MCID: CNG426
MIFTS: 21

Congenital Muscular Dystrophy with Cerebellar Involvement

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

Aliases & Classifications for Congenital Muscular Dystrophy with Cerebellar Involvement

MalaCards integrated aliases for Congenital Muscular Dystrophy with Cerebellar Involvement:

Name: Congenital Muscular Dystrophy with Cerebellar Involvement 60
Cmd with Cerebellar Involvement 60
Cmd-Crb 60

Classifications:



External Ids:

ICD10 via Orphanet 35 G71.2
Orphanet 60 ORPHA370959

Summaries for Congenital Muscular Dystrophy with Cerebellar Involvement

MalaCards based summary : Congenital Muscular Dystrophy with Cerebellar Involvement, also known as cmd with cerebellar involvement, is related to autosomal recessive limb-girdle muscular dystrophy and congenital muscular dystrophy without intellectual disability. An important gene associated with Congenital Muscular Dystrophy with Cerebellar Involvement is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Related phenotype is nervous system.

Related Diseases for Congenital Muscular Dystrophy with Cerebellar Involvement

Diseases related to Congenital Muscular Dystrophy with Cerebellar Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy 9.8 FKRP POMT1
2 congenital muscular dystrophy without intellectual disability 9.7 FKRP POMT1
3 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 POMT1 POMT2
5 glaucoma 3, primary congenital, a 9.6 POMT1 POMT2
6 congenital nervous system abnormality 9.5 POMGNT1 POMT1
7 limb-girdle muscular dystrophy 9.5 FKRP POMGNT1 POMT1
8 ablepharon-macrostomia syndrome 9.5 FKRP POMGNT1 POMT1
9 autosomal recessive limb-girdle muscular dystrophy type 2l 9.4 FKRP POMT1 POMT2
10 muscular dystrophy-dystroglycanopathy , type c, 4 9.4 FKRP POMT1 POMT2
11 congenital muscular dystrophy with intellectual disability 9.3 FKRP GMPPB POMT1 POMT2
12 muscular dystrophy-dystroglycanopathy , type a, 1 9.2 FKRP POMGNT1 POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type a, 4 9.2 FKRP POMGNT1 POMT1 POMT2
14 muscular dystrophy-dystroglycanopathy , type b, 6 9.2 FKRP POMGNT1 POMT1 POMT2
15 muscular dystrophy-dystroglycanopathy , type b, 5 9.2 FKRP POMGNT1 POMT1 POMT2
16 muscular dystrophy, congenital, lmna-related 9.2 FKRP POMGNT1 POMT1 POMT2
17 muscular dystrophy-dystroglycanopathy 9.0 FKRP GMPPB POMGNT1 POMT1 POMT2
18 muscular disease 8.9 FKRP GMPPB POMGNT1 POMT1 POMT2
19 muscular dystrophy 8.7 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
20 muscle eye brain disease 8.7 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
21 walker-warburg syndrome 8.7 FKRP GMPPB POMGNT1 POMK POMT1 POMT2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy with Cerebellar Involvement:



Diseases related to Congenital Muscular Dystrophy with Cerebellar Involvement

Symptoms & Phenotypes for Congenital Muscular Dystrophy with Cerebellar Involvement

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy with Cerebellar Involvement:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 FKRP POMGNT1 POMK POMT1 POMT2

Drugs & Therapeutics for Congenital Muscular Dystrophy with Cerebellar Involvement

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy with Cerebellar Involvement

Genetic Tests for Congenital Muscular Dystrophy with Cerebellar Involvement

Anatomical Context for Congenital Muscular Dystrophy with Cerebellar Involvement

Publications for Congenital Muscular Dystrophy with Cerebellar Involvement

Variations for Congenital Muscular Dystrophy with Cerebellar Involvement

Expression for Congenital Muscular Dystrophy with Cerebellar Involvement

Search GEO for disease gene expression data for Congenital Muscular Dystrophy with Cerebellar Involvement.

Pathways for Congenital Muscular Dystrophy with Cerebellar Involvement

Pathways related to Congenital Muscular Dystrophy with Cerebellar Involvement according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
2
Show member pathways
13.15 GMPPB POMGNT1 POMK POMT1 POMT2
3
Show member pathways
11.52 POMGNT1 POMK POMT1 POMT2
4 10.5 POMT1 POMT2
5 10.38 FKRP POMGNT1 POMK POMT1 POMT2

GO Terms for Congenital Muscular Dystrophy with Cerebellar Involvement

Cellular components related to Congenital Muscular Dystrophy with Cerebellar Involvement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.92 FKRP POMK POMT1 POMT2

Biological processes related to Congenital Muscular Dystrophy with Cerebellar Involvement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.46 FKRP POMGNT1 POMT1 POMT2
2 mannosylation GO:0097502 9.32 POMT1 POMT2
3 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 9.13 FKRP POMT1 POMT2
5 protein O-linked glycosylation GO:0006493 8.92 POMGNT1 POMK POMT1 POMT2

Molecular functions related to Congenital Muscular Dystrophy with Cerebellar Involvement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.33 POMGNT1 POMT1 POMT2
2 transferase activity GO:0016740 9.1 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT1 POMT2

Sources for Congenital Muscular Dystrophy with Cerebellar Involvement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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