LGMDR21
MCID: MSC186
MIFTS: 19

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 58 76
Muscular Dystrophy, Limb-Girdle, Type 2z 58 76 6
Lgmd2z 58 60 76
Lgmdr21 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 60
Muscular Dystrophy, Limb-Girdle, Type 2z; Lgmd2z 58
Limb-Girdle Muscular Dystrophy 2z 76

Characteristics:

OMIM:

58
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:

33
muscular dystrophy, limb-girdle, autosomal recessive 21:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 617232
MeSH 45 D049288
Orphanet 60 ORPHA480682
SNOMED-CT via HPO 70 17211005 258211005 409623005

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

UniProtKB/Swiss-Prot : 76 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, is also known as muscular dystrophy, limb-girdle, 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 scapular winging

OMIM : 58 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)

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
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

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

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

33
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 scapular winging 33 HP:0003691
3 proximal muscle weakness in lower limbs 33 HP:0008994
4 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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

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 Year
1
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. ( 27807076 )
2016

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

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

76
# Symbol AA change Variation ID SNP ID
1 POGLUT1 p.Asp233Glu VAR_077956 rs550944082

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POGLUT1 NM_152305.2(POGLUT1): c.699T> G (p.Asp233Glu) single nucleotide variant Pathogenic rs550944082 GRCh38 Chromosome 3, 119486893: 119486893
2 POGLUT1 NM_152305.2(POGLUT1): c.699T> G (p.Asp233Glu) single nucleotide variant Pathogenic rs550944082 GRCh37 Chromosome 3, 119205740: 119205740

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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