MCID: SBL004
MIFTS: 17

Sea-Blue Histiocytosis malady

Summaries for Sea-Blue Histiocytosis

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64Wikipedia, 33MalaCards
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Wikipedia:64 Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an... more...

MalaCards: Sea-Blue Histiocytosis, also known as sea-blue histiocyte syndrome, is related to niemann–pick disease and splenomegaly. An important gene associated with Sea-Blue Histiocytosis is SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal). The compounds phosphatidylcholine and methionine have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Sea-Blue Histiocytosis

Sources:
61UMLS, 43NIH Rare Diseases
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Aliases & Descriptions:

sea-blue histiocytosis 43
sea-blue histiocyte syndrome 61
sea-blue histiocyte disease 43
histiocytosis, sea-blue 43


Related Diseases for Sea-Blue Histiocytosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sea-Blue Histiocytosis:



Diseases related to sea-blue histiocytosis

Clinical Features for Sea-Blue Histiocytosis

Drugs & Therapeutics for Sea-Blue Histiocytosis

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Sea-Blue Histiocytosis

Anatomical Context for Sea-Blue Histiocytosis

Animal Models for Sea-Blue Histiocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Sea-Blue Histiocytosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SMPD1, LCAT

Publications for Sea-Blue Histiocytosis

Genetic Variations for Sea-Blue Histiocytosis

Expression for genes affiliated with Sea-Blue Histiocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sea-Blue Histiocytosis

Search GEO for disease gene expression data for Sea-Blue Histiocytosis.

Pathways for genes affiliated with Sea-Blue Histiocytosis

Compounds for genes affiliated with Sea-Blue Histiocytosis

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylcholine459.2LCAT, SMPD1
2methionine459.1LCAT, SMPD1
3cysteine459.1LCAT, SMPD1
4phospholipid459.0SMPD1, LCAT
5cholesterol45 29 11 2411.8LCAT, SMPD1

GO Terms for genes affiliated with Sea-Blue Histiocytosis

Sources:
16Gene Ontology
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Cellular components related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1SMPD1, LCAT

Products for genes affiliated with Sea-Blue Histiocytosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sea-Blue Histiocytosis

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