ALDD
MCID: NKJ002
MIFTS: 14

Nakajo Nishimura Syndrome (ALDD) malady

Rare diseases, Skin diseases categories
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Summaries for Nakajo Nishimura Syndrome

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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 based summary: Nakajo Nishimura Syndrome, also known as nakajo-nishimura syndrome, is related to autoinflammation, lipodystrophy, and dermatosis syndrome and nakajo syndrome. Affiliated tissues include skin.

Aliases & Classifications for Nakajo Nishimura Syndrome

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Nakajo Nishimura Syndrome, Aliases & Descriptions:

Name: Nakajo Nishimura Syndrome 42
Nakajo-Nishimura Syndrome 21 62
Nakajo Syndrome 21 62
Aldd 21 62
Nkjo 21 62
 
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 21
Japanese Autoinflammatory Syndrome with Lipodystrophy 21
Amyotrophy Fat Tissue Anomaly 42
Jasl 21


Classifications:

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


Related Diseases for Nakajo Nishimura Syndrome

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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 syndrome10.7
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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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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MalaCards organs/tissues related to Nakajo Nishimura Syndrome:

32
Skin

Animal Models for Nakajo Nishimura Syndrome or affiliated genes

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Publications for Nakajo Nishimura Syndrome

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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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Expression for genes affiliated with Nakajo Nishimura Syndrome

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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

Sources for Nakajo Nishimura Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet