MCID: CNG427
MIFTS: 28

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 60
Cmd with Intellectual Disability 60
Cmd-Mr 60

Classifications:



External Ids:

ICD10 via Orphanet 35 G71.2
Orphanet 60 ORPHA370968

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 congenital disorder of glycosylation, type iu and dpm2-cdg. 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 eye, skeletal muscle and tongue, and related phenotypes are intellectual disability and respiratory insufficiency

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 congenital disorder of glycosylation, type iu 11.4
2 dpm2-cdg 11.4
3 muscular dystrophy, congenital, merosin-positive 11.2
4 autosomal recessive limb-girdle muscular dystrophy 9.9 FKRP POMT1
5 limb-girdle muscular dystrophy 9.9 FKRP POMT1
6 congenital muscular dystrophy without intellectual disability 9.8 FKRP POMT1
7 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 POMT1 POMT2
9 ablepharon-macrostomia syndrome 9.6 FKRP LARGE1 POMT1
10 glaucoma 3, primary congenital, a 9.5 POMT1 POMT2
11 autosomal recessive limb-girdle muscular dystrophy type 2l 9.5 FKRP POMT1 POMT2
12 muscular dystrophy-dystroglycanopathy , type c, 4 9.4 FKRP POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type b, 5 9.4 FKRP POMT1 POMT2
14 muscular dystrophy, congenital, lmna-related 9.4 FKRP POMT1 POMT2
15 congenital muscular dystrophy with cerebellar involvement 9.2 FKRP GMPPB POMT1 POMT2
16 muscular dystrophy-dystroglycanopathy 9.2 FKRP GMPPB POMT1 POMT2
17 muscular dystrophy-dystroglycanopathy , type a, 1 9.2 FKRP LARGE1 POMT1 POMT2
18 muscular dystrophy-dystroglycanopathy , type a, 4 9.2 FKRP LARGE1 POMT1 POMT2
19 muscular dystrophy-dystroglycanopathy , type b, 6 9.2 FKRP LARGE1 POMT1 POMT2
20 muscular disease 9.2 FKRP GMPPB POMT1 POMT2
21 muscular dystrophy 8.9 FKRP GMPPB LARGE1 POMT1 POMT2
22 muscle eye brain disease 8.9 FKRP GMPPB LARGE1 POMT1 POMT2
23 walker-warburg syndrome 8.9 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

Human phenotypes related to Congenital Muscular Dystrophy with Intellectual Disability:

60 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 Very frequent (99-80%)
2 respiratory insufficiency 60 Occasional (29-5%)
3 scoliosis 60 Occasional (29-5%)
4 facial palsy 60 Occasional (29-5%)
5 global developmental delay 60 Frequent (79-30%)
6 microcephaly 60 Frequent (79-30%)
7 abnormality of the eye 60 Occasional (29-5%)
8 intellectual disability, severe 60 Occasional (29-5%)
9 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
10 feeding difficulties 60 Frequent (79-30%)
11 strabismus 60 Occasional (29-5%)
12 cryptorchidism 60 Occasional (29-5%)
13 myopia 60 Occasional (29-5%)
14 reduced tendon reflexes 60 Occasional (29-5%)
15 ventriculomegaly 60 Occasional (29-5%)
16 cerebral cortical atrophy 60 Frequent (79-30%)
17 motor delay 60 Frequent (79-30%)
18 multiple joint contractures 60 Frequent (79-30%)
19 hip dislocation 60 Occasional (29-5%)
20 cerebellar hypoplasia 60 Occasional (29-5%)
21 respiratory failure 60 Occasional (29-5%)
22 abnormality of the nervous system 60 Occasional (29-5%)
23 skeletal muscle hypertrophy 60 Occasional (29-5%)
24 axial muscle weakness 60 Occasional (29-5%)
25 micropenis 60 Occasional (29-5%)
26 limb-girdle muscle weakness 60 Frequent (79-30%)
27 abnormality of the pons 60 Occasional (29-5%)
28 hypoplasia of the corpus callosum 60 Occasional (29-5%)
29 calf muscle hypertrophy 60 Frequent (79-30%)
30 cerebellar vermis hypoplasia 60 Occasional (29-5%)
31 abnormality of the periventricular white matter 60 Occasional (29-5%)
32 spinal deformities 60 Occasional (29-5%)
33 pigmentary retinopathy 60 Occasional (29-5%)
34 poor speech 60 Occasional (29-5%)
35 loss of ability to walk 60 Occasional (29-5%)
36 infantile muscular hypotonia 60 Very frequent (99-80%)
37 abnormality of connective tissue 60 Occasional (29-5%)
38 hypoglycosylation of alpha-dystroglycan 60 Very frequent (99-80%)
39 reduced muscle fiber alpha dystroglycan 60 Very frequent (99-80%)
40 poor gross motor coordination 60 Frequent (79-30%)
41 fatigable weakness of skeletal muscles 60 Frequent (79-30%)
42 decreased cervical spine mobility 60 Occasional (29-5%)
43 abnormality of the tongue muscle 60 Occasional (29-5%)

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:

42
Eye, Skeletal Muscle, Tongue, Pons, Brain

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
13.3 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 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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