20:408087-408087 20:427443-427443
6 RBCK1 NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter) SNV Pathogenic 140627 rs727503765 20:400346-400346 20:419702-419702
7 RBCK1 NM_031229.4(RBCK1):c.720_723GGCG[3] (p.Glu243fs) Microsatellite Pathogenic 140628 rs730880329 20:400338-400339 20:419694-419695
8 RBCK1 NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) SNV Pathogenic 140629 rs587777561 20:401548-401548 20:420904-420904
9 RBCK1 NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) Duplication Pathogenic 140630 rs730880330 20:400315-400316 20:419671-419672
10 DMD NM_004006.2(DMD):c.1637G>A (p.Trp546Ter) SNV Pathogenic 374191 rs1057518962 X:32591929-32591929 X:32573812-32573812
11 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs) Deletion Pathogenic 281062 rs1555421871 15:42691815-42691815 15:42399617-42399617
12 RBCK1 NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) SNV Pathogenic 430898 rs1555787599 20:408039-408039 20:427395-427395
13 SURF1 NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) Microsatellite Pathogenic 12770 rs782316919 9:136218825-136218826 9:133351970-133351971
14 RBCK1 NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) SNV Pathogenic 580166 rs780854072 20:407981-407981 20:427337-427337
15 RBCK1 NM_031229.4(RBCK1):c.582+1G>C SNV Pathogenic 658931 rs1017046170 20:400113-400113 20:419469-419469
16 RBCK1 NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) SNV Pathogenic 656156 rs1568554654 20:398439-398439 20:417795-417795
17 RBCK1 NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) SNV Pathogenic 804223 rs1342598444 20:409697-409697 20:429053-429053
18 RBCK1 NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter) SNV Pathogenic 960184 20:398445-398445 20:417801-417801
19 COL6A2 NM_001849.4(COL6A2):c.1970-9G>A SNV Pathogenic 265506 rs747900252 21:47545690-47545690 21:46125776-46125776
20 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276
21 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) Deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291
22 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
23 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
24 SCN4A NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) SNV Likely pathogenic 373945 rs121908552 17:62041947-62041947 17:63964587-63964587
25 RBCK1 NM_031229.4(RBCK1):c.461-2A>G SNV Likely pathogenic 992973 20:399989-399989 20:419345-419345
26 RBCK1 NM_031229.4(RBCK1):c.582+1G>A SNV Likely pathogenic 931108 20:400113-400113 20:419469-419469
27 CAPN3 NM_000070.3(CAPN3):c.632+5G>A SNV Likely pathogenic 523316 rs1555420508 15:42680089-42680089 15:42387891-42387891
28 SURF1 NM_003172.4(SURF1):c.751+5G>A SNV Likely pathogenic 373217 rs781934508 9:136219296-136219296 9:133352441-133352441
29 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) Deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009
30 CHRND NM_000751.3(CHRND):c.822del (p.Ser274fs) Deletion Likely pathogenic 374186 rs1057518958 2:233396063-233396063 2:232531353-232531353
31 GCH1 NM_000161.3(GCH1):c.655C>T (p.Gln219Ter) SNV Likely pathogenic 523338 rs1555358382 14:55310833-55310833 14:54844115-54844115
32 CHRND NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) SNV Likely pathogenic 374185 rs1057518957 2:233399853-233399853 2:232535143-232535143
33 SYT2 NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del) Deletion Likely pathogenic 373966 rs1057518805 1:202566056-202566061 1:202596928-202596933
34 ACOX1 NM_004035.7(ACOX1):c.1729-1G>A SNV Likely pathogenic 635861 rs566377861 17:73944539-73944539 17:75948458-75948458
35 RYR1 NM_000540.2(RYR1):c.11178_11193+7del Deletion Likely pathogenic 636301 rs1600949818 19:39023164-39023186 19:38532524-38532546
36 MYOT NM_006790.3(MYOT):c.1046C>T (p.Pro349Leu) SNV Uncertain significance 689568 rs1288405198 5:137221758-137221758 5:137886069-137886069
37 FHL1 NM_001159699.2(FHL1):c.211C>T (p.His71Tyr) SNV Uncertain significance 694654 rs1603270864 X:135289181-135289181 X:136207022-136207022
38 CFL2 NM_138638.5(CFL2):c.353C>G (p.Ala118Gly) SNV Uncertain significance 689581 rs865927835 14:35182301-35182301 14:34713095-34713095
39 SLC12A3 NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) SNV Uncertain significance 523358 rs779074538 16:56902236-56902236 16:56868324-56868324
40 DYSF NM_001130987.2(DYSF):c.2444T>A (p.Met815Lys) SNV Uncertain significance 523413 rs1553550862 2:71791222-71791222 2:71564092-71564092
41 FLNC NM_001458.4(FLNC):c.1325C>G (p.Pro442Arg) SNV Uncertain significance 446471 rs1554397822 7:128478771-128478771 7:128838717-128838717
42 DYNC1H1 NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) SNV Uncertain significance 373991 rs139842853 14:102471451-102471451 14:102005114-102005114
43 RYR1 NM_000540.2(RYR1):c.3202T>C (p.Cys1068Arg) SNV Uncertain significance 373917 rs1057518768 19:38958273-38958273 19:38467633-38467633
44 NEB NM_001271208.2(NEB):c.7362C>G (p.Asn2454Lys) SNV Uncertain significance 374050 rs1057518861 2:152506759-152506759 2:151650245-151650245
45 DNAJB6 NM_058246.4(DNAJB6):c.179A>G (p.Lys60Arg) SNV Uncertain significance 374048 rs1057518860 7:157159199-157159199 7:157366505-157366505
46 CHAT NM_020549.4(CHAT):c.403C>T (p.Pro135Ser) SNV Uncertain significance 523530 rs1554802473 10:50827786-50827786 10:49619740-49619740
47 SMCHD1 NM_015295.3(SMCHD1):c.3891T>A (p.His1297Gln) SNV Uncertain significance 984794 18:2747609-2747609 18:2747611-2747611
48 SLC2A1 NM_006516.3(SLC2A1):c.1407G>C (p.Gln469His) SNV Uncertain significance 374095 rs201748668 1:43392784-43392784 1:42927113-42927113
49 OPA1 NM_001354663.2(OPA1):c.-260_-243del Deletion Uncertain significance 214916 rs863224140 3:193332587-193332604 3:193614798-193614815
50 RBCK1 NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys) SNV Uncertain significance 475184 rs1555785275 20:398550-398550 20:417906-417906

UniProtKB/Swiss-Prot genetic disease variations for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency:

73
# Symbol AA change Variation ID SNP ID
1 RBCK1 p.Ala18Pro VAR_071385
2 RBCK1 p.Asn387Ser VAR_071386 rs566912235

Expression for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Search GEO for disease gene expression data for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency.

Pathways for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Pathways related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency according to KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

Pathways related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.7 RYR1 CHRND

GO Terms for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Cellular components related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.9 SLC12A3 RNF31 RBCK1 GCH1 FKRP DMD
2 protein-containing complex GO:0032991 9.72 GCH1 DMD COL6A2 CAPN3 BRCA2
3 Z disc GO:0030018 9.43 RYR1 DMD CAPN3
4 neuron projection terminus GO:0044306 9.37 GCH1 DMD
5 LUBAC complex GO:0071797 8.96 RNF31 RBCK1
6 sarcolemma GO:0042383 8.92 RYR1 FKRP DMD COL6A2

Biological processes related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.5 RNF31 RBCK1 CAPN3
2 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.37 RNF31 RBCK1
3 muscle contraction GO:0006936 9.33 SCN4A RYR1 CHRND
4 muscle cell cellular homeostasis GO:0046716 9.26 DMD CAPN3
5 cellular response to calcium ion GO:0071277 9.13 SYT2 RYR1 CAPN3
6 protein linear polyubiquitination GO:0097039 8.62 RNF31 RBCK1

Molecular functions related to Polyglucosan Body Myopathy 1 with or Without Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.13 SCN4A RYR1 CHRND
2 dystroglycan binding GO:0002162 8.62 FKRP DMD

Sources for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
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20 GARD
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29 GTR
30 HMDB
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32 ICD10
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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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68 SNOMED-CT via HPO
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