Details of Disease

General Information of Disease (ID: DIS73X4W)

• Disease Name: GNE myopathy
• Synonyms: inclusion body myopathy 2, autosomal recessive; quadriceps sparing myopathy; inclusion body myopathy, autosomal recessive; inclusion body myopathy, quadriceps-sparing; Nonaka distal myopathy; inclusion body myopathy 2, autosomal recessive, formerly; inclusion body myopathy, hereditary, autosomal recessive; NM; rimmed vacuole myopathy; myopathy, distal, with rimmed vacuoles; myopathy, distal, with or without rimmed vacuoles; QSM; distal myopathy with rimmed vacuoles; distal myopathy, Nonaka type; inclusion body myopathy autosomal recessive; Nonaka myopathy; hereditary inclusion body myopathy type 2; IBM2; DMRV; inclusion body myopathy type 2; HIBM2; quadriceps-sparing myopathy
• Definition: 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.
• Disease Hierarchy:
  DISAWDAB: Congenital hematological disorder
  DISO85MT: Disorder of multiple glycosylation
  DISFXMTP: Syndromic constitutional thrombocytopenia
  DISZXXG5: Inclusion body myositis
  DISDUT8O: Hereditary inclusion-body myopathy
  DIS73X4W: GNE myopathy
• Disease Identifiers:
  MONDO ID: MONDO_0011603
  MESH ID: C536816
  UMLS CUI: C1853926
  OMIM ID: 605820
  MedGen ID: 381298
  Orphanet ID: 602
  SNOMED CT ID: 702382000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 14 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BACE1	TTJUNZF	Limited	Altered Expression	[1]
BACE2	TT69DB8	Limited	Altered Expression	[1]
CFP	TTLA0VS	Limited	Biomarker	[2]
CYP11A1	TTSYVO6	Limited	Altered Expression	[3]
GNE	TT4DP5S	Limited	Genetic Variation	[4]
HNRNPA2B1	TT8UPW6	Limited	Genetic Variation	[5]
PRDX4	TTPBL9I	Limited	Altered Expression	[6]
SCN11A	TTN9VTF	Limited	Genetic Variation	[7]
VIPR2	TT4O5P0	Limited	Altered Expression	[8]
KIR2DL3	TTEX3SI	moderate	Biomarker	[9]
RENBP	TTZCG0Q	Strong	Genetic Variation	[10]
SQSTM1	TTOT2RY	Strong	Genetic Variation	[11]
GNE	TT4DP5S	Definitive	Autosomal recessive	[12]
VCP	TTHNLSB	Definitive	Genetic Variation	[13]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP7A	DT0LT17	Strong	Genetic Variation	[10]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SMOX	DEOH5V3	Limited	Biomarker	[14]

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Limited	Biomarker	[15]
ACTN2	OT9FOLD7	Limited	Genetic Variation	[16]
ACTR2	OT3C8U5T	Limited	Altered Expression	[17]
AIP	OTDJ3OSV	Limited	Biomarker	[18]
CAV3	OTWSFDB4	Limited	Biomarker	[19]
DNAJB6	OTMHIIAN	Limited	Biomarker	[5]
GRHL3	OT1V4ZEH	Limited	Biomarker	[20]
MYOT	OTCEW5XW	Limited	Genetic Variation	[21]
PIP	OTH719AH	Limited	Genetic Variation	[22]
TNNT1	OT8PBOAR	Limited	Biomarker	[23]
CLTA	OTLHOXMQ	Strong	Genetic Variation	[24]
GNE	OTNONPMB	Definitive	Autosomal recessive	[12]

References

• [1] BACE1 and BACE2 in pathologic and normal human muscle.Exp Neurol. 2003 Feb;179(2):150-8. doi: 10.1016/s0014-4886(02)00025-0.
• [2] Complement factor P is a ligand for the natural killer cell-activating receptor NKp46.Sci Immunol. 2017 Apr 28;2(10):eaam9628. doi: 10.1126/sciimmunol.aam9628.
• [3] The effect of insulin and insulin-like growth factors on the expression of steroidogenic enzymes in a human ovarian thecal-like tumor cell model.Fertil Steril. 1996 Jan;65(1):87-93. doi: 10.1016/s0015-0282(16)58032-7.
• [4] Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.Muscle Nerve. 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. Epub 2019 Apr 29.
• [5] Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.Hum Mol Genet. 2016 Mar 1;25(5):936-50. doi: 10.1093/hmg/ddv627. Epub 2016 Jan 6.
• [6] Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.Neuromolecular Med. 2017 Dec;19(4):525-540. doi: 10.1007/s12017-017-8467-5. Epub 2017 Sep 11.
• [7] Editor's Highlight: Effects of Intraperitoneal Injection of SnS2 Flowers on Mouse Testicle.Toxicol Sci. 2018 Feb 1;161(2):388-400. doi: 10.1093/toxsci/kfx220.
• [8] PACAP38-Mediated Bladder Afferent Nerve Activity Hyperexcitability and Ca(2+) Activity in Urothelial Cells from Mice.J Mol Neurosci. 2019 Jul;68(3):348-356. doi: 10.1007/s12031-018-1119-x. Epub 2018 Jul 19.
• [9] KIR gene variability in cutaneous malignant melanoma: influence of KIR2D/HLA-C pairings on disease susceptibility and prognosis.Immunogenetics. 2013 May;65(5):333-43. doi: 10.1007/s00251-013-0682-0. Epub 2013 Jan 31.
• [10] Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.Glycobiology. 2010 Mar;20(3):322-37. doi: 10.1093/glycob/cwp176. Epub 2009 Nov 16.
• [11] SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24.
• [12] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [13] Clinical spectrum of valosin containing protein (VCP)-opathy.Muscle Nerve. 2016 Jun;54(1):94-9. doi: 10.1002/mus.24980. Epub 2015 Dec 29.
• [14] Catalase A is involved in the response to photooxidative stress in Pseudomonas aeruginosa.Photodiagnosis Photodyn Ther. 2018 Jun;22:233-240. doi: 10.1016/j.pdpdt.2018.04.016. Epub 2018 Apr 27.
• [15] Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.Hum Mol Genet. 2004 Aug 15;13(16):1727-43. doi: 10.1093/hmg/ddh185. Epub 2004 Jun 15.
• [16] The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.Mol Neurobiol. 2017 May;54(4):2928-2938. doi: 10.1007/s12035-016-9862-x. Epub 2016 Mar 29.
• [17] 1,25(OH)2D3 Induces Actin Depolymerization in Endometrial Carcinoma Cells by Targeting RAC1 and PAK1.Cell Physiol Biochem. 2016;40(6):1455-1464. doi: 10.1159/000453197. Epub 2016 Dec 20.
• [18] The novel CaMKII inhibitor GS-680 reduces diastolic SR Ca leak and prevents CaMKII-dependent pro-arrhythmic activity.J Mol Cell Cardiol. 2018 May;118:159-168. doi: 10.1016/j.yjmcc.2018.03.020. Epub 2018 Mar 31.
• [19] Quantification of lectin fluorescence in GNE myopathy muscle biopsies.Muscle Nerve. 2018 Aug;58(2):286-292. doi: 10.1002/mus.26135. Epub 2018 Apr 23.
• [20] Brain metastases in non-small cell lung cancer patients on epidermal growth factor receptor tyrosine kinase inhibitors: symptom and economic burden.J Med Econ. 2017 Nov;20(11):1136-1147. doi: 10.1080/13696998.2017.1361960. Epub 2017 Aug 14.
• [21] Myopathies resulting from mutations in sarcomeric proteins.Curr Opin Neurol. 2004 Oct;17(5):529-37. doi: 10.1097/00019052-200410000-00003.
• [22] (18)F-Positron Emitting/Trimethine Cyanine-Fluorescent Contrast for Image-Guided Prostate Cancer Management.J Med Chem. 2018 May 10;61(9):4256-4262. doi: 10.1021/acs.jmedchem.8b00240. Epub 2018 Apr 20.
• [23] 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.Neuromuscul Disord. 2019 Oct;29(10):766-770. doi: 10.1016/j.nmd.2019.09.005. Epub 2019 Sep 6.
• [24] Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.J Hum Genet. 2017 Feb;62(2):159-166. doi: 10.1038/jhg.2016.134. Epub 2016 Nov 10.