MCID: CNG427
MIFTS: 22

Congenital Muscular Dystrophy with Intellectual Disability

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

Aliases & Classifications for Congenital Muscular Dystrophy with Intellectual Disability

MalaCards integrated aliases for Congenital Muscular Dystrophy with Intellectual Disability:

Name: Congenital Muscular Dystrophy with Intellectual Disability 59
Cmd with Intellectual Disability 59
Cmd-Mr 59

Classifications:



External Ids:

Orphanet 59 ORPHA370968
ICD10 via Orphanet 34 G71.2

Summaries for Congenital Muscular Dystrophy with Intellectual Disability

MalaCards based summary : Congenital Muscular Dystrophy with Intellectual Disability, also known as cmd with intellectual disability, is related to epileptic encephalopathy, early infantile, 36 and congenital disorder of glycosylation, type iu. An important gene associated with Congenital Muscular Dystrophy with Intellectual Disability is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include brain and eye.

Related Diseases for Congenital Muscular Dystrophy with Intellectual Disability

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 11.3
2 congenital disorder of glycosylation, type iu 11.3
3 muscular dystrophy, congenital, merosin-positive 11.2
4 autosomal recessive limb-girdle muscular dystrophy 10.0 FKRP POMT1
5 limb-girdle muscular dystrophy 10.0 FKRP POMT1
6 congenital muscular dystrophy without intellectual disability 9.9 FKRP POMT1
7 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 POMT1 POMT2
9 ablepharon-macrostomia syndrome 9.7 FKRP LARGE1 POMT1
10 glaucoma 3, primary congenital, a 9.7 POMT1 POMT2
11 autosomal recessive limb-girdle muscular dystrophy type 2l 9.7 FKRP POMT1 POMT2
12 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 FKRP POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 FKRP POMT1 POMT2
14 muscular dystrophy, congenital, lmna-related 9.6 FKRP POMT1 POMT2
15 congenital muscular dystrophy with cerebellar involvement 9.5 FKRP GMPPB POMT1 POMT2
16 muscular dystrophy-dystroglycanopathy 9.5 FKRP GMPPB POMT1 POMT2
17 muscular dystrophy-dystroglycanopathy , type a, 1 9.5 FKRP LARGE1 POMT1 POMT2
18 muscular dystrophy-dystroglycanopathy , type a, 4 9.5 FKRP LARGE1 POMT1 POMT2
19 muscular dystrophy-dystroglycanopathy , type b, 6 9.5 FKRP LARGE1 POMT1 POMT2
20 muscular disease 9.5 FKRP GMPPB POMT1 POMT2
21 muscular dystrophy 9.3 FKRP GMPPB LARGE1 POMT1 POMT2
22 muscle eye brain disease 9.3 FKRP GMPPB LARGE1 POMT1 POMT2
23 walker-warburg syndrome 9.3 FKRP GMPPB LARGE1 POMT1 POMT2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy with Intellectual Disability:



Diseases related to Congenital Muscular Dystrophy with Intellectual Disability

Symptoms & Phenotypes for Congenital Muscular Dystrophy with Intellectual Disability

Drugs & Therapeutics for Congenital Muscular Dystrophy with Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy with Intellectual Disability

Genetic Tests for Congenital Muscular Dystrophy with Intellectual Disability

Anatomical Context for Congenital Muscular Dystrophy with Intellectual Disability

MalaCards organs/tissues related to Congenital Muscular Dystrophy with Intellectual Disability:

41
Brain, Eye

Publications for Congenital Muscular Dystrophy with Intellectual Disability

Variations for Congenital Muscular Dystrophy with Intellectual Disability

Expression for Congenital Muscular Dystrophy with Intellectual Disability

Search GEO for disease gene expression data for Congenital Muscular Dystrophy with Intellectual Disability.

Pathways for Congenital Muscular Dystrophy with Intellectual Disability

Pathways related to Congenital Muscular Dystrophy with Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 FKRP GMPPB LARGE1 POMT1 POMT2
2
Show member pathways
13.05 GMPPB LARGE1 POMT1 POMT2
3
Show member pathways
11.39 LARGE1 POMT1 POMT2
4 10.5 POMT1 POMT2
5 10.29 FKRP LARGE1 POMT1 POMT2

GO Terms for Congenital Muscular Dystrophy with Intellectual Disability

Biological processes related to Congenital Muscular Dystrophy with Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosylation GO:0097502 9.37 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.33 LARGE1 POMT1 POMT2
3 glycoprotein biosynthetic process GO:0009101 9.32 FKRP LARGE1
4 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
5 protein glycosylation GO:0006486 9.26 FKRP LARGE1 POMT1 POMT2
6 protein O-linked mannosylation GO:0035269 8.92 FKRP LARGE1 POMT1 POMT2

Molecular functions related to Congenital Muscular Dystrophy with Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.35 FKRP GMPPB LARGE1 POMT1 POMT2
2 transferase activity, transferring glycosyl groups GO:0016757 9.33 LARGE1 POMT1 POMT2
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Congenital Muscular Dystrophy with 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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