MCID: MSC004
MIFTS: 21

Muscle Tissue Disease

Categories: Muscle diseases

Aliases & Classifications for Muscle Tissue Disease

MalaCards integrated aliases for Muscle Tissue Disease:

Name: Muscle Tissue Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:66

Summaries for Muscle Tissue Disease

MalaCards based summary : Muscle Tissue Disease is related to distal arthrogryposis and rippling muscle disease 1. An important gene associated with Muscle Tissue Disease is CRYAA (Crystallin Alpha A). Affiliated tissues include skeletal muscle, and related phenotype is muscle.

Related Diseases for Muscle Tissue Disease

Diseases related to Muscle Tissue Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 32.1 SMN1 SERPINA3 RYR1 H2AC18
2 rippling muscle disease 1 10.9
3 rippling muscle disease 2 10.9
4 myostatin-related muscle hypertrophy 10.9
5 myotonia congenita 10.9
6 malignant hyperthermia 10.9
7 bacterial infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
8 autoimmune disease of cardiovascular system 10.6 SERPINA3 ICOSLG H2AC18 CCR6
9 salivary gland disease 10.6 SERPINA3 RNU4ATAC ICOSLG H2AC18 CCR6
10 herpangina 10.6 RNU4ATAC ICOSLG H2AC18 CCR6
11 cerebral degeneration 10.6 SERPINA3 H2AC18 EPRS1 CRYAA CCR6 B3GNT2
12 hair disease 10.6 SERPINA3 RNU4ATAC ICOSLG H2AC18 CCR6
13 mast cell neoplasm 10.6 U2AF1 SERPINA3 ICOSLG H2AC18
14 autoimmune disease of skin and connective tissue 10.6 SERPINA3 ICOSLG H2AC18 CCR6
15 hypersensitivity reaction type iv disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
16 congenital muscular dystrophy-dystroglycanopathy type a 10.6 RNU4ATAC DMD DAG1 B3GNT2
17 commensal bacterial infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
18 parasitic helminthiasis infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
19 chromosomal duplication syndrome 10.6 U2AF1 SERPINA3 MIR9-1 H2AC18 EPRS1 CRYAA
20 cranial nerve disease 10.6 SERPINA3 ICOSLG CRYAA CCR6
21 acute cystitis 10.6 SERPINA3 H2AC18 EPRS1 CCR6
22 malignant ovarian surface epithelial-stromal neoplasm 10.6 SERPINA3 MIR9-1 ICOSLG H2AC18 CCR6
23 localized lipodystrophy 10.6 DYSF DMD
24 extrinsic cardiomyopathy 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
25 amino acid metabolic disorder 10.6 SERPINA3 H2AC18 EPRS1 CRYAA
26 ovary epithelial cancer 10.6 U2AF1 SERPINA3 MIR9-1 ICOSLG H2AC18 CCR6
27 muscular dystrophy-dystroglycanopathy 10.6 DYSF DMD DAG1 B3GNT2
28 physical disorder 10.6 RNU4ATAC MIR9-1 H2AC18 EPRS1 CRYAA B3GNT2
29 cardiomyopathy, dilated, 3b 10.6 UTRN DYSF DMD DAG1
30 autoimmune disease of eyes, ear, nose and throat 10.6 ICOSLG CRYAA CCR6
31 corneal disease 10.6 SERPINA3 H2AC18 CRYAA CCR6
32 bacterial pneumonia 10.6 SERPINA3 ICOSLG H2AC18 CCR6
33 autoimmune disease of urogenital tract 10.6 ICOSLG H2AC18 CCR6
34 muscular dystrophy-dystroglycanopathy , type a, 4 10.6 RNU4ATAC DMD DAG1 B3GNT2
35 progressive relapsing multiple sclerosis 10.6 SERPINA3 H2AC18 CCR6
36 autoimmune disease of gastrointestinal tract 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
37 chediak-higashi syndrome 10.6 SERPINA3 ICOSLG H2AC18 CCR6
38 klebsiella pneumonia 10.6 ICOSLG H2AC18 CCR6
39 intrinsic cardiomyopathy 10.6 SERPINA3 MIR142 ICOSLG H2AC18 DMD
40 cytoplasmic body myopathy 10.6 UTRN DMD
41 blood platelet disease 10.6 U2AF1 SERPINA3 ICOSLG H2AC18 CCR6
42 autoimmune disease of endocrine system 10.6 MIR142 ICOSLG H2AC18 CCR6
43 autosomal recessive limb-girdle muscular dystrophy type 2d 10.6 UTRN DYSF DMD DAG1
44 spinal cord disease 10.6 MIR142 ICOSLG H2AC18 CCR6
45 bronchial disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
46 muscular dystrophy, congenital merosin-deficient, 1a 10.6 UTRN DYSF DMD DAG1
47 primary bacterial infectious disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
48 blood coagulation disease 10.6 U2AF1 SERPINA3 ICOSLG H2AC18 CCR6
49 thyroid gland disease 10.6 SERPINA3 MIR9-1 MIR142 ICOSLG H2AC18 CCR6
50 autosomal recessive limb-girdle muscular dystrophy type 2c 10.6 DYSF DMD DAG1

Graphical network of the top 20 diseases related to Muscle Tissue Disease:



Diseases related to Muscle Tissue Disease

Symptoms & Phenotypes for Muscle Tissue Disease

MGI Mouse Phenotypes related to Muscle Tissue Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 DAG1 DMD DYSF FBXO32 MSTN RYR1

Drugs & Therapeutics for Muscle Tissue Disease

Search Clinical Trials , NIH Clinical Center for Muscle Tissue Disease

Genetic Tests for Muscle Tissue Disease

Anatomical Context for Muscle Tissue Disease

MalaCards organs/tissues related to Muscle Tissue Disease:

40
Skeletal Muscle

Publications for Muscle Tissue Disease

Articles related to Muscle Tissue Disease:

# Title Authors PMID Year
1
Simultaneous muscle water T2 and fat fraction mapping using transverse relaxometry with stimulated echo compensation. 61
26814454 2016
2
Validation of a generic approach to muscle water T2 determination at 3T in fat-infiltrated skeletal muscle. 61
24590466 2015
3
Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy. 61
21196119 2011

Variations for Muscle Tissue Disease

Expression for Muscle Tissue Disease

Search GEO for disease gene expression data for Muscle Tissue Disease.

Pathways for Muscle Tissue Disease

GO Terms for Muscle Tissue Disease

Cellular components related to Muscle Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic ribonucleoprotein granule GO:0036464 9.61 SMN2 SMN1 ICOSLG
2 filopodium GO:0030175 9.54 UTRN DMD DAG1
3 Cajal body GO:0015030 9.5 U2AF1 SMN2 SMN1
4 Gemini of coiled bodies GO:0097504 9.46 SMN2 SMN1
5 SMN complex GO:0032797 9.4 SMN2 SMN1
6 Z disc GO:0030018 9.35 SMN2 SMN1 RYR1 FBXO32 DMD
7 dystrophin-associated glycoprotein complex GO:0016010 9.33 UTRN DMD DAG1
8 contractile ring GO:0070938 9.26 UTRN DAG1
9 sarcolemma GO:0042383 9.02 UTRN RYR1 DYSF DMD DAG1

Biological processes related to Muscle Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.5 UTRN MSTN DMD
2 positive regulation of cell-matrix adhesion GO:0001954 9.33 UTRN DMD DAG1
3 DNA-templated transcription, termination GO:0006353 9.26 SMN2 SMN1
4 skeletal muscle tissue regeneration GO:0043403 9.13 MSTN DMD DAG1
5 response to denervation involved in regulation of muscle adaptation GO:0014894 8.92 UTRN FBXO32 DMD DAG1

Molecular functions related to Muscle Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dystroglycan binding GO:0002162 8.96 DMD DAG1
2 vinculin binding GO:0017166 8.8 UTRN DMD DAG1

Sources for Muscle Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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