PGBM1
MCID: PLY118
MIFTS: 53

Polyglucosan Body Myopathy 1 with or Without Immunodeficiency (PGBM1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Metabolic 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 74 29 6 72
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency 57 74 40
Pgbm1 57 59 74
Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis 59 37
Pbmei 57 74
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency; Pbmei 57
Polyglucosan Body Myopathy Type 1 59
Muscle Weakness 44

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
polyglucosan body myopathy 1 with or without immunodeficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

KEGG 37 H01744
ICD10 via Orphanet 34 E74.0
UMLS 72 C4014605

Summaries for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

KEGG : 37
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 bethlem myopathy 1 and muscular dystrophy, congenital, lmna-related, 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 is NOD-like receptor signaling pathway. The drugs Magnesium oxide and Dinoprostone have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are ptosis and scoliosis

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)

UniProtKB/Swiss-Prot : 74 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 951)
# Related Disease Score Top Affiliating Genes
1 bethlem myopathy 1 32.1 DMD CAPN3
2 muscular dystrophy, congenital, lmna-related 32.0 FKRP DMD
3 muscular dystrophy-dystroglycanopathy , type a, 4 31.9 FKRP DMD
4 glycogen storage disease iv 31.8 RNF31 RBCK1
5 muscular dystrophy 31.7 FKRP DMD CAPN3
6 myositis 31.7 DMD CAPN3
7 muscular dystrophy, limb-girdle, autosomal recessive 8 31.4 FKRP CAPN3
8 incontinentia pigmenti 31.3 RNF31 RBCK1
9 limb-girdle muscular dystrophy 31.3 FKRP DMD CAPN3
10 muscular dystrophy, limb-girdle, autosomal recessive 2 31.2 FKRP CAPN3
11 muscular dystrophy-dystroglycanopathy , type c, 5 31.2 FKRP CAPN3
12 muscular dystrophy, congenital, 1b 31.1 FKRP DMD
13 isolated hyperckemia 30.8 FKRP DMD CAPN3
14 muscular dystrophy, limb-girdle, autosomal recessive 7 30.8 FKRP DMD CAPN3
15 walker-warburg syndrome 30.6 FKRP DMD
16 miyoshi muscular dystrophy 29.9 DMD CAPN3
17 paresthesia 29.6 FKRP CAPN3
18 atrial standstill 1 29.5 FKRP DMD
19 muscular disease 28.8 FKRP DMD CAPN3
20 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 12.7
21 episodic muscle weakness, x-linked 12.6
22 obsolete: other muscle weakness and/or chronic muscle pain 12.4
23 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 12.4
24 neuropathy, ataxia, and retinitis pigmentosa 12.3
25 cardiomyopathy, dilated, 1x 11.9
26 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.8
27 spinal muscular atrophy 11.7
28 myasthenia gravis 11.6
29 myofibrillar myopathy 11.6
30 guillain-barre syndrome 11.6
31 nemaline myopathy 11.6
32 central core disease of muscle 11.6
33 hyperkalemic periodic paralysis 11.6
34 hypokalemic periodic paralysis, type 1 11.6
35 glycogen storage disease ii 11.6
36 dermatomyositis 11.5
37 muscular dystrophy, duchenne type 11.5
38 congenital fiber-type disproportion 11.5
39 inclusion body myositis 11.5
40 ullrich congenital muscular dystrophy 1 11.5
41 facioscapulohumeral muscular dystrophy 1 11.5
42 spinal muscular atrophy, type iii 11.5
43 congenital myasthenic syndrome 11.5
44 miyoshi muscular dystrophy 1 11.5
45 lambert-eaton myasthenic syndrome 11.4
46 chronic progressive external ophthalmoplegia 11.4
47 muscular dystrophy, becker type 11.4
48 myotonia congenita 11.4
49 myopathy, myofibrillar, 9, with early respiratory failure 11.4
50 centronuclear myopathy 11.4

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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 scoliosis 32 occasional (7.5%) HP:0002650
3 hepatomegaly 32 occasional (7.5%) HP:0002240
4 immunodeficiency 32 occasional (7.5%) HP:0002721
5 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910
6 recurrent infections 32 occasional (7.5%) HP:0002719
7 eczema 32 occasional (7.5%) HP:0000964
8 lymphadenopathy 32 occasional (7.5%) HP:0002716
9 failure to thrive 32 HP:0001508
10 myalgia 32 HP:0003326
11 growth delay 32 HP:0001510
12 dilated cardiomyopathy 32 HP:0001644
13 proximal muscle weakness 32 HP:0003701
14 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
poor growth

Cardiovascular Heart:
dilated cardiomyopathy
amylopectinosis seen on biopsy
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)

Muscle Soft Tissue:
myalgia
proximal muscle weakness
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

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


myalgia

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 405)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium oxide Approved Phase 4 1309-48-4 14792
2
Dinoprostone Approved Phase 4 363-24-6 5280360
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Fosinopril Approved Phase 4 98048-97-6 55891
5
Chloroprocaine Approved Phase 4 133-16-4 8612
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
8
Azathioprine Approved Phase 4 446-86-6 2265
9
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
10
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Succinylcholine Approved Phase 4 306-40-1 5314
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
14
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
15
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
16
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
17
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
18
Clonidine Approved Phase 4 4205-90-7 2803
19
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
20
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
21
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
22
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
23
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
24
Atorvastatin Approved Phase 4 134523-00-5 60823
25
Isoleucine Approved, Investigational, Nutraceutical Phase 4 443-79-8, 73-32-5 6306
26
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
28
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
29
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
30
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
31 Epoetin alfa Phase 4 113427-24-0
32 3-Iodobenzylguanidine Phase 4
33 Immunoglobulins, Intravenous Phase 4
34 gamma-Globulins Phase 4
35 Rho(D) Immune Globulin Phase 4
36 BB 1101 Phase 4
37 Antimetabolites, Antineoplastic Phase 4
38 Respiratory System Agents Phase 4
39 Adrenergic beta-Agonists Phase 4
40 Anti-Asthmatic Agents Phase 4
41 Clofibric Acid Phase 4 882-09-7
42 Sympathomimetics Phase 4
43 Mydriatics Phase 4
44 Vasoconstrictor Agents Phase 4
45 Neuromuscular Depolarizing Agents Phase 4
46 Anticonvulsants Phase 4
47 Cholinesterase Inhibitors Phase 4
48 Autonomic Agents Phase 4
49 leucine Phase 4
50 Tocolytic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 970)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness. Unknown status NCT01904396 Phase 4 Carnitine
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 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
4 Magnesium Deficiency in Cirrhotic Patients Unknown status NCT01894867 Phase 4
5 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
6 Effectiveness of Inspiratory Muscle Training Associated With a Cardiac Rehabilitation Program in Sympathetic Activity and Functional Capacity in Patients With Heart Failure: a Randomized Clinical Trial Unknown status NCT02600000 Phase 4
7 Inspiratory Muscle Training for Dyspneic Patients With COPD-HF Overlap: a Multicenter, Randomized Controlled Trial Unknown status NCT02579200 Phase 4
8 Acceleromyographic Assessment of Neuromuscular Blockade: TOF-Watch-SX Versus TOFscan Unknown status NCT02433769 Phase 4
9 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
10 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
11 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
12 ACE-inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease Completed NCT01014338 Phase 4 Fosinopril
13 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
14 Small Dose of Sugammadex Improves Muscle Function After Standard Neuromuscular Recovery (TOF 0.9) Completed NCT01101139 Phase 4 Sugammadex;Placebo
15 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
16 A Randomized Trial of Plasma Exchange vs. IVIG in the Treatment of Myasthenia Gravis Completed NCT01179893 Phase 4
17 Neostigmine Reversal And Neuromuscular Recovery Completed NCT02433808 Phase 4 Neostigmine Group
18 A Prospective Analysis of Preoperative Fascia Iliaca Block for Hip Arthroscopy Completed NCT02623361 Phase 4 Peripheral Nerve Block;Sham Block
19 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
20 Analgesia After Total Shoulder Arthroplasty Completed NCT01782872 Phase 4
21 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
22 Incidence and Severity of Residual Neuromuscular Blockade With Application of a Protocol for Paralysis and Neostigmine Reversal of Rocuronium Completed NCT02660398 Phase 4
23 Fast-track Rehabilitation Protocol for Total Knee Arthroplasty: A Randomized Controlled Trial Comparing Local Infiltration Analgesia With Femoral Nerve Block Completed NCT01966263 Phase 4
24 Skilling-up Exercise for Elderly in Need of Care Completed NCT02102919 Phase 4
25 Does Opioid Induced Swallowing Difficulty Lead to Elevated Risk for Pulmonary Aspiration? Completed NCT01495377 Phase 4 Remifentanil;Placebo;Technetium
26 Neuromuscular Electroestimulation and Respiratory Muscle Training in the Management of Dysphagia of Subacute Stroke Patients Completed NCT02473432 Phase 4
27 Adductor Canal Block and Functional Recovery After Total Knee Arthroplasty. A Double-Blind, Randomized Controlled Trial Completed NCT02411149 Phase 4 Adductor Canal Block;Adductor Canal Block with Morphine;Local Infiltration
28 Clonidine and the Skeletal Myopathy of Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
29 Postoperative Analgesia Comparing Subsartorial Saphenous Nerve Block With and Without Dexamethasone in ACL Reconstruction Completed NCT01586806 Phase 4 Bupivacaine Only;Bupivacaine with 1 mg of Dexamethasone;Bupivacaine with 4 mg of Dexamethasone
30 The Effect of Dexamethasone on Sugammadex Reversal in Pediatric Patients Undergoing Adenotonsillectomy: a Randomized, Placebo-controlled Study Completed NCT02137395 Phase 4 Dexamethasone;Placebo
31 Adductor Canal Block: Single Injection vs Catheter for Pain Management of Total Knee Arthroplasty - A Randomized, Unblinded, Non-Inferiority Trial Completed NCT02798835 Phase 4 Adductor canal block;Adductor canal block with dexamethasone;Adductor canal catheter;Bupivacaine;Fentanyl;Ropivacaine 0.5% Injectable Solution;Dexamethasone
32 Optimizing Local Anesthetic Concentration for Continuous Popliteal-Sciatic Nerve Blocks Completed NCT01898689 Phase 4 perineural infusion
33 A Prospective, Randomized, Double-Blind Clinical Trial Evaluating the Speed of Recovery and Safety of Reversal of Neuromuscular Blockade With Sugammadex (Bridion™) Versus Neostigmine in Geriatric Patients Undergoing Spine Surgery Completed NCT03112993 Phase 4 sugammadex;Neostigmine
34 Does Magnesium Sulfate as a Supplement in Adductor Canal Blocks Improve Pain Control After Total Knee Arthroplasty? Completed NCT02581683 Phase 4 Magnesium Sulfate;Ropivacaine
35 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
36 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
37 Effect of Pyridostigmine (Mestinon) on Muscle Strength in Myasthenia Gravis Recruiting NCT03510546 Phase 4 Pyridostigmine;Placebo oral capsule
38 Electromyographic Monitoring and Postoperative Recovery Recruiting NCT03891381 Phase 4
39 Impact of Statin Therapy on Adaptations to Aerobic Exercise Recruiting NCT03360916 Phase 4 Lipitor 20Mg Tablet;Lipitor 80Mg Tablet;Placebo
40 High Dose Epidural Fentanyl for Second Stage Labor Analgesia Recruiting NCT03120780 Phase 4 Fentanyl 20 mcg;Fentanyl 100 mcg
41 A Prospective Randomized Trial Comparing the Effects of 2 Vitamin D Supplementation Regimens in Elderly People After Hip Fracture Surgery Recruiting NCT03213886 Phase 4 Calcifediol (Vitamin D)
42 Trial of Statin Holiday in Patients Receiving Maintenance Dialysis Recruiting NCT03663049 Phase 4 discontinue statin
43 The Effect of Local Analgesia on Postoperative Gluteal Pain in Patients Undergoing Sacrospinous Ligament Fixation: A Randomized Trial Recruiting NCT03995641 Phase 4 marcaine and kenalog
44 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
45 Does Saline Injection Around Phrenic Nerve Reduce Incidence of Diaphragmatic Paresis Following Interscalene Block? Recruiting NCT02893228 Phase 4 Levobupivacaine
46 Interaction Between Intravenous Magnesium Sulphate and Neostigmine or Sugammadex for the Reversal of a Rocuronium-induced Neuromuscular Block - A Randomized, Double Blinded, Electrophysiological Study Recruiting NCT03497923 Phase 4 Magnesium Sulfate
47 Treatment of Sarcopenia Improves the Muscle Mass and Muscle Strength of Patients With Liver Cirrhosis- Child C: A Randomized Double Blind Control Trial Recruiting NCT03633279 Phase 4 Branched chain amino acid;Placebo
48 Clinical Outcome Following Arthroscopic Knee Surgery (COFAKS)-Addendum Active, not recruiting NCT03704376 Phase 4 30 ml of 0.2% ropivacaine;15 ml of 0.2% ropivacaine;100 mcg clonidine
49 Role of Sugammadex as Reversal Agent in Patients Extubated Immediately After Isolated Coronary Artery Bypass Grafting Surgery Active, not recruiting NCT03939923 Phase 4 Rocuronium;Neostigmine;Glycopyrrolate;Sugammadex
50 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

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Guanidine

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:

41
Lung, Heart, Testes, Bone, Skeletal Muscle, Brain, Breast

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. 8 71
23798481 2013
2
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. 8 71
23889995 2013
3
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. 8 71
23104095 2012
4
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. 8 71
18691923 2008
5
[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family]. 8
7971833 1994
6
Photosensitive benign myoclonic epilepsy in infancy. 38
17241214 2007

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 89)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RBCK1 NM_031229.4(RBCK1): c.1112G> T (p.Cys371Phe) single nucleotide variant Pathogenic rs1555787599 20:408039-408039 20:427395-427395
2 FKRP NM_024301.5(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 19:47259533-47259533 19:46756276-46756276
3 SURF1 NM_003172.4(SURF1): c.841_842CT[2] (p.Ser282fs) short repeat Pathogenic rs782316919 9:136218825-136218826 9:133351970-133351971
4 CAPN3 ; SGCB NM_000070.3(CAPN3): c.550del (p.Thr184fs) deletion Pathogenic rs80338800 15:42680002-42680002 15:42387804-42387804
5 BRCA2 NM_000059.3(BRCA2): c.4936_4939del (p.Glu1646fs) deletion Pathogenic rs80359473 13:32913428-32913431 13:32339291-32339294
6 RBCK1 NM_031229.4(RBCK1): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs727503762 20:400083-400083 20:419439-419439
7 RBCK1 NM_031229.4(RBCK1): c.121_122del (p.Leu41fs) deletion Pathogenic rs727503763 20:390623-390624 20:409979-409980
8 RBCK1 NM_031229.4(RBCK1): c.896_899del (p.Glu299fs) deletion Pathogenic rs727503764 20:401654-401657 20:421010-421013
9 RBCK1 NM_031229.4(RBCK1): c.1160A> G (p.Asn387Ser) single nucleotide variant Pathogenic rs566912235 20:408087-408087 20:427443-427443
10 RBCK1 NM_031229.4(RBCK1): c.727G> T (p.Glu243Ter) single nucleotide variant Pathogenic rs727503765 20:400346-400346 20:419702-419702
11 RBCK1 NM_031229.4(RBCK1): c.720_723GGCG[3] (p.Glu243fs) short repeat Pathogenic rs730880329 20:400343-400346 20:419699-419702
12 RBCK1 NM_031229.4(RBCK1): c.790C> T (p.Gln264Ter) single nucleotide variant Pathogenic rs587777561 20:401548-401548 20:420904-420904
13 RBCK1 NM_031229.4(RBCK1): c.697_703dup (p.Glu235fs) duplication Pathogenic rs730880330 20:400316-400322 20:419672-419678
14 DMD NM_004006.2(DMD): c.1637G> A (p.Trp546Ter) single nucleotide variant Pathogenic rs1057518962 X:32591929-32591929 X:32573812-32573812
15 RBCK1 NM_031229.4(RBCK1): c.1054C> T (p.Arg352Ter) single nucleotide variant Pathogenic 20:407981-407981 20:427337-427337
16 RBCK1 NM_031229.4(RBCK1): c.325C> T (p.Arg109Ter) single nucleotide variant Pathogenic 20:398439-398439 20:417795-417795
17 CAPN3 NM_000070.3(CAPN3): c.1322del (p.Gly441fs) deletion Pathogenic rs1555421871 15:42691818-42691818 15:42399620-42399620
18 RBCK1 NM_031229.4(RBCK1): c.582+1G> C single nucleotide variant Pathogenic 20:400113-400113 20:419469-419469
19 BICD2 NM_001003800.2(BICD2): c.1636_1638del (p.Asn546del) deletion Likely pathogenic rs1064795760 9:95481289-95481291 9:92719007-92719009
20 ACOX1 NM_004035.7(ACOX1): c.1729-1G> A single nucleotide variant Likely pathogenic 17:73944539-73944539 17:75948458-75948458
21 RYR1 NM_000540.2(RYR1): c.11178_11193+7del deletion Likely pathogenic 19:39023166-39023188 19:38532526-38532548
22 GCH1 NM_000161.3(GCH1): c.655C> T (p.Gln219Ter) single nucleotide variant Likely pathogenic rs1555358382 14:55310833-55310833 14:54844115-54844115
23 CAPN3 NM_000070.3(CAPN3): c.632+5G> A single nucleotide variant Likely pathogenic rs1555420508 15:42680089-42680089 15:42387891-42387891
24 SURF1 NM_003172.4(SURF1): c.751+5G> A single nucleotide variant Likely pathogenic rs781934508 9:136219296-136219296 9:133352441-133352441
25 SYT2 NM_177402.5(SYT2): c.1084_1089del (p.Tyr362_Asp363del) deletion Likely pathogenic rs1057518805 1:202566056-202566061 1:202596928-202596933
26 CHRND NM_000751.3(CHRND): c.822del (p.Ser274fs) deletion Likely pathogenic rs1057518958 2:233396063-233396063 2:232531353-232531353
27 CHRND NM_000751.3(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 2:233399853-233399853 2:232535143-232535143
28 DYNC1H1 NM_001376.5(DYNC1H1): c.5311G> A (p.Gly1771Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139842853 14:102471451-102471451 14:102005114-102005114
29 SCN4A NM_000334.4(SCN4A): c.1333G> T (p.Val445Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908552 17:62041947-62041947 17:63964587-63964587
30 NEB NM_001271208.2(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 2:152346522-152346522 2:151490008-151490008
31 SLC12A3 NM_000339.3(SLC12A3): c.2221G> A (p.Gly741Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138977195 16:56921879-56921879 16:56887967-56887967
32 OPA1 NM_015560.2(OPA1): c.113_130del (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 3:193332592-193332609 3:193614803-193614820
33 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 21:47545690-47545690 21:46125776-46125776
34 RYR1 NM_000540.2(RYR1): c.3202T> C (p.Cys1068Arg) single nucleotide variant Uncertain significance rs1057518768 19:38958273-38958273 19:38467633-38467633
35 DNAJB6 NM_058246.4(DNAJB6): c.179A> G (p.Lys60Arg) single nucleotide variant Uncertain significance rs1057518860 7:157159199-157159199 7:157366505-157366505
36 SLC2A1 NM_006516.3(SLC2A1): c.1407G> C (p.Gln469His) single nucleotide variant Uncertain significance rs201748668 1:43392784-43392784 1:42927113-42927113
37 NEB NM_001271208.2(NEB): c.7362C> G (p.Asn2454Lys) single nucleotide variant Uncertain significance rs1057518861 2:152506759-152506759 2:151650245-151650245
38 FLNC NM_001458.4(FLNC): c.1325C> G (p.Pro442Arg) single nucleotide variant Uncertain significance rs1554397822 7:128478771-128478771 7:128838717-128838717
39 RBCK1 NM_031229.4(RBCK1): c.1040C> G (p.Pro347Arg) single nucleotide variant Uncertain significance rs370963132 20:407967-407967 20:427323-427323
40 RBCK1 NM_031229.4(RBCK1): c.436G> A (p.Glu146Lys) single nucleotide variant Uncertain significance rs1555785275 20:398550-398550 20:417906-417906
41 DYSF NM_003494.4(DYSF): c.2390T> A (p.Met797Lys) single nucleotide variant Uncertain significance rs1553550862 2:71791222-71791222 2:71564092-71564092
42 CHAT NM_020549.4(CHAT): c.403C> T (p.Pro135Ser) single nucleotide variant Uncertain significance rs1554802473 10:50827786-50827786 10:49619740-49619740
43 SLC12A3 NM_000339.3(SLC12A3): c.457G> A (p.Val153Met) single nucleotide variant Uncertain significance rs779074538 16:56902236-56902236 16:56868324-56868324
44 RBCK1 NM_031229.4(RBCK1): c.203C> T (p.Thr68Ile) single nucleotide variant Uncertain significance rs753472058 20:398205-398205 20:417561-417561
45 RBCK1 NM_031229.4(RBCK1): c.1029G> A (p.Ala343=) single nucleotide variant Uncertain significance rs201470953 20:402882-402882 20:422238-422238
46 CACNA1A NM_001127221.1(CACNA1A): c.6128C> T (p.Thr2043Met) single nucleotide variant Uncertain significance rs563345694 19:13323262-13323262 19:13212448-13212448
47 RBCK1 NM_031229.4(RBCK1): c.1090C> T (p.Arg364Cys) single nucleotide variant Uncertain significance rs144018482 20:408017-408017 20:427373-427373
48 RBCK1 NM_031229.3(RBCK1): c.261+6_261+9delTGAG deletion Uncertain significance rs754865819 20:398269-398272 20:417625-417628
49 RBCK1 NM_031229.4(RBCK1): c.1346A> G (p.Gln449Arg) single nucleotide variant Uncertain significance 20:409632-409632 20:428988-428988
50 RBCK1 NM_031229.4(RBCK1): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance 20:409676-409676 20:429032-429032

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

74
# 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:

37
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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 9.73 RNF31 RBCK1 FKRP DMD CAPN3 BRCA2
2 sarcolemma GO:0042383 9.37 FKRP DMD
3 secretory granule GO:0030141 9.32 DMD BRCA2
4 myofibril GO:0030016 9.16 DMD CAPN3
5 dystrophin-associated glycoprotein complex GO:0016010 8.65 DMD
6 LUBAC complex GO:0071797 8.62 RNF31 RBCK1

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 muscle organ development GO:0007517 9.37 DMD CAPN3
2 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.32 RNF31 RBCK1
3 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.26 RNF31 RBCK1
4 muscle cell cellular homeostasis GO:0046716 9.16 DMD CAPN3
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.13 RNF31 RBCK1 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 ubiquitin binding GO:0043130 9.16 RNF31 RBCK1
2 structural constituent of muscle GO:0008307 8.96 DMD CAPN3
3 dystroglycan binding GO:0002162 8.62 FKRP DMD

Sources for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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