MCID: QLT016
MIFTS: 8

Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Protein Involved in...

MalaCards integrated aliases for Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan:

Name: Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan 58
Secondary Alpha-Dystroglycanopathy 58
Secondary Dystroglycanopathy 58

Classifications:



External Ids:

Orphanet 58 ORPHA207113

Summaries for Qualitative or Quantitative Defects of Protein Involved in...

MalaCards based summary : Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan, also known as secondary alpha-dystroglycanopathy, is related to muscular dystrophy and congenital muscular dystrophy due to dystroglycanopathy. Affiliated tissues include skeletal muscle.

Related Diseases for Qualitative or Quantitative Defects of Protein Involved in...

Diseases related to Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 10.0
2 congenital muscular dystrophy due to dystroglycanopathy 10.0
3 qualitative or quantitative defects of alpha-dystroglycan 10.0

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Protein Involved in...

Drugs & Therapeutics for Qualitative or Quantitative Defects of Protein Involved in...

Search Clinical Trials , NIH Clinical Center for Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan

Genetic Tests for Qualitative or Quantitative Defects of Protein Involved in...

Anatomical Context for Qualitative or Quantitative Defects of Protein Involved in...

MalaCards organs/tissues related to Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan:

40
Skeletal Muscle

Publications for Qualitative or Quantitative Defects of Protein Involved in...

Articles related to Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan:

# Title Authors PMID Year
1
NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy. 61
31391079 2019
2
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. 61
27807076 2016
3
Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. 61
26751696 2016
4
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. 61
26900448 2016
5
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 61
24556084 2014
6
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. 61
22922256 2012

Variations for Qualitative or Quantitative Defects of Protein Involved in...

Expression for Qualitative or Quantitative Defects of Protein Involved in...

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan.

Pathways for Qualitative or Quantitative Defects of Protein Involved in...

GO Terms for Qualitative or Quantitative Defects of Protein Involved in...

Sources for Qualitative or Quantitative Defects of Protein Involved in...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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