LGMDR21
MCID: MSC186
MIFTS: 20

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 (LGMDR21)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 57 72
Muscular Dystrophy, Limb-Girdle, Type 2z 57 72 29 6
Lgmd2z 57 58 72
Lgmdr21 57 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 58
Poglut1-Related Limb-Girdle Muscular Dystrophy R21 58
Muscular Dystrophy, Limb-Girdle, Type 2z; Lgmd2z 57
Limb-Girdle Muscular Dystrophy Type 2z 58
Limb-Girdle Muscular Dystrophy 2z 72
Poglut1-Related Lgmd R21 58
Lgmd Type 2z 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
patients may become wheelchair-bound
onset in early to mid-twenties
one consanguineous family has been reported (last curated december 2016)


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 21:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 617232
OMIM Phenotypic Series 57 PS253600
MeSH 44 D049288
Orphanet 58 ORPHA480682
SNOMED-CT via HPO 68 17211005 258211005 409623005

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 21: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21, also known as muscular dystrophy, limb-girdle, type 2z, is related to autosomal recessive limb-girdle muscular dystrophy type 2z. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 is POGLUT1 (Protein O-Glucosyltransferase 1). Related phenotypes are respiratory insufficiency and elevated serum creatine kinase

OMIM® : 57 Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy (summary by Servian-Morilla et al., 2016). For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600). (617232) (Updated 20-May-2021)

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2z 11.7

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21:

31
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 elevated serum creatine kinase 31 HP:0003236
3 scapular winging 31 HP:0003691
4 proximal muscle weakness in lower limbs 31 HP:0008994

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
rare centralized nuclei
muscle weakness, proximal, lower limbs (upper limb involvement occurs later)
muscle atrophy, proximal, lower limbs (upper limb involvement occurs later)
myopathic and dystrophic features seen on muscle biopsy
mild fiber size variation
more
Laboratory Abnormalities:
increased serum creatine kinase, mild

Respiratory:
respiratory impairment (1 patient, late onset)

Clinical features from OMIM®:

617232 (Updated 20-May-2021)

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2z 29 POGLUT1

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21:

# Title Authors PMID Year
1
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. 57 6
27807076 2016
2
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
3
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). 61
29034878 2017

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POGLUT1 NM_152305.3(POGLUT1):c.699T>G (p.Asp233Glu) SNV Pathogenic 372263 rs550944082 GRCh37: 3:119205740-119205740
GRCh38: 3:119486893-119486893

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21:

72
# Symbol AA change Variation ID SNP ID
1 POGLUT1 p.Asp233Glu VAR_077956 rs550944082

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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