MCID: SBL004
MIFTS: 29

Sea-Blue Histiocytosis malady

Rare diseases category

Summaries for Sea-Blue Histiocytosis

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 histiocytosis. An important gene associated with Sea-Blue Histiocytosis is SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal), and among its related pathways is Metabolism. The compounds phosphatidylcholine and methionine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related mouse phenotype liver/biliary system.

Aliases & Classifications for Sea-Blue Histiocytosis

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44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

sea-blue histiocytosis 44
sea-blue histiocyte syndrome 63
sea-blue histiocyte disease 44
histiocytosis, sea-blue 44


Related Diseases for Sea-Blue Histiocytosis

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18GeneCards, 19GeneDecks
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Diseases related to Sea-Blue Histiocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.0LCAT, SMPD1
2histiocytosis11.1
3sea-blue histiocyte syndrome10.4
4beta thalassemia10.4
5thalassemia10.4
6chronic granulomatous disease10.3
7cholesterol ester storage disease10.3
8leukemia10.3
9neutropenia10.3
10purpura10.3
11light chain deposition disease10.3
12myelodysplastic syndromes10.3
13splenomegaly10.3
14mucolipidosis10.1LCAT
15atherosclerosis10.0LCAT, SMPD1
16hypertriglyceridemia10.0LCAT, SMPD1
17metabolic syndrome x9.9SMPD1, LCAT

Graphical network of diseases related to Sea-Blue Histiocytosis:



Diseases related to sea-blue histiocytosis

Symptoms for Sea-Blue Histiocytosis

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Drugs & Therapeutics for Sea-Blue Histiocytosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Sea-Blue Histiocytosis

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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Sources:
34MalaCards
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MalaCards organs/tissues related to Sea-Blue Histiocytosis:

34
Bone marrow, Bone, Spleen

Animal Models for Sea-Blue Histiocytosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sea-Blue Histiocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1LCAT, SMPD1

Publications for Sea-Blue Histiocytosis

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53PubMed
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Articles related to Sea-Blue Histiocytosis:

(show all 38)
idTitleAuthorsYear
1
Pulmonary involvement in sea-blue histiocytosis. (22779941)
2012
2
Double-balloon endoscopy reveals sea-blue histiocytosis affecting the small bowel (with video). (20630517)
2010
3
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
4
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. (19864213)
2009
5
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. (19592052)
2009
6
Secondary sea-blue histiocytosis derived from Niemann-Pick disease. (17510534)
2007
7
Acquired sea-blue histiocytosis in beta thalassemia major. (16761752)
2005
8
Idiopathic thrombocytopenic purpura associated with bone marrow sea-blue histiocytosis. (15558791)
2004
9
Severe autoimmune neutropenia associated with bone marrow sea-blue histiocytosis. (12199768)
2002
10
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. (11732877)
2001
11
Spleen localization of light chain deposition disease associated with sea blue histiocytosis, revealed by spontaneous rupture. (10389632)
1999
12
Sea-blue histiocytosis and pancytopaenia associated with chronic total parenteral nutrition administration. (9352150)
1997
13
Sea blue histiocytosis: a common abnormality of the bone marrow in myelodysplastic syndromes. (8254090)
1993
14
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. (1585241)
1992
15
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. (2120445)
1990
16
Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. (2542678)
1989
17
Specificity of nerve changes in sea-blue histiocytosis. (3000287)
1985
18
Case report: approach to the diagnosis of sea-blue histiocytosis in a community setting. (3855466)
1985
19
Sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. (3000286)
1985
20
Chronic granulomatous disease of childhood and sea-blue histiocytosis. A pathologic study of an autopsy case. (6524383)
1984
21
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. (6478639)
1984
22
A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. (6089645)
1984
23
Sea blue histiocytosis associated with hyperlipoproteinemia type IIb. (6679679)
1983
24
Familial sea-blue histiocytosis with cutaneous involvement. A case report with ultrastructural findings. (6299321)
1983
25
Sea-blue histiocytosis. (6893662)
1980
26
Sea-blue histiocytosis: a new cause of malabsorption syndrome? (7362405)
1980
27
Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease. (315965)
1979
28
Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases. (628190)
1978
29
Children sea-blue histiocytosis (2 cases) compared with phospholipidosis induced by 4-4' DET (4-4' p (diethylamino-2-ethoxy phenyl) 3-4 hexane) in rat. (193589)
1977
30
Sea-blue histiocytosis. (408245)
1977
31
Benign variant of familial sea-blue histiocytosis. (19403)
1977
32
Sea-blue histiocytosis associated with hyperlipidaemia. (977773)
1976
33
Sea-blue histiocytosis and beta-thalassemia in the same family. (1137725)
1975
34
Pathogenesis of one variant of sea-blue histiocytosis. (1081167)
1975
35
Sea-blue histiocytosis in hyperlipoproteinemia (cytomorphological, clinical and pathogenetic aspects). (4137920)
1974
36
Chronic granulocytic leukemia. Prolonged survival, muscle infiltration and sea-blue histiocytosis. (4123736)
1973
37
Letter: Sea-blue histiocytosis. (4800244)
1973
38
Sea-blue histiocytosis. A further case report. (5079692)
1972

Variations for Sea-Blue Histiocytosis

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Expression for genes affiliated with Sea-Blue Histiocytosis

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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 31KEGG
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Pathways related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1LCAT, SMPD1

Compounds for genes affiliated with Sea-Blue Histiocytosis

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylcholine469.3LCAT, SMPD1
2methionine469.2LCAT, SMPD1
3phospholipid469.2LCAT, SMPD1
4cholesterol46 30 25 1212.1SMPD1, LCAT
5serine469.1LCAT, SMPD1
6cysteine469.0LCAT, SMPD1
7lipid468.8LCAT, SMPD1

GO Terms for genes affiliated with Sea-Blue Histiocytosis

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17Gene Ontology
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Cellular components related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

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

Biological processes related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1LCAT, SMPD1

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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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