MCID: SBL004
MIFTS: 17

Sea-Blue Histiocytosis malady

Summaries for Sea-Blue Histiocytosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 histiocytosis and niemann-pick disease. 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

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60UMLS, 42NIH Rare Diseases
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Aliases & Descriptions:

sea-blue histiocytosis 42
sea-blue histiocyte syndrome 60
sea-blue histiocyte disease 42
histiocytosis, sea-blue 42


Related Diseases for Sea-Blue Histiocytosis

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17GeneCards, 18GeneDecks
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Diseases related to Sea-Blue Histiocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis11.0
2niemann-pick disease10.7
3adult syndrome10.5
4sea-blue histiocyte syndrome10.4
5beta thalassemia10.4
6thalassemia10.4
7infectious mononucleosis10.3
8hepatitis10.3
9liver disease10.3
10porphyria10.3
11cholesterol ester storage disease10.2
12chronic granulomatous disease10.2
13leukemia10.2
14neutropenia10.2
15purpura10.2
16mucolipidosis10.0LCAT
17splenomegaly10.0LCAT
18niemann–pick disease10.0SMPD1
19cystic fibrosis10.0SMPD1
20hypertriglyceridemia10.0SMPD1, LCAT
21atherosclerosis10.0LCAT, SMPD1
22metabolic syndrome x10.0LCAT, SMPD1

Graphical network of the top 20 diseases related to Sea-Blue Histiocytosis:



Diseases related to sea-blue histiocytosis

Clinical Features for Sea-Blue Histiocytosis

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Drugs & Therapeutics for Sea-Blue Histiocytosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Sea-Blue Histiocytosis

Search CenterWatch for Sea-Blue Histiocytosis

Genetic Tests for Sea-Blue Histiocytosis

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Anatomical Context for Sea-Blue Histiocytosis

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Animal Models for Sea-Blue Histiocytosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sea-Blue Histiocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SMPD1, LCAT

Publications for Sea-Blue Histiocytosis

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Genetic Variations for Sea-Blue Histiocytosis

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Expression for genes affiliated with Sea-Blue Histiocytosis

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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

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Compounds for genes affiliated with Sea-Blue Histiocytosis

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylcholine449.2SMPD1, LCAT
2methionine449.1SMPD1, LCAT
3cysteine449.1SMPD1, LCAT
4phospholipid449.0LCAT, SMPD1
5cholesterol44 28 11 2411.8SMPD1, LCAT

GO Terms for genes affiliated with Sea-Blue Histiocytosis

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sea-Blue Histiocytosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet