MCID: ATS354
MIFTS: 8

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 12 15
Limb-Girdle Muscular Dystrophy 21 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080762

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has material basis in homozygous mutation in the POGLUT1 gene on chromosome 3q13.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z, also known as limb-girdle muscular dystrophy 21, is related to muscular dystrophy, limb-girdle, autosomal recessive 21. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z is DAG1 (Dystroglycan 1).

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 21 11.6

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

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

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

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z:

# Title Authors PMID Year
1
The dystroglycanopathies: the new disorders of O-linked glycosylation. 61
16584074 2005

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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