Aliases & Classifications for Nonaka Myopathy

MalaCards integrated aliases for Nonaka Myopathy:

Name: Nonaka Myopathy 54 71 29 13 52 69
Inclusion Body Myopathy, Hereditary, Autosomal Recessive 71
Myopathy, Distal, with or Without Rimmed Vacuoles 71
Inclusion Body Myopathy 2, Autosomal Recessive 71
Inclusion Body Myopathy, Autosomal Recessive 69
Inclusion Body Myopathy, Quadriceps-Sparing 71
Myopathy, Distal, with Rimmed Vacuoles 71
Nonaka Distal Myopathy 71
Gne Myopathy 71
Hibm 71
Ibm2 71
Qsm 71
Nm 71

Characteristics:

OMIM:

54
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:



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 inclusion body myopathy, hereditary, autosomal recessive, is related to myopathy, distal, with rimmed vacuoles and inclusion body myositis, and has symptoms including cardiomyopathy, scapular winging and shoulder girdle muscle weakness. An important gene associated with Nonaka Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). 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:

id Related Disease Score Top Affiliating Genes
1 myopathy, distal, with rimmed vacuoles 12.5
2 inclusion body myositis 11.7
3 gne-related myopathy 11.1
4 myopathy 9.9
5 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 9.6 GNE SQSTM1
6 pontocerebellar hypoplasia, type 1b 9.5 GNE SQSTM1
7 clear cell sarcoma 9.5 GNE SQSTM1
8 syndromic intellectual disability 9.4 GNE SQSTM1
9 allergic bronchopulmonary aspergillosis, familial 9.2 GNE SQSTM1

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:

54

Muscle Soft Tissue:
myopathic changes seen on emg
distal muscle weakness
distal muscle atrophy
hamstring muscle affected
tibialis anterior 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:

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

Drugs & Therapeutics for Nonaka Myopathy

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


id 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)

id 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 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Active, not recruiting NCT02346461 Phase 1, Phase 2 ManNac.;ManNac
6 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
7 Efficacy of Sialic Acid GNE Related Thrombocytopenia Enrolling by invitation 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 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:

id Genetic test Affiliating Genes
1 Nonaka Myopathy 29

Anatomical Context for Nonaka Myopathy

MalaCards organs/tissues related to Nonaka Myopathy:

39
Skeletal Muscle

Publications for Nonaka Myopathy

Articles related to Nonaka Myopathy:

id 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)
id 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
11 GNE p.Ile557Thr VAR_017958
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 17)
id 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.1820G> A (p.Gly607Glu) single nucleotide variant Pathogenic rs121908625 GRCh37 Chromosome 9, 36219924: 36219924
3 GNE NM_001190383.1(GNE): c.1669G> A (p.Ala557Thr) single nucleotide variant Pathogenic rs121908626 GRCh37 Chromosome 9, 36218222: 36218222
4 GNE NM_005476.5(GNE): c.2086G> A (p.Val696Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908627 GRCh37 Chromosome 9, 36217445: 36217445
5 GNE NM_001128227.2(GNE): c.1002T> A (p.Cys334Ter) single nucleotide variant Pathogenic rs121908628 GRCh37 Chromosome 9, 36233990: 36233990
6 GNE NM_001128227.2(GNE): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908629 GRCh37 Chromosome 9, 36236861: 36236861
7 GNE NM_001128227.2(GNE): c.766G> A (p.Asp256Asn) single nucleotide variant Pathogenic rs121908630 GRCh37 Chromosome 9, 36236925: 36236925
8 GNE NM_005476.5(GNE): c.1714G> C (p.Val572Leu) single nucleotide variant Pathogenic rs121908632 GRCh37 Chromosome 9, 36219937: 36219937
9 GNE NM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val) indel Pathogenic rs121908633 GRCh37 Chromosome 9, 36233991: 36233992
10 GNE NM_001128227.2(GNE): c.1985C> T (p.Ala662Val) single nucleotide variant Pathogenic rs62541771 GRCh37 Chromosome 9, 36218221: 36218221
11 GNE NM_001128227.2(GNE): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs121908634 GRCh37 Chromosome 9, 36246133: 36246133
12 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
13 GNE NM_005476.5(GNE): c.527A> T (p.Asp176Val) single nucleotide variant Pathogenic/Likely pathogenic rs139425890 GRCh37 Chromosome 9, 36246117: 36246117
14 GNE NM_005476.5(GNE): c.1760T> C (p.Ile587Thr) single nucleotide variant Pathogenic/Likely pathogenic rs748949603 GRCh37 Chromosome 9, 36219891: 36219891
15 GNE NM_001128227.2(GNE): c.740T> C (p.Val247Ala) single nucleotide variant Pathogenic/Likely pathogenic rs779694939 GRCh38 Chromosome 9, 36236954: 36236954
16 GNE NM_001128227.2(GNE): c.478C> T (p.Arg160Ter) single nucleotide variant Likely pathogenic rs372872777 GRCh37 Chromosome 9, 36246259: 36246259
17 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

GO Terms for Nonaka Myopathy

Sources for Nonaka Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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