ALDD
MCID: NKJ002
MIFTS: 13

Nakajo Nishimura Syndrome (ALDD) malady

Rare diseases, Skin diseases categories
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Summaries for Nakajo Nishimura Syndrome

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Sources:
21Genetics Home Reference, 33MalaCards
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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 autoinflammation, lipodystrophy, and dermatosis syndrome and nakajo syndrome.

Aliases & Classifications for Nakajo Nishimura Syndrome

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 62UMLS
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Classifications:

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


Aliases & Descriptions:

nakajo nishimura syndrome 43
nakajo syndrome 21 62
autoinflammation, lipodystrophy, and dermatosis syndrome 21
japanese autoinflammatory syndrome with lipodystrophy 21
amyotrophy fat tissue anomaly 43
nakajo-nishimura syndrome 21
jasl 21
aldd 21
nkjo 21


Related Diseases for Nakajo Nishimura Syndrome

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17GeneCards, 18GeneDecks
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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

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Drugs & Therapeutics for Nakajo Nishimura Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Nakajo Nishimura Syndrome

Genetic Tests for Nakajo Nishimura Syndrome

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Anatomical Context for Nakajo Nishimura Syndrome

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Animal Models for Nakajo Nishimura Syndrome or affiliated genes

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Publications for Nakajo Nishimura Syndrome

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52PubMed
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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

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1 National Center for Biotechnology Information (Clinvar)
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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

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Nakajo Nishimura Syndrome.

Pathways for genes affiliated with Nakajo Nishimura Syndrome

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Compounds for genes affiliated with Nakajo Nishimura Syndrome

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GO Terms for genes affiliated with Nakajo Nishimura Syndrome

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Products for genes affiliated with Nakajo Nishimura Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nakajo Nishimura Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet