NM
MCID: NNK001
MIFTS: 58

Nonaka Myopathy (NM)

Categories: Blood diseases, Bone diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nonaka Myopathy

MalaCards integrated aliases for Nonaka Myopathy:

Name: Nonaka Myopathy 57 12 25 20 43 58 72 13 54 70
Gne Myopathy 57 12 25 20 58 72 29 6 15
Distal Myopathy with Rimmed Vacuoles 12 25 20 43 58 29
Hereditary Inclusion Body Myopathy 12 73 25 20 43
Hibm 57 25 20 43 72
Ibm2 25 20 43 58 72
Inclusion Body Myopathy, Quadriceps-Sparing 57 20 43 72
Dmrv 25 20 43 58
Qsm 57 20 43 72
Inclusion Body Myopathy, Autosomal Recessive 20 43 70
Distal Myopathy, Nonaka Type 12 58 44
Inclusion Body Myopathy 2 12 20 43
Nonaka Distal Myopathy 57 72 36
Inclusion Body Myopathy, Hereditary, Autosomal Recessive 57 72
Myopathy, Distal, with or Without Rimmed Vacuoles 57 72
Inclusion Body Myopathy Type 2 25 58
Quadriceps-Sparing Myopathy 25 58
Rimmed Vacuole Myopathy 20 43
Nm 57 72
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly; Ibm2, Formerly 57
Inclusion Body Myopathy, Hereditary, Autosomal Recessive; Hibm 57
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly 57
Inclusion Body Myopathy, Quadriceps-Sparing; Qsm 57
Inclusion Body Myopathy 2, Autosomal Recessive 72
Inclusion Body Myopathy Autosomal Recessive 44
Hereditary Inclusion Body Myopathy Type 2 58
Myopathy, Distal, with Rimmed Vacuoles 72
Myopathy, Inclusion Body, Type 2 39
Quadriceps Sparing Myopathy 20
Myopathy, Nonaka 39
Ibm2, Formerly 57
Hibm2 58

Characteristics:

Orphanet epidemiological data:

58
gne myopathy
Inheritance: Autosomal recessive; Prevalence: 6-9/10000; Age of onset: Adolescent,Adult,Elderly;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early adulthood (average 26 years)
wheelchair-bound average 12 years after onset


HPO:

31
nonaka myopathy:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


GeneReviews:

25
Penetrance Penetrance of biallelic gne pathogenic variants is likely close to 100%. only two older individuals with biallelic gne pathogenic variants have been reported to be asymptomatic: one (age 67 years) was homozygous for the common middle eastern variant p.met743thr [argov et al 2003] and one (age 60 years) was homozygous for the common japanese variant p.asp207val [nishino et al 2002].

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0080718
OMIM® 57 605820
KEGG 36 H00596
SNOMED-CT 67 702382000
MESH via Orphanet 45 C536816
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 71 C1833373 C1853926
Orphanet 58 ORPHA602
MedGen 41 C1853926
UMLS 70 C1833373 C1853926

Summaries for Nonaka Myopathy

MedlinePlus Genetics : 43 Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh. This condition also does not affect muscles of the eye or heart, and it does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear.People with the characteristic features of inclusion body myopathy 2 have been described in several different populations. When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by mutations in the same gene.

MalaCards based summary : Nonaka Myopathy, also known as gne myopathy, is related to myopathy, myofibrillar, 9, with early respiratory failure and inclusion body myositis. An important gene associated with Nonaka Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways/superpathways is Amino sugar and nucleotide sugar metabolism. The drugs Glucosamine and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and bone, and related phenotypes are rimmed vacuoles and mildly elevated creatine kinase

Disease Ontology : 12 A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has material basis in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.

GARD : 20 Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE -related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.

KEGG : 36 Nonaka distal myopathy, also known as distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. DMRV is a myopathy involving distal muscles, although other muscles are likewise involved. The pathological characteristics are the presence of rimmed vacuoles in muscle fibers, but are not specific to this myopathy, and the presence of scattered small angular and atrophic fibers.

UniProtKB/Swiss-Prot : 72 Nonaka myopathy: Autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.

Wikipedia : 73 Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different... more...

More information from OMIM: 605820
GeneReviews: NBK1262

Related Diseases for Nonaka Myopathy

Diseases related to Nonaka Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 9, with early respiratory failure 32.0 MYOT LDB3 FLNC
2 inclusion body myositis 32.0 VCP TARDBP SQSTM1 SERPINA3 GNE
3 foot drop 31.2 MYOT DYSF
4 myositis 31.0 VCP SERPINA3 GNE DYSF
5 paget's disease of bone 30.8 VCP SQSTM1 FLNC
6 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.8 VCP TARDBP SQSTM1
7 frontotemporal dementia 30.8 VCP TARDBP SQSTM1 GNE
8 sialuria 30.4 NAGK GNE CHL1 ATP7A
9 motor neuron disease 30.3 VCP TARDBP SQSTM1 SERPINA3
10 miyoshi muscular dystrophy 30.2 MYOT GNE FLNC DYSF DAG1
11 muscular dystrophy 30.1 VCP MYOT MYH2 LDB3 GNE FLNC
12 inclusion body myopathy with paget disease of bone and frontotemporal dementia 30.1 VCP UNC45B UBE4B UBE4A TARDBP SQSTM1
13 muscular disease 30.0 VCP SERPINA3 MYOT GNE FLNC DYSF
14 neuromuscular disease 29.9 VCP TARDBP SERPINA3 MYOT LDB3 GNE
15 myofibrillar myopathy 29.5 VCP UNC45B TARDBP SERPINA3 MYOT LDB3
16 myopathy 29.1 VCP UNC45B TARDBP SQSTM1 SERPINA3 MYOT
17 myopathy, proximal, with ophthalmoplegia 11.8
18 hereditary inclusion body myopathy type 4 11.3
19 myopathy, distal, with rimmed vacuoles 11.2
20 hereditary proximal myopathy with early respiratory failure 11.0
21 spastic paraplegia-paget disease of bone syndrome 10.4 VCP SQSTM1
22 welander distal myopathy 10.4 SQSTM1 DYSF
23 polymyositis 10.4
24 autosomal dominant distal myopathy 10.4
25 scapuloperoneal syndrome, neurogenic, kaeser type 10.4 MYOT LDB3
26 muscular dystrophy-dystroglycanopathy , type c, 9 10.4 MYOT DAG1
27 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 MYOT DYSF
28 associative agnosia 10.4 VCP TARDBP
29 autosomal recessive limb-girdle muscular dystrophy type 2j 10.4 MYOT DYSF
30 autosomal recessive limb-girdle muscular dystrophy type 2x 10.4 MYOT DYSF
31 autosomal recessive limb-girdle muscular dystrophy type 2h 10.4 MYOT DYSF
32 autosomal recessive disease 10.4
33 nominal aphasia 10.4 VCP TARDBP
34 alexia 10.4 VCP TARDBP
35 agraphia 10.4 VCP TARDBP
36 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 MYOT DYSF DAG1
37 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 MYOT DYSF DAG1
38 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 MYOT DYSF DAG1
39 muscular dystrophy-dystroglycanopathy , type c, 1 10.3 MYOT DAG1
40 muscular dystrophy-dystroglycanopathy , type c, 4 10.3 MYOT DYSF DAG1
41 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 MYOT DYSF
42 autosomal recessive limb-girdle muscular dystrophy type 2d 10.3 MYOT DYSF DAG1
43 writing disorder 10.3 VCP TARDBP
44 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 MYOT DYSF DAG1
45 muscular dystrophy-dystroglycanopathy , type c, 5 10.3 MYOT DYSF DAG1
46 myh-9 related disease 10.3 MYH2 ACTN1
47 bethlem myopathy 1 10.3 MYOT DYSF DAG1
48 multisystem proteinopathy 10.3 VCP TARDBP SQSTM1
49 batten-turner congenital myopathy 10.3 MYOT LDB3 DYSF
50 dementia 10.3

Graphical network of the top 20 diseases related to Nonaka Myopathy:



Diseases related to Nonaka Myopathy

Symptoms & Phenotypes for Nonaka Myopathy

Human phenotypes related to Nonaka Myopathy:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rimmed vacuoles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003805
2 mildly elevated creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0008180
3 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
4 tibialis muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0008963
5 fatty replacement of skeletal muscle 58 31 hallmark (90%) Very frequent (99-80%) HP:0012548
6 muscle fiber inclusion bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0100299
7 hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000821
8 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
9 steppage gait 58 31 frequent (33%) Frequent (79-30%) HP:0003376
10 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
11 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
12 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
13 limited wrist extension 58 31 frequent (33%) Frequent (79-30%) HP:0006251
14 limited shoulder movement 58 31 frequent (33%) Frequent (79-30%) HP:0006467
15 hip flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0012515
16 emg: positive sharp waves 58 31 frequent (33%) Frequent (79-30%) HP:0030007
17 emg: myotonic discharges 58 31 frequent (33%) Frequent (79-30%) HP:0100284
18 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
19 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
20 shoulder girdle muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003724
21 abnormality of the foot musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001436
22 lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007210
23 abnormal right hemidiaphragm morphology 31 occasional (7.5%) HP:0040047
24 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001638
25 weakness of long finger extensor muscles 58 31 very rare (1%) Very rare (<4-1%) HP:0009077
26 distal lower limb muscle weakness 31 very rare (1%) HP:0009053
27 gait disturbance 31 HP:0001288
28 muscle weakness 58 Occasional (29-5%)
29 elevated serum creatine kinase 31 HP:0003236
30 distal muscle weakness 31 HP:0002460
31 quadriceps muscle weakness 58 Excluded (0%)
32 distal amyotrophy 31 HP:0003693
33 lower limb muscle weakness 58 Very frequent (99-80%)
34 abnormality of the right hemidiaphragm 58 Occasional (29-5%)
35 deposits immunoreactive to beta-amyloid protein 31 HP:0003791

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
distal muscle weakness
deposits immunoreactive to beta-amyloid protein
myopathic changes seen on emg
distal muscle atrophy
hamstring muscle affected
more
Laboratory Abnormalities:
increased creatine phosphokinase (cpk)

Neurologic Central Nervous System:
gait abnormalities

Clinical features from OMIM®:

605820 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Nonaka Myopathy according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00154-A 9.74 GNE
2 Decreased viability GR00221-A-1 9.74 GNE
3 Decreased viability GR00221-A-3 9.74 GNE
4 Decreased viability GR00221-A-4 9.74 DYSF GNE
5 Decreased viability GR00231-A 9.74 SQSTM1
6 Decreased viability GR00240-S-1 9.74 NAGK
7 Decreased viability GR00249-S 9.74 ACTN1 ATP7A DAG1 SERPINA3
8 Decreased viability GR00301-A 9.74 DYSF
9 Decreased viability GR00342-S-1 9.74 NAGK
10 Decreased viability GR00342-S-2 9.74 NAGK
11 Decreased viability GR00342-S-3 9.74 NAGK
12 Decreased viability GR00381-A-1 9.74 LDB3 SQSTM1 VCP
13 Decreased viability GR00386-A-1 9.74 ATP7A CHL1 DAG1 MYH2 UBE4B
14 Decreased viability GR00402-S-2 9.74 NAGK SQSTM1 VCP

MGI Mouse Phenotypes related to Nonaka Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ATP7A CHL1 CHN1 DAG1 DYSF FLNC
2 muscle MP:0005369 9.32 ATP7A CHN1 DAG1 DYSF FLNC GNE

Drugs & Therapeutics for Nonaka Myopathy

Drugs for Nonaka Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# 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 Rho(D) Immune Globulin Phase 1
4 Immunoglobulins Phase 1
5 Immunologic Factors Phase 1
6 gamma-Globulins Phase 1
7 Immunoglobulins, Intravenous Phase 1
8 Antibodies Phase 1

Interventional clinical trials:

(show all 17)
# 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 Efficacy Confirmation Study of NPC-09 Recruiting NCT04671472 Phase 3 NPC-09;NPC-09 placebo
3 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
4 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
5 An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
6 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
7 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy Not yet recruiting NCT04231266 Phase 2 ManNAc
8 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
9 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
10 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
11 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
12 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
13 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
14 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
15 Retrospective Cohort Study Assessing the Natural Course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and Sporadic and Hereditary Inclusion Body Myopathies (IBM) Completed NCT01902940
16 A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases Recruiting NCT01417533
17 International GNE Myopathy Patient Registry (GNE001) Recruiting NCT04009226

Search NIH Clinical Center for Nonaka Myopathy

Cochrane evidence based reviews: distal myopathy, nonaka type

Genetic Tests for Nonaka Myopathy

Genetic tests related to Nonaka Myopathy:

# Genetic test Affiliating Genes
1 Gne Myopathy 29 GNE
2 Distal Myopathy with Rimmed Vacuoles 29 SQSTM1

Anatomical Context for Nonaka Myopathy

MalaCards organs/tissues related to Nonaka Myopathy:

40
Skeletal Muscle, Eye, Bone, Brain, Ovary, Lung, Kidney

Publications for Nonaka Myopathy

Articles related to Nonaka Myopathy:

(show top 50) (show all 235)
# Title Authors PMID Year
1
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. 25 57 6
12743242 2003
2
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 25 6 57
12473753 2002
3
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). 61 6 57 54
11916006 2002
4
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 57 6 25
11528398 2001
5
Progression of GNE Myopathy Based on the Patient-Reported Outcome. 61 6 25
31286697 2019
6
GNE myopathy in Chinese population: hotspot and novel mutations. 6 61 25
30390020 2019
7
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. 25 6 61
29480215 2018
8
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. 25 6 61
28641925 2017
9
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. 6 61 25
28717665 2017
10
A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene. 6 25 61
28320138 2017
11
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 61 6 25
27829678 2017
12
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. 6 61 25
26231298 2015
13
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 6 25 61
25986339 2015
14
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. 6 25 61
27858732 2015
15
Atypical presentation of GNE myopathy with asymmetric hand weakness. 6 61 25
25182749 2014
16
Two recurrent mutations are associated with GNE myopathy in the North of Britain. 25 61 6
24695763 2014
17
Mutation update for GNE gene variants associated with GNE myopathy. 6 61 25
24796702 2014
18
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 6 25 61
24027297 2014
19
GNE myopathy: new name and new mutation nomenclature. 61 25 57
24685570 2014
20
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles). 6 25 61
23127962 2013
21
Muscle imaging findings in GNE myopathy. 6 61 25
22231866 2012
22
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 6 57
17704511 2007
23
GNE protein expression and subcellular distribution are unaltered in HIBM. 57 6
17698786 2007
24
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. 6 57
16372135 2006
25
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 6 57
12913203 2003
26
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. 57 6
12473780 2002
27
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 57 6
12473769 2002
28
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 6 57
12177386 2002
29
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. 25 6
19917666 2010
30
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. 25 57
19448634 2009
31
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. 61 54 6
18555875 2008
32
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. 6 25
16503651 2006
33
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. 25 57
16534119 2006
34
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. 6 25
15987957 2005
35
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. 6 25
15146476 2004
36
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. 25 6
14972325 2004
37
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 25 6
14707127 2004
38
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. 25 6
12811782 2003
39
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. 6 25
12325084 2002
40
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. 6 25
10330343 1999
41
Vacuolar myopathy sparing the quadriceps. 57 25
8453459 1993
42
"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. 25 57
6737002 1984
43
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. 57 25
7252518 1981
44
Discordant manifestations in Italian brothers with GNE myopathy. 6 61
29406958 2018
45
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. 6 61
29307446 2018
46
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. 61 6
28895049 2017
47
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. 6 61
28099567 2017
48
Genetics of GNE myopathy in the non-Jewish Persian population. 6 61
25966635 2016
49
Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report. 6 61
26161358 2015
50
GNE myopathy: current update and future therapy. 6 61
25002140 2015

Variations for Nonaka Myopathy

ClinVar genetic disease variations for Nonaka Myopathy:

6 (show top 50) (show all 381)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNE NM_005476.7(GNE):c.165-8G>A SNV Affects 619300 rs918998080 GRCh37: 9:36246487-36246487
GRCh38: 9:36246490-36246490
2 GNE NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) SNV Pathogenic 286439 rs757523840 GRCh37: 9:36218269-36218269
GRCh38: 9:36218272-36218272
3 GNE NM_005476.7(GNE):c.38G>C (p.Cys13Ser) SNV Pathogenic 496947 rs1209266607 GRCh37: 9:36249315-36249315
GRCh38: 9:36249318-36249318
4 GNE NM_005476.7(GNE):c.736C>T (p.Arg246Trp) SNV Pathogenic 197184 rs773729410 GRCh37: 9:36236862-36236862
GRCh38: 9:36236865-36236865
5 GNE NC_000009.12:g.(?_36276884)_(36277052_?)del Deletion Pathogenic 832598 GRCh37: 9:36276881-36277049
GRCh38:
6 GNE NM_005476.7(GNE):c.175C>T (p.Arg59Ter) SNV Pathogenic 285936 rs745517517 GRCh37: 9:36246469-36246469
GRCh38: 9:36246472-36246472
7 GNE NM_005476.7(GNE):c.829C>T (p.Arg277Cys) SNV Pathogenic 188847 rs762106720 GRCh37: 9:36234070-36234070
GRCh38: 9:36234073-36234073
8 GNE NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) Deletion Pathogenic 847245 GRCh37: 9:36222860-36222861
GRCh38: 9:36222863-36222864
9 GNE NM_005476.7(GNE):c.-15C>T SNV Pathogenic 195244 rs794727279 GRCh37: 9:36249367-36249367
GRCh38: 9:36249370-36249370
10 GNE NM_005476.7(GNE):c.470_471del (p.His157fs) Deletion Pathogenic 498582 rs1554663368 GRCh37: 9:36246173-36246174
GRCh38: 9:36246176-36246177
11 GNE NM_005476.7(GNE):c.2023T>C (p.Tyr675His) SNV Pathogenic 861130 GRCh37: 9:36217508-36217508
GRCh38: 9:36217511-36217511
12 GNE NM_005476.7(GNE):c.636dup (p.Asp213fs) Duplication Pathogenic 371213 rs1057517094 GRCh37: 9:36236961-36236962
GRCh38: 9:36236964-36236965
13 GNE NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) SNV Pathogenic 552288 rs747199032 GRCh37: 9:36227268-36227268
GRCh38: 9:36227271-36227271
14 GNE NM_005476.7(GNE):c.397_398dup (p.Glu134fs) Duplication Pathogenic 953066 GRCh37: 9:36246245-36246246
GRCh38: 9:36246248-36246249
15 GNE NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) SNV Pathogenic 955117 GRCh37: 9:36222939-36222939
GRCh38: 9:36222942-36222942
16 GNE NM_005476.7(GNE):c.1130del (p.Ile377fs) Deletion Pathogenic 956608 GRCh37: 9:36227396-36227396
GRCh38: 9:36227399-36227399
17 GNE NM_005476.7(GNE):c.1510dup (p.Leu504fs) Duplication Pathogenic 958303 GRCh37: 9:36222896-36222897
GRCh38: 9:36222899-36222900
18 GNE NM_005476.7(GNE):c.680dup (p.His228fs) Duplication Pathogenic 557458 rs1554661552 GRCh37: 9:36236917-36236918
GRCh38: 9:36236920-36236921
19 GNE NM_005476.7(GNE):c.787C>T (p.Arg263Ter) SNV Pathogenic 966732 GRCh37: 9:36234112-36234112
GRCh38: 9:36234115-36234115
20 GNE NM_005476.7(GNE):c.797G>A (p.Arg266Gln) SNV Pathogenic 6022 rs121908622 GRCh37: 9:36234102-36234102
GRCh38: 9:36234105-36234105
21 GNE NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) Insertion Pathogenic 968264 GRCh37: 9:36229042-36229043
GRCh38: 9:36229045-36229046
22 GNE NM_005476.7(GNE):c.484C>T (p.Arg162Cys) SNV Pathogenic 290196 rs769215411 GRCh37: 9:36246160-36246160
GRCh38: 9:36246163-36246163
23 GNE NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) SNV Pathogenic 6026 rs121908625 GRCh37: 9:36219924-36219924
GRCh38: 9:36219927-36219927
24 GNE NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) SNV Pathogenic 6027 rs121908626 GRCh37: 9:36218222-36218222
GRCh38: 9:36218225-36218225
25 GNE NM_005476.7(GNE):c.909T>A (p.Cys303Ter) SNV Pathogenic 6029 rs121908628 GRCh37: 9:36233990-36233990
GRCh38: 9:36233993-36233993
26 GNE NM_005476.7(GNE):c.1379C>T (p.Ala460Val) SNV Pathogenic 6032 rs121908631 GRCh37: 9:36223402-36223402
GRCh38: 9:36223405-36223405
27 GNE NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val) Indel Pathogenic 6034 rs121908633 GRCh37: 9:36233991-36233992
GRCh38: 9:36233994-36233995
28 GNE NM_005476.7(GNE):c.511A>G (p.Met171Val) SNV Pathogenic 6036 rs121908634 GRCh37: 9:36246133-36246133
GRCh38: 9:36246136-36246136
29 SQSTM1 NM_003900.5(SQSTM1):c.1165+1G>A SNV Pathogenic 8110 rs796051870 GRCh37: 5:179260783-179260783
GRCh38: 5:179833783-179833783
30 GNE NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) SNV Pathogenic 188882 rs748949603 GRCh37: 9:36219891-36219891
GRCh38: 9:36219894-36219894
31 GNE Deletion Pathogenic 438624 GRCh37: 9:36259402-36266483
GRCh38: 9:36259405-36266486
32 GNE NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) SNV Pathogenic 552288 rs747199032 GRCh37: 9:36227268-36227268
GRCh38: 9:36227271-36227271
33 GNE NM_005476.7(GNE):c.22C>T (p.Arg8Ter) SNV Pathogenic 552994 rs766420673 GRCh37: 9:36249331-36249331
GRCh38: 9:36249334-36249334
34 GNE NM_005476.7(GNE):c.2135T>C (p.Met712Thr) SNV Pathogenic 6025 rs28937594 GRCh37: 9:36217396-36217396
GRCh38: 9:36217399-36217399
35 GNE NM_005476.7(GNE):c.1714G>C (p.Val572Leu) SNV Pathogenic 6033 rs121908632 GRCh37: 9:36219937-36219937
GRCh38: 9:36219940-36219940
36 GNE NM_005476.7(GNE):c.1892C>T (p.Ala631Val) SNV Pathogenic 6035 rs62541771 GRCh37: 9:36218221-36218221
GRCh38: 9:36218224-36218224
37 GNE NM_005476.7(GNE):c.2086G>A (p.Val696Met) SNV Pathogenic 6028 rs121908627 GRCh37: 9:36217445-36217445
GRCh38: 9:36217448-36217448
38 GNE NM_005476.7(GNE):c.1571C>T (p.Ala524Val) SNV Pathogenic 424619 rs764698870 GRCh37: 9:36222836-36222836
GRCh38: 9:36222839-36222839
39 GNE NM_005476.7(GNE):c.2086G>A (p.Val696Met) SNV Pathogenic 6028 rs121908627 GRCh37: 9:36217445-36217445
GRCh38: 9:36217448-36217448
40 GNE NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) SNV Pathogenic 283278 rs199877522 GRCh37: 9:36227394-36227394
GRCh38: 9:36227397-36227397
41 GNE NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) SNV Pathogenic 283278 rs199877522 GRCh37: 9:36227394-36227394
GRCh38: 9:36227397-36227397
42 GNE NM_005476.7(GNE):c.2135T>C (p.Met712Thr) SNV Pathogenic 6025 rs28937594 GRCh37: 9:36217396-36217396
GRCh38: 9:36217399-36217399
43 GNE NM_005476.7(GNE):c.1892C>T (p.Ala631Val) SNV Pathogenic 6035 rs62541771 GRCh37: 9:36218221-36218221
GRCh38: 9:36218224-36218224
44 GNE NM_005476.7(GNE):c.737G>A (p.Arg246Gln) SNV Pathogenic 6030 rs121908629 GRCh37: 9:36236861-36236861
GRCh38: 9:36236864-36236864
45 GNE NM_005476.7(GNE):c.527A>T (p.Asp176Val) SNV Pathogenic 41233 rs139425890 GRCh37: 9:36246117-36246117
GRCh38: 9:36246120-36246120
46 GNE NM_005476.7(GNE):c.1714G>C (p.Val572Leu) SNV Pathogenic 6033 rs121908632 GRCh37: 9:36219937-36219937
GRCh38: 9:36219940-36219940
47 GNE NM_005476.7(GNE):c.1571C>T (p.Ala524Val) SNV Pathogenic/Likely pathogenic 424619 rs764698870 GRCh37: 9:36222836-36222836
GRCh38: 9:36222839-36222839
48 GNE NM_005476.7(GNE):c.2086G>A (p.Val696Met) SNV Pathogenic/Likely pathogenic 6028 rs121908627 GRCh37: 9:36217445-36217445
GRCh38: 9:36217448-36217448
49 GNE NM_005476.7(GNE):c.647T>C (p.Val216Ala) SNV Pathogenic/Likely pathogenic 218297 rs779694939 GRCh37: 9:36236951-36236951
GRCh38: 9:36236954-36236954
50 GNE NM_005476.7(GNE):c.527A>T (p.Asp176Val) SNV Pathogenic/Likely pathogenic 41233 rs139425890 GRCh37: 9:36246117-36246117
GRCh38: 9:36246120-36246120

UniProtKB/Swiss-Prot genetic disease variations for Nonaka Myopathy:

72 (show all 33)
# Symbol AA change Variation ID SNP ID
1 GNE p.Pro36Leu VAR_017945
2 GNE p.Ile200Phe VAR_017946 rs369328625
3 GNE p.Asp225Asn VAR_017947 rs121908630
4 GNE p.Arg246Gln VAR_017948 rs121908629
5 GNE p.Arg246Trp VAR_017949 rs773729410
6 GNE p.Cys303Val VAR_017953 rs121908633
7 GNE p.Asp378Tyr VAR_017954 rs199877522
8 GNE p.Ala460Val VAR_017955 rs121908631
9 GNE p.Ala524Val VAR_017956 rs764698870
10 GNE p.Phe528Cys VAR_017957 rs986773986
11 GNE p.Ile557Thr VAR_017958 rs886043979
12 GNE p.Val572Leu VAR_017959 rs121908632
13 GNE p.Gly576Glu VAR_017960 rs121908625
14 GNE p.Ile587Thr VAR_017961 rs748949603
15 GNE p.Ala631Thr VAR_017962 rs121908626
16 GNE p.Ala631Val VAR_017963 rs62541771
17 GNE p.Tyr675His VAR_017964 rs119185786
18 GNE p.Val696Met VAR_017965 rs121908627
19 GNE p.Met712Thr VAR_017966 rs28937594
20 GNE p.Pro27Ser VAR_021771 rs155466406
21 GNE p.His132Gln VAR_021772
22 GNE p.Arg162Cys VAR_021773 rs769215411
23 GNE p.Met171Val VAR_021774 rs121908634
24 GNE p.Asp176Val VAR_021775 rs139425890
25 GNE p.Arg177Cys VAR_021776 rs539332585
26 GNE p.Gly206Ser VAR_021777 rs766266918
27 GNE p.Val216Ala VAR_021778 rs779694939
28 GNE p.Arg306Gln VAR_021779 rs145578516
29 GNE p.Val331Ala VAR_021780
30 GNE p.Ile472Thr VAR_021781
31 GNE p.Asn519Ser VAR_021782 rs155465891
32 GNE p.Ala600Thr VAR_021783 rs387906347
33 GNE p.Ala630Thr VAR_021784 rs138219164

Expression for Nonaka Myopathy

Search GEO for disease gene expression data for Nonaka Myopathy.

Pathways for Nonaka Myopathy

Pathways related to Nonaka Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Nonaka Myopathy

Cellular components related to Nonaka Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.03 VCP UNC45B UBE4B UBE4A TARDBP SQSTM1
2 extracellular exosome GO:0070062 9.97 VCP SQSTM1 SERPINA3 PODXL NAGK DYSF
3 sarcomere GO:0030017 9.43 SQSTM1 MYH2 ACTN1
4 costamere GO:0043034 9.4 FLNC DAG1
5 pseudopodium GO:0031143 9.37 LDB3 ACTN1
6 Z disc GO:0030018 9.26 MYOT LDB3 FLNC ACTN1
7 sarcolemma GO:0042383 8.92 MYOT FLNC DYSF DAG1

Biological processes related to Nonaka Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 9.56 VCP UBE4B UBE4A SQSTM1
2 axon regeneration GO:0031103 9.16 DAG1 CHL1
3 muscle contraction GO:0006936 9.13 MYOT MYH2 DYSF
4 ubiquitin-dependent ERAD pathway GO:0030433 8.8 VCP UBE4B UBE4A

Molecular functions related to Nonaka Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 VCP UNC45B UBE4B UBE4A TARDBP SQSTM1
2 alpha-actinin binding GO:0051393 9.32 MYOT DAG1
3 ubiquitin-ubiquitin ligase activity GO:0034450 9.26 UBE4B UBE4A
4 vinculin binding GO:0017166 9.16 DAG1 ACTN1
5 actin binding GO:0003779 9.1 MYOT MYH2 LDB3 FLNC DAG1 ACTN1

Sources for Nonaka Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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