MCID: CNG428
MIFTS: 19

Congenital Muscular Dystrophy Without Intellectual Disability

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

Aliases & Classifications for Congenital Muscular Dystrophy Without Intellectual Disability

MalaCards integrated aliases for Congenital Muscular Dystrophy Without Intellectual Disability:

Name: Congenital Muscular Dystrophy Without Intellectual Disability 59
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability 59
Cmd Without Intellectual Disability 59
Cmd-No Mr 59

Classifications:



External Ids:

Orphanet 59 ORPHA370980
ICD10 via Orphanet 34 G71.2

Summaries for Congenital Muscular Dystrophy Without Intellectual Disability

MalaCards based summary : Congenital Muscular Dystrophy Without Intellectual Disability, also known as congenital muscular dystrophy-dystroglycanopathy without intellectual disability, is related to congenital muscular dystrophy with intellectual disability and congenital muscular dystrophy with cerebellar involvement. An important gene associated with Congenital Muscular Dystrophy Without Intellectual Disability is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism and Mannose type O-glycan biosynthesis. Related phenotype is muscle.

Related Diseases for Congenital Muscular Dystrophy Without Intellectual Disability

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Without Intellectual Disability:



Diseases related to Congenital Muscular Dystrophy Without Intellectual Disability

Symptoms & Phenotypes for Congenital Muscular Dystrophy Without Intellectual Disability

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy Without Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 FKRP FKTN POMT1

Drugs & Therapeutics for Congenital Muscular Dystrophy Without Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy Without Intellectual Disability

Genetic Tests for Congenital Muscular Dystrophy Without Intellectual Disability

Anatomical Context for Congenital Muscular Dystrophy Without Intellectual Disability

Publications for Congenital Muscular Dystrophy Without Intellectual Disability

Variations for Congenital Muscular Dystrophy Without Intellectual Disability

Expression for Congenital Muscular Dystrophy Without Intellectual Disability

Search GEO for disease gene expression data for Congenital Muscular Dystrophy Without Intellectual Disability.

Pathways for Congenital Muscular Dystrophy Without Intellectual Disability

Pathways related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 FKRP FKTN ISPD POMT1
2 10.29 FKRP FKTN ISPD POMT1

GO Terms for Congenital Muscular Dystrophy Without Intellectual Disability

Cellular components related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.8 FKRP FKTN POMT1

Biological processes related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.26 FKRP FKTN ISPD POMT1
2 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN ISPD POMT1

Molecular functions related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.92 FKRP FKTN ISPD POMT1

Sources for Congenital Muscular Dystrophy Without Intellectual Disability

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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