LGMD2Z
MCID: MSC186
MIFTS: 20

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 (LGMD2Z)

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 57
Muscular Dystrophy, Limb-Girdle, Type 2z 57 75 6
Lgmd2z 57 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 59
Muscular Dystrophy, Limb-Girdle, Type 2z; Lgmd2z 57
Limb-Girdle Muscular Dystrophy 2z 75
Lgmdr21 57

Characteristics:

OMIM:

57
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:

32
muscular dystrophy, limb-girdle, autosomal recessive 21:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617232
Orphanet 59 ORPHA480682
MeSH 44 D049288
SNOMED-CT via HPO 69 258211005 409623005 17211005

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

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2Z: 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. LGMD2Z 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 elevated serum creatine phosphokinase

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)

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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 elevated serum creatine phosphokinase 32 HP:0003236
3 scapular winging 32 HP:0003691
4 proximal muscle weakness in lower limbs 32 HP:0008994

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 POGLUT1 p.Asp233Glu VAR_077956

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

3 CDC
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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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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