MCID: CNG428
MIFTS: 24

Congenital Muscular Dystrophy Without Intellectual Disability

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

Aliases & Classifications for Congenital Muscular Dystrophy Without Intellectual Disability

MalaCards integrated aliases for Congenital Muscular Dystrophy Without Intellectual Disability:

Name: Congenital Muscular Dystrophy Without Intellectual Disability 58
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability 58
Cmd Without Intellectual Disability 58
Cmd-No Mr 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Muscular Dystrophy Without Intellectual Disability

MalaCards based summary : Congenital Muscular Dystrophy Without Intellectual Disability, also known as congenital muscular dystrophy-dystroglycanopathy without intellectual disability, is related to congenital muscular dystrophy due to dystroglycanopathy and congenital muscular dystrophy with intellectual disability. An important gene associated with Congenital Muscular Dystrophy Without Intellectual Disability is CRPPA (CDP-L-Ribitol Pyrophosphorylase A), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include skeletal muscle, eye and brain, and related phenotypes are congenital muscular dystrophy and neonatal hypotonia

Related Diseases for Congenital Muscular Dystrophy Without Intellectual Disability

Diseases related to Congenital Muscular Dystrophy Without Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy due to dystroglycanopathy 9.8 FKRP CRPPA
2 congenital muscular dystrophy with intellectual disability 9.8 POMT1 FKRP
3 congenital muscular dystrophy with cerebellar involvement 9.8 POMT1 FKRP
4 cardiomyopathy, dilated, 1d 9.7 POMT1 FKRP
5 retinal lattice degeneration 9.6 POMT1 FKTN
6 hydrophthalmos 9.6 POMT1 FKTN
7 muscular dystrophy, congenital, 1b 9.5 FKTN FKRP
8 autosomal recessive limb-girdle muscular dystrophy type 2a 9.5 FKTN FKRP
9 muscular dystrophy, becker type 9.4 FKTN FKRP
10 ullrich congenital muscular dystrophy 1 9.4 FKTN FKRP
11 rigid spine muscular dystrophy 1 9.3 FKTN FKRP
12 muscular dystrophy-dystroglycanopathy , type c, 2 9.3 POMT1 FKTN FKRP
13 autosomal recessive limb-girdle muscular dystrophy 9.3 POMT1 FKTN FKRP
14 autosomal recessive limb-girdle muscular dystrophy type 2l 9.3 POMT1 FKTN FKRP
15 limb-girdle muscular dystrophy 9.3 POMT1 FKTN FKRP
16 ablepharon-macrostomia syndrome 9.3 POMT1 FKTN FKRP
17 muscular dystrophy-dystroglycanopathy , type b, 6 9.3 POMT1 FKTN FKRP
18 muscular dystrophy-dystroglycanopathy , type c, 4 9.3 POMT1 FKTN FKRP
19 muscular dystrophy-dystroglycanopathy , type a, 1 9.3 POMT1 FKTN FKRP
20 muscular dystrophy-dystroglycanopathy , type b, 5 9.3 POMT1 FKTN FKRP
21 muscular dystrophy, congenital merosin-deficient, 1a 9.2 POMT1 FKTN FKRP
22 cerebral degeneration 9.2 POMT1 FKTN
23 muscular dystrophy-dystroglycanopathy , type c, 5 9.2 POMT1 FKTN FKRP
24 glaucoma 3, primary congenital, a 9.2 POMT1 FKTN FKRP
25 congenital nervous system abnormality 9.2 POMT1 FKTN FKRP
26 muscle tissue disease 9.2 POMT1 FKTN FKRP
27 muscular dystrophy 8.9 POMT1 FKTN FKRP CRPPA
28 muscular dystrophy-dystroglycanopathy , type c, 3 8.9 POMT1 FKTN FKRP CRPPA
29 muscular dystrophy-dystroglycanopathy 8.9 POMT1 FKTN FKRP CRPPA
30 muscular dystrophy-dystroglycanopathy , type c, 1 8.9 POMT1 FKTN FKRP CRPPA
31 cobblestone lissencephaly 8.9 POMT1 FKTN FKRP CRPPA
32 lissencephaly 8.9 POMT1 FKTN FKRP CRPPA
33 muscle eye brain disease 8.9 POMT1 FKTN FKRP CRPPA
34 muscular dystrophy-dystroglycanopathy , type a, 4 8.9 POMT1 FKTN FKRP CRPPA
35 bethlem myopathy 1 8.9 POMT1 FKTN FKRP CRPPA
36 muscular dystrophy, limb-girdle, autosomal recessive 2 8.9 POMT1 FKTN FKRP CRPPA
37 muscular dystrophy, congenital, lmna-related 8.9 POMT1 FKTN FKRP CRPPA
38 walker-warburg syndrome 8.9 POMT1 FKTN FKRP CRPPA
39 muscular disease 8.8 POMT1 FKTN FKRP CRPPA

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Without Intellectual Disability:



Diseases related to Congenital Muscular Dystrophy Without Intellectual Disability

Symptoms & Phenotypes for Congenital Muscular Dystrophy Without Intellectual Disability

Human phenotypes related to Congenital Muscular Dystrophy Without Intellectual Disability:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003741
2 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
3 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
4 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
5 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
6 achilles tendon contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001771
7 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
8 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
9 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
10 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
11 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
12 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
13 facial diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001349
14 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
15 proximal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007126
16 reduced muscle fiber alpha dystroglycan 58 31 frequent (33%) Frequent (79-30%) HP:0030099
17 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
18 limb-girdle muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003797
19 muscle spasm 31 frequent (33%) HP:0003394
20 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
21 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
22 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
23 cerebellar cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0002350
24 ventriculomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0002119
25 pachygyria 58 31 very rare (1%) Very rare (<4-1%) HP:0001302
26 gray matter heterotopia 31 very rare (1%) HP:0002282
27 intellectual disability 58 Excluded (0%)
28 muscle cramps 58 Frequent (79-30%)
29 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
30 heterotopia 58 Very rare (<4-1%)

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy Without Intellectual Disability:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.92 CRPPA FKRP FKTN POMT1

Drugs & Therapeutics for Congenital Muscular Dystrophy Without Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy Without Intellectual Disability

Genetic Tests for Congenital Muscular Dystrophy Without Intellectual Disability

Anatomical Context for Congenital Muscular Dystrophy Without Intellectual Disability

MalaCards organs/tissues related to Congenital Muscular Dystrophy Without Intellectual Disability:

40
Skeletal Muscle, Eye, Brain

Publications for Congenital Muscular Dystrophy Without Intellectual Disability

Variations for Congenital Muscular Dystrophy Without Intellectual Disability

Expression for Congenital Muscular Dystrophy Without Intellectual Disability

Search GEO for disease gene expression data for Congenital Muscular Dystrophy Without Intellectual Disability.

Pathways for Congenital Muscular Dystrophy Without Intellectual Disability

Pathways related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 POMT1 FKTN FKRP CRPPA

GO Terms for Congenital Muscular Dystrophy Without Intellectual Disability

Biological processes related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.26 POMT1 FKTN FKRP CRPPA
2 protein O-linked glycosylation GO:0006493 9.16 POMT1 FKTN
3 protein O-linked mannosylation GO:0035269 8.92 POMT1 FKTN FKRP CRPPA

Molecular functions related to Congenital Muscular Dystrophy Without Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.92 POMT1 FKTN FKRP CRPPA

Sources for Congenital Muscular Dystrophy Without 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
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