MCID: CNG426
MIFTS: 20

Congenital Muscular Dystrophy with Cerebellar Involvement

Categories: Neuronal diseases, Metabolic diseases, Rare diseases, Muscle 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 59
Cmd with Cerebellar Involvement 59
Cmd-Crb 59

Classifications:



External Ids:

Orphanet 59 ORPHA370959
ICD10 via Orphanet 34 G71.2

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 congenital muscular dystrophy without intellectual disability and muscular dystrophy-dystroglycanopathy , type c, 4. An important gene associated with Congenital Muscular Dystrophy with Cerebellar Involvement is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of proteins.

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 congenital muscular dystrophy without intellectual disability 10.0 FKRP POMT1
2 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 FKRP POMT2
3 autosomal recessive limb-girdle muscular dystrophy 9.7 FKRP POMT1
4 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 FKRP POMT1 POMT2
5 muscular dystrophy, limb-girdle, type 2l 9.6 FKRP POMT1 POMT2
6 congenital nervous system abnormality 9.4 POMGNT1 POMT1
7 ablepharon-macrostomia syndrome 9.4 FKRP POMGNT1 POMT1
8 muscular dystrophy, limb-girdle, type 1e 9.3 FKRP GMPPB
9 muscular dystrophy, congenital, lmna-related 9.3 FKRP POMGNT1 POMT1
10 muscular dystrophy-dystroglycanopathy , type c, 3 9.3 GMPPB POMGNT1
11 limb-girdle muscular dystrophy 9.3 FKRP POMGNT1 POMT1
12 muscular dystrophy-dystroglycanopathy , type c, 1 9.3 GMPPB POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type c, 2 9.2 GMPPB POMT1 POMT2
14 muscular dystrophy-dystroglycanopathy , type b, 6 8.9 FKRP POMGNT1 POMT1 POMT2
15 muscular dystrophy-dystroglycanopathy , type a, 4 8.9 FKRP POMGNT1 POMT1 POMT2
16 muscular dystrophy-dystroglycanopathy , type b, 5 8.9 FKRP POMGNT1 POMT1 POMT2
17 congenital muscular dystrophy with intellectual disability 8.7 FKRP GMPPB POMT1 POMT2
18 muscular dystrophy-dystroglycanopathy 8.0 FKRP GMPPB POMGNT1 POMT1 POMT2
19 muscle eye brain disease 7.4 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
20 walker-warburg syndrome 7.4 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
21 muscular dystrophy 7.3 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

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
13.37 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 9.37 POMT1 POMT2
3 ER-associated misfolded protein catabolic process GO:0071712 9.32 POMT1 POMT2
4 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
5 protein O-linked mannosylation GO:0035269 9.13 FKRP POMT1 POMT2
6 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 9.43 POMGNT1 POMT1 POMT2
2 mannosyltransferase activity GO:0000030 9.16 POMT1 POMT2
3 transferase activity GO:0016740 9.1 FKRP GMPPB POMGNT1 POMK POMT1 POMT2
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT1 POMT2

Sources for Congenital Muscular Dystrophy with Cerebellar Involvement

3 CDC
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10 dbSNP
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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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