MCID: CNG427
MIFTS: 32

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 58
Cmd with Intellectual Disability 58
Cmd-Mr 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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 muscular dystrophy, congenital, merosin-positive. An important gene associated with Congenital Muscular Dystrophy with Intellectual Disability is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. The drugs Regadenoson and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and heart, and related phenotypes are infantile muscular hypotonia and reduced muscle fiber alpha dystroglycan

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 41)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iu 12.1
2 muscular dystrophy, congenital, merosin-positive 11.3
3 congenital muscular dystrophy due to dystroglycanopathy 10.0 GMPPB FKRP
4 muscular dystrophy, congenital, 1b 9.9 GMPPB FKRP
5 autosomal recessive limb-girdle muscular dystrophy type 2w 9.8 POMT2 GMPPB
6 ullrich congenital muscular dystrophy 1 9.8 POMT2 FKRP
7 limb-girdle muscular dystrophy 9.8 POMT1 FKRP
8 rigid spine muscular dystrophy 1 9.7 POMT2 FKRP
9 congenital muscular dystrophy without intellectual disability 9.7 POMT1 FKRP
10 retinal lattice degeneration 9.6 POMT2 POMT1
11 hydrophthalmos 9.6 POMT2 POMT1
12 congenital disorder of glycosylation, type in 9.4 POMT2 POMT1
13 autosomal recessive limb-girdle muscular dystrophy 9.4 POMT2 POMT1 FKRP
14 autosomal recessive limb-girdle muscular dystrophy type 2l 9.4 POMT2 POMT1 FKRP
15 cardiomyopathy, dilated, 1d 9.4 POMT2 POMT1 FKRP
16 muscular dystrophy-dystroglycanopathy , type c, 4 9.4 POMT2 POMT1 FKRP
17 muscular dystrophy-dystroglycanopathy , type c, 5 9.4 POMT2 POMT1 FKRP
18 glaucoma 3, primary congenital, a 9.3 POMT2 POMT1 FKRP
19 congenital nervous system abnormality 9.3 POMT2 POMT1 FKRP
20 ablepharon-macrostomia syndrome 9.3 POMT1 LARGE1 FKRP
21 muscle tissue disease 9.3 POMT2 POMT1 FKRP
22 peters-plus syndrome 9.2 POMT2 POMT1
23 congenital muscular dystrophy with cerebellar involvement 9.0 POMT2 POMT1 GMPPB FKRP
24 muscular dystrophy-dystroglycanopathy , type c, 2 9.0 POMT2 POMT1 GMPPB FKRP
25 muscular dystrophy-dystroglycanopathy , type c, 3 9.0 POMT2 POMT1 GMPPB FKRP
26 muscular dystrophy-dystroglycanopathy , type c, 1 9.0 POMT2 POMT1 GMPPB FKRP
27 muscular dystrophy-dystroglycanopathy , type b, 5 9.0 POMT2 POMT1 GMPPB FKRP
28 muscular dystrophy, congenital merosin-deficient, 1a 9.0 POMT2 POMT1 GMPPB FKRP
29 bethlem myopathy 1 9.0 POMT2 POMT1 GMPPB FKRP
30 muscular dystrophy, limb-girdle, autosomal recessive 2 9.0 POMT2 POMT1 GMPPB FKRP
31 muscular dystrophy, congenital, lmna-related 9.0 POMT2 POMT1 GMPPB FKRP
32 muscular dystrophy-dystroglycanopathy , type b, 6 9.0 POMT2 POMT1 LARGE1 FKRP
33 cobblestone lissencephaly 8.9 POMT2 POMT1 LARGE1 FKRP
34 lissencephaly 8.9 POMT2 POMT1 LARGE1 FKRP
35 muscular dystrophy-dystroglycanopathy , type a, 1 8.9 POMT2 POMT1 LARGE1 FKRP
36 muscular disease 8.9 POMT2 POMT1 GMPPB FKRP
37 muscular dystrophy 8.6 POMT2 POMT1 LARGE1 GMPPB FKRP
38 muscle eye brain disease 8.6 POMT2 POMT1 LARGE1 GMPPB FKRP
39 muscular dystrophy-dystroglycanopathy , type a, 4 8.6 POMT2 POMT1 LARGE1 GMPPB FKRP
40 muscular dystrophy-dystroglycanopathy 8.6 POMT2 POMT1 LARGE1 GMPPB FKRP
41 walker-warburg syndrome 8.5 POMT2 POMT1 LARGE1 GMPPB FKRP

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
2 reduced muscle fiber alpha dystroglycan 58 31 hallmark (90%) Very frequent (99-80%) HP:0030099
3 hypoglycosylation of alpha-dystroglycan 58 31 hallmark (90%) Very frequent (99-80%) HP:0030046
4 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
7 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
8 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
9 fatigable weakness of skeletal muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030197
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
12 limb-girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003325
13 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
14 poor gross motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007015
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
17 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
18 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
21 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
22 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
23 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
24 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
25 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
26 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
27 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
28 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
29 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
30 axial muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003327
31 abnormality of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0007361
32 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
33 spinal deformities 58 31 occasional (7.5%) Occasional (29-5%) HP:0008443
34 pigmentary retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000580
35 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
36 decreased cervical spine mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0004637
37 abnormality of the tongue muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0040173
38 intellectual disability 58 Very frequent (99-80%)
39 respiratory insufficiency 58 Occasional (29-5%)
40 abnormality of the nervous system 58 Occasional (29-5%)
41 abnormality of the eye 58 Occasional (29-5%)
42 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
43 skeletal muscle hypertrophy 58 Occasional (29-5%)
44 abnormality of connective tissue 58 Occasional (29-5%)

Drugs & Therapeutics for Congenital Muscular Dystrophy with Intellectual Disability

Drugs for Congenital Muscular Dystrophy with Intellectual Disability (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Regadenoson Approved, Investigational 313348-27-5 219024
2
Adenosine Approved, Investigational 58-61-7 60961
3 Analgesics
4 Anti-Arrhythmia Agents
5 Neurotransmitter Agents
6 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Whole-Heart Myocardial Blood Flow Quantification Using Magnetic Resonance Imaging Recruiting NCT03064295 Contrast;Pharmacologic Stress Agent

Search 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:

40
Eye, Skeletal Muscle, Heart, Pons, Tongue, Kidney, Brain

Publications for Congenital Muscular Dystrophy with Intellectual Disability

Articles related to Congenital Muscular Dystrophy with Intellectual Disability:

# Title Authors PMID Year
1
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. 61
26782016 2016
2
Assessment with unenhanced MRI techniques of renal morphology and hemodynamic changes during acute kidney injury and chronic kidney disease in mice. 61
24662013 2014

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
13.31 POMT2 POMT1 LARGE1 GMPPB FKRP
2
Show member pathways
13.05 POMT2 POMT1 LARGE1 GMPPB
3
Show member pathways
11.39 POMT2 POMT1 LARGE1
4
Show member pathways
11.16 POMT2 POMT1
5 10.29 POMT2 POMT1 LARGE1 FKRP

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 POMT2 POMT1
2 protein O-linked glycosylation GO:0006493 9.33 POMT2 POMT1 LARGE1
3 glycoprotein biosynthetic process GO:0009101 9.32 LARGE1 FKRP
4 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
5 protein glycosylation GO:0006486 9.26 POMT2 POMT1 LARGE1 FKRP
6 protein O-linked mannosylation GO:0035269 8.92 POMT2 POMT1 LARGE1 FKRP

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, transferring glycosyl groups GO:0016757 9.43 POMT2 POMT1 LARGE1
2 transferase activity GO:0016740 9.35 POMT2 POMT1 LARGE1 GMPPB FKRP
3 mannosyltransferase activity GO:0000030 9.16 POMT2 POMT1
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT2 POMT1

Sources for Congenital Muscular Dystrophy with Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....