Aliases & Classifications for Nakajo Syndrome

MalaCards integrated aliases for Nakajo Syndrome:

Name: Nakajo Syndrome 52 29 6 39 71
Nodular Erythema Digital Changes 52

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 panniculitis, and has symptoms including muscle weakness, arthralgia and bone pain. An important gene associated with Nakajo Syndrome is PSMB8 (Proteasome 20S Subunit Beta 8), and among its related pathways/superpathways are fMLP Pathway and Signaling by Wnt. Affiliated tissues include eye, skin and 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 31.2 PSMB8 PSMB4
2 panniculitis 9.5 PSMB8 PSMB4
3 cystic fibrosis 9.2 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

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:

40
Eye, Skin, Bone

Publications for Nakajo Syndrome

Articles related to Nakajo Syndrome:

# Title Authors PMID Year
1
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 all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 PSMB8, GLY201VALSNV Pathogenic 29861
3 PSMB8 NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)SNV Pathogenic 29862 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 6:32810790-32810790 6:32843013-32843013
7 PSMB8 NM_148919.4(PSMB8):c.804G>A (p.Leu268=)SNV Conflicting interpretations of pathogenicity 356361 rs371969268 6:32808763-32808763 6:32840986-32840986
8 PSMB8 NM_148919.4(PSMB8):c.483G>A (p.Gln161=)SNV Conflicting interpretations of pathogenicity 356364 rs41270492 6:32809965-32809965 6:32842188-32842188
9 PSMB8 NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)SNV Uncertain significance 465423 rs368551668 6:32808752-32808752 6:32840975-32840975
10 PSMB8 NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu)SNV Uncertain significance 533959 rs369078226 6:32810470-32810470 6:32842693-32842693
11 PSMB8 NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg)SNV Uncertain significance 533957 rs1554238585 6:32808767-32808767 6:32840990-32840990
12 PSMB8 NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn)SNV Uncertain significance 533958 rs1554238810 6:32809335-32809335 6:32841558-32841558
13 PSMB8 NM_148919.4(PSMB8):c.686G>A (p.Arg229His)SNV Uncertain significance 356363 rs547653681 6:32809364-32809364 6:32841587-32841587
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.*24G>TSNV Uncertain significance 356358 rs115441230 6:32808712-32808712 6:32840935-32840935
16 PSMB8 NM_148919.4(PSMB8):c.*8G>ASNV Uncertain significance 356359 rs376750959 6:32808728-32808728 6:32840951-32840951
17 PSMB8 NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)SNV Uncertain significance 356362 rs55853041 6:32809349-32809349 6:32841572-32841572
18 PSMB8 NM_148919.4(PSMB8):c.*178G>ASNV Uncertain significance 356357 rs886061309 6:32808558-32808558 6:32840781-32840781
19 PSMB8 NM_148919.4(PSMB8):c.*6G>CSNV Uncertain significance 356360 rs371747700 6:32808730-32808730 6:32840953-32840953
20 PSMB8 NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser)SNV Uncertain significance 577366 rs114636648 6:32809380-32809380 6:32841603-32841603
21 PSMB8 NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp)SNV Uncertain significance 572482 rs371006338 6:32808753-32808753 6:32840976-32840976
22 PSMB8 NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp)SNV Uncertain significance 569029 rs200995701 6:32809319-32809319 6:32841542-32841542
23 PSMB8 NM_148919.4(PSMB8):c.633G>A (p.Met211Ile)SNV Uncertain significance 569157 rs137937891 6:32809417-32809417 6:32841640-32841640
24 PSMB8 NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr)SNV Uncertain significance 583398 rs774341327 6:32810785-32810785 6:32843008-32843008
25 PSMB8 NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys)indel Uncertain significance 568159 rs1562352512 6:32810846-32810847 6:32843069-32843070
26 PSMB8 NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly)SNV Uncertain significance 574907 rs1381795628 6:32810719-32810719 6:32842942-32842942
27 PSMB8 NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)SNV Uncertain significance 662030 6:32808812-32808812 6:32841035-32841035
28 PSMB8 NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)SNV Uncertain significance 664917 6:32809355-32809355 6:32841578-32841578
29 PSMB8 NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)SNV Uncertain significance 657742 6:32809931-32809931 6:32842154-32842154
30 PSMB8 NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)SNV Uncertain significance 650601 6:32809933-32809933 6:32842156-32842156
31 PSMB8 NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser)SNV Uncertain significance 649739 6:32810485-32810485 6:32842708-32842708
32 PSMB8 NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met)indel Uncertain significance 653137 6:32810549-32810550 6:32842772-32842773
33 PSMB8 NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu)SNV Uncertain significance 643533 6:32810774-32810774 6:32842997-32842997
34 PSMB8 NM_148919.4(PSMB8):c.-35C>TSNV Uncertain significance 356371 rs886061311 6:32811808-32811808 6:32844031-32844031
35 PSMB8 NM_148919.4(PSMB8):c.129T>C (p.Ala43=)SNV Likely benign 356369 rs2071542 6:32811645-32811645 6:32843868-32843868
36 PSMB8 NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg)SNV Benign/Likely benign 356370 rs114772012 6:32811752-32811752 6:32843975-32843975
37 PSMB8 NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys)SNV Benign/Likely benign 356368 rs2071543 6:32811629-32811629 6:32843852-32843852
38 PSMB8 NM_148919.4(PSMB8):c.192C>T (p.Asn64=)SNV Benign/Likely benign 356366 rs79482999 6:32810822-32810822 6:32843045-32843045
39 PSMB8 NM_148919.4(PSMB8):c.407+6C>TSNV Benign 356365 rs9276810 6:32810443-32810443 6:32842666-32842666

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 27)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.63 PSMB8 PSMB4
2 post-translational protein modification GO:0043687 9.63 PSMB8 PSMB4
3 protein deubiquitination GO:0016579 9.62 PSMB8 PSMB4
4 MAPK cascade GO:0000165 9.62 PSMB8 PSMB4
5 protein polyubiquitination GO:0000209 9.61 PSMB8 PSMB4
6 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.61 PSMB8 PSMB4
7 negative regulation of canonical Wnt signaling pathway GO:0090090 9.6 PSMB8 PSMB4
8 T cell receptor signaling pathway GO:0050852 9.59 PSMB8 PSMB4
9 Fc-epsilon receptor signaling pathway GO:0038095 9.58 PSMB8 PSMB4
10 positive regulation of canonical Wnt signaling pathway GO:0090263 9.58 PSMB8 PSMB4
11 tumor necrosis factor-mediated signaling pathway GO:0033209 9.57 PSMB8 PSMB4
12 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.56 PSMB8 PSMB4
13 regulation of mRNA stability GO:0043488 9.55 PSMB8 PSMB4
14 interleukin-1-mediated signaling pathway GO:0070498 9.54 PSMB8 PSMB4
15 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.52 PSMB8 PSMB4
16 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.51 PSMB8 PSMB4
17 anaphase-promoting complex-dependent catabolic process GO:0031145 9.49 PSMB8 PSMB4
18 regulation of mitotic cell cycle phase transition GO:1901990 9.48 PSMB8 PSMB4
19 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.46 PSMB8 PSMB4
20 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.43 PSMB8 PSMB4
21 NIK/NF-kappaB signaling GO:0038061 9.4 PSMB8 PSMB4
22 regulation of hematopoietic stem cell differentiation GO:1902036 9.37 PSMB8 PSMB4
23 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.32 PSMB8 PSMB4
24 proteolysis involved in cellular protein catabolic process GO:0051603 9.26 PSMB8 PSMB4
25 regulation of cellular amino acid metabolic process GO:0006521 9.16 PSMB8 PSMB4
26 proteasomal protein catabolic process GO:0010498 8.96 PSMB8 PSMB4
27 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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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