NM
MCID: NNK001
MIFTS: 45

Nonaka Myopathy (NM)

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

Aliases & Classifications for Nonaka Myopathy

MalaCards integrated aliases for Nonaka Myopathy:

Name: Nonaka Myopathy 56 58 73 13 54 71
Gne Myopathy 56 58 73 29 6
Nonaka Distal Myopathy 56 73 36
Inclusion Body Myopathy, Hereditary, Autosomal Recessive 56 73
Myopathy, Distal, with or Without Rimmed Vacuoles 56 73
Inclusion Body Myopathy, Quadriceps-Sparing 56 73
Hibm 56 73
Ibm2 58 73
Qsm 56 73
Nm 56 73
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly; Ibm2, Formerly 56
Inclusion Body Myopathy, Hereditary, Autosomal Recessive; Hibm 56
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly 56
Inclusion Body Myopathy, Quadriceps-Sparing; Qsm 56
Inclusion Body Myopathy 2, Autosomal Recessive 73
Inclusion Body Myopathy, Autosomal Recessive 71
Hereditary Inclusion Body Myopathy Type 2 58
Myopathy, Distal, with Rimmed Vacuoles 73
Distal Myopathy with Rimmed Vacuoles 58
Inclusion Body Myopathy Type 2 58
Distal Myopathy, Nonaka Type 58
Quadriceps-Sparing Myopathy 58
Myopathy, Nonaka 39
Ibm2, Formerly 56
Hibm2 58
Dmrv 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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


Classifications:

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


External Ids:

OMIM 56 605820
KEGG 36 H00596
MESH via Orphanet 44 C536816
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 72 C1833373 C1853926
Orphanet 58 ORPHA602
MedGen 41 C1853926
UMLS 71 C1833373 C1853926

Summaries for Nonaka Myopathy

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.

MalaCards based summary : Nonaka Myopathy, also known as gne myopathy, is related to inclusion body myositis and myopathy. 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, bone and ovary, and related phenotypes are rimmed vacuoles and foot dorsiflexor weakness

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 605820

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 80)
# Related Disease Score Top Affiliating Genes
1 inclusion body myositis 32.4 SQSTM1 GNE
2 myopathy 29.7 SQSTM1 GNE
3 frontotemporal dementia 29.5 SQSTM1 GNE
4 paget's disease of bone 29.5 SQSTM1 GNE
5 gne-related myopathy 11.9
6 myopathy, distal, with rimmed vacuoles 11.7
7 myopathy, myofibrillar, 9, with early respiratory failure 11.4
8 hereditary proximal myopathy with early respiratory failure 11.2
9 foot drop 10.5
10 autosomal recessive disease 10.5
11 myositis 10.4
12 muscular dystrophy 10.4
13 oculopharyngodistal myopathy 1 10.3
14 polymyositis 10.3
15 autosomal dominant distal myopathy 10.3
16 autosomal recessive distal myopathy 10.3
17 48,xyyy 10.3
18 huntington disease 10.2
19 hemosiderosis 10.2
20 rare hereditary hemochromatosis 10.2
21 sialuria 10.2
22 miyoshi muscular dystrophy 10.2
23 neuromuscular disease 10.2
24 atrial standstill 1 10.2
25 cardiomyopathy, familial restrictive, 1 10.2
26 oculopharyngeal muscular dystrophy 10.2
27 paget disease of bone 3 10.2
28 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.2
29 ceroid storage disease 10.2
30 marinesco-sjogren syndrome 10.2
31 proteasome-associated autoinflammatory syndrome 1 10.2
32 reducing body myopathy, x-linked 1b, with late childhood or adult onset 10.2
33 tibial muscular dystrophy, tardive 10.2
34 myotonic dystrophy 2 10.2
35 neuronal ceroid-lipofuscinoses 10.2
36 atrioventricular block 10.2
37 reducing body myopathy 10.2
38 endomyocardial fibrosis 10.2
39 neuronal ceroid lipofuscinosis 10.2
40 restrictive cardiomyopathy 10.2
41 peripheral nervous system disease 10.2
42 congestive heart failure 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 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 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
3 tibialis muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0008963
4 fatty replacement of skeletal muscle 58 31 hallmark (90%) Very frequent (99-80%) HP:0012548
5 muscle fiber inclusion bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0100299
6 mildly elevated creatine kinase 31 hallmark (90%) HP:0008180
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 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
10 steppage gait 58 31 frequent (33%) Frequent (79-30%) HP:0003376
11 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
12 limited shoulder movement 58 31 frequent (33%) Frequent (79-30%) HP:0006467
13 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
14 limited wrist extension 58 31 frequent (33%) Frequent (79-30%) HP:0006251
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 abnormality of the foot musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001436
21 lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007210
22 shoulder girdle muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003724
23 abnormality of the right hemidiaphragm 58 31 occasional (7.5%) Occasional (29-5%) 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 mildly elevated creatine phosphokinase 58 Very frequent (99-80%)
30 distal amyotrophy 31 HP:0003693
31 lower limb muscle weakness 58 Very frequent (99-80%)
32 distal muscle weakness 31 HP:0002460
33 deposits immunoreactive to beta-amyloid protein 31 HP:0003791
34 quadriceps muscle weakness 58 Excluded (0%)
35 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
distal muscle weakness
deposits immunoreactive to beta-amyloid protein
distal muscle atrophy
myopathic changes seen on emg
hamstring muscle affected
more
Laboratory Abnormalities:
increased creatine phosphokinase (cpk)

Neurologic Central Nervous System:
gait abnormalities

Clinical features from OMIM:

605820

Drugs & Therapeutics for Nonaka Myopathy

Drugs for Nonaka 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 Rho(D) Immune Globulin Phase 1
4 Immunoglobulin G Phase 1
5 Antibodies Phase 1
6 gamma-Globulins Phase 1
7 Immunoglobulins Phase 1
8 Immunoglobulins, Intravenous Phase 1
9 Immunologic Factors Phase 1

Interventional clinical trials:

(show all 16)
# 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 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 A Phase 2 Study to Evaluate the Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Related Thrombocytopenia Completed NCT02845609 Phase 2 Sialic Acid-Extended Release
7 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
8 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
9 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
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 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
12 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
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 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
16 International GNE Myopathy Patient Registry (GNE001) Recruiting NCT04009226

Search NIH Clinical Center for Nonaka Myopathy

Genetic Tests for Nonaka Myopathy

Genetic tests related to Nonaka Myopathy:

# Genetic test Affiliating Genes
1 Gne Myopathy 29 GNE

Anatomical Context for Nonaka Myopathy

MalaCards organs/tissues related to Nonaka Myopathy:

40
Skeletal Muscle, Bone, Ovary, Myeloid

Publications for Nonaka Myopathy

Articles related to Nonaka Myopathy:

(show top 50) (show all 152)
# Title Authors PMID Year
1
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). 61 6 56 54
11916006 2002
2
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. 6 56
16372135 2006
3
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. 6 56
12743242 2003
4
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. 56 6
12473769 2002
5
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. 6 56
12473780 2002
6
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 6 56
12177386 2002
7
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 56 6
11528398 2001
8
GNE myopathy: new name and new mutation nomenclature. 56 61
24685570 2014
9
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
10
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 6
26208961 2015
11
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. 56
20644153 2010
12
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. 56
19448634 2009
13
Mitochondrial processes are impaired in hereditary inclusion body myopathy. 56
18723858 2008
14
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 56
17704511 2007
15
GNE protein expression and subcellular distribution are unaltered in HIBM. 56
17698786 2007
16
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. 56
16534119 2006
17
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 6
15136692 2004
18
GNE-Related Myopathy 6
20301439 2004
19
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 56
12913203 2003
20
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 56
12847185 2003
21
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. 56
12473753 2002
22
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 6
12374763 2002
23
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. 6
12325084 2002
24
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13. 56
11464241 2001
25
Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy). 56
11721884 2001
26
Fine-structure mapping of the hereditary inclusion body myopathy locus. 56
9888997 1999
27
Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. 56
9124799 1997
28
Hereditary inclusion body myopathy maps to chromosome 9p1-q1. 56
8789455 1996
29
Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy. 56
7654077 1995
30
Hereditary disorders among Iranian Jews. 56
7573153 1995
31
Muscle fiber degeneration in distal myopathy with rimmed vacuole formation. 56
7709728 1995
32
Vacuolar myopathy sparing the quadriceps. 56
8453459 1993
33
Familial inclusion body myositis among Kurdish-Iranian Jews. 56
1850594 1991
34
"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. 56
6737002 1984
35
Occurrence of four types of growth hormone-related dwarfism in Israeli communities. 56
7274298 1981
36
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. 56
7252518 1981
37
Crystal structure of the N-acetylmannosamine kinase domain of GNE. 61 54
19841673 2009
38
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. 61 54
18555875 2008
39
[Distal myopathies]. 61 54
15034479 2004
40
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. 54 61
14561743 2003
41
GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics. 61
31787465 2019
42
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation. 61
31691999 2019
43
Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy. 61
31616990 2019
44
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases. 61
31701055 2019
45
Targeting GNE Myopathy: A Dual Prodrug Approach for the Delivery of N-Acetylmannosamine 6-Phosphate. 61
31386361 2019
46
The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care. 61
31744945 2019
47
Progression of GNE Myopathy Based on the Patient-Reported Outcome. 61
31286697 2019
48
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. 61
30990900 2019
49
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient. 61
31135625 2019
50
237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. 61
30956020 2019

Variations for Nonaka Myopathy

ClinVar genetic disease variations for Nonaka Myopathy:

6 (show top 50) (show all 202) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNE NM_005476.7(GNE):c.165-8G>ASNV Affects 619300 rs918998080 9:36246487-36246487 9:36246490-36246490
2 GNE NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)SNV Pathogenic 552288 rs747199032 9:36227268-36227268 9:36227271-36227271
3 GNE NM_005476.7(GNE):c.22C>T (p.Arg8Ter)SNV Pathogenic 552994 rs766420673 9:36249331-36249331 9:36249334-36249334
4 GNE NM_005476.7(GNE):c.2135T>C (p.Met712Thr)SNV Pathogenic 6025 rs28937594 9:36217396-36217396 9:36217399-36217399
5 GNE NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)SNV Pathogenic 6026 rs121908625 9:36219924-36219924 9:36219927-36219927
6 GNE NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)SNV Pathogenic 6027 rs121908626 9:36218222-36218222 9:36218225-36218225
7 GNE NM_005476.7(GNE):c.909T>A (p.Cys303Ter)SNV Pathogenic 6029 rs121908628 9:36233990-36233990 9:36233993-36233993
8 GNE NM_005476.7(GNE):c.1714G>C (p.Val572Leu)SNV Pathogenic 6033 rs121908632 9:36219937-36219937 9:36219940-36219940
9 GNE NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val)indel Pathogenic 6034 rs121908633 9:36233991-36233992 9:36233994-36233995
10 GNE NM_005476.7(GNE):c.1892C>T (p.Ala631Val)SNV Pathogenic 6035 rs62541771 9:36218221-36218221 9:36218224-36218224
11 GNE NM_005476.7(GNE):c.511A>G (p.Met171Val)SNV Pathogenic 6036 rs121908634 9:36246133-36246133 9:36246136-36246136
12 SQSTM1 NM_003900.5(SQSTM1):c.1165+1G>ASNV Pathogenic 8110 rs796051870 5:179260783-179260783 5:179833783-179833783
13 GNE NM_005476.7(GNE):c.736C>T (p.Arg246Trp)SNV Pathogenic 197184 rs773729410 9:36236862-36236862 9:36236865-36236865
14 GNE NM_005476.7(GNE):c.175C>T (p.Arg59Ter)SNV Pathogenic 285936 rs745517517 9:36246469-36246469 9:36246472-36246472
15 GNE NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)SNV Pathogenic 286439 rs757523840 9:36218269-36218269 9:36218272-36218272
16 GNE deletion Pathogenic 438624 9:36259402-36266483 9:36259405-36266486
17 GNE NM_005476.7(GNE):c.38G>C (p.Cys13Ser)SNV Pathogenic 496947 rs1209266607 9:36249315-36249315 9:36249318-36249318
18 GNE NM_005476.7(GNE):c.1571C>T (p.Ala524Val)SNV Pathogenic/Likely pathogenic 424619 rs764698870 9:36222836-36222836 9:36222839-36222839
19 GNE NM_005476.7(GNE):c.484C>T (p.Arg162Cys)SNV Pathogenic/Likely pathogenic 290196 rs769215411 9:36246160-36246160 9:36246163-36246163
20 GNE NM_005476.7(GNE):c.1686del (p.Cys563fs)deletion Pathogenic/Likely pathogenic 290423 rs886044449 9:36219965-36219965 9:36219968-36219968
21 GNE NM_005476.7(GNE):c.4G>T (p.Glu2Ter)SNV Pathogenic/Likely pathogenic 290631 rs886044514 9:36249349-36249349 9:36249352-36249352
22 GNE NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)SNV Pathogenic/Likely pathogenic 283278 rs199877522 9:36227394-36227394 9:36227397-36227397
23 GNE NM_005476.7(GNE):c.647T>C (p.Val216Ala)SNV Pathogenic/Likely pathogenic 218297 rs779694939 9:36236951-36236951 9:36236954-36236954
24 GNE NM_005476.7(GNE):c.386G>A (p.Arg129Gln)SNV Pathogenic/Likely pathogenic 189156 rs748704459 9:36246258-36246258 9:36246261-36246261
25 GNE NM_005476.7(GNE):c.527A>T (p.Asp176Val)SNV Pathogenic/Likely pathogenic 41233 rs139425890 9:36246117-36246117 9:36246120-36246120
26 GNE NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)SNV Pathogenic/Likely pathogenic 188882 rs748949603 9:36219891-36219891 9:36219894-36219894
27 GNE NM_005476.7(GNE):c.829C>T (p.Arg277Cys)SNV Pathogenic/Likely pathogenic 188847 rs762106720 9:36234070-36234070 9:36234073-36234073
28 GNE NM_005476.7(GNE):c.737G>A (p.Arg246Gln)SNV Pathogenic/Likely pathogenic 6030 rs121908629 9:36236861-36236861 9:36236864-36236864
29 GNE NM_005476.7(GNE):c.2086G>A (p.Val696Met)SNV Pathogenic/Likely pathogenic 6028 rs121908627 9:36217445-36217445 9:36217448-36217448
30 GNE NM_005476.7(GNE):c.616+1deldeletion Pathogenic/Likely pathogenic 553323 rs1554663295 9:36246026-36246027 9:36246030-36246030
31 GNE NM_005476.7(GNE):c.572C>G (p.Ser191Ter)SNV Likely pathogenic 551056 rs1357906793 9:36246072-36246072 9:36246075-36246075
32 GNE NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)SNV Likely pathogenic 553431 rs1554657922 9:36217409-36217409 9:36217412-36217412
33 GNE NM_005476.7(GNE):c.1740del (p.Cys581fs)deletion Likely pathogenic 551069 rs1554658453 9:36219910-36219911 9:36219914-36219914
34 GNE NM_005476.7(GNE):c.1525C>T (p.His509Tyr)SNV Likely pathogenic 553974 rs754892377 9:36222882-36222882 9:36222885-36222885
35 GNE NM_005476.7(GNE):c.680dup (p.His228fs)duplication Likely pathogenic 557458 rs1554661552 9:36236917-36236917 9:36236921-36236921
36 GNE NM_005476.7(GNE):c.640del (p.Tyr214fs)deletion Likely pathogenic 553819 rs1554661561 9:36236957-36236958 9:36236961-36236961
37 GNE NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)SNV Likely pathogenic 555637 rs1554664090 9:36249358-36249358 9:36249361-36249361
38 GNE NM_005476.7(GNE):c.529C>T (p.Arg177Cys)SNV Likely pathogenic 553400 rs539332585 9:36246115-36246115 9:36246118-36246118
39 GNE NM_005476.7(GNE):c.80C>T (p.Pro27Leu)SNV Likely pathogenic 551266 rs1236647498 9:36249273-36249273 9:36249276-36249276
40 GNE NM_005476.7(GNE):c.445G>T (p.Ala149Ser)SNV Likely pathogenic 617538 rs1563946658 9:36246199-36246199 9:36246202-36246202
41 GNE NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)SNV Likely pathogenic 188916 rs786204558 9:36223475-36223475 9:36223478-36223478
42 GNE NM_005476.7(GNE):c.79C>T (p.Pro27Ser)SNV Likely pathogenic 464102 rs1554664064 9:36249274-36249274 9:36249277-36249277
43 GNE NM_005476.7(GNE):c.893T>C (p.Ile298Thr)SNV Likely pathogenic 498387 rs757091387 9:36234006-36234006 9:36234009-36234009
44 GNE NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)SNV Likely pathogenic 556674 rs1554658910 9:36222851-36222851 9:36222854-36222854
45 GNE NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)SNV Likely pathogenic 553715 rs1212623980 9:36222922-36222922 9:36222925-36222925
46 GNE NM_005476.7(GNE):c.388del (p.Ile130fs)deletion Likely pathogenic 552473 rs1423445315 9:36246255-36246256 9:36246259-36246259
47 GNE NM_005476.7(GNE):c.630dup (p.Ser211fs)duplication Likely pathogenic 551363 rs1554661569 9:36236967-36236967 9:36236971-36236971
48 GNE NM_005476.7(GNE):c.31C>T (p.Arg11Trp)SNV Likely pathogenic 550820 rs769716748 9:36249322-36249322 9:36249325-36249325
49 GNE NM_005476.7(GNE):c.1781del (p.Met594fs)deletion Likely pathogenic 371291 rs1057517157 9:36219870-36219870 9:36219873-36219873
50 GNE NM_005476.7(GNE):c.1609_1616del (p.Phe537fs)deletion Likely pathogenic 370240 rs1057516340 9:36222791-36222798 9:36222794-36222801

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

73 (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

Sources for Nonaka Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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