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	inclusion body myositis

Disease ID	371
Disease	inclusion body myositis
Definition	Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)
Synonym	bodies inclusion myositis body inclusion myositis ibm ibm - inclusion body myositis inclusion body myositides inclusion body myositis (disorder) myositides, inclusion body myositis inclusion body myositis, inclusion body myositis, inclusion body [disease/finding]
Orphanet	ORPHANET:611
OMIM	OMIM:147421
DOID	DOID:3429
UMLS	C0238190
MeSH	D018979
SNOMED-CT	SNOMEDCT_US_2016_09_01:72315009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0029401 \| paget's disease \| 4 C1145670 \| respiratory failure \| 2 C0029401 \| paget's disease of the bone \| 2 C0003873 \| rheumatoid arthritis \| 1 C0026850 \| muscular dystrophy \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0037315 \| sleep disordered breathing \| 1 C0009782 \| connective tissue disease \| 1 C0036202 \| sarcoidosis \| 1 C0009782 \| connective tissue diseases \| 1 C0023418 \| leukemia \| 1 C1527336 \| sjogren's syndrome \| 1 C0027121 \| myositis \| 1 C0023470 \| myeloid leukemia \| 1 C0019291 \| hiatus hernia \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0026848 \| myopathy \| 1 C0270952 \| oculopharyngeal muscular dystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 10020 \| GNE \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 348 \| APOE \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 11277 \| TREX1 \| CIPHER 10020 \| GNE \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:116) 60 \| ACTB \| 1.423 \| DISEASES 87 \| ACTN1 \| 1.614 \| DISEASES 9474 \| ATG5 \| 1.946 \| DISEASES 538 \| ATP7A \| 3.156 \| DISEASES 100379571 \| BACE1-AS \| 2.445 \| DISEASES 25825 \| BACE2 \| 2.569 \| DISEASES 8678 \| BECN1 \| 1.065 \| DISEASES 151888 \| BTLA \| 1.045 \| DISEASES 56244 \| BTNL2 \| 1.866 \| DISEASES 755 \| C21orf2 \| 1.491 \| DISEASES 203228 \| C9orf72 \| 1.42 \| DISEASES 825 \| CAPN3 \| 2.102 \| DISEASES 6354 \| CCL7 \| 1.192 \| DISEASES 910 \| CD1B \| 1.135 \| DISEASES 911 \| CD1C \| 1.707 \| DISEASES 965 \| CD58 \| 1.249 \| DISEASES 942 \| CD86 \| 1.455 \| DISEASES 1020 \| CDK5 \| 1.856 \| DISEASES 1108 \| CHD4 \| 1.384 \| DISEASES 1123 \| CHN1 \| 1.61 \| DISEASES 170482 \| CLEC4C \| 1.852 \| DISEASES 7555 \| CNBP \| 2.303 \| DISEASES 1400 \| CRMP1 \| 1.483 \| DISEASES 1520 \| CTSS \| 1.299 \| DISEASES 4283 \| CXCL9 \| 2.901 \| DISEASES 2833 \| CXCR3 \| 1.645 \| DISEASES 55601 \| DDX60 \| 2.548 \| DISEASES 1756 \| DMD \| 2.688 \| DISEASES 1763 \| DNA2 \| 1.417 \| DISEASES 8291 \| DYSF \| 2.811 \| DISEASES 2010 \| EMD \| 2.87 \| DISEASES 5394 \| EXOSC10 \| 3.745 \| DISEASES 5393 \| EXOSC9 \| 2.073 \| DISEASES 114907 \| FBXO32 \| 1.957 \| DISEASES 79147 \| FKRP \| 3.058 \| DISEASES 10211 \| FLOT1 \| 1.206 \| DISEASES 