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MCID: PLY118
MIFTS: 45

Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Blood diseases, Rare diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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

Name: Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 57 75 29 6 73
Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency 57 75 40
Pgbm1 57 59 75
Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis 59 37
Pbmei 57 75
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:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare systemic and rhumatological diseases
Inborn errors of metabolism
Rare immunological diseases


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Summaries for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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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)

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 muscular dystrophy, limb-girdle, type 1a and myositis, 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. Affiliated tissues include skeletal muscle, bone and liver, and related phenotypes are ptosis and failure to thrive

UniProtKB/Swiss-Prot : 75 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.

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Related Diseases for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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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 148)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 1a 30.6 CAPN3 FKRP
2 myositis 30.4 CAPN3 DMD
3 bethlem myopathy 1 30.2 CAPN3 DMD
4 muscular dystrophy 29.9 CAPN3 DMD FKRP
5 myopathy 29.3 CAPN3 DMD FKRP RBCK1
6 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 12.4
7 episodic muscle weakness, x-linked 12.2
8 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 12.1
9 neuropathy, ataxia, and retinitis pigmentosa 11.7
10 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.5
11 cardiomyopathy, dilated, 1x 11.3
12 nemaline myopathy 1 11.2
13 myasthenia gravis 11.2
14 dermatomyositis 11.2
15 inclusion body myositis 11.2
16 hypokalemic periodic paralysis, type 1 11.2
17 muscular dystrophy, duchenne type 11.2
18 congenital myasthenic syndrome 11.2
19 muscular dystrophy, congenital, lmna-related 11.1
20 cap myopathy 11.1
21 nemaline myopathy 11.1
22 hypotonia 11.1
23 lambert-eaton myasthenic syndrome 11.1
24 multiple sclerosis 11.1
25 nemaline myopathy 3 11.1
26 andersen cardiodysrhythmic periodic paralysis 11.1
27 myotonic dystrophy 2 11.1
28 poliomyelitis 11.1
29 myofibrillar myopathy 11.1
30 camera-marugo-cohen syndrome 11.0
31 chronic progressive external ophthalmoplegia 11.0
32 facioscapulohumeral muscular dystrophy 1 11.0
33 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.0
34 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.0
35 spinal muscular atrophy 11.0
36 polymyositis 11.0
37 mitochondrial complex iv deficiency 11.0
38 mitochondrial myopathy 11.0
39 spinal muscular atrophy, type iii 11.0
40 rigid spine muscular dystrophy 1 11.0
41 nemaline myopathy 4 11.0
42 osteomalacia 11.0
43 necrotizing autoimmune myopathy 11.0
44 polyglucosan body myopathy 2 11.0
45 hyperkalemic periodic paralysis 10.9
46 central core disease of muscle 10.9
47 muscular dystrophy, limb-girdle, type 2a 10.9
48 amyotrophic lateral sclerosis 1 10.9
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.9
50 oculopharyngeal muscular dystrophy 10.9

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

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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

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 failure to thrive 32 HP:0001508
3 scoliosis 32 occasional (7.5%) HP:0002650
4 hepatomegaly 32 occasional (7.5%) HP:0002240
5 elevated serum creatine phosphokinase 32 HP:0003236
6 immunodeficiency 32 occasional (7.5%) HP:0002721
7 growth delay 32 HP:0001510
8 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
9 myalgia 32 HP:0003326
10 recurrent infections 32 occasional (7.5%) HP:0002719
11 eczema 32 occasional (7.5%) HP:0000964
12 lymphadenopathy 32 occasional (7.5%) HP:0002716
13 dilated cardiomyopathy 32 HP:0001644
14 proximal muscle weakness 32 HP:0003701

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


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

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

Cochrane evidence based reviews: muscle weakness

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Genetic Tests for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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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
Sources

Anatomical Context for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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

41
Skeletal Muscle, Bone, Liver, B Cells, Heart, Testes, Spinal Cord
Sources

Publications for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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

(show top 50) (show all 171)
# Title Authors Year
1
O 026 - Negative impact of muscle weakness and spasticity on gait in children with unilateral cerebral palsy. ( 29954655 )
2018
2
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [commentary]. ( 29289585 )
2018
3
McLeod syndrome is a new cause of axial muscle weakness. ( 29381810 )
2018
4
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [synopsis]. ( 29276065 )
2018
5
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
6
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. ( 29654543 )
2018
7
Proximal Muscle Weakness With Overlying Hypokalemic Periodic Paralysis in SjAPgren Syndrome: Report of 6 Cases. ( 29667944 )
2018
8
Muscle Weakness and 5-Year Survival in Acute Respiratory Distress Syndrome Survivors. ( 28067712 )
2017
9
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
10
Plantar flexor muscle weakness and fatigue in spastic cerebral palsy patients. ( 28064025 )
2017
11
Diospyros rhodocalyx (Tako-Na), a Thai folk medicine, associated with hypokalemia and generalized muscle weakness: a case series. ( 28617146 )
2017
12
A Case of a 34-Year-Old Female with Acute Hypoxemic Respiratory Failure and Proximal Muscle Weakness. ( 29410923 )
2017
13
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. ( 28043812 )
2017
14
Hypercapnic respiratory failure during pregnancy due to polymyositis-related respiratory muscle weakness: a case report. ( 28743311 )
2017
15
Illness-associated muscle weakness in dystroglycanopathies. ( 29101272 )
2017
16
Muscle Weakness in Rheumatoid Arthritis: The Role of Ca<sup>2+</sup>and Free Radical Signaling. ( 28781131 )
2017
17
A Case of Dermatomyositis with Severe Myalgia and Muscle Weakness Testing Positive for Anti-melanoma Differentiation-associated Gene 5 Antibody. ( 28824190 )
2017
18
Superoxide dismutase/catalase mimetic EUK-134 prevents diaphragm muscle weakness in monocrotalin-induced pulmonary hypertension. ( 28152009 )
2017
19
A case of generalized argyria presenting with muscle weakness. ( 29026613 )
2017
20
Case 2: Hypotonia and Muscle Weakness since Birth in a 2-year-old Boy. ( 29093122 )
2017
21
An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis. ( 28068376 )
2017
22
Selective or predominant triceps muscle weakness in African-American patients with myasthenia gravis. ( 28495049 )
2017
23
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
24
Isolated gluteal and paravertebral muscle weakness due to anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody-associated necrotizing autoimmune myopathy. ( 27060972 )
2016
25
Sporadic Inclusion Body Myositis Manifesting as Isolated Muscle Weakness of the Finger Flexors Three Years after Disease Onset. ( 27904121 )
2016
26
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. ( 27633507 )
2016
27
Idiopathic spinal cord herniation of the cervical cord: unusual cause of proximal muscle weakness in upper limbs. ( 27190115 )
2016
28
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. ( 27287710 )
2016
29
Colonic vasculopathy and perforation in the initial presentation of adult dermatomyositis in a patient with improving muscle weakness. ( 26759443 )
2016
30
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. ( 27374773 )
2016
31
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. ( 27033294 )
2016
32
Aromatase inhibitor-induced bone loss increases the progression of estrogen receptor-negative breast cancer in bone and exacerbates muscle weakness in vivo. ( 28039445 )
2016
33
The effects of muscle weakness on degenerative spondylolisthesis: A finite element study. ( 27918892 )
2016
34
Cytokine genes as potential biomarkers for muscle weakness in OPMD. ( 27506982 )
2016
35
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. ( 27974811 )
2016
36
The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study. ( 27666774 )
2016
37
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. ( 26805781 )
2016
38
Correcting myogenic ptosis accompanying extraocular muscle weakness: The &amp;quot;Bobby Pin&amp;quot; procedure. ( 27541941 )
2016
39
Hyperhomocysteinemia associated skeletal muscle weakness involves mitochondrial dysfunction and epigenetic modifications. ( 25615794 )
2015
40
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. ( 26019235 )
2015
41
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. ( 26307083 )
2015
42
Muscle Weakness and Pain With Profound Hypophosphatemia: Mystery Revealed. ( 26084535 )
2015
43
Proximal muscle weakness as a result of osteomalacia associated with celiac disease: a case report. ( 26310636 )
2015
44
[Effect of sodium pyruvate on exercise intolerance and muscle weakness due to mitochondrial myopathy: a case report]. ( 26103814 )
2015
45
Loss of Tropomodulin4 in the zebrafish mutant trAoge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. ( 25288681 )
2014
46
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. ( 25574476 )
2014
47
Severe hypophosphatemia: a rare cause of postoperative muscle weakness. ( 25439428 )
2014
48
Effect of muscle weakness distribution on balance in neuromuscular disease. ( 24978611 )
2014
49
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. ( 25381859 )
2014
50
Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy. ( 25321879 )
2014
Sources

Variations for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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

75
# Symbol AA change Variation ID SNP ID
1 RBCK1 p.Ala18Pro VAR_071385
2 RBCK1 p.Asn387Ser VAR_071386 rs566912235

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

6
(show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
3 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh37 Chromosome 9, 136218825: 136218826
4 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh38 Chromosome 9, 133351970: 133351971
5 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
6 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
7 RBCK1 NM_031229.3(RBCK1): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs727503762 GRCh38 Chromosome 20, 419439: 419439
8 RBCK1 NM_031229.3(RBCK1): c.553C> T (p.Gln185Ter) single nucleotide variant Pathogenic rs727503762 GRCh37 Chromosome 20, 400083: 400083
9 RBCK1 NM_031229.3(RBCK1): c.121_122delCT (p.Leu41Glufs) deletion Pathogenic rs727503763 GRCh37 Chromosome 20, 390623: 390624
10 RBCK1 NM_031229.3(RBCK1): c.121_122delCT (p.Leu41Glufs) deletion Pathogenic rs727503763 GRCh38 Chromosome 20, 409979: 409980
11 RBCK1 NM_031229.3(RBCK1): c.896_899delAGTG (p.Glu299Valfs) deletion Pathogenic rs727503764 GRCh37 Chromosome 20, 401654: 401657
12 RBCK1 NM_031229.3(RBCK1): c.896_899delAGTG (p.Glu299Valfs) deletion Pathogenic rs727503764 GRCh38 Chromosome 20, 421010: 421013
13 RBCK1 NM_031229.3(RBCK1): c.1160A> G (p.Asn387Ser) single nucleotide variant Pathogenic rs566912235 GRCh38 Chromosome 20, 427443: 427443
14 RBCK1 NM_031229.3(RBCK1): c.1160A> G (p.Asn387Ser) single nucleotide variant Pathogenic rs566912235 GRCh37 Chromosome 20, 408087: 408087
15 RBCK1 NM_031229.3(RBCK1): c.727G> T (p.Glu243Ter) single nucleotide variant Pathogenic rs727503765 GRCh37 Chromosome 20, 400346: 400346
16 RBCK1 NM_031229.3(RBCK1): c.727G> T (p.Glu243Ter) single nucleotide variant Pathogenic rs727503765 GRCh38 Chromosome 20, 419702: 419702
17 RBCK1 NM_031229.3(RBCK1): c.724_727dupGGCG (p.Glu243Glyfs) duplication Pathogenic rs730880329 GRCh37 Chromosome 20, 400343: 400346
18 RBCK1 NM_031229.3(RBCK1): c.724_727dupGGCG (p.Glu243Glyfs) duplication Pathogenic rs730880329 GRCh38 Chromosome 20, 419699: 419702
19 RBCK1 NM_031229.3(RBCK1): c.790C> T (p.Gln264Ter) single nucleotide variant Pathogenic rs587777561 GRCh37 Chromosome 20, 401548: 401548
20 RBCK1 NM_031229.3(RBCK1): c.790C> T (p.Gln264Ter) single nucleotide variant Pathogenic rs587777561 GRCh38 Chromosome 20, 420904: 420904
21 RBCK1 NM_031229.3(RBCK1): c.697_703dupGACGAGG (p.Glu235Glyfs) duplication Pathogenic rs730880330 GRCh37 Chromosome 20, 400316: 400322
22 RBCK1 NM_031229.3(RBCK1): c.697_703dupGACGAGG (p.Glu235Glyfs) duplication Pathogenic rs730880330 GRCh38 Chromosome 20, 419672: 419678
23 NEB NM_001271208.1(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 GRCh37 Chromosome 2, 152346522: 152346522
24 NEB NM_001271208.1(NEB): c.25472C> T (p.Thr8491Met) single nucleotide variant Conflicting interpretations of pathogenicity rs78592085 GRCh38 Chromosome 2, 151490008: 151490008
25 SLC12A3 NM_000339.2(SLC12A3): c.2221G> A (p.Gly741Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138977195 GRCh37 Chromosome 16, 56921879: 56921879
26 SLC12A3 NM_000339.2(SLC12A3): c.2221G> A (p.Gly741Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138977195 GRCh38 Chromosome 16, 56887967: 56887967
27 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
28 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
29 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 GRCh37 Chromosome 21, 47545690: 47545690
30 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 GRCh38 Chromosome 21, 46125776: 46125776
31 CAPN3 NM_000070.2(CAPN3): c.1322delG (p.Gly441Valfs) deletion Pathogenic rs886042090 GRCh37 Chromosome 15, 42691818: 42691818
32 CAPN3 NM_000070.2(CAPN3): c.1322delG (p.Gly441Valfs) deletion Pathogenic rs886042090 GRCh38 Chromosome 15, 42399620: 42399620
33 WASHC5 NM_014846.3(WASHC5): c.1345C> A (p.Arg449=) single nucleotide variant Uncertain significance rs886062653 GRCh37 Chromosome 8, 126075827: 126075827
34 WASHC5 NM_014846.3(WASHC5): c.1345C> A (p.Arg449=) single nucleotide variant Uncertain significance rs886062653 GRCh38 Chromosome 8, 125063585: 125063585
35 SURF1 NM_003172.3(SURF1): c.751+5G> A single nucleotide variant Likely pathogenic rs781934508 GRCh37 Chromosome 9, 136219296: 136219296
36 SURF1 NM_003172.3(SURF1): c.751+5G> A single nucleotide variant Likely pathogenic rs781934508 GRCh38 Chromosome 9, 133352441: 133352441
37 SYT2 NM_001136504.1(SYT2): c.1084_1089delTATGAC (p.Tyr362_Asp363del) deletion Likely pathogenic rs1057518805 GRCh37 Chromosome 1, 202566056: 202566061
38 SYT2 NM_001136504.1(SYT2): c.1084_1089delTATGAC (p.Tyr362_Asp363del) deletion Likely pathogenic rs1057518805 GRCh38 Chromosome 1, 202596928: 202596933
39 SLC2A1 NM_006516.2(SLC2A1): c.1407G> C (p.Gln469His) single nucleotide variant Uncertain significance rs201748668 GRCh37 Chromosome 1, 43392784: 43392784
40 SLC2A1 NM_006516.2(SLC2A1): c.1407G> C (p.Gln469His) single nucleotide variant Uncertain significance rs201748668 GRCh38 Chromosome 1, 42927113: 42927113
41 NEB NM_001271208.1(NEB): c.7362C> G (p.Asn2454Lys) single nucleotide variant Uncertain significance rs1057518861 GRCh37 Chromosome 2, 152506759: 152506759
42 NEB NM_001271208.1(NEB): c.7362C> G (p.Asn2454Lys) single nucleotide variant Uncertain significance rs1057518861 GRCh38 Chromosome 2, 151650245: 151650245
43 CHRND NM_000751.2(CHRND): c.822delT (p.Ser274Argfs) deletion Likely pathogenic rs1057518958 GRCh38 Chromosome 2, 232531353: 232531353
44 CHRND NM_000751.2(CHRND): c.822delT (p.Ser274Argfs) deletion Likely pathogenic rs1057518958 GRCh37 Chromosome 2, 233396063: 233396063
45 CHRND NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 GRCh38 Chromosome 2, 232535143: 232535143
46 CHRND NM_000751.2(CHRND): c.1385G> T (p.Trp462Leu) single nucleotide variant Likely pathogenic rs1057518957 GRCh37 Chromosome 2, 233399853: 233399853
47 DNAJB6 NM_058246.3(DNAJB6): c.179A> G (p.Lys60Arg) single nucleotide variant Uncertain significance rs1057518860 GRCh37 Chromosome 7, 157159199: 157159199
48 DNAJB6 NM_058246.3(DNAJB6): c.179A> G (p.Lys60Arg) single nucleotide variant Uncertain significance rs1057518860 GRCh38 Chromosome 7, 157366505: 157366505
49 DYNC1H1 NM_001376.4(DYNC1H1): c.5311G> A (p.Gly1771Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139842853 GRCh37 Chromosome 14, 102471451: 102471451
50 DYNC1H1 NM_001376.4(DYNC1H1): c.5311G> A (p.Gly1771Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139842853 GRCh38 Chromosome 14, 102005114: 102005114
Sources

Expression for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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

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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
Sources

GO Terms for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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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 Z disc GO:0030018 9.32 CAPN3 DMD
2 sarcolemma GO:0042383 9.26 DMD FKRP
3 myofibril GO:0030016 9.16 CAPN3 DMD
4 dystrophin-associated glycoprotein complex GO:0016010 8.96 DMD FKRP
5 LUBAC complex GO:0071797 8.62 RBCK1 RNF31

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 CAPN3 DMD
2 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.32 RBCK1 RNF31
3 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.26 RBCK1 RNF31
4 muscle cell cellular homeostasis GO:0046716 9.16 CAPN3 DMD
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.13 CAPN3 RBCK1 RNF31
6 protein linear polyubiquitination GO:0097039 8.62 RBCK1 RNF31

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 8.96 RBCK1 RNF31
2 structural constituent of muscle GO:0008307 8.62 CAPN3 DMD
Sources

Sources for Polyglucosan Body Myopathy 1 with or Without Immunodeficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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