MCID: CNG428
MIFTS: 27

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 60
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability 60
Cmd Without Intellectual Disability 60
Cmd-No Mr 60

Classifications:



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 autosomal recessive limb-girdle muscular dystrophy and muscular dystrophy-dystroglycanopathy. 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, and related phenotypes are congenital muscular dystrophy and neonatal hypotonia

Related Diseases for Congenital Muscular Dystrophy Without Intellectual Disability

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003741
2 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
3 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
4 achilles tendon contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001771
5 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
6 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
7 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
8 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
9 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
10 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
11 facial diplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001349
12 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
13 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
14 proximal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007126
15 abnormality of the cerebral white matter 60 33 frequent (33%) Frequent (79-30%) HP:0002500
16 fatty replacement of skeletal muscle 60 33 frequent (33%) Frequent (79-30%) HP:0012548
17 limb-girdle muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003797
18 reduced muscle fiber alpha dystroglycan 60 33 frequent (33%) Frequent (79-30%) HP:0030099
19 muscle spasm 33 frequent (33%) HP:0003394
20 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
21 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
22 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
23 cerebellar cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0002350
24 ventriculomegaly 60 33 very rare (1%) Very rare (<4-1%) HP:0002119
25 pachygyria 60 33 very rare (1%) Very rare (<4-1%) HP:0001302
26 heterotopia 60 33 very rare (1%) Very rare (<4-1%) HP:0002282
27 intellectual disability 60 Excluded (0%)
28 muscle cramps 60 Frequent (79-30%)
29 mildly elevated creatine phosphokinase 60 Frequent (79-30%)

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 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:

42
Skeletal Muscle

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 10.16 FKRP FKTN POMT1

GO Terms for Congenital Muscular Dystrophy Without Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.8 FKRP FKTN POMT1

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 O-linked glycosylation GO:0006493 9.16 FKTN POMT1
2 protein glycosylation GO:0006486 9.13 FKRP FKTN POMT1
3 protein O-linked mannosylation GO:0035269 8.8 FKRP FKTN POMT1

Sources for Congenital Muscular Dystrophy Without 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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