Inclusion Body Myositis malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Inclusion Body Myositis:
Orphanet epidemiological data:52
inclusion body myositis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
ICD10: 29 28
Rare neurological diseases
NIH Rare Diseases:46 Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (hibm), gne-related myopathy, distal myopathy with rimmed vacuoles, and nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). this disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. inclusion body myopathy 2 is caused by mutations in the gne gene. the condition is inherited in an autosomal recessive manner. treatment is focused on managing individual symptoms. last updated: 1/13/2014
MalaCards based summary: Inclusion Body Myositis, also known as nonaka myopathy, is related to nonaka myopathy and inclusion body myopathy, autosomal recessive, and has symptoms including autoimmunity, skeletal muscle atrophy and emg abnormality. An important gene associated with Inclusion Body Myositis is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways are Alzheimers Disease Pathway and Mitophagy. The drugs carisoprodol and chlorphenesin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, t cells and brain, and related mouse phenotypes are muscle and immune system.
Disease Ontology:11 A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.
NINDS:47 Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness.
Genetics Home Reference:24 Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.
OMIM:50 Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in... (147421) more...
Wikipedia:69 Inclusion body myositis (IBM) is an inflammatory muscle disease characterized by slowly progressive... more...
Symptoms by clinical synopsis from OMIM:147421
Clinical features from OMIM:147421
Symptoms:52 (show all 13)
HPO human phenotypes related to Inclusion Body Myositis:(show all 11)
UMLS symptoms related to Inclusion Body Myositis:back pain, muscle cramp, muscle rigidity, muscle spasticity, myoclonus, sciatica, torticollis, muscle weakness, myalgia, ophthalmoplegia
Drugs for Inclusion Body Myositis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 34)
Interventional clinical trials:(show top 50) (show all 88)
Search NIH Clinical Center for Inclusion Body Myositis
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Inclusion Body Myositis:34
Skeletal muscle, T cells, Brain, Heart, Testes, Eye, Myeloid
Articles related to Inclusion Body Myositis:(show top 50) (show all 582)
Clinvar genetic disease variations for Inclusion Body Myositis:5
Search GEO for disease gene expression data for Inclusion Body Myositis.
Pathways related to Inclusion Body Myositis according to GeneCards Suite gene sharing:
Cellular components related to Inclusion Body Myositis according to GeneCards Suite gene sharing:
Biological processes related to Inclusion Body Myositis according to GeneCards Suite gene sharing:
Molecular functions related to Inclusion Body Myositis according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet