NM
MCID: NNK001
MIFTS: 43

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 58 60 76 30 13 56 6 74
Gne Myopathy 58 60 76 30 6
Nonaka Distal Myopathy 58 76 38
Inclusion Body Myopathy, Hereditary, Autosomal Recessive 58 76
Myopathy, Distal, with or Without Rimmed Vacuoles 58 76
Inclusion Body Myopathy, Quadriceps-Sparing 58 76
Hibm 58 76
Ibm2 60 76
Qsm 58 76
Nm 58 76
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly; Ibm2, Formerly 58
Inclusion Body Myopathy, Hereditary, Autosomal Recessive; Hibm 58
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly 58
Inclusion Body Myopathy, Quadriceps-Sparing; Qsm 58
Inclusion Body Myopathy 2, Autosomal Recessive 76
Inclusion Body Myopathy, Autosomal Recessive 74
Hereditary Inclusion Body Myopathy Type 2 60
Myopathy, Distal, with Rimmed Vacuoles 76
Distal Myopathy with Rimmed Vacuoles 60
Myopathy, Inclusion Body, Type 2 41
Inclusion Body Myopathy Type 2 60
Distal Myopathy, Nonaka Type 60
Quadriceps-Sparing Myopathy 60
Myopathy, Nonaka ) 41
Ibm2, Formerly 58
Hibm2 60
Dmrv 60

Characteristics:

Orphanet epidemiological data:

60
gne myopathy
Inheritance: Autosomal recessive; Prevalence: 6-9/10000; Age of onset: Adolescent,Adult,Elderly;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
nonaka myopathy:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 605820
KEGG 38 H00596
MESH via Orphanet 46 C536816
ICD10 via Orphanet 35 G71.8
UMLS via Orphanet 75 C1833373 C1853926
Orphanet 60 ORPHA602
MedGen 43 C1853926

Summaries for Nonaka Myopathy

UniProtKB/Swiss-Prot : 76 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.

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

Description from OMIM: 605820

Related Diseases for Nonaka Myopathy

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rimmed vacuoles 60 33 hallmark (90%) Very frequent (99-80%) HP:0003805
2 foot dorsiflexor weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009027
3 tibialis muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0008963
4 fatty replacement of skeletal muscle 60 33 hallmark (90%) Very frequent (99-80%) HP:0012548
5 muscle fiber inclusion bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0100299
6 mildly elevated creatine kinase 33 hallmark (90%) HP:0008180
7 hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000821
8 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
9 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
10 steppage gait 60 33 frequent (33%) Frequent (79-30%) HP:0003376
11 absent achilles reflex 60 33 frequent (33%) Frequent (79-30%) HP:0003438
12 limited shoulder movement 60 33 frequent (33%) Frequent (79-30%) HP:0006467
13 shoulder girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003547
14 limited wrist extension 60 33 frequent (33%) Frequent (79-30%) HP:0006251
15 hip flexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0012515
16 emg: positive sharp waves 60 33 frequent (33%) Frequent (79-30%) HP:0030007
17 emg: myotonic discharges 60 33 frequent (33%) Frequent (79-30%) HP:0100284
18 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
19 scapular winging 60 33 occasional (7.5%) Occasional (29-5%) HP:0003691
20 lower limb amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007210
21 shoulder girdle muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003724
22 abnormality of the right hemidiaphragm 60 33 occasional (7.5%) Occasional (29-5%) HP:0040047
23 cardiomyopathy 60 33 very rare (1%) Very rare (<4-1%) HP:0001638
24 weakness of long finger extensor muscles 60 33 very rare (1%) Very rare (<4-1%) HP:0009077
25 gait disturbance 33 HP:0001288
26 muscle weakness 60 Occasional (29-5%)
27 mildly elevated creatine phosphokinase 60 Very frequent (99-80%)
28 lower limb muscle weakness 60 Very frequent (99-80%)
29 abnormality of the foot musculature 60 Occasional (29-5%)
30 distal muscle weakness 33 HP:0002460
31 deposits immunoreactive to beta-amyloid protein 33 HP:0003791
32 quadriceps muscle weakness 60 Excluded (0%)
33 distal amyotrophy 33 HP:0003693
34 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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,Phase 2 3416-24-8 439213
2
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
3 Immunoglobulins, Intravenous Phase 1
4 Immunoglobulin G Phase 1
5 Immunoglobulins Phase 1
6 Rho(D) Immune Globulin Phase 1
7 gamma-Globulins Phase 1
8 Immunologic Factors Phase 1
9 Antibodies Phase 1

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
3 A Phase 2 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 of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
6 A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
7 Efficacy of Sialic Acid GNE Related Thrombocytopenia Completed NCT02845609 Phase 2 Sialic Acid-Extended Release
8 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
9 Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
10 Safety and Pharmacokinetics of Sialic Acid 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
11 Pharmacokinetic Study on N-acetylneuraminic Acid Completed NCT01236898 Phase 1 NPC-09
12 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)
13 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
14 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
15 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
16 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 Not Applicable

Search NIH Clinical Center for Nonaka Myopathy

Genetic Tests for Nonaka Myopathy

Genetic tests related to Nonaka Myopathy:

# Genetic test Affiliating Genes
1 Nonaka Myopathy 30 GNE
2 Gne Myopathy 30

Anatomical Context for Nonaka Myopathy

MalaCards organs/tissues related to Nonaka Myopathy:

42
Skeletal Muscle, Brain

Publications for Nonaka Myopathy

Articles related to Nonaka Myopathy:

(show top 50) (show all 84)
# Title Authors Year
1
An Unusual Pattern of Muscular Atrophy in a Case of GNE Myopathy Presenting With Low Back Pain. ( 30277914 )
2019
2
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. ( 30990900 )
2019
3
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. ( 31036580 )
2019
4
Bayesian model of disease progression in GNE myopathy. ( 30511500 )
2019
5
GNE genotype explains 20% of phenotypic variability in GNE myopathy. ( 30842975 )
2019
6
237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. ( 30956020 )
2019
7
Abdominal muscle weakness as a presenting symptom in GNE myopathy. ( 30401567 )
2019
8
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy. ( 30467490 )
2018
9
Correction: GNE myopathy in Chinese population: hotspot and novel mutations. ( 30585253 )
2018
10
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. ( 30160005 )
2018
11
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. ( 30192030 )
2018
12
GNE Myopathy with Prominent Axial Muscle Involvement. ( 30198236 )
2018
13
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. ( 30338442 )
2018
14
Fighting the Cause of Alzheimer's and GNE Myopathy. ( 30374284 )
2018
15
GNE myopathy in Chinese population: hotspot and novel mutations. ( 30390020 )
2018
16
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. ( 29305133 )
2018
17
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. ( 29307446 )
2018
18
Discordant manifestations in Italian brothers with GNE myopathy. ( 29406958 )
2018
19
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. ( 29480215 )
2018
20
Quantification of lectin fluorescence in GNE myopathy muscle biopsies. ( 29603301 )
2018
21
GNE myopathy: from clinics and genetics to pathology and research strategies. ( 29720219 )
2018
22
Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale. ( 29139300 )
2018
23
Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease. ( 28637129 )
2018
24
Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. ( 28042944 )
2017
25
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. ( 28641925 )
2017
26
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. ( 28717665 )
2017
27
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy. ( 28827485 )
2017
28
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. ( 28099567 )
2017
29
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. ( 28267778 )
2017
30
GNE myopathy in a Chinese male with a novel homozygous mutation. ( 28284578 )
2017
31
A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene. ( 28320138 )
2017
32
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. ( 28505249 )
2017
33
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. ( 27829678 )
2017
34
Granuloma formation in a patient with GNE myopathy: A case report. ( 27919547 )
2017
35
The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant. ( 27023225 )
2017
36
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study. ( 27854209 )
2016
37
GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology. ( 27854221 )
2016
38
Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy. ( 26968811 )
2016
39
Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy. ( 27037841 )
2016
40
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation. ( 27298745 )
2016
41
Beevor's sign: a potential clinical marker for GNE myopathy. ( 27431025 )
2016
42
Genetics of GNE myopathy in the non-Jewish Persian population. ( 25966635 )
2016
43
GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis. ( 25976366 )
2016
44
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
45
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. ( 26208961 )
2015
46
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. ( 26231298 )
2015
47
GNE Myopathy: Two Clusters with History and Several Founder Mutations. ( 27858758 )
2015
48
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. ( 25986339 )
2015
49
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. ( 27858732 )
2015
50
Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts. ( 25510413 )
2015

Variations for Nonaka Myopathy

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

76 (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
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
32 GNE p.Ala600Thr VAR_021783 rs387906347
33 GNE p.Ala630Thr VAR_021784 rs138219164

ClinVar genetic disease variations for Nonaka Myopathy:

6 (show top 50) (show all 186)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
2 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh38 Chromosome 9, 36217399: 36217399
3 GNE NM_001128227.2(GNE): c.1820G> A (p.Gly607Glu) single nucleotide variant Pathogenic rs121908625 GRCh37 Chromosome 9, 36219924: 36219924
4 GNE NM_001128227.2(GNE): c.1820G> A (p.Gly607Glu) single nucleotide variant Pathogenic rs121908625 GRCh38 Chromosome 9, 36219927: 36219927
5 GNE NM_001190383.1(GNE): c.1669G> A (p.Ala557Thr) single nucleotide variant Pathogenic rs121908626 GRCh37 Chromosome 9, 36218222: 36218222
6 GNE NM_001190383.1(GNE): c.1669G> A (p.Ala557Thr) single nucleotide variant Pathogenic rs121908626 GRCh38 Chromosome 9, 36218225: 36218225
7 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
8 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh38 Chromosome 9, 36217448: 36217448
9 GNE NM_001128227.2(GNE): c.1002T> A (p.Cys334Ter) single nucleotide variant Pathogenic rs121908628 GRCh37 Chromosome 9, 36233990: 36233990
10 GNE NM_001128227.2(GNE): c.1002T> A (p.Cys334Ter) single nucleotide variant Pathogenic rs121908628 GRCh38 Chromosome 9, 36233993: 36233993
11 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh37 Chromosome 9, 36236861: 36236861
12 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh38 Chromosome 9, 36236864: 36236864
13 GNE NM_001128227.2(GNE): c.766G> A (p.Asp256Asn) single nucleotide variant Uncertain significance rs121908630 GRCh37 Chromosome 9, 36236925: 36236925
14 GNE NM_001128227.2(GNE): c.766G> A (p.Asp256Asn) single nucleotide variant Uncertain significance rs121908630 GRCh38 Chromosome 9, 36236928: 36236928
15 GNE NM_001128227.2(GNE): c.1472C> T (p.Ala491Val) single nucleotide variant Uncertain significance rs121908631 GRCh37 Chromosome 9, 36223402: 36223402
16 GNE NM_001128227.2(GNE): c.1472C> T (p.Ala491Val) single nucleotide variant Uncertain significance rs121908631 GRCh38 Chromosome 9, 36223405: 36223405
17 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
18 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh38 Chromosome 9, 36219940: 36219940
19 GNE NM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val) indel Pathogenic rs121908633 GRCh37 Chromosome 9, 36233991: 36233992
20 GNE NM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val) indel Pathogenic rs121908633 GRCh38 Chromosome 9, 36233994: 36233995
21 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
22 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh38 Chromosome 9, 36218224: 36218224
23 GNE NM_001128227.2(GNE): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908634 GRCh37 Chromosome 9, 36246133: 36246133
24 GNE NM_001128227.2(GNE): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908634 GRCh38 Chromosome 9, 36246136: 36246136
25 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
26 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh37 Chromosome 5, 179260783: 179260783
27 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
28 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh38 Chromosome 9, 36246120: 36246120
29 GNE NM_001128227.2(GNE): c.1863C> T (p.Tyr621=) single nucleotide variant Benign/Likely benign rs111302956 GRCh37 Chromosome 9, 36219881: 36219881
30 GNE NM_001128227.2(GNE): c.1863C> T (p.Tyr621=) single nucleotide variant Benign/Likely benign rs111302956 GRCh38 Chromosome 9, 36219884: 36219884
31 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
32 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh38 Chromosome 9, 36219894: 36219894
33 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
34 GNE NM_001128227.2(GNE): c.2179G> T (p.Val727Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908627 GRCh38 Chromosome 9, 36217448: 36217448
35 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh37 Chromosome 9, 36246044: 36246044
36 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh38 Chromosome 9, 36246047: 36246047
37 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
38 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh38 Chromosome 9, 36236865: 36236865
39 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
40 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh37 Chromosome 9, 36236951: 36236951
41 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh37 Chromosome 9, 36218198: 36218198
42 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh38 Chromosome 9, 36218201: 36218201
43 GNE NM_005476.5(GNE): c.1281+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201025841 GRCh37 Chromosome 9, 36227239: 36227239
44 GNE NM_005476.5(GNE): c.1281+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201025841 GRCh38 Chromosome 9, 36227242: 36227242
45 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh37 Chromosome 9, 36227394: 36227394
46 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh38 Chromosome 9, 36227397: 36227397
47 GNE NM_005476.5(GNE): c.1267A> G (p.Ile423Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35638832 GRCh37 Chromosome 9, 36227259: 36227259
48 GNE NM_005476.5(GNE): c.1267A> G (p.Ile423Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35638832 GRCh38 Chromosome 9, 36227262: 36227262
49 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh37 Chromosome 9, 36246469: 36246469
50 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh38 Chromosome 9, 36246472: 36246472

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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