DMRV
MCID: GNR020
MIFTS: 23

Gne-Related Myopathy (DMRV)

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gne-Related Myopathy

MalaCards integrated aliases for Gne-Related Myopathy:

Name: Gne-Related Myopathy 24
Nonaka Myopathy 24 72
Distal Myopathy with Rimmed Vacuoles 24
Hereditary Inclusion Body Myopathy 2 24
Hibm 24
Dmrv 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is probably not 100%; three individuals with two pathogenic variants were asymptomatic at advanced age. two were homozygous [argov et al 2003] and one was compound heterozygous [nishino et al 2002].

Classifications:



External Ids:

UMLS 72 C1853926

Summaries for Gne-Related Myopathy

MalaCards based summary : Gne-Related Myopathy, also known as nonaka myopathy, is related to inclusion body myositis and myopathy, myofibrillar, 9, with early respiratory failure. An important gene associated with Gne-Related Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). The drugs Glucosamine and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, ovary and myeloid.

GeneReviews: NBK1262

Related Diseases for Gne-Related Myopathy

Diseases in the Myopathy family:

Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy, Congenital
Gne-Related Myopathy Benign Autosomal Dominant Myopathy

Diseases related to Gne-Related Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 inclusion body myositis 11.5
2 myopathy, myofibrillar, 9, with early respiratory failure 11.4
3 hereditary proximal myopathy with early respiratory failure 11.2
4 autosomal recessive disease 10.6
5 muscular dystrophy 10.6
6 myositis 10.5
7 myopathy 10.3
8 oculopharyngodistal myopathy 10.3
9 polymyositis 10.3
10 autosomal recessive distal myopathy 10.3
11 autosomal dominant distal myopathy 10.3
12 sialuria 10.2
13 miyoshi muscular dystrophy 10.2
14 neuromuscular disease 10.2
15 nonaka myopathy 10.2
16 myopathy, distal, with rimmed vacuoles 10.2
17 foot drop 10.2
18 atrial standstill 1 10.2
19 cardiomyopathy, familial restrictive, 1 10.2
20 oculopharyngeal muscular dystrophy 10.2
21 paget disease of bone 3 10.2
22 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.2
23 marinesco-sjogren syndrome 10.2
24 proteasome-associated autoinflammatory syndrome 1 10.2
25 muscular dystrophy, becker type 10.2
26 reducing body myopathy, x-linked 1b, with late childhood or adult onset 10.2
27 muscular dystrophy, duchenne type 10.2
28 frontotemporal dementia 10.2
29 tibial muscular dystrophy, tardive 10.2
30 myotonic dystrophy 2 10.2
31 neuronal ceroid-lipofuscinoses 10.2
32 atrioventricular block 10.2
33 reducing body myopathy 10.2
34 respiratory failure 10.2
35 endomyocardial fibrosis 10.2
36 neuronal ceroid lipofuscinosis 10.2
37 thrombocytopenia 10.2
38 restrictive cardiomyopathy 10.2
39 paget's disease of bone 10.2
40 peripheral nervous system disease 10.2
41 congestive heart failure 10.2
42 muscular atrophy 10.2
43 neuropathy 10.2
44 muscular dystrophy, duchenne and becker type 10.2
45 myopathy - thyrotoxic 10.2
46 myotonia 10.2
47 tremor 10.2
48 inclusion myopathy 10.2
49 progressive muscular dystrophy 10.2
50 tetanus 10.2

Graphical network of the top 20 diseases related to Gne-Related Myopathy:



Diseases related to Gne-Related Myopathy

Symptoms & Phenotypes for Gne-Related Myopathy

Drugs & Therapeutics for Gne-Related Myopathy

Drugs for Gne-Related Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucosamine Approved, Investigational Phase 3 3416-24-8 439213
2
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
3 Antibodies Phase 1
4 Immunologic Factors Phase 1
5 gamma-Globulins Phase 1
6 Immunoglobulins Phase 1
7 Immunoglobulins, Intravenous Phase 1
8 Immunoglobulin G Phase 1
9 Rho(D) Immune Globulin Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Phase 3B Open-Label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
3 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
4 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
5 A Phase 2 Open-label Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
6 Pharmacokinetic Study on N-acetylneuraminic Acid in Patients With Distal Myopathy With Rimmed Vacuoles (DMRV) - Hereditary Inclusion Body Myopathy (hIBM) Completed NCT01236898 Phase 1 NPC-09
7 A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
8 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
9 A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1 Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tables;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets
10 A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases Completed NCT02639260 Phase 1 N-acetyl-mannosamine (ManNAc)
11 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01784679
12 Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE) Completed NCT02196909
13 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533

Search NIH Clinical Center for Gne-Related Myopathy

Genetic Tests for Gne-Related Myopathy

Anatomical Context for Gne-Related Myopathy

MalaCards organs/tissues related to Gne-Related Myopathy:

41
Skeletal Muscle, Ovary, Myeloid

Publications for Gne-Related Myopathy

Articles related to Gne-Related Myopathy:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Crystal structure of the N-acetylmannosamine kinase domain of GNE. 38 4
19841673 2009
2
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. 4
22507750 2012
3
Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. 4
21517694 2011
4
Novel GNE mutations in two phenotypically distinct HIBM2 patients. 4
21131200 2011
5
The proteomic profile of hereditary inclusion body myopathy. 4
21305017 2011
6
Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings. 4
21082694 2011
7
Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy. 4
20440751 2010
8
Hereditary inclusion body myopathy: a decade of progress. 4
19596068 2009
9
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. 4
19448634 2009
10
Sporadic inclusion body myositis: pathogenic considerations. 4
19194875 2009
11
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. 4
18182043 2008
12
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 4
17704511 2007
13
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. 4
17549255 2007
14
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. 4
17110089 2007
15
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. 4
17261181 2007
16
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. 4
16503651 2006
17
Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. 4
15833430 2005
18
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. 4
15670773 2005
19
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 4
15728284 2005
20
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. 4
15146476 2004
21
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 4
15136692 2004
22
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 4
14707127 2004
23
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. 4
14972325 2004
24
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. 4
14733963 2004
25
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. 4
14678807 2003
26
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 4
12913203 2003
27
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. 4
12811782 2003
28
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. 4
12743242 2003
29
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. 4
12497639 2003
30
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 4
12473753 2002
31
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. 4
12473780 2002
32
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. 4
12325084 2002
33
Sialylation is essential for early development in mice. 4
11929971 2002
34
Distal myopathies. 4
11562566 2001
35
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 4
11528398 2001
36
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. 4
11114175 2000
37
Myotilin is mutated in limb girdle muscular dystrophy 1A. 4
10958653 2000
38
Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments. 4
10497249 1999
39
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 4
10330343 1999
40
Facial weakness in hereditary inclusion body myopathies. 4
9633772 1998
41
The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. 4
8857730 1996
42
Inclusion body myositis and myopathies. 4
7486861 1995
43
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 4
8503797 1993
44
Vacuolar myopathy sparing the quadriceps. 4
8453459 1993
45
Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. 4
1650819 1991
46
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander). 4
1656692 1991
47
Distal myopathy with rimmed vacuole formation. A follow-up study. 4
2645018 1989
48
Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome. 4
2846114 1988
49
Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases. 4
3585419 1987
50
"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. 4
6737002 1984

Variations for Gne-Related Myopathy

Expression for Gne-Related Myopathy

Search GEO for disease gene expression data for Gne-Related Myopathy.

Pathways for Gne-Related Myopathy

GO Terms for Gne-Related Myopathy

Sources for Gne-Related Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 EFO
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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