MCID: PLY114
MIFTS: 19

Polyglucosan Body Myopathy 2

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

Aliases & Classifications for Polyglucosan Body Myopathy 2

MalaCards integrated aliases for Polyglucosan Body Myopathy 2:

Name: Polyglucosan Body Myopathy 2 57 75 29 6 73
Pgbm2 57 75
Myopathy, Polyglucosan Body, Type 2 40
Polyglucosan Body Myopathy Type 2 59

Characteristics:

Orphanet epidemiological data:

59
polyglucosan body myopathy type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
polyglucosan body myopathy 2:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression variable expressivity


Classifications:



External Ids:

OMIM 57 616199
Orphanet 59 ORPHA456369
ICD10 via Orphanet 34 E74.0
SNOMED-CT via HPO 69 258211005 249942005 74035001
UMLS 73 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)

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 : 75 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 10.0

Symptoms & Phenotypes for Polyglucosan Body Myopathy 2

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

616199

Human phenotypes related to Polyglucosan Body Myopathy 2:

32
# Description HPO Frequency HPO Source Accession
1 distal muscle weakness 32 occasional (7.5%) HP:0002460
2 skeletal muscle atrophy 32 HP:0003202
3 limb-girdle muscle weakness 32 HP:0003325

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:

41
Skeletal Muscle

Publications for Polyglucosan Body Myopathy 2

Articles related to Polyglucosan Body Myopathy 2:

# Title Authors Year
1
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). ( 29422440 )
2018

Variations for Polyglucosan Body Myopathy 2

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

75
# Symbol AA change Variation ID SNP ID
1 GYG1 p.Ala16Pro VAR_072706
2 GYG1 p.Asp102His VAR_072707 rs143137713

ClinVar genetic disease variations for Polyglucosan Body Myopathy 2:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 GYG1 NM_004130.3(GYG1): c.143+3G> C single nucleotide variant Pathogenic rs370652040 GRCh37 Chromosome 3, 148712067: 148712067
2 GYG1 NM_004130.3(GYG1): c.143+3G> C single nucleotide variant Pathogenic rs370652040 GRCh38 Chromosome 3, 148994280: 148994280
3 GYG1 NM_004130.3(GYG1): c.970C> T (p.Arg324Ter) single nucleotide variant Pathogenic rs727502869 GRCh37 Chromosome 3, 148744637: 148744637
4 GYG1 NM_004130.3(GYG1): c.970C> T (p.Arg324Ter) single nucleotide variant Pathogenic rs727502869 GRCh38 Chromosome 3, 149026850: 149026850
5 GYG1 NM_004130.3(GYG1): c.304G> C (p.Asp102His) single nucleotide variant Likely pathogenic rs143137713 GRCh38 Chromosome 3, 148996462: 148996462
6 GYG1 NM_004130.3(GYG1): c.304G> C (p.Asp102His) single nucleotide variant Likely pathogenic rs143137713 GRCh37 Chromosome 3, 148714249: 148714249
7 GYG1 NM_004130.3(GYG1): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs727502870 GRCh38 Chromosome 3, 149024193: 149024193
8 GYG1 NM_004130.3(GYG1): c.749G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs727502870 GRCh37 Chromosome 3, 148741980: 148741980
9 GYG1 NM_004130.3(GYG1): c.487delG (p.Asp163Thrfs) deletion Pathogenic rs727502871 GRCh37 Chromosome 3, 148727068: 148727068
10 GYG1 NM_004130.3(GYG1): c.487delG (p.Asp163Thrfs) deletion Pathogenic rs727502871 GRCh38 Chromosome 3, 149009281: 149009281
11 GYG1 NM_004130.3(GYG1): c.159A> G (p.Thr53=) single nucleotide variant Benign rs148619511 GRCh37 Chromosome 3, 148714104: 148714104
12 GYG1 NM_004130.3(GYG1): c.159A> G (p.Thr53=) single nucleotide variant Benign rs148619511 GRCh38 Chromosome 3, 148996317: 148996317
13 GYG1 NM_004130.3(GYG1): c.452A> T (p.His151Leu) single nucleotide variant Benign rs35054019 GRCh37 Chromosome 3, 148714662: 148714662
14 GYG1 NM_004130.3(GYG1): c.452A> T (p.His151Leu) single nucleotide variant Benign rs35054019 GRCh38 Chromosome 3, 148996875: 148996875
15 GYG1 NM_004130.3(GYG1): c.98G> A (p.Arg33Lys) single nucleotide variant Likely benign rs146101365 GRCh38 Chromosome 3, 148994232: 148994232
16 GYG1 NM_004130.3(GYG1): c.98G> A (p.Arg33Lys) single nucleotide variant Likely benign rs146101365 GRCh37 Chromosome 3, 148712019: 148712019
17 GYG1 NM_004130.3(GYG1): c.961C> T (p.Arg321Trp) single nucleotide variant Uncertain significance rs138596591 GRCh37 Chromosome 3, 148744628: 148744628
18 GYG1 NM_004130.3(GYG1): c.961C> T (p.Arg321Trp) single nucleotide variant Uncertain significance rs138596591 GRCh38 Chromosome 3, 149026841: 149026841

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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