MCID: SBL002
MIFTS: 39

Sea-Blue Histiocyte Syndrome malady

Bone diseases, Rare diseases, Immune diseases categories
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Summaries for Sea-Blue Histiocyte Syndrome

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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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: Sea-Blue Histiocyte Syndrome, also known as sea-blue histiocyte disease, is related to histiocytosis and niemann-pick disease, and has symptoms including irregular/in bands/reticular skin hyperpigmentation, retinopathy and lung/pulmonary infiltrates. An important gene associated with Sea-Blue Histiocyte Syndrome is APOE (apolipoprotein E), and among its related pathways is Metabolism. Affiliated tissues include bone, liver and skin, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Description from OMIM:47 269600

Aliases & Classifications for Sea-Blue Histiocyte Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

49
sea-blue histiocytosis:
Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

sea-blue histiocyte syndrome 8 10 62
sea-blue histiocyte disease 9 22 47
sea-blue histiocytosis 49


External Ids:

Disease Ontology8 DOID:4423
MeSH35 D012618
OMIM47 269600
NCIt40 C85062
SNOMED-CT58 37821003
UMLS via Orphanet63 C0036489
SNOMED-CT via Orphanet59 37821003
ICD10 via Orphanet26 D76.3

Related Diseases for Sea-Blue Histiocyte Syndrome

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis11.1
2niemann-pick disease10.6
3beta thalassemia10.4
4thalassemia10.4
5infectious mononucleosis10.3
6hepatitis10.3
7porphyria10.3
8sea-blue histiocytosis10.3
9chronic granulomatous disease10.3
10cholesterol ester storage disease10.3
11leukemia10.3
12neutropenia10.3
13purpura10.3
14light chain deposition disease10.3
15myelodysplastic syndromes10.3
16splenomegaly10.3

Graphical network of diseases related to Sea-Blue Histiocyte Syndrome:



Diseases related to sea-blue histiocyte syndrome

Symptoms for Sea-Blue Histiocyte Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

269600

Clinical features from OMIM:

269600

Symptoms:

49 (show all 12)
  • irregular/in bands/reticular skin hyperpigmentation
  • retinopathy
  • lung/pulmonary infiltrates
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • thrombocytopenia/thrombopenia
  • mediastinal/hilar adenopathies
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • purpura/petichiae
  • cutaneous edema
  • blepharitis/eyelid inflammation

Drugs & Therapeutics for Sea-Blue Histiocyte Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Sea-Blue Histiocyte Syndrome

Search NIH Clinical Center for Sea-Blue Histiocyte Syndrome

Genetic Tests for Sea-Blue Histiocyte Syndrome

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Sources:
22GTR
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Genetic tests related to Sea-Blue Histiocyte Syndrome:

id Genetic test Affiliating Genes
1 Sea-Blue Histiocyte Syndrome22

Anatomical Context for Sea-Blue Histiocyte Syndrome

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Sources:
33MalaCards
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MalaCards organs/tissues related to Sea-Blue Histiocyte Syndrome:

33
Bone, Liver, Skin, Lung, Bone marrow

Animal Models for Sea-Blue Histiocyte Syndrome or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Sea-Blue Histiocyte Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1APOE, GBE1
2MP:00053859.1APOE, GBE1
3MP:00053889.0APOE, GBE1
4MP:00053698.8APOE, GBE1

Publications for Sea-Blue Histiocyte Syndrome

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Sources:
52PubMed
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Articles related to Sea-Blue Histiocyte Syndrome:

(show all 16)
idTitleAuthorsYear
1
Successful pregnancy in a patient with familial sea-blue histiocyte syndrome. (11221166)
2000
2
Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition. (9613982)
1998
3
Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition including fat-emulsion sources: a clinicopathologic study of seven cases. (8904878)
1996
4
Liver lesion on computed tomography and ultrasonography in adult Niemann Pick disease related to sea blue histiocyte syndrome--a case report. (8325590)
1993
5
Sea-blue histiocyte syndrome with cutaneous involvement. Case report with ultrastructural findings. (3803674)
1987
6
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. (4073013)
1985
7
Sea-blue histiocyte syndrome. A secondary degenerative process of macrophages? (6892519)
1980
8
Sea-blue histiocyte syndrome with bone anomalies. (757536)
1978-1979
9
Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease. (100330)
1978
10
Sea-blue histiocyte syndrome in Thai siblings. (410219)
1977
11
Sea blue histiocyte syndrome. (4133822)
1974
12
The sea-blue histiocyte syndrome, a review: genetic and biochemical studies. (4114368)
1972
13
The sea-blue histiocyte syndrome with hepatic porphyria and infectious mononucleosis. (4119308)
1972
14
Sea-blue histiocyte syndrome in an octagenarian. (4105006)
1971
15
The sea-blue histiocyte syndrome. (4191343)
1970
16
Sea-blue-histiocyte syndrome. (4195998)
1970

Variations for Sea-Blue Histiocyte Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Sea-Blue Histiocyte Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1APOEAPOE, 3-BP DEL, 499CTCdeletionPathogenic/card/sea_blue_histiocyte_syndrome

Expression for genes affiliated with Sea-Blue Histiocyte Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sea-Blue Histiocyte Syndrome

Search GEO for disease gene expression data for Sea-Blue Histiocyte Syndrome.

Pathways for genes affiliated with Sea-Blue Histiocyte Syndrome

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Sources:
50PathCards, 55Reactome, 30KEGG
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Pathways related to Sea-Blue Histiocyte Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1APOE, GBE1

Compounds for genes affiliated with Sea-Blue Histiocyte Syndrome

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GO Terms for genes affiliated with Sea-Blue Histiocyte Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.1APOE, GBE1

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

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1APOE, GBE1

Products for genes affiliated with Sea-Blue Histiocyte Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Sea-Blue Histiocyte Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet