MCID: CNG428
MIFTS: 30

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 59
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability 59
Cmd Without Intellectual Disability 59
Cmd-No Mr 59

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 congenital muscular dystrophy with intellectual disability. An important gene associated with Congenital Muscular Dystrophy Without Intellectual Disability is ISPD (Isoprenoid Synthase Domain Containing), and among its related pathways/superpathways are Metabolism and Mannose type O-glycan biosynthesis. Affiliated tissues include skeletal muscle, brain and eye, and related phenotypes are microcephaly 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
2 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
3 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
4 achilles tendon contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001771
5 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
6 ventriculomegaly 59 32 very rare (1%) Very rare (<4-1%) HP:0002119
7 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
8 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
9 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
10 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
11 mildly elevated creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0008180
12 pachygyria 59 32 very rare (1%) Very rare (<4-1%) HP:0001302
13 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
14 congenital muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003741
15 facial diplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001349
16 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
17 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
18 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
19 proximal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007126
20 heterotopia 59 32 very rare (1%) Very rare (<4-1%) HP:0002282
21 abnormality of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002500
22 fatty replacement of skeletal muscle 59 32 frequent (33%) Frequent (79-30%) HP:0012548
23 cerebellar cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0002350
24 limb-girdle muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003797
25 reduced muscle fiber alpha dystroglycan 59 32 frequent (33%) Frequent (79-30%) HP:0030099
26 intellectual disability 59 Excluded (0%)
27 emg: myopathic abnormalities 59 Frequent (79-30%)
28 emg 32 frequent (33%) HP:0003458

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.13 FKRP FKTN POMT1
2 nervous system MP:0003631 8.92 FKRP FKTN ISPD 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:

41
Skeletal Muscle, Brain, Eye

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
Show member pathways
12.89 FKRP FKTN ISPD POMT1
2 10.29 FKRP FKTN ISPD 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 glycosylation GO:0006486 9.26 FKRP FKTN ISPD POMT1
2 protein O-linked glycosylation GO:0006493 9.16 FKTN POMT1
3 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN ISPD POMT1

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 FKRP FKTN ISPD POMT1

Sources for Congenital Muscular Dystrophy Without Intellectual Disability

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7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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