About: Hereditary inclusion body myopathy

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Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion body myopathies comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individuals, but all share similar structural features in the muscles.

Attributes	Values
rdf:type	Thing Disease yago:WikicatMuscularDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disorder114052403 yago:PhysicalCondition114034177 Band disease yago:State100024720
rdfs:label	Hereditary inclusion body myopathy (en)
rdfs:comment	Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion body myopathies comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individuals, but all share similar structural features in the muscles. (en)
foaf:name	Hereditary inclusion body myopathy (en)
name	Hereditary inclusion body myopathy (en)
dct:subject	Muscular disorders
Wikipage page ID	2662397 (xsd:integer)
Wikipage revision ID	1034747888 (xsd:integer)
Link from a Wikipage to another Wikipage	Quadriceps HNRNPA1 HNRPA2B1 Hereditary Desmin-related myofibrillar myopathy dbr:Dystroglycan Inclusion bodies Inclusion body myositis GNE (gene) Vacuole Genetic disorders N-Acetylmannosamine MYH2 Muscle atrophy Autosomal dominant Autosomal recessive Alzheimer's disease Muscular disorders Phenotype Palliative Inclusion body Genetic testing Valosin-containing protein dbr:Neural_cell_adhesion_molecule Myopathy Sialic acid Sialoglycoprotein Multisystem proteinopathy Knockout mice Neuromuscular disorder VCP (gene)
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=ibm https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=ibmpfd https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi%3Fid=600737 https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi%3Fid=603824 https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi%3Fid=605637
sameAs	Hereditary inclusion body myopathy Hereditary inclusion body myopathy Hereditary inclusion body myopathy Hereditary inclusion body myopathy
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:More_citations_needed dbt:Reflist dbt:Short_description
ICD	(en) G71.8 (en)
OMIM	605820 (xsd:integer)
Orphanet	602 (xsd:integer)
synonyms	Hereditary inclusion body myopathy type 2 (en)
has abstract	Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion body myopathies comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individuals, but all share similar structural features in the muscles. HIBMs are a group of muscle wasting disorders that are uncommon in the general world population. One autosomal recessive form of HIBM is known as IBM2 or GNE myopathy, which is a common genetic disorder amongst people of Iranian Jewish descent. IBM2 has also been identified in other minorities throughout the world, including those of Asian, European, and South American, and Middle Eastern descent. In Japan and other East Asian countries, this disorder is known as Distal Myopathy with Rimmed Vacuoles (DMRV). IBM2 causes progressive muscle weakness and wasting. Muscle wasting usually starts around the age of 20 – 30 years, although young onset at 17 and old onset at 52 has been recorded. It can progress to marked disability within 10 to 15 years, confining many people with IBM2 to a wheelchair. The weakness and severity can vary from person to person. In some, weakness in the legs is noticed first. In some others, the hands are weakened more rapidly than the legs. IBM2 does not seem to affect the brain, internal organs or sensation. The quadriceps are relatively spared, and remain strong until the late stages of disease, which is the reason IBM2 is often referred to as Quadriceps Sparing Myopathy (QSM). (en)
MeSH	536816.0 (nicaraguanCórdoba)
gold:hypernym	Group
prov:wasDerivedFrom	wikipedia-en:Hereditary_inclusion_body_myopathy?oldid=1034747888&ns=0
page length (characters) of wiki page	15811 (xsd:nonNegativeInteger)
ICD10	G71.8
OMIM id	605820 (xsd:integer)
ORPHA	602
foaf:isPrimaryTopicOf	wikipedia-en:Hereditary_inclusion_body_myopathy
is Link from a Wikipage to another Wikipage of	List of abbreviations for diseases and disorders Hereditary Inclusion Body Myopathy Nonaka Myopathy Nonaka myopathy List of genetic disorders Ultragenyx Inclusion bodies Inclusion body myositis Muscle biopsy Alok Bhattacharya Cara Elizabeth Yar Khan Quadriceps Sparing Myopathy Skeletal muscle regeneration HIBM Valosin-containing protein GNE myopathy Inclusion body myopathy Inclusion body myopathy 2
is Wikipage redirect of	Hereditary Inclusion Body Myopathy Nonaka Myopathy Nonaka myopathy Quadriceps Sparing Myopathy Skeletal muscle regeneration

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