MCID: BNG038
MIFTS: 9

Benign Autosomal Dominant Myopathy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Autosomal Dominant Myopathy

MalaCards integrated aliases for Benign Autosomal Dominant Myopathy:

Name: Benign Autosomal Dominant Myopathy 54

Classifications:



Summaries for Benign Autosomal Dominant Myopathy

MalaCards based summary : Benign Autosomal Dominant Myopathy is related to bethlem myopathy 1 and myopathy. Affiliated tissues include bone.

Related Diseases for Benign Autosomal Dominant Myopathy

Diseases in the Myopathy family:

Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy, Congenital
Gne-Related Myopathy Benign Autosomal Dominant Myopathy

Diseases related to Benign Autosomal Dominant Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bethlem myopathy 1 11.6
2 myopathy 10.0

Symptoms & Phenotypes for Benign Autosomal Dominant Myopathy

Drugs & Therapeutics for Benign Autosomal Dominant Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy Completed NCT01895283 Not Applicable
3 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable
4 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Benign Autosomal Dominant Myopathy

Genetic Tests for Benign Autosomal Dominant Myopathy

Anatomical Context for Benign Autosomal Dominant Myopathy

MalaCards organs/tissues related to Benign Autosomal Dominant Myopathy:

42
Bone

Publications for Benign Autosomal Dominant Myopathy

Articles related to Benign Autosomal Dominant Myopathy:

# Title Authors Year
1
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. ( 7881296 )
1994

Variations for Benign Autosomal Dominant Myopathy

Expression for Benign Autosomal Dominant Myopathy

Search GEO for disease gene expression data for Benign Autosomal Dominant Myopathy.

Pathways for Benign Autosomal Dominant Myopathy

GO Terms for Benign Autosomal Dominant Myopathy

Sources for Benign Autosomal Dominant Myopathy

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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