ALDD
MCID: NKJ002
MIFTS: 16

Nakajo Nishimura Syndrome (ALDD) malady

Summaries for Nakajo Nishimura Syndrome

Sources:
21Genetics Home Reference, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).

MalaCards: Nakajo Nishimura Syndrome, also known as nakajo syndrome, is related to n syndrome and nakajo syndrome. An important gene associated with Nakajo Nishimura Syndrome is PSMB8 (proteasome (prosome, macropain) subunit, beta type, 8). Affiliated tissues include skin.

Aliases & Classifications for Nakajo Nishimura Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS
See all sources

Aliases & Descriptions:

nakajo nishimura syndrome 43
nakajo syndrome 21 61
autoinflammation, lipodystrophy, and dermatosis syndrome 21
japanese autoinflammatory syndrome with lipodystrophy 21
amyotrophy fat tissue anomaly 43
nakajo-nishimura syndrome 21
nkjo 21
aldd 21
jasl 21


Related Diseases for Nakajo Nishimura Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Nakajo Nishimura Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.6
2nakajo syndrome10.6
3autoinflammation, lipodystrophy, and dermatosis syndrome10.6

Clinical Features for Nakajo Nishimura Syndrome

Drugs & Therapeutics for Nakajo Nishimura Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Nakajo Nishimura Syndrome

Drug clinical trials:

Search ClinicalTrials for Nakajo Nishimura Syndrome

Search NIH Clinical Center for Nakajo Nishimura Syndrome

Search CenterWatch for Nakajo Nishimura Syndrome

Genetic Tests for Nakajo Nishimura Syndrome

Anatomical Context for Nakajo Nishimura Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Nakajo Nishimura Syndrome:

33
Skin

Animal Models for Nakajo Nishimura Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Nakajo Nishimura Syndrome

Sources:
51PubMed
See all sources

Articles related to Nakajo Nishimura Syndrome:

idTitleAuthorsYear
1
A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. (23942189)
2013
2
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. (22441638)
2012
3
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo- Nishimura syndrome. (21852578)
2011

Genetic Variations for Nakajo Nishimura Syndrome

Expression for genes affiliated with Nakajo Nishimura Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Nakajo Nishimura Syndrome

Search GEO for disease gene expression data for Nakajo Nishimura Syndrome.

Pathways for genes affiliated with Nakajo Nishimura Syndrome

Compounds for genes affiliated with Nakajo Nishimura Syndrome

GO Terms for genes affiliated with Nakajo Nishimura Syndrome

Products for genes affiliated with Nakajo Nishimura Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nakajo Nishimura Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet