Aliases & Classifications for Nakajo Syndrome

MalaCards integrated aliases for Nakajo Syndrome:

Name: Nakajo Syndrome 20 6 39 71
Nodular Erythema Digital Changes 20

Classifications:



External Ids:

UMLS 71 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 nodular episcleritis, and has symptoms including muscle weakness, arthralgia and bone pain. An important gene associated with Nakajo Syndrome is PSMB4 (Proteasome 20S Subunit Beta 4), and among its related pathways/superpathways are fMLP Pathway and Signaling by Wnt. Affiliated tissues include bone.

Wikipedia : 74 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 31.0 PSMB8 PSMB4
2 nodular episcleritis 9.6 PSMB8 PSMB4
3 panniculitis 9.6 PSMB8 PSMB4

Symptoms & Phenotypes for Nakajo Syndrome

UMLS symptoms related to Nakajo Syndrome:


muscle weakness, arthralgia, bone pain

Drugs & Therapeutics for Nakajo Syndrome

Search Clinical Trials , NIH Clinical Center for Nakajo Syndrome

Genetic Tests for Nakajo Syndrome

Anatomical Context for Nakajo Syndrome

MalaCards organs/tissues related to Nakajo Syndrome:

40
Bone

Publications for Nakajo Syndrome

Articles related to Nakajo Syndrome:

# Title Authors PMID Year
1
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 6
26524591 2015
2
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. 6
21953331 2012
3
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. 6
21881205 2011
4
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. 6
21852578 2011
5
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. 6
21129723 2010
6
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. 6
20534754 2010
7
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. 6
20159315 2010
8
Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. 6
8495043 1993
9
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. 61
22441638 2012

Variations for Nakajo Syndrome

ClinVar genetic disease variations for Nakajo Syndrome:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSMB8 NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) SNV Pathogenic 29860 rs387906680 6:32809448-32809448 6:32841671-32841671
2 PSMB8 G201V SNV Pathogenic 29861
3 PSMB8 NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) SNV Pathogenic 29862 rs146254972 6:32810451-32810451 6:32842674-32842674
4 PSMB8 NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) SNV Pathogenic 548954 rs1554239543 6:32810543-32810543 6:32842766-32842766
5 PSMB4 NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) SNV Pathogenic 548958 rs1553209373 1:151373804-151373804 1:151401328-151401328
6 PSMB8 NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) SNV Pathogenic 659832 rs748082671 6:32810790-32810790 6:32843013-32843013
7 PSMB8 NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter) SNV Pathogenic 952176 6:32810027-32810027 6:32842250-32842250
8 PSMB8 NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs) Duplication Pathogenic 933294 6:32809438-32809439 6:32841661-32841662
9 PSMB8 NM_148919.4(PSMB8):c.804G>A (p.Leu268=) SNV Conflicting interpretations of pathogenicity 356361 rs371969268 6:32808763-32808763 6:32840986-32840986
10 PSMB8 NM_148919.4(PSMB8):c.-35C>T SNV Uncertain significance 356371 rs886061311 6:32811808-32811808 6:32844031-32844031
11 PSMB8 NM_148919.4(PSMB8):c.686G>A (p.Arg229His) SNV Uncertain significance 356363 rs547653681 6:32809364-32809364 6:32841587-32841587
12 PSMB8 NM_148919.4(PSMB8):c.*6G>C SNV Uncertain significance 356360 rs371747700 6:32808730-32808730 6:32840953-32840953
13 PSMB8 NM_148919.4(PSMB8):c.*178G>A SNV Uncertain significance 356357 rs886061309 6:32808558-32808558 6:32840781-32840781
14 PSMB8 NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) SNV Uncertain significance 356367 rs886061310 6:32810847-32810847 6:32843070-32843070
15 PSMB8 NM_148919.4(PSMB8):c.*8G>A SNV Uncertain significance 356359 rs376750959 6:32808728-32808728 6:32840951-32840951
16 PSMB8 NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) SNV Uncertain significance 356362 rs55853041 6:32809349-32809349 6:32841572-32841572
17 PSMB8 NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr) SNV Uncertain significance 662030 rs1582602825 6:32808812-32808812 6:32841035-32841035
18 PSMB8 NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr) SNV Uncertain significance 664917 rs767937121 6:32809355-32809355 6:32841578-32841578
19 PSMB8 NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) SNV Uncertain significance 465423 rs368551668 6:32808752-32808752 6:32840975-32840975
20 PSMB8 NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) SNV Uncertain significance 533957 rs1554238585 6:32808767-32808767 6:32840990-32840990
21 PSMB8 NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) SNV Uncertain significance 533958 rs1554238810 6:32809335-32809335 6:32841558-32841558
22 PSMB8 NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) SNV Uncertain significance 533959 rs369078226 6:32810470-32810470 6:32842693-32842693
23 PSMB8 NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) Indel Uncertain significance 568159 rs1562352512 6:32810846-32810847 6:32843069-32843070
24 PSMB8 NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) SNV Uncertain significance 569029 rs200995701 6:32809319-32809319 6:32841542-32841542
25 PSMB8 NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) SNV Uncertain significance 569157 rs137937891 6:32809417-32809417 6:32841640-32841640
26 PSMB8 NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) SNV Uncertain significance 572482 rs371006338 6:32808753-32808753 6:32840976-32840976
27 PSMB8 NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) SNV Uncertain significance 574907 rs1381795628 6:32810719-32810719 6:32842942-32842942
28 PSMB8 NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) SNV Uncertain significance 577366 rs114636648 6:32809380-32809380 6:32841603-32841603
29 PSMB8 NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) SNV Uncertain significance 583398 rs774341327 6:32810785-32810785 6:32843008-32843008
30 PSMB8 NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu) SNV Uncertain significance 643533 rs529946385 6:32810774-32810774 6:32842997-32842997
31 PSMB8 NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser) SNV Uncertain significance 649739 rs767636318 6:32810485-32810485 6:32842708-32842708
32 PSMB8 NM_148919.4(PSMB8):c.515T>C (p.Met172Thr) SNV Uncertain significance 650601 rs756049842 6:32809933-32809933 6:32842156-32842156
33 PSMB8 NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met) Indel Uncertain significance 653137 rs371826956 6:32810549-32810550 6:32842772-32842773
34 PSMB8 NM_148919.4(PSMB8):c.517A>G (p.Ile173Val) SNV Uncertain significance 657742 rs1582605795 6:32809931-32809931 6:32842154-32842154
35 PSMB8 NM_148919.4(PSMB8):c.493A>G (p.Met165Val) SNV Uncertain significance 935206 6:32809955-32809955 6:32842178-32842178
36 PSMB8 NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) SNV Uncertain significance 940811 6:32810833-32810833 6:32843056-32843056
37 PSMB8 NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp) SNV Uncertain significance 942129 6:32810552-32810552 6:32842775-32842775
38 PSMB8 NM_148919.4(PSMB8):c.*116C>T SNV Uncertain significance 904863 6:32808620-32808620 6:32840843-32840843
39 PSMB8 NM_148919.4(PSMB8):c.*57C>T SNV Uncertain significance 904864 6:32808679-32808679 6:32840902-32840902
40 PSMB8 NM_148919.4(PSMB8):c.180C>T (p.Asp60=) SNV Uncertain significance 907465 6:32810834-32810834 6:32843057-32843057
41 PSMB8 NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) SNV Uncertain significance 953224 6:32809506-32809506 6:32841729-32841729
42 PSMB8 NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) SNV Uncertain significance 953261 6:32810525-32810525 6:32842748-32842748
43 PSMB8 NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) SNV Uncertain significance 954224 6:32809317-32809317 6:32841540-32841540
44 PSMB8 NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) SNV Uncertain significance 959397 6:32810742-32810742 6:32842965-32842965
45 PSMB8 NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser) SNV Uncertain significance 960940 6:32811647-32811647 6:32843870-32843870
46 PSMB8 NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) SNV Uncertain significance 961098 6:32809388-32809388 6:32841611-32841611
47 PSMB8 NM_148919.4(PSMB8):c.316G>A (p.Val106Met) SNV Uncertain significance 963066 6:32810540-32810540 6:32842763-32842763
48 PSMB8 NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp) SNV Uncertain significance 963136 6:32809961-32809961 6:32842184-32842184
49 PSMB8 NM_148919.4(PSMB8):c.386G>A (p.Arg129His) SNV Uncertain significance 835890 6:32810470-32810470 6:32842693-32842693
50 PSMB8 NM_148919.4(PSMB8):c.556G>A (p.Val186Met) SNV Uncertain significance 837279 6:32809494-32809494 6:32841717-32841717

Expression for Nakajo Syndrome

Search GEO for disease gene expression data for Nakajo Syndrome.

Pathways for Nakajo Syndrome

Pathways related to Nakajo Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 PSMB8 PSMB4
2
Show member pathways
12.31 PSMB8 PSMB4
3
Show member pathways
12.26 PSMB8 PSMB4
4
Show member pathways
12.24 PSMB8 PSMB4
5
Show member pathways
12.21 PSMB8 PSMB4
6
Show member pathways
12.12 PSMB8 PSMB4
7
Show member pathways
12.1 PSMB8 PSMB4
8
Show member pathways
12.03 PSMB8 PSMB4
9
Show member pathways
11.97 PSMB8 PSMB4
10
Show member pathways
11.92 PSMB8 PSMB4
11
Show member pathways
11.82 PSMB8 PSMB4
12 11.72 PSMB8 PSMB4
13
Show member pathways
11.67 PSMB8 PSMB4
14
Show member pathways
11.5 PSMB8 PSMB4
15 10.78 PSMB8 PSMB4
16 10.69 PSMB8 PSMB4

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 PSMB8 PSMB4
2 proteasome core complex GO:0005839 8.96 PSMB8 PSMB4
3 proteasome core complex, beta-subunit complex GO:0019774 8.62 PSMB8 PSMB4

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.63 PSMB8 PSMB4
2 post-translational protein modification GO:0043687 9.62 PSMB8 PSMB4
3 MAPK cascade GO:0000165 9.62 PSMB8 PSMB4
4 protein polyubiquitination GO:0000209 9.61 PSMB8 PSMB4
5 protein deubiquitination GO:0016579 9.61 PSMB8 PSMB4
6 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.6 PSMB8 PSMB4
7 negative regulation of canonical Wnt signaling pathway GO:0090090 9.59 PSMB8 PSMB4
8 T cell receptor signaling pathway GO:0050852 9.58 PSMB8 PSMB4
9 Fc-epsilon receptor signaling pathway GO:0038095 9.58 PSMB8 PSMB4
10 positive regulation of canonical Wnt signaling pathway GO:0090263 9.57 PSMB8 PSMB4
11 tumor necrosis factor-mediated signaling pathway GO:0033209 9.56 PSMB8 PSMB4
12 regulation of mRNA stability GO:0043488 9.55 PSMB8 PSMB4
13 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.54 PSMB8 PSMB4
14 interleukin-1-mediated signaling pathway GO:0070498 9.52 PSMB8 PSMB4
15 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.51 PSMB8 PSMB4
16 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 PSMB8 PSMB4
17 anaphase-promoting complex-dependent catabolic process GO:0031145 9.48 PSMB8 PSMB4
18 regulation of mitotic cell cycle phase transition GO:1901990 9.46 PSMB8 PSMB4
19 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.43 PSMB8 PSMB4
20 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.4 PSMB8 PSMB4
21 NIK/NF-kappaB signaling GO:0038061 9.37 PSMB8 PSMB4
22 regulation of hematopoietic stem cell differentiation GO:1902036 9.32 PSMB8 PSMB4
23 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.26 PSMB8 PSMB4
24 proteolysis involved in cellular protein catabolic process GO:0051603 9.16 PSMB8 PSMB4
25 regulation of cellular amino acid metabolic process GO:0006521 8.96 PSMB8 PSMB4
26 proteasomal ubiquitin-independent protein catabolic process GO:0010499 8.62 PSMB8 PSMB4

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.16 PSMB8 PSMB4
2 endopeptidase activity GO:0004175 8.96 PSMB8 PSMB4
3 threonine-type endopeptidase activity GO:0004298 8.62 PSMB8 PSMB4

Sources for Nakajo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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