Aliases & Classifications for Nakajo Syndrome

MalaCards integrated aliases for Nakajo Syndrome:

Name: Nakajo Syndrome 53 29 6 40 73
Nodular Erythema Digital Changes 53

Classifications:



External Ids:

UMLS 73 C1850568

Summaries for Nakajo Syndrome

MalaCards based summary : Nakajo Syndrome, also known as nodular erythema digital changes, is related to proteasome-associated autoinflammatory syndrome 1, and has symptoms including muscle weakness, arthralgia and bone pain. An important gene associated with Nakajo Syndrome is PSMB8 (Proteasome Subunit Beta 8), and among its related pathways/superpathways are WNT Signaling and CLEC7A (Dectin-1) signaling. The drugs Ergocalciferol and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone.

Wikipedia : 76 Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive... more...

Related Diseases for Nakajo Syndrome

Diseases related to Nakajo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 proteasome-associated autoinflammatory syndrome 1 31.6 PSMB4 PSMB8

Symptoms & Phenotypes for Nakajo Syndrome

UMLS symptoms related to Nakajo Syndrome:


muscle weakness, arthralgia, bone pain

Drugs & Therapeutics for Nakajo Syndrome

Drugs for Nakajo Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
2
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4 Micronutrients Phase 4
5 Epoetin alfa Phase 4 113427-24-0
6 Trace Elements Phase 4
7 Ergocalciferols Phase 4
8 Bone Density Conservation Agents Phase 4
9 Vitamin D2 Phase 4
10 Calciferol Phase 4
11 Hematinics Phase 4
12 Vitamins Phase 4
13
Infliximab Approved Phase 3 170277-31-3
14 Dermatologic Agents Phase 3
15 Gastrointestinal Agents Phase 3
16 Antirheumatic Agents Phase 3
17 Antibodies, Monoclonal Phase 1
18 Antibodies Phase 1
19 glucocorticoids Phase 1
20 Hormones Phase 1
21 Hormone Antagonists Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
23 Immunoglobulins Phase 1
24
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
25
Candesartan cilexetil Approved 145040-37-5 2540
26
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
27
Cocaine Approved, Illicit Not Applicable 50-36-2 5760 446220
28
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
29 tannic acid Approved Not Applicable
30
Ranibizumab Approved Not Applicable 347396-82-1 459903
31
Candesartan Experimental 139481-59-7 2541
32 Antihypertensive Agents
33 diuretics
34 Angiotensin II Type 1 Receptor Blockers
35 Sodium Chloride Symporter Inhibitors
36 Natriuretic Agents
37 Angiotensin Receptor Antagonists
38 Angiotensinogen
39 Angiogenesis Modulating Agents Not Applicable
40 Immunologic Factors Not Applicable
41 Angiogenesis Inhibitors Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Correcting Anemia and Native Vitamin D Supplementation in Kidney Transplant Recipients Enrolling by invitation NCT01817699 Phase 4
2 Evaluation of Low Dose Infliximab in Ankylosing Spondylitis (Study P04352) Completed NCT00202865 Phase 3
3 Effects of Bright Light on Co-occurring Cancer-related Symptoms in Breast Cancer Survivors Recruiting NCT03304587 Phase 2
4 Bright Light on Fatigue in Women Being Treated for Breast Cancer Completed NCT02658708 Phase 1
5 Trial of an Intratumoral Injections of INXN-3001 in Subjects With Stage III or IV Melanoma Completed NCT00815607 Phase 1 INXN-1001
6 Ublituximab for Acute Neuromyelitis Optica (NMO) Relapses Active, not recruiting NCT02276963 Phase 1 Ublituximab
7 Candesartan and Candesartan/ Hydrochlorothiazide in the Treatment of Patients With Hypertension and LVH Completed NCT00607633
8 Pursed Lip Breathing in Interstitial Lung Disease Completed NCT02934750 Not Applicable
9 Impact of Lung Flute Therapy on Asthma Completed NCT02003521
10 Effectiveness of Breathing Exercises as Therapeutic Play on Respiratory Status Among Children With Lower Respiratory Tract Disorders Completed NCT03225274 Not Applicable
11 Promoting Fetal Movement Monitoring: Improving Birth Outcomes Completed NCT01844011 Not Applicable
12 Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT02974595
13 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT00059748
14 Assessment of Near Vision Capacity in Different Light Conditions Following Bilateral Trifocal Intraocular Implantation Recruiting NCT03226561 Not Applicable
15 Electricity Access and Maternal Care in Rural Health Facilities in Uganda Recruiting NCT03589625 Not Applicable
16 Noctura400 Treatment for Diabetic Retinopathy (CANDLE) Active, not recruiting NCT02207712 Not Applicable Ranibizumab
17 Evaluation of Different Methods for Diagnosis of ME Not yet recruiting NCT03759470
18 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes No longer available NCT01724580 Baricitinib

Search NIH Clinical Center for Nakajo Syndrome

Genetic Tests for Nakajo Syndrome

Genetic tests related to Nakajo Syndrome:

# Genetic test Affiliating Genes
1 Nakajo Syndrome 29 PSMB8

Anatomical Context for Nakajo Syndrome

MalaCards organs/tissues related to Nakajo Syndrome:

41
Skin, Eye, Bone

Publications for Nakajo Syndrome

Variations for Nakajo Syndrome

ClinVar genetic disease variations for Nakajo Syndrome:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSMB8 PSMB8, THR75MET single nucleotide variant Pathogenic
2 PSMB8 NM_004159.4(PSMB8): c.590G> T (p.Gly197Val) single nucleotide variant Pathogenic rs387906680 GRCh37 Chromosome 6, 32809448: 32809448
3 PSMB8 NM_004159.4(PSMB8): c.590G> T (p.Gly197Val) single nucleotide variant Pathogenic rs387906680 GRCh38 Chromosome 6, 32841671: 32841671
4 PSMB8 PSMB8, GLY201VAL single nucleotide variant Pathogenic
5 PSMB8 PSMB8, CYS135TER (rs146254972) single nucleotide variant Pathogenic
6 PSMB8 NM_148919.3(PSMB8): c.*178G> A single nucleotide variant Uncertain significance rs886061309 GRCh38 Chromosome 6, 32840781: 32840781
7 PSMB8 NM_148919.3(PSMB8): c.*178G> A single nucleotide variant Uncertain significance rs886061309 GRCh37 Chromosome 6, 32808558: 32808558
8 PSMB8 NM_148919.3(PSMB8): c.*6G> C single nucleotide variant Uncertain significance rs371747700 GRCh37 Chromosome 6, 32808730: 32808730
9 PSMB8 NM_148919.3(PSMB8): c.*6G> C single nucleotide variant Uncertain significance rs371747700 GRCh38 Chromosome 6, 32840953: 32840953
10 PSMB8 NM_148919.3(PSMB8): c.407+6C> T single nucleotide variant Benign rs9276810 GRCh37 Chromosome 6, 32810443: 32810443
11 PSMB8 NM_148919.3(PSMB8): c.407+6C> T single nucleotide variant Benign rs9276810 GRCh38 Chromosome 6, 32842666: 32842666
12 PSMB8 NM_148919.3(PSMB8): c.-35C> T single nucleotide variant Uncertain significance rs886061311 GRCh37 Chromosome 6, 32811808: 32811808
13 PSMB8 NM_148919.3(PSMB8): c.-35C> T single nucleotide variant Uncertain significance rs886061311 GRCh38 Chromosome 6, 32844031: 32844031
14 PSMB8 NM_148919.3(PSMB8): c.701A> G (p.Tyr234Cys) single nucleotide variant Uncertain significance rs55853041 GRCh38 Chromosome 6, 32841572: 32841572
15 PSMB8 NM_148919.3(PSMB8): c.804G> A (p.Leu268=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 GRCh37 Chromosome 6, 32808763: 32808763
16 PSMB8 NM_148919.3(PSMB8): c.804G> A (p.Leu268=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 GRCh38 Chromosome 6, 32840986: 32840986
17 PSMB8 NM_148919.3(PSMB8): c.701A> G (p.Tyr234Cys) single nucleotide variant Uncertain significance rs55853041 GRCh37 Chromosome 6, 32809349: 32809349
18 PSMB8 NM_148919.3(PSMB8): c.145C> A (p.Gln49Lys) single nucleotide variant Benign/Likely benign rs2071543 GRCh37 Chromosome 6, 32811629: 32811629
19 PSMB8 NM_148919.3(PSMB8): c.145C> A (p.Gln49Lys) single nucleotide variant Benign/Likely benign rs2071543 GRCh38 Chromosome 6, 32843852: 32843852
20 PSMB8 NM_148919.3(PSMB8): c.129T> C (p.Ala43=) single nucleotide variant Likely benign rs2071542 GRCh37 Chromosome 6, 32811645: 32811645
21 PSMB8 NM_148919.3(PSMB8): c.129T> C (p.Ala43=) single nucleotide variant Likely benign rs2071542 GRCh38 Chromosome 6, 32843868: 32843868
22 PSMB8 NM_148919.3(PSMB8): c.22G> A (p.Gly8Arg) single nucleotide variant Benign/Likely benign rs114772012 GRCh37 Chromosome 6, 32811752: 32811752
23 PSMB8 NM_148919.3(PSMB8): c.22G> A (p.Gly8Arg) single nucleotide variant Benign/Likely benign rs114772012 GRCh38 Chromosome 6, 32843975: 32843975
24 PSMB8 NM_148919.3(PSMB8): c.686G> A (p.Arg229His) single nucleotide variant Uncertain significance rs547653681 GRCh37 Chromosome 6, 32809364: 32809364
25 PSMB8 NM_148919.3(PSMB8): c.686G> A (p.Arg229His) single nucleotide variant Uncertain significance rs547653681 GRCh38 Chromosome 6, 32841587: 32841587
26 PSMB8 NM_148919.3(PSMB8): c.192C> T (p.Asn64=) single nucleotide variant Benign/Likely benign rs79482999 GRCh37 Chromosome 6, 32810822: 32810822
27 PSMB8 NM_148919.3(PSMB8): c.192C> T (p.Asn64=) single nucleotide variant Benign/Likely benign rs79482999 GRCh38 Chromosome 6, 32843045: 32843045
28 PSMB8 NM_148919.3(PSMB8): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs886061310 GRCh37 Chromosome 6, 32810847: 32810847
29 PSMB8 NM_148919.3(PSMB8): c.167C> A (p.Ser56Tyr) single nucleotide variant Uncertain significance rs886061310 GRCh38 Chromosome 6, 32843070: 32843070
30 PSMB8 NM_148919.3(PSMB8): c.*24G> T single nucleotide variant Uncertain significance rs115441230 GRCh37 Chromosome 6, 32808712: 32808712
31 PSMB8 NM_148919.3(PSMB8): c.*24G> T single nucleotide variant Uncertain significance rs115441230 GRCh38 Chromosome 6, 32840935: 32840935
32 PSMB8 NM_148919.3(PSMB8): c.*8G> A single nucleotide variant Uncertain significance rs376750959 GRCh38 Chromosome 6, 32840951: 32840951
33 PSMB8 NM_148919.3(PSMB8): c.*8G> A single nucleotide variant Uncertain significance rs376750959 GRCh37 Chromosome 6, 32808728: 32808728
34 PSMB8 NM_148919.3(PSMB8): c.483G> A (p.Gln161=) single nucleotide variant Conflicting interpretations of pathogenicity rs41270492 GRCh37 Chromosome 6, 32809965: 32809965
35 PSMB8 NM_148919.3(PSMB8): c.483G> A (p.Gln161=) single nucleotide variant Conflicting interpretations of pathogenicity rs41270492 GRCh38 Chromosome 6, 32842188: 32842188
36 PSMB8 NM_148919.3(PSMB8): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs368551668 GRCh37 Chromosome 6, 32808752: 32808752
37 PSMB8 NM_148919.3(PSMB8): c.815G> A (p.Arg272Gln) single nucleotide variant Uncertain significance rs368551668 GRCh38 Chromosome 6, 32840975: 32840975
38 PSMB8 NM_148919.3(PSMB8): c.220A> T (p.Thr74Ser) single nucleotide variant Benign rs17220206 GRCh37 Chromosome 6, 32810794: 32810794
39 PSMB8 NM_148919.3(PSMB8): c.220A> T (p.Thr74Ser) single nucleotide variant Benign rs17220206 GRCh38 Chromosome 6, 32843017: 32843017
40 PSMB8 NM_148919.3(PSMB8): c.501C> T (p.Leu167=) single nucleotide variant Benign rs11540143 GRCh37 Chromosome 6, 32809947: 32809947
41 PSMB8 NM_148919.3(PSMB8): c.501C> T (p.Leu167=) single nucleotide variant Benign rs11540143 GRCh38 Chromosome 6, 32842170: 32842170
42 PSMB8 NM_148919.3(PSMB8): c.222C> A (p.Thr74=) single nucleotide variant Benign rs116638337 GRCh37 Chromosome 6, 32810792: 32810792
43 PSMB8 NM_148919.3(PSMB8): c.222C> A (p.Thr74=) single nucleotide variant Benign rs116638337 GRCh38 Chromosome 6, 32843015: 32843015
44 PSMB8 NM_148919.3(PSMB8): c.732C> T (p.Gly244=) single nucleotide variant Benign rs78909544 GRCh38 Chromosome 6, 32841541: 32841541
45 PSMB8 NM_148919.3(PSMB8): c.732C> T (p.Gly244=) single nucleotide variant Benign rs78909544 GRCh37 Chromosome 6, 32809318: 32809318
46 PSMB8 NM_148919.3(PSMB8): c.386G> T (p.Arg129Leu) single nucleotide variant Uncertain significance rs369078226 GRCh37 Chromosome 6, 32810470: 32810470
47 PSMB8 NM_148919.3(PSMB8): c.386G> T (p.Arg129Leu) single nucleotide variant Uncertain significance rs369078226 GRCh38 Chromosome 6, 32842693: 32842693
48 PSMB8 NM_148919.3(PSMB8): c.800T> G (p.Leu267Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 32840990: 32840990
49 PSMB8 NM_148919.3(PSMB8): c.800T> G (p.Leu267Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 32808767: 32808767
50 PSMB8 NM_148919.3(PSMB8): c.715G> A (p.Asp239Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 32809335: 32809335

Expression for Nakajo Syndrome

Search GEO for disease gene expression data for Nakajo Syndrome.

Pathways for Nakajo Syndrome

GO Terms for Nakajo Syndrome

Cellular components related to Nakajo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteasome complex GO:0000502 9.16 PSMB4 PSMB8
2 proteasome core complex GO:0005839 8.96 PSMB4 PSMB8
3 proteasome core complex, beta-subunit complex GO:0019774 8.62 PSMB4 PSMB8

Biological processes related to Nakajo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.37 PSMB4 PSMB8
2 viral process GO:0016032 9.33 PSMB4 PSMB8 TAP2
3 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.32 PSMB4 PSMB8
4 proteolysis involved in cellular protein catabolic process GO:0051603 9.26 PSMB4 PSMB8
5 proteasomal protein catabolic process GO:0010498 8.96 PSMB4 PSMB8
6 proteasomal ubiquitin-independent protein catabolic process GO:0010499 8.62 PSMB4 PSMB8

Molecular functions related to Nakajo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 PSMB4 PSMB8
2 threonine-type endopeptidase activity GO:0004298 8.62 PSMB4 PSMB8

Sources for Nakajo Syndrome

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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