Aliases & Classifications for Nakajo Syndrome

MalaCards integrated aliases for Nakajo Syndrome:

Name: Nakajo Syndrome 53 29 6 40 72
Nodular Erythema Digital Changes 53

Classifications:



External Ids:

UMLS 72 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 cardiac sarcoidosis, 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. Affiliated tissues include skin, eye and bone.

Wikipedia : 75 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 30.9 PSMB8 PSMB4
2 cardiac sarcoidosis 9.7 TAP2 PSMB8

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:

41
Skin, Eye, 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. 38
22441638 2012

Variations for Nakajo Syndrome

ClinVar genetic disease variations for Nakajo Syndrome:

6 (show all 45)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PSMB8 NM_004159.5(PSMB8): c.301A> C (p.Lys101Gln) single nucleotide variant Pathogenic rs1554239543 6:32810543-32810543 6:32842766-32842766
2 PSMB4 NM_002796.3(PSMB4): c.666C> A (p.Tyr222Ter) single nucleotide variant Pathogenic rs1553209373 1:151373804-151373804 1:151401328-151401328
3 PSMB8 PSMB8, THR75MET single nucleotide variant Pathogenic
4 PSMB8 NM_004159.5(PSMB8): c.590G> T (p.Gly197Val) single nucleotide variant Pathogenic rs387906680 6:32809448-32809448 6:32841671-32841671
5 PSMB8 PSMB8, GLY201VAL single nucleotide variant Pathogenic
6 PSMB8 PSMB8, CYS135TER (rs146254972) single nucleotide variant Pathogenic
7 PSMB8 NM_004159.5(PSMB8): c.212C> T (p.Thr71Met) single nucleotide variant Pathogenic 6:32810790-32810790 6:32843013-32843013
8 PSMB8 NM_004159.5(PSMB8): c.792G> A (p.Leu264=) single nucleotide variant Conflicting interpretations of pathogenicity rs371969268 6:32808763-32808763 6:32840986-32840986
9 PSMB8 NM_004159.5(PSMB8): c.471G> A (p.Gln157=) single nucleotide variant Conflicting interpretations of pathogenicity rs41270492 6:32809965-32809965 6:32842188-32842188
10 PSMB8 NM_004159.5(PSMB8): c.658G> T (p.Ala220Ser) single nucleotide variant Uncertain significance 6:32809380-32809380 6:32841603-32841603
11 PSMB8 NM_004159.5(PSMB8): c.802C> T (p.Arg268Trp) single nucleotide variant Uncertain significance 6:32808753-32808753 6:32840976-32840976
12 PSMB8 NM_004159.5(PSMB8): c.719G> A (p.Gly240Asp) single nucleotide variant Uncertain significance 6:32809319-32809319 6:32841542-32841542
13 PSMB8 NM_004159.5(PSMB8): c.621G> A (p.Met207Ile) single nucleotide variant Uncertain significance 6:32809417-32809417 6:32841640-32841640
14 PSMB8 NM_004159.5(PSMB8): c.217G> A (p.Ala73Thr) single nucleotide variant Uncertain significance 6:32810785-32810785 6:32843008-32843008
15 PSMB8 NM_004159.5(PSMB8): c.155_156delinsGT (p.Ser52Cys) indel Uncertain significance 6:32810846-32810847 6:32843069-32843070
16 PSMB8 NM_004159.5(PSMB8): c.283A> G (p.Ser95Gly) single nucleotide variant Uncertain significance 6:32810719-32810719 6:32842942-32842942
17 PSMB8 NM_004159.5(PSMB8): c.743A> C (p.Lys248Thr) single nucleotide variant Uncertain significance 6:32808812-32808812 6:32841035-32841035
18 PSMB8 NM_004159.5(PSMB8): c.683T> C (p.Ile228Thr) single nucleotide variant Uncertain significance 6:32809355-32809355 6:32841578-32841578
19 PSMB8 NM_004159.5(PSMB8): c.505A> G (p.Ile169Val) single nucleotide variant Uncertain significance 6:32809931-32809931 6:32842154-32842154
20 PSMB8 NM_004159.5(PSMB8): c.503T> C (p.Met168Thr) single nucleotide variant Uncertain significance 6:32809933-32809933 6:32842156-32842156
21 PSMB8 NM_004159.5(PSMB8): c.359G> C (p.Cys120Ser) single nucleotide variant Uncertain significance 6:32810485-32810485 6:32842708-32842708
22 PSMB8 NM_004159.5(PSMB8): c.294_295delinsAA (p.Val99Met) indel Uncertain significance 6:32810549-32810550 6:32842772-32842773
23 PSMB8 NM_004159.5(PSMB8): c.228C> G (p.Phe76Leu) single nucleotide variant Uncertain significance 6:32810774-32810774 6:32842997-32842997
24 PSMB8 NM_004159.5(PSMB8): c.689A> G (p.Tyr230Cys) single nucleotide variant Uncertain significance rs55853041 6:32809349-32809349 6:32841572-32841572
25 PSMB8 NM_004159.5(PSMB8): c.674G> A (p.Arg225His) single nucleotide variant Uncertain significance rs547653681 6:32809364-32809364 6:32841587-32841587
26 PSMB8 NM_004159.5(PSMB8): c.155C> A (p.Ser52Tyr) single nucleotide variant Uncertain significance rs886061310 6:32810847-32810847 6:32843070-32843070
27 PSMB8 NM_004159.5(PSMB8): c.*24G> T single nucleotide variant Uncertain significance rs115441230 6:32808712-32808712 6:32840935-32840935
28 PSMB8 NM_004159.5(PSMB8): c.*8G> A single nucleotide variant Uncertain significance rs376750959 6:32808728-32808728 6:32840951-32840951
29 PSMB8 NM_004159.5(PSMB8): c.*178G> A single nucleotide variant Uncertain significance rs886061309 6:32808558-32808558 6:32840781-32840781
30 PSMB8 NM_004159.5(PSMB8): c.*6G> C single nucleotide variant Uncertain significance rs371747700 6:32808730-32808730 6:32840953-32840953
31 PSMB8 NM_004159.5(PSMB8): c.803G> A (p.Arg268Gln) single nucleotide variant Uncertain significance rs368551668 6:32808752-32808752 6:32840975-32840975
32 PSMB8 NM_004159.5(PSMB8): c.374G> T (p.Arg125Leu) single nucleotide variant Uncertain significance rs369078226 6:32810470-32810470 6:32842693-32842693
33 PSMB8 NM_004159.5(PSMB8): c.788T> G (p.Leu263Arg) single nucleotide variant Uncertain significance rs1554238585 6:32808767-32808767 6:32840990-32840990
34 PSMB8 NM_004159.5(PSMB8): c.703G> A (p.Asp235Asn) single nucleotide variant Uncertain significance rs1554238810 6:32809335-32809335 6:32841558-32841558
35 PSMB8 NM_004159.5(PSMB8): c.135+248C> T single nucleotide variant Uncertain significance rs886061311 6:32811808-32811808 6:32844031-32844031
36 PSMB8 NM_004159.5(PSMB8): c.526-10C> T single nucleotide variant Likely benign rs923980627 6:32809522-32809522 6:32841745-32841745
37 PSMB8 NM_148919.4(PSMB8): c.129T> C (p.Ala43=) single nucleotide variant Likely benign rs2071542 6:32811645-32811645 6:32843868-32843868
38 PSMB8 NM_148919.4(PSMB8): c.22G> A (p.Gly8Arg) single nucleotide variant Benign/Likely benign rs114772012 6:32811752-32811752 6:32843975-32843975
39 PSMB8 NM_148919.4(PSMB8): c.145C> A (p.Gln49Lys) single nucleotide variant Benign/Likely benign rs2071543 6:32811629-32811629 6:32843852-32843852
40 PSMB8 NM_004159.5(PSMB8): c.180C> T (p.Asn60=) single nucleotide variant Benign/Likely benign rs79482999 6:32810822-32810822 6:32843045-32843045
41 PSMB8 NM_004159.5(PSMB8): c.208A> T (p.Thr70Ser) single nucleotide variant Benign rs17220206 6:32810794-32810794 6:32843017-32843017
42 PSMB8 NM_004159.5(PSMB8): c.489C> T (p.Leu163=) single nucleotide variant Benign rs11540143 6:32809947-32809947 6:32842170-32842170
43 PSMB8 NM_004159.5(PSMB8): c.210C> A (p.Thr70=) single nucleotide variant Benign rs116638337 6:32810792-32810792 6:32843015-32843015
44 PSMB8 NM_004159.5(PSMB8): c.720C> T (p.Gly240=) single nucleotide variant Benign rs78909544 6:32809318-32809318 6:32841541-32841541
45 PSMB8 NM_004159.5(PSMB8): c.395+6C> T single nucleotide variant Benign 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

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:

# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.37 PSMB8 PSMB4
2 viral process GO:0016032 9.33 TAP2 PSMB8 PSMB4
3 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.32 PSMB8 PSMB4
4 proteolysis involved in cellular protein catabolic process GO:0051603 9.26 PSMB8 PSMB4
5 proteasomal protein catabolic process GO:0010498 8.96 PSMB8 PSMB4
6 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 endopeptidase activity GO:0004175 8.96 PSMB8 PSMB4
2 threonine-type endopeptidase activity GO:0004298 8.62 PSMB8 PSMB4

Sources for Nakajo Syndrome

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10 dbSNP
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30 HGMD
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62 PubMed
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73 UMLS via Orphanet
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