MCID: NNK001
MIFTS: 35

Nonaka Myopathy

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

Aliases & Classifications for Nonaka Myopathy

MalaCards integrated aliases for Nonaka Myopathy:

Name: Nonaka Myopathy 53 55 71 28 13 51 69
Nonaka Distal Myopathy 53 71 36
Gne Myopathy 53 55 71
Inclusion Body Myopathy, Hereditary, Autosomal Recessive 53 71
Myopathy, Distal, with or Without Rimmed Vacuoles 53 71
Inclusion Body Myopathy, Quadriceps-Sparing 53 71
Hibm 53 71
Ibm2 55 71
Qsm 53 71
Nm 53 71
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly; Ibm2, Formerly 53
Inclusion Body Myopathy, Hereditary, Autosomal Recessive; Hibm 53
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly 53
Inclusion Body Myopathy, Quadriceps-Sparing; Qsm 53
Inclusion Body Myopathy 2, Autosomal Recessive 71
Inclusion Body Myopathy, Autosomal Recessive 69
Hereditary Inclusion Body Myopathy Type 2 55
Myopathy, Distal, with Rimmed Vacuoles 71
Distal Myopathy with Rimmed Vacuoles 55
Inclusion Body Myopathy Type 2 55
Distal Myopathy, Nonaka Type 55
Quadriceps-Sparing Myopathy 55
Ibm2, Formerly 53
Hibm2 55
Dmrv 55

Characteristics:

Orphanet epidemiological data:

55
gne myopathy
Inheritance: Autosomal recessive; Prevalence: 6-9/10000; Age of onset: Adolescent,Adult,Elderly;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 53 605820
Orphanet 55 ORPHA602
MESH via Orphanet 42 C536816
UMLS via Orphanet 70 C1833373 C1853926
ICD10 via Orphanet 33 G71.8
MedGen 39 C1853926
KEGG 36 H00596

Summaries for Nonaka Myopathy

UniProtKB/Swiss-Prot : 71 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 nonaka distal myopathy, is related to inclusion body myositis and gne-related myopathy, and has symptoms including hypothyroidism, facial palsy and cardiomyopathy. 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 Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

Description from OMIM: 605820

Related Diseases for Nonaka Myopathy

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

# Related Disease Score Top Affiliating Genes
1 inclusion body myositis 32.1 GNE SQSTM1
2 gne-related myopathy 31.2 GNE SQSTM1
3 myopathy 29.1 GNE SQSTM1
4 myopathy, distal, with rimmed vacuoles 11.4

Symptoms & Phenotypes for Nonaka Myopathy

Symptoms via clinical synopsis from OMIM:

53
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:

55 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 55 31 frequent (33%) Frequent (79-30%) HP:0000821
2 facial palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0010628
3 cardiomyopathy 55 31 very rare (1%) Very rare (<4-1%) HP:0001638
4 scapular winging 55 31 occasional (7.5%) Occasional (29-5%) HP:0003691
5 mildly elevated creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0008180
6 steppage gait 55 31 frequent (33%) Frequent (79-30%) HP:0003376
7 rimmed vacuoles 55 31 hallmark (90%) Very frequent (99-80%) HP:0003805
8 increased variability in muscle fiber diameter 55 31 frequent (33%) Frequent (79-30%) HP:0003557
9 shoulder girdle muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0003547
10 foot dorsiflexor weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0009027
11 absent achilles reflex 55 31 frequent (33%) Frequent (79-30%) HP:0003438
12 tibialis muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0008963
13 fatty replacement of skeletal muscle 55 31 hallmark (90%) Very frequent (99-80%) HP:0012548
14 muscle fiber inclusion bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0100299
15 limited wrist extension 55 31 frequent (33%) Frequent (79-30%) HP:0006251
16 limited shoulder movement 55 31 frequent (33%) Frequent (79-30%) HP:0006467
17 hip flexor weakness 55 31 frequent (33%) Frequent (79-30%) HP:0012515
18 shoulder girdle muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003724
19 lower limb amyotrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0007210
20 abnormality of the right hemidiaphragm 55 31 occasional (7.5%) Occasional (29-5%) HP:0040047
21 weakness of long finger extensor muscles 55 31 very rare (1%) Very rare (<4-1%) HP:0009077
22 muscle weakness 55 Occasional (29-5%)
23 lower limb muscle weakness 55 Very frequent (99-80%)
24 quadriceps muscle weakness 55 Excluded (0%)
25 gait disturbance 31 HP:0001288
26 elevated serum creatine phosphokinase 31 HP:0003236
27 distal muscle weakness 31 HP:0002460
28 deposits immunoreactive to beta-amyloid protein 31 HP:0003791
29 proximal muscle weakness 31 HP:0003701
30 emg: myopathic abnormalities 55 Frequent (79-30%)
31 distal amyotrophy 31 HP:0003693
32 emg: positive sharp waves 55 Frequent (79-30%)
33 emg: myotonic discharges 55 Frequent (79-30%)
34 abnormality of the foot musculature 55 Occasional (29-5%)
35 limb-girdle muscle weakness 31 HP:0003325
36 limb-girdle muscle atrophy 31 HP:0003797
37 emg 31 frequent (33%) HP:0003458

Drugs & Therapeutics for Nonaka Myopathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1
2 gamma-Globulins Phase 1
3 Immunoglobulins Phase 1
4 Immunoglobulins, Intravenous Phase 1
5 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 GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 Sialic Acid Tablets;Placebo Tablets
2 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Active, not recruiting 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 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy Completed NCT01830972 Phase 2 6g/day SA-ER tablets;6g/day SA-ER tablets and 6g/day SA-IR capsules;12g/day SA-ER
5 Efficacy of Sialic Acid GNE Related Thrombocytopenia Completed NCT02845609 Phase 2 Sialic Acid-Extended Release
6 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Active, not recruiting NCT02346461 Phase 1, Phase 2 ManNac.;ManNac
7 A 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 Active, not recruiting NCT02731690 Phase 2 Aceneuramic Acid Extended-Release Tablets
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 Recruiting NCT02639260 Phase 1 N-acetyl-mannosamine (ManNAc)
13 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
14 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
15 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) Recruiting NCT01784679
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) Active, not recruiting NCT02196909

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 28 GNE

Anatomical Context for Nonaka Myopathy

MalaCards organs/tissues related to Nonaka Myopathy:

38
Skeletal Muscle

Publications for Nonaka Myopathy

Articles related to Nonaka Myopathy:

# Title Authors Year
1
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:

71 (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
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 all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
2 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
3 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
4 GNE NM_001128227.2(GNE): c.479G> A (p.Arg160Gln) single nucleotide variant Pathogenic/Likely pathogenic rs748704459 GRCh37 Chromosome 9, 36246258: 36246258
5 GNE NM_001128227.2(GNE): c.829C> T (p.Arg277Trp) single nucleotide variant Pathogenic rs773729410 GRCh37 Chromosome 9, 36236862: 36236862
6 GNE NM_001128227.2(GNE): c.2228T> C (p.Met743Thr) single nucleotide variant Pathogenic rs28937594 GRCh37 Chromosome 9, 36217396: 36217396
7 GNE NM_001128227.2(GNE): c.1820G> A (p.Gly607Glu) single nucleotide variant Pathogenic rs121908625 GRCh37 Chromosome 9, 36219924: 36219924
8 GNE NM_001190383.1(GNE): c.1669G> A (p.Ala557Thr) single nucleotide variant Pathogenic rs121908626 GRCh37 Chromosome 9, 36218222: 36218222
9 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
10 GNE NM_001128227.2(GNE): c.1002T> A (p.Cys334Ter) single nucleotide variant Pathogenic rs121908628 GRCh37 Chromosome 9, 36233990: 36233990
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.766G> A (p.Asp256Asn) single nucleotide variant Pathogenic rs121908630 GRCh37 Chromosome 9, 36236925: 36236925
13 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
14 GNE NM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val) indel Pathogenic rs121908633 GRCh37 Chromosome 9, 36233991: 36233992
15 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
16 GNE NM_001128227.2(GNE): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908634 GRCh37 Chromosome 9, 36246133: 36246133
17 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
18 GNE NM_001128227.2(GNE): c.697_698insATTC (p.Arg233Hisfs) insertion Pathogenic rs886042120 GRCh37 Chromosome 9, 36246039: 36246040
19 GNE NM_001128227.2(GNE): c.2008C> T (p.Gln670Ter) single nucleotide variant Pathogenic rs886042195 GRCh37 Chromosome 9, 36218198: 36218198
20 GNE NM_001128227.2(GNE): c.1225G> T (p.Asp409Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199877522 GRCh37 Chromosome 9, 36227394: 36227394
21 GNE NM_001128227.2(GNE): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs745517517 GRCh37 Chromosome 9, 36246469: 36246469
22 GNE NM_001128227.2(GNE): c.1937C> G (p.Ser646Ter) single nucleotide variant Pathogenic rs757523840 GRCh37 Chromosome 9, 36218269: 36218269
23 GNE NM_001128227.2(GNE): c.1779delC (p.Cys594Valfs) deletion Pathogenic/Likely pathogenic rs886044449 GRCh37 Chromosome 9, 36219965: 36219965
24 GNE NM_001128227.2(GNE): c.97G> T (p.Glu33Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044514 GRCh37 Chromosome 9, 36249349: 36249349
25 GNE NM_005476.5(GNE): c.1571C> T (p.Ala524Val) single nucleotide variant Pathogenic rs764698870 GRCh37 Chromosome 9, 36222836: 36222836

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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