MCID: MSC137
MIFTS: 19

Muscular Dystrophy, Limb-Girdle, Type 2z

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2z

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2z:

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

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy, limb-girdle, type 2z:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


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, Type 2z

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, Type 2z, is also known as lgmd2z. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2z is POGLUT1 (Protein O-Glucosyltransferase 1). Related phenotypes are respiratory insufficiency and elevated serum creatine phosphokinase

OMIM : 57 Limb-girdle muscular dystrophy type 2Z (LGMD2Z) is an autosomal recessive muscular disorder 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 LGMD2A (253600). (617232)

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2z

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2z

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory impairment (1 patient, late onset)

Muscle Soft Tissue:
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
rare centralized nuclei
more
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Laboratory Abnormalities:
increased serum creatine kinase, mild


Clinical features from OMIM:

617232

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2z:

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, Type 2z

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2z

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2z

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2z

Publications for Muscular Dystrophy, Limb-Girdle, Type 2z

Variations for Muscular Dystrophy, Limb-Girdle, Type 2z

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2z:

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

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2z:

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, Type 2z

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2z.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2z

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2z

Sources for Muscular Dystrophy, Limb-Girdle, Type 2z

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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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