ALDD
MCID: NKJ002
MIFTS: 13

Nakajo Nishimura Syndrome (ALDD) malady

Rare diseases, Skin diseases categories

Summaries for Nakajo Nishimura Syndrome

About this section
Sources:
22Genetics Home Reference, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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 autoinflammation, lipodystrophy, and dermatosis syndrome and nakajo syndrome.

Aliases & Classifications for Nakajo Nishimura Syndrome

About this section
Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 63UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

nakajo nishimura syndrome 44
nakajo syndrome 22 63
autoinflammation, lipodystrophy, and dermatosis syndrome 22
japanese autoinflammatory syndrome with lipodystrophy 22
amyotrophy fat tissue anomaly 44
nakajo-nishimura syndrome 22
jasl 22
aldd 22
nkjo 22


Related Diseases for Nakajo Nishimura Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1autoinflammation, lipodystrophy, and dermatosis syndrome10.6
2nakajo syndrome10.5
3lipodystrophy10.4
4liver disease10.1

Symptoms for Nakajo Nishimura Syndrome

About this section

Drugs & Therapeutics for Nakajo Nishimura Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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

About this section

Anatomical Context for Nakajo Nishimura Syndrome

About this section

Animal Models for Nakajo Nishimura Syndrome or affiliated genes

About this section

Publications for Nakajo Nishimura Syndrome

About this section
Sources:
53PubMed
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

Variations for Nakajo Nishimura Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Nakajo Nishimura Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PSMB8NM_004159.4(PSMB8): c.590G> T (p.Gly197Val)single nucleotide variantPathogenicrs387906680GRCh37Chr 6, 32809448: 32809448

Expression for genes affiliated with Nakajo Nishimura Syndrome

About this section
Sources:
16Gene Expression Omnibus DataSets
See all sources

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

Pathways for genes affiliated with Nakajo Nishimura Syndrome

About this section

Compounds for genes affiliated with Nakajo Nishimura Syndrome

About this section

GO Terms for genes affiliated with Nakajo Nishimura Syndrome

About this section

Products for genes affiliated with Nakajo Nishimura Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nakajo Nishimura Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet