Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. [ Orphanet:602 ]
Term information
- ICD10:G71.8 (Orphanet:602)
- OMIM:605820 (Orphanet:602)
- Orphanet:602 (OMIM:605820)
- GARD:0009493 (Orphanet-shared)
- SCTID:702382000 (MONDO:equivalentTo)
ordo_disease
http://linkedlifedata.com/resource/umls/id/C1853926
http://linkedlifedata.com/resource/umls/id/C1833373
Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.
http://identifiers.org/mesh/C536816
http://identifiers.org/omim/605820
http://www.orpha.net/ORDO/Orphanet_602
http://identifiers.org/snomedct/702382000
hereditary inclusion body myopathy type 2
distal myopathy, Nonaka type
distal myopathy with rimmed vacuoles
inclusion body myopathy autosomal recessive
Nonaka myopathy
IBM2
quadriceps-sparing myopathy
DMRV
HIBM2
inclusion body myopathy type 2
Nonaka distal myopathy
quadriceps sparing myopathy
inclusion body myopathy, hereditary, autosomal recessive
myopathy, distal, with or without rimmed vacuoles
inclusion body myopathy, autosomal recessive
inclusion body myopathy, quadriceps-sparing
QSM
myopathy, distal, with rimmed vacuoles
inclusion body myopathy 2, autosomal recessive, formerly
rimmed vacuole myopathy
NM
inclusion body myopathy 2, autosomal recessive
Term relations
- qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
- inclusion myopathy
- syndromic constitutional thrombocytopenia
- congenital disorder of glycosylation with neurological involvement
- disorder of multiple glycosylation
- autosomal recessive distal myopathy
- inclusion body myositis
- disease has basis in dysfunction of some GNE