MCID: SBL004
MIFTS: 29

Sea-Blue Histiocytosis malady

Rare diseases category
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Summaries for Sea-Blue Histiocytosis

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Wikipedia:65 Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an... more...

MalaCards based summary: Sea-Blue Histiocytosis, also known as sea-blue histiocyte disease, 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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Sea-Blue Histiocytosis, Aliases & Descriptions:

Name: Sea-Blue Histiocytosis 42
Sea-Blue Histiocyte Disease 42 62
 
Sea-Blue Histiocyte Syndrome 62
Histiocytosis, Sea-Blue 42


Classifications:

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


Related Diseases for Sea-Blue Histiocytosis

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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 disease30.9LCAT, SMPD1
2histiocytosis11.1
3thalassemia10.4
4sea-blue histiocyte syndrome10.4
5beta thalassemia10.4
6chronic granulomatous disease10.3
7leukemia10.3
8myelodysplastic syndromes10.3
9neutropenia10.3
10cholesterol ester storage disease10.3
11purpura10.3
12light chain deposition disease10.3
13splenomegaly10.3
14mucolipidosis10.2LCAT
15atherosclerosis9.9LCAT, SMPD1
16hypertriglyceridemia9.8LCAT, SMPD1
17metabolic syndrome x9.8SMPD1, 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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Drug clinical trials:

Search ClinicalTrials for Sea-Blue Histiocytosis

Search NIH Clinical Center for Sea-Blue Histiocytosis

Genetic Tests for Sea-Blue Histiocytosis

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Anatomical Context for Sea-Blue Histiocytosis

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MalaCards organs/tissues related to Sea-Blue Histiocytosis:

32
Bone marrow, Bone, Spleen

Animal Models for Sea-Blue Histiocytosis or affiliated genes

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MGI Mouse Phenotypes related to Sea-Blue Histiocytosis:

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

Publications for Sea-Blue Histiocytosis

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Articles related to Sea-Blue Histiocytosis:

(show all 37)
idTitleAuthorsYear
1
Double-balloon endoscopy reveals sea-blue histiocytosis affecting the small bowel (with video). (20630517)
2010
2
A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. (19411774)
2009
3
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. (19864213)
2009
4
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. (19592052)
2009
5
Secondary sea-blue histiocytosis derived from Niemann-Pick disease. (17510534)
2007
6
Acquired sea-blue histiocytosis in beta thalassemia major. (16761752)
2005
7
Idiopathic thrombocytopenic purpura associated with bone marrow sea-blue histiocytosis. (15558791)
2004
8
Severe autoimmune neutropenia associated with bone marrow sea-blue histiocytosis. (12199768)
2002
9
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. (11732877)
2001
10
Spleen localization of light chain deposition disease associated with sea blue histiocytosis, revealed by spontaneous rupture. (10389632)
1999
11
Sea-blue histiocytosis and pancytopaenia associated with chronic total parenteral nutrition administration. (9352150)
1997
12
Sea blue histiocytosis: a common abnormality of the bone marrow in myelodysplastic syndromes. (8254090)
1993
13
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. (1585241)
1992
14
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
15
Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. (2542678)
1989
16
Specificity of nerve changes in sea-blue histiocytosis. (3000287)
1985
17
Case report: approach to the diagnosis of sea-blue histiocytosis in a community setting. (3855466)
1985
18
Sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. (3000286)
1985
19
Chronic granulomatous disease of childhood and sea-blue histiocytosis. A pathologic study of an autopsy case. (6524383)
1984
20
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. (6478639)
1984
21
A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. (6089645)
1984
22
Sea blue histiocytosis associated with hyperlipoproteinemia type IIb. (6679679)
1983
23
Familial sea-blue histiocytosis with cutaneous involvement. A case report with ultrastructural findings. (6299321)
1983
24
Sea-blue histiocytosis. (6893662)
1980
25
Sea-blue histiocytosis: a new cause of malabsorption syndrome? (7362405)
1980
26
Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease. (315965)
1979
27
Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases. (628190)
1978
28
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
29
Sea-blue histiocytosis. (408245)
1977
30
Benign variant of familial sea-blue histiocytosis. (19403)
1977
31
Sea-blue histiocytosis associated with hyperlipidaemia. (977773)
1976
32
Sea-blue histiocytosis and beta-thalassemia in the same family. (1137725)
1975
33
Pathogenesis of one variant of sea-blue histiocytosis. (1081167)
1975
34
Sea-blue histiocytosis in hyperlipoproteinemia (cytomorphological, clinical and pathogenetic aspects). (4137920)
1974
35
Chronic granulocytic leukemia. Prolonged survival, muscle infiltration and sea-blue histiocytosis. (4123736)
1973
36
Letter: Sea-blue histiocytosis. (4800244)
1973
37
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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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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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:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Sea-Blue Histiocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylcholine449.3SMPD1, LCAT
2methionine449.2LCAT, SMPD1
3phospholipid449.2LCAT, SMPD1
4cholesterol44 28 24 1112.1LCAT, SMPD1
5serine449.1LCAT, SMPD1
6cysteine449.0SMPD1, LCAT
7lipid448.8SMPD1, LCAT

GO Terms for genes affiliated with Sea-Blue Histiocytosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet