MCID: CNG427
MIFTS: 30

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:

ICD10 via Orphanet 34 G71.2
Orphanet 59 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 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 skeletal muscle, heart and tongue, and related phenotypes are infantile muscular hypotonia and hypoglycosylation of 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 23)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iu 11.5
2 dpm2-cdg 11.5
3 muscular dystrophy, congenital, merosin-positive 11.3
4 autosomal recessive limb-girdle muscular dystrophy 9.8 POMT1 FKRP
5 limb-girdle muscular dystrophy 9.8 POMT1 FKRP
6 congenital muscular dystrophy without intellectual disability 9.6 POMT1 FKRP
7 muscular dystrophy-dystroglycanopathy , type c, 2 9.5 POMT2 POMT1
8 muscular dystrophy-dystroglycanopathy , type c, 1 9.4 POMT2 POMT1
9 autosomal recessive limb-girdle muscular dystrophy type 2l 9.3 POMT2 POMT1 FKRP
10 muscular dystrophy-dystroglycanopathy , type c, 4 9.2 POMT2 POMT1 FKRP
11 glaucoma 3, primary congenital, a 9.2 POMT2 POMT1
12 muscular dystrophy-dystroglycanopathy , type b, 5 9.2 POMT2 POMT1 FKRP
13 muscular dystrophy, congenital, lmna-related 9.1 POMT2 POMT1 FKRP
14 ablepharon-macrostomia syndrome 9.1 POMT1 LARGE1 FKRP
15 congenital muscular dystrophy with cerebellar involvement 8.9 POMT2 POMT1 GMPPB FKRP
16 muscular dystrophy-dystroglycanopathy 8.8 POMT2 POMT1 GMPPB FKRP
17 muscular dystrophy-dystroglycanopathy , type a, 1 8.8 POMT2 POMT1 LARGE1 FKRP
18 muscular disease 8.7 POMT2 POMT1 GMPPB FKRP
19 muscular dystrophy-dystroglycanopathy , type b, 6 8.7 POMT2 POMT1 LARGE1 FKRP
20 muscular dystrophy-dystroglycanopathy , type a, 4 8.7 POMT2 POMT1 LARGE1 FKRP
21 muscular dystrophy 8.3 POMT2 POMT1 LARGE1 GMPPB FKRP
22 muscle eye brain disease 8.3 POMT2 POMT1 LARGE1 GMPPB FKRP
23 walker-warburg syndrome 8.3 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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 infantile muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008947
2 hypoglycosylation of alpha-dystroglycan 59 32 hallmark (90%) Very frequent (99-80%) HP:0030046
3 reduced muscle fiber alpha dystroglycan 59 32 hallmark (90%) Very frequent (99-80%) HP:0030099
4 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
7 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
8 fatigable weakness of skeletal muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030197
9 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
10 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
11 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
12 limb-girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003325
13 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
14 poor gross motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007015
15 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
16 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
17 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
18 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
19 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
20 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
21 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
22 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
23 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
24 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
25 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
26 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
27 axial muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003327
28 abnormality of the pons 59 32 occasional (7.5%) Occasional (29-5%) HP:0007361
29 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
30 cerebellar vermis hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001320
31 abnormality of the periventricular white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002518
32 spinal deformities 59 32 occasional (7.5%) Occasional (29-5%) HP:0008443
33 poor speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002465
34 pigmentary retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000580
35 loss of ability to walk 59 32 occasional (7.5%) Occasional (29-5%) HP:0006957
36 decreased cervical spine mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0004637
37 abnormality of the tongue muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0040173
38 intellectual disability 59 Very frequent (99-80%)
39 respiratory insufficiency 59 Occasional (29-5%)
40 abnormality of the eye 59 Occasional (29-5%)
41 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
42 abnormality of the nervous system 59 Occasional (29-5%)
43 skeletal muscle hypertrophy 59 Occasional (29-5%)
44 abnormality of connective tissue 59 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 8)
# 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 Neurotransmitter Agents
4 Analgesics
5 Purinergic P1 Receptor Agonists
6 Anti-Arrhythmia Agents
7 Vasodilator Agents
8 Peripheral Nervous System 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:

41
Skeletal Muscle, Heart, Tongue, Eye, Pons, Kidney

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. 38
26782016 2016
2
Assessment with unenhanced MRI techniques of renal morphology and hemodynamic changes during acute kidney injury and chronic kidney disease in mice. 38
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
13.3 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 10.5 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 GO:0016740 9.35 POMT2 POMT1 LARGE1 GMPPB FKRP
2 transferase activity, transferring glycosyl groups GO:0016757 9.33 POMT2 POMT1 LARGE1
3 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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