2737 \| GLI3 \| 1.041 \| DISEASES 152007 \| GLIPR2 \| 2.564 \| DISEASES 10020 \| GNE \| 7.64 \| DISEASES 55876 \| GSDMB \| 1.327 \| DISEASES 2934 \| GSN \| 2.083 \| DISEASES 3035 \| HARS \| 2.47 \| DISEASES 3123 \| HLA-DRB1 \| 2.614 \| DISEASES 3178 \| HNRNPA1 \| 1.581 \| DISEASES 3181 \| HNRNPA2B1 \| 2.22 \| DISEASES 3339 \| HSPG2 \| 1.49 \| DISEASES 23308 \| ICOSLG \| 3.329 \| DISEASES 3437 \| IFIT3 \| 1.357 \| DISEASES 3456 \| IFNB1 \| 1.605 \| DISEASES 24137 \| KIF4A \| 2.01 \| DISEASES 3895 \| KTN1 \| 1.849 \| DISEASES 3908 \| LAMA2 \| 1.931 \| DISEASES 3920 \| LAMP2 \| 2.299 \| DISEASES 11155 \| LDB3 \| 2.347 \| DISEASES 79168 \| LILRA6 \| 2.45 \| DISEASES 4099 \| MAG \| 1.757 \| DISEASES 4137 \| MAPT \| 2.137 \| DISEASES 4291 \| MLF1 \| 1.56 \| DISEASES 23515 \| MORC3 \| 3.725 \| DISEASES 4599 \| MX1 \| 1.877 \| DISEASES 4624 \| MYH6 \| 2.46 \| DISEASES 4625 \| MYH7 \| 2.69 \| DISEASES 4077 \| NBR1 \| 2.74 \| DISEASES 4712 \| NDUFB6 \| 2.397 \| DISEASES 4703 \| NEB \| 1.065 \| DISEASES 10725 \| NFAT5 \| 1.099 \| DISEASES 8473 \| OGT \| 1.215 \| DISEASES 5071 \| PARK2 \| 1.374 \| DISEASES 55010 \| PARPBP \| 1.776 \| DISEASES 5081 \| PAX7 \| 2.496 \| DISEASES 5089 \| PBX2 \| 1.652 \| DISEASES 5252 \| PHF1 \| 1.764 \| DISEASES 5378 \| PMS1 \| 1.161 \| DISEASES 5420 \| PODXL \| 1.575 \| DISEASES 11232 \| POLG2 \| 1.655 \| DISEASES 55624 \| POMGNT1 \| 1.052 \| DISEASES 10585 \| POMT1 \| 1.136 \| DISEASES 5549 \| PRELP \| 1.661 \| DISEASES 5621 \| PRNP \| 1.972 \| DISEASES 5663 \| PSEN1 \| 1.718 \| DISEASES 5699 \| PSMB10 \| 1.369 \| DISEASES 5698 \| PSMB9 \| 1.534 \| DISEASES 5720 \| PSME1 \| 1.596 \| DISEASES 26191 \| PTPN22 \| 1.87 \| DISEASES 22827 \| PUF60 \| 1.9 \| DISEASES 5996 \| RGS1 \| 1.241 \| DISEASES 6048 \| RNF5 \| 2.378 \| DISEASES 12 \| SERPINA3 \| 2.341 \| DISEASES 6533 \| SLC6A6 \| 1.245 \| DISEASES 27293 \| SMPDL3B \| 2.468 \| DISEASES 55234 \| SMU1 \| 2.407 \| DISEASES 8878 \| SQSTM1 \| 3.554 \| DISEASES 6731 \| SRP72 \| 1.781 \| DISEASES 8869 \| ST3GAL5 \| 1.856 \| DISEASES 6775 \| STAT4 \| 1.756 \| DISEASES 8677 \| STX10 \| 3.293 \| DISEASES 81493 \| SYNC \| 2.047 \| DISEASES 23336 \| SYNM \| 1.973 \| DISEASES 7052 \| TGM2 \| 1.606 \| DISEASES 7072 \| TIA1 \| 1.176 \| DISEASES 7124 \| TNF \| 2.32 \| DISEASES 8792 \| TNFRSF11A \| 2.108 \| DISEASES 7133 \| TNFRSF1B \| 2.31 \| DISEASES 8718 \| TNFRSF25 \| 3.274 \| DISEASES 7139 \| TNNT2 \| 1.705 \| DISEASES 10953 \| TOMM34 \| 2.054 \| DISEASES 7169 \| TPM2 \| 2.173 \| DISEASES 8805 \| TRIM24 \| 1.105 \| DISEASES 51592 \| TRIM33 \| 2.721 \| DISEASES 6738 \| TROVE2 \| 2.374 \| DISEASES 7273 \| TTN \| 1.618 \| DISEASES 7311 \| UBA52 \| 2.235 \| DISEASES 7332 \| UBE2L3 \| 2.355 \| DISEASES 9354 \| UBE4A \| 3.241 \| DISEASES 10277 \| UBE4B \| 2.705 \| DISEASES 7415 \| VCP \| 5.044 \| DISEASES
Locus	(Waiting for update.)

Disease ID	371
Disease	inclusion body myositis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0003701 \| Proximal limb muscle weakness HP:0003200 \| Ragged-red muscle fibers HP:0003326 \| Myalgia HP:0003701 \| Proximal muscle weakness HP:0004303 \| Abnormality of muscle fibers HP:0003236 \| Elevated serum creatine phosphokinase HP:0003805 \| Rimmed vacuoles HP:0001265 \| Decreased tendon reflexes HP:0003457 \| EMG abnormality HP:0002960 \| Autoimmunity HP:0003731 \| Quadriceps muscle weakness HP:0002460 \| Weakness of distal muscles HP:0001315 \| Reduced tendon reflexes HP:0002015 \| Swallowing difficulty HP:0009071 \| Inflammatory myopathy HP:0003202 \| Skeletal muscle atrophy HP:0008872 \| Feeding difficulties in infancy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0002878 \| Respiratory failure \| 2 HP:0003198 \| Myopathic changes \| 2 HP:0002015 \| Swallowing difficulty \| 2 HP:0001324 \| Muscular weakness \| 1 HP:0002527 \| Falls \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0030664 \| Beevor's sign \| 1 HP:0003323 \| Muscle weakness, progressive \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0003689 \| Multiple mtDNA deletions \| 1 HP:0003712 \| Hypertrophic muscles \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0001909 \| Leukemia \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0100595 \| Camptocormia \| 1

Disease ID	371
Disease	inclusion body myositis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C2364118 \| weakness C1145670 \| respiratory failure C1096458 \| vascular occlusion C0262941 \| myofasciitis C0221014 \| aa amyloidosis C0026848 \| muscle disease C0011168 \| dysphagia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0004093 \| weakness \| 3 C0011168 \| dysphagia \| 2 C1145670 \| respiratory failure \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0008872	Feeding difficulties in infancy	MP:0011075	abnormal macrophage activation involved in immune response	anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0003701	Proximal muscle weakness	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time
HP:0003202	Skeletal muscle atrophy	MP:0014068	abnormal muscle glycogen level	the normal concentration of a readily converted carbohydrate reserve in muscle tissue
HP:0003236	Elevated serum creatine phosphokinase	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0003731	Quadriceps muscle weakness	MP:0000746	weakness	state of being infirm or less strong than normal
HP:0003200	Ragged-red muscle fibers	MP:0009417	skeletal muscle atrophy	acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or
HP:0002460	Distal muscle weakness	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time

Mapped by homologous gene(Total Items:14)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003805	Rimmed vacuoles	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0003236	Elevated serum creatine phosphokinase	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003457	EMG abnormality	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003200	Ragged-red muscle fibers	MP:0014169	decreased brown adipose tissue mass	decreased physical bulk or volume of brown adipose tissue
HP:0002960	Autoimmunity	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001265	Hyporeflexia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002015	Dysphagia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002460	Distal muscle weakness	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0003202	Skeletal muscle atrophy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0008872	Feeding difficulties in infancy	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003701	Proximal muscle weakness	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003731	Quadriceps muscle weakness	MP:0013239	impaired skeletal muscle regeneration	reduced ability to repair skeletal muscle after injury or disease
HP:0001315	Reduced tendon reflexes	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	371
Disease	inclusion body myositis
Case	(Waiting for update.)

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