NM
MCID: NNK001
MIFTS: 40

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 57 59 75 29 13 55 6 73
Gne Myopathy 57 59 75 6
Nonaka Distal Myopathy 57 75 37
Inclusion Body Myopathy, Hereditary, Autosomal Recessive 57 75
Myopathy, Distal, with or Without Rimmed Vacuoles 57 75
Inclusion Body Myopathy, Quadriceps-Sparing 57 75
Hibm 57 75
Ibm2 59 75
Qsm 57 75
Nm 57 75
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 75
Inclusion Body Myopathy, Autosomal Recessive 73
Hereditary Inclusion Body Myopathy Type 2 59
Myopathy, Distal, with Rimmed Vacuoles 75
Distal Myopathy with Rimmed Vacuoles 59
Myopathy, Inclusion Body, Type 2 40
Inclusion Body Myopathy Type 2 59
Distal Myopathy, Nonaka Type 59
Quadriceps-Sparing Myopathy 59
Myopathy, Nonaka ) 40
Ibm2, Formerly 57
Hibm2 59
Dmrv 59

Characteristics:

Orphanet epidemiological data:

59
gne myopathy
Inheritance: Autosomal recessive; Prevalence: 6-9/10000; Age of onset: Adolescent,Adult,Elderly;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nonaka myopathy:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 605820
Orphanet 59 ORPHA602
MESH via Orphanet 45 C536816
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 74 C1853926 C1833373
MedGen 42 C1853926
KEGG 37 H00596
SNOMED-CT via HPO 69 258211005 22325002 249942005

Summaries for Nonaka Myopathy

UniProtKB/Swiss-Prot : 75 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 Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are rimmed vacuoles and hypothyroidism

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nonaka Myopathy:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rimmed vacuoles 59 32 Very frequent (99-80%) HP:0003805
2 hypothyroidism 59 Frequent (79-30%)
3 gait disturbance 32 HP:0001288
4 muscle weakness 59 Occasional (29-5%)
5 facial palsy 59 Occasional (29-5%)
6 elevated serum creatine phosphokinase 32 HP:0003236
7 cardiomyopathy 59 Very rare (<4-1%)
8 emg: myopathic abnormalities 59 Frequent (79-30%)
9 scapular winging 59 Occasional (29-5%)
10 mildly elevated creatine phosphokinase 59 Very frequent (99-80%)
11 increased variability in muscle fiber diameter 59 Frequent (79-30%)
12 foot dorsiflexor weakness 59 Very frequent (99-80%)
13 lower limb muscle weakness 59 Very frequent (99-80%)
14 abnormality of the foot musculature 59 Occasional (29-5%)
15 distal muscle weakness 32 HP:0002460
16 steppage gait 59 Frequent (79-30%)
17 deposits immunoreactive to beta-amyloid protein 32 HP:0003791
18 tibialis muscle weakness 59 Very frequent (99-80%)
19 limited shoulder movement 59 Frequent (79-30%)
20 quadriceps muscle weakness 59 Excluded (0%)
21 lower limb amyotrophy 59 Occasional (29-5%)
22 absent achilles reflex 59 Frequent (79-30%)
23 distal amyotrophy 32 HP:0003693
24 shoulder girdle muscle weakness 59 Frequent (79-30%)
25 fatty replacement of skeletal muscle 59 Very frequent (99-80%)
26 shoulder girdle muscle atrophy 59 Occasional (29-5%)
27 limited wrist extension 59 Frequent (79-30%)
28 hip flexor weakness 59 Frequent (79-30%)
29 emg: positive sharp waves 59 Frequent (79-30%)
30 emg: myotonic discharges 59 Frequent (79-30%)
31 weakness of long finger extensor muscles 59 Very rare (<4-1%)
32 muscle fiber inclusion bodies 59 Very frequent (99-80%)
33 abnormality of the right hemidiaphragm 59 Occasional (29-5%)
34 emg 32 HP:0003458

Drugs & Therapeutics for Nonaka Myopathy

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucosamine Approved, Investigational Phase 3,Phase 2 3416-24-8 439213
2 Immunologic Factors Phase 1
3 Immunoglobulins, Intravenous Phase 1
4 gamma-Globulins Phase 1
5 Immunoglobulins Phase 1
6 Antibodies Phase 1
7 Rho(D) Immune Globulin 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 Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy 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 1, 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 29 GNE

Anatomical Context for Nonaka Myopathy

MalaCards organs/tissues related to Nonaka Myopathy:

41
Skeletal Muscle

Publications for Nonaka Myopathy

Articles related to Nonaka Myopathy:

(show all 44)
# Title Authors Year
1
An Unusual Pattern of Muscular Atrophy In A Case of GNE Myopathy Presenting with Low Back Pain. ( 30277914 )
2018
2
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. ( 30160005 )
2018
3
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. ( 30192030 )
2018
4
GNE Myopathy with Prominent Axial Muscle Involvement. ( 30198236 )
2018
5
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. ( 30338442 )
2018
6
Fighting the Cause of Alzheimer's and GNE Myopathy. ( 30374284 )
2018
7
GNE myopathy in Chinese population: hotspot and novel mutations. ( 30390020 )
2018
8
Abdominal muscle weakness as a presenting symptom in GNE myopathy. ( 30401567 )
2018
9
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy. ( 30467490 )
2018
10
Bayesian model of disease progression in GNE myopathy. ( 30511500 )
2018
11
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
12
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. ( 29307446 )
2018
13
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. ( 29480215 )
2018
14
Quantification of lectin fluorescence in GNE myopathy muscle biopsies. ( 29603301 )
2018
15
GNE myopathy: from clinics and genetics to pathology and research strategies. ( 29720219 )
2018
16
Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease. ( 28637129 )
2018
17
Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale. ( 29139300 )
2018
18
GNE myopathy in a Chinese male with a novel homozygous mutation. ( 28284578 )
2017
19
A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene. ( 28320138 )
2017
20
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. ( 28505249 )
2017
21
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. ( 28641925 )
2017
22
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. ( 28717665 )
2017
23
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy. ( 28827485 )
2017
24
Granuloma formation in a patient with GNE myopathy: A case report. ( 27919547 )
2017
25
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. ( 28099567 )
2017
26
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. ( 28267778 )
2017
27
Beevor's sign: a potential clinical marker for GNE myopathy. ( 27431025 )
2016
28
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
29
GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology. ( 27854221 )
2016
30
Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy. ( 26968811 )
2016
31
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation. ( 27298745 )
2016
32
GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis. ( 25976366 )
2016
33
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. ( 26231298 )
2015
34
GNE Myopathy: Two Clusters with History and Several Founder Mutations. ( 27858758 )
2015
35
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. ( 27858732 )
2015
36
GNE myopathy: a prospective natural history study of disease progression. ( 24656604 )
2014
37
Two recurrent mutations are associated with GNE myopathy in the North of Britain. ( 24695763 )
2014
38
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. ( 25062695 )
2014
39
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy. ( 25123033 )
2014
40
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. ( 25257349 )
2014
41
Nationwide patient registry for GNE myopathy in Japan. ( 25303967 )
2014
42
GNE myopathy: a personal trip from bedside observation to therapeutic trials. ( 25709382 )
2014
43
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. ( 23122659 )
2012
44
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). ( 11916006 )
2002

Variations for Nonaka Myopathy

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

75 (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
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

ClinVar genetic disease variations for Nonaka Myopathy:

6 (show top 50) (show all 191)
# 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.79C> T (p.Arg27Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs794727279 GRCh37 Chromosome 9, 36249367: 36249367
36 GNE NM_001128227.2(GNE): c.79C> T (p.Arg27Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs794727279 GRCh38 Chromosome 9, 36249370: 36249370
37 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh37 Chromosome 9, 36246044: 36246044
38 GNE NM_001128227.2(GNE): c.693C> T (p.Ile231=) single nucleotide variant Benign rs7047950 GRCh38 Chromosome 9, 36246047: 36246047
39 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
40 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh38 Chromosome 9, 36236865: 36236865
41 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
42 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh37 Chromosome 9, 36236951: 36236951
43 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh37 Chromosome 9, 36218198: 36218198
44 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh38 Chromosome 9, 36218201: 36218201
45 GNE NM_005476.5(GNE): c.1281+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201025841 GRCh37 Chromosome 9, 36227239: 36227239
46 GNE NM_005476.5(GNE): c.1281+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs201025841 GRCh38 Chromosome 9, 36227242: 36227242
47 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh37 Chromosome 9, 36227394: 36227394
48 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh38 Chromosome 9, 36227397: 36227397
49 GNE NM_005476.5(GNE): c.1267A> G (p.Ile423Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35638832 GRCh37 Chromosome 9, 36227259: 36227259
50 GNE NM_005476.5(GNE): c.1267A> G (p.Ile423Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35638832 GRCh38 Chromosome 9, 36227262: 36227262

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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