MCID: SBL002
MIFTS: 40

Sea-Blue Histiocyte Syndrome malady

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

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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 Histiocyte Syndrome, also known as sea-blue histiocyte disease, is related to histiocytosis and niemann-pick disease, and has symptoms including blepharitis/eyelid inflammation, cutaneous edema and purpura/petichiae. 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 lung, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Description from OMIM:46 269600

Aliases & Classifications for Sea-Blue Histiocyte Syndrome

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 9diseasecard, 22GTR, 46OMIM, 48Orphanet, 39NCIt, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Sea-Blue Histiocyte Syndrome, Aliases & Descriptions:

Name: Sea-Blue Histiocyte Syndrome 8 10 62
Sea-Blue Histiocyte Disease