PGBM2
MCID: PLY114
MIFTS: 25

Polyglucosan Body Myopathy 2 (PGBM2)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polyglucosan Body Myopathy 2

MalaCards integrated aliases for Polyglucosan Body Myopathy 2:

Name: Polyglucosan Body Myopathy 2 57 72 29 6 70
Pgbm2 57 72
Myopathy, Polyglucosan Body, Type 2 39
Polyglucosan Body Myopathy Type 2 58

Characteristics:

Orphanet epidemiological data:

58
polyglucosan body myopathy type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM®:

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

Miscellaneous:
variable severity
slowly progressive
variable age at onset (range childhood to mid-sixties)


HPO:

31
polyglucosan body myopathy 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 616199
OMIM Phenotypic Series 57 PS615895
ICD10 via Orphanet 33 E74.0
Orphanet 58 ORPHA456369
UMLS 70 C4015452

Summaries for Polyglucosan Body Myopathy 2

OMIM® : 57 Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014). For a discussion of genetic heterogeneity of PGBM, see PGBM1 (615895). (616199) (Updated 05-Apr-2021)

MalaCards based summary : Polyglucosan Body Myopathy 2, also known as pgbm2, is related to myopathy. An important gene associated with Polyglucosan Body Myopathy 2 is GYG1 (Glycogenin 1). Affiliated tissues include skeletal muscle, and related phenotypes are distal muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : 72 Polyglucosan body myopathy 2: A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase.

Related Diseases for Polyglucosan Body Myopathy 2

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

# Related Disease Score Top Affiliating Genes
1 myopathy 10.1

Symptoms & Phenotypes for Polyglucosan Body Myopathy 2

Human phenotypes related to Polyglucosan Body Myopathy 2:

31
# Description HPO Frequency HPO Source Accession
1 distal muscle weakness 31 occasional (7.5%) HP:0002460
2 skeletal muscle atrophy 31 HP:0003202
3 difficulty walking 31 HP:0002355
4 limb-girdle muscle weakness 31 HP:0003325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle atrophy
difficulty walking and climbing stairs
myopathic pattern seen on emg
muscle weakness, limb-girdle (lower and upper limbs may be affected)
muscle weakness, distal (in some patients)
more

Clinical features from OMIM®:

616199 (Updated 05-Apr-2021)

Drugs & Therapeutics for Polyglucosan Body Myopathy 2

Search Clinical Trials , NIH Clinical Center for Polyglucosan Body Myopathy 2

Genetic Tests for Polyglucosan Body Myopathy 2

Genetic tests related to Polyglucosan Body Myopathy 2:

# Genetic test Affiliating Genes
1 Polyglucosan Body Myopathy 2 29 GYG1

Anatomical Context for Polyglucosan Body Myopathy 2

MalaCards organs/tissues related to Polyglucosan Body Myopathy 2:

40
Skeletal Muscle

Publications for Polyglucosan Body Myopathy 2

Articles related to Polyglucosan Body Myopathy 2:

# Title Authors PMID Year
1
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 57 6
25272951 2014
2
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. 6
29143313 2018
3
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. 6
29264399 2017
4
Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. 6
28453664 2017
5
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 6
27718144 2017
6
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. 6
26652229 2016
7
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 6
20357282 2010
8
[Polyglycosan body myopathy]. 57
17106730 2006
9
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy. 61
32477874 2020
10
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). 61
29422440 2018

Variations for Polyglucosan Body Myopathy 2

ClinVar genetic disease variations for Polyglucosan Body Myopathy 2:

6 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GYG1 NM_004130.3(GYG1):c.970C>T (p.Arg324Ter) SNV Pathogenic 162662 rs727502869 GRCh37: 3:148744637-148744637
GRCh38: 3:149026850-149026850
2 GYG1 NM_001184721.1(GYG1):c.609-2567G>A SNV Pathogenic 162664 rs727502870 GRCh37: 3:148741980-148741980
GRCh38: 3:149024193-149024193
3 GYG1 NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) SNV Pathogenic 569450 rs1559834349 GRCh37: 3:148714099-148714099
GRCh38: 3:148996312-148996312
4 GYG1 NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter) SNV Pathogenic 850059 GRCh37: 3:148742050-148742050
GRCh38: 3:149024263-149024263
5 GYG1 NM_004130.4(GYG1):c.631del (p.Val211fs) Deletion Pathogenic 855451 GRCh37: 3:148741862-148741862
GRCh38: 3:149024075-149024075
6 GYG1 NM_004130.3(GYG1):c.143+3G>C SNV Pathogenic 162661 rs370652040 GRCh37: 3:148712067-148712067
GRCh38: 3:148994280-148994280
7 GYG1 NM_004130.3(GYG1):c.304G>C (p.Asp102His) SNV Pathogenic 162663 rs143137713 GRCh37: 3:148714249-148714249
GRCh38: 3:148996462-148996462
8 GYG1 NM_004130.3(GYG1):c.487del (p.Asp163fs) Deletion Pathogenic 162665 rs727502871 GRCh37: 3:148727065-148727065
GRCh38: 3:149009278-149009278
9 GYG1 NM_004130.4(GYG1):c.*23CA[3] Microsatellite Pathogenic 1033637 GRCh37: 3:148744741-148744742
GRCh38: 3:149026954-149026955
10 GYG1 NM_004130.3(GYG1):c.143+3G>C SNV Pathogenic 162661 rs370652040 GRCh37: 3:148712067-148712067
GRCh38: 3:148994280-148994280
11 GYG1 NM_004130.3(GYG1):c.304G>C (p.Asp102His) SNV Pathogenic/Likely pathogenic 162663 rs143137713 GRCh37: 3:148714249-148714249
GRCh38: 3:148996462-148996462
12 GYG1 NM_004130.4(GYG1):c.7+1G>A SNV Likely pathogenic 666973 rs949456055 GRCh37: 3:148709435-148709435
GRCh38: 3:148991648-148991648
13 GYG1 NM_004130.4(GYG1):c.955G>C (p.Glu319Gln) SNV Uncertain significance 931060 GRCh37: 3:148744622-148744622
GRCh38: 3:149026835-149026835
14 GYG1 NM_004130.3(GYG1):c.961C>T (p.Arg321Trp) SNV Uncertain significance 542120 rs138596591 GRCh37: 3:148744628-148744628
GRCh38: 3:149026841-149026841
15 GYG1 NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) SNV Uncertain significance 969811 GRCh37: 3:148711989-148711989
GRCh38: 3:148994202-148994202
16 GYG1 NM_004130.3(GYG1):c.662A>C (p.Asn221Thr) SNV Uncertain significance 642738 rs1412348949 GRCh37: 3:148741893-148741893
GRCh38: 3:149024106-149024106
17 GYG1 NM_004130.3(GYG1):c.883G>A (p.Asp295Asn) SNV Uncertain significance 649105 rs202085215 GRCh37: 3:148744550-148744550
GRCh38: 3:149026763-149026763
18 GYG1 NM_004130.3(GYG1):c.439A>G (p.Asn147Asp) SNV Uncertain significance 646200 rs140175164 GRCh37: 3:148714649-148714649
GRCh38: 3:148996862-148996862
19 GYG1 NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala) SNV Uncertain significance 954247 GRCh37: 3:148744706-148744706
GRCh38: 3:149026919-149026919
20 GYG1 NM_001184721.1(GYG1):c.609-2498A>T SNV Uncertain significance 577858 rs1211466583 GRCh37: 3:148742049-148742049
GRCh38: 3:149024262-149024262
21 GYG1 NM_004130.4(GYG1):c.66G>A (p.Leu22=) SNV Uncertain significance 935412 GRCh37: 3:148711987-148711987
GRCh38: 3:148994200-148994200
22 GYG1 NM_004130.3(GYG1):c.866G>T (p.Gly289Val) SNV Uncertain significance 548588 rs1553733613 GRCh37: 3:148744276-148744276
GRCh38: 3:149026489-149026489
23 GYG1 NM_004130.4(GYG1):c.872G>T (p.Cys291Phe) SNV Uncertain significance 1039050 GRCh37: 3:148744282-148744282
GRCh38: 3:149026495-149026495
24 GYG1 NM_004130.4(GYG1):c.206C>G (p.Ser69Cys) SNV Uncertain significance 1045088 GRCh37: 3:148714151-148714151
GRCh38: 3:148996364-148996364
25 GYG1 NM_004130.3(GYG1):c.98G>A (p.Arg33Lys) SNV Likely benign 542121 rs146101365 GRCh37: 3:148712019-148712019
GRCh38: 3:148994232-148994232
26 GYG1 NM_004130.3(GYG1):c.159A>G (p.Thr53=) SNV Benign 380453 rs148619511 GRCh37: 3:148714104-148714104
GRCh38: 3:148996317-148996317
27 GYG1 NM_004130.3(GYG1):c.452A>T (p.His151Leu) SNV Benign 516905 rs35054019 GRCh37: 3:148714662-148714662
GRCh38: 3:148996875-148996875
28 GYG1 NM_004130.3(GYG1):c.137C>G (p.Ser46Cys) SNV Benign 383918 rs142784073 GRCh37: 3:148712058-148712058
GRCh38: 3:148994271-148994271
29 GYG1 NM_004130.3(GYG1):c.609G>A (p.Val203=) SNV Benign 385794 rs75445811 GRCh37: 3:148741840-148741840
GRCh38: 3:149024053-149024053

UniProtKB/Swiss-Prot genetic disease variations for Polyglucosan Body Myopathy 2:

72
# Symbol AA change Variation ID SNP ID
1 GYG1 p.Ala16Pro VAR_072706 rs200947378
2 GYG1 p.Asp102His VAR_072707 rs143137713

Expression for Polyglucosan Body Myopathy 2

Search GEO for disease gene expression data for Polyglucosan Body Myopathy 2.

Pathways for Polyglucosan Body Myopathy 2

GO Terms for Polyglucosan Body Myopathy 2

Sources for Polyglucosan Body Myopathy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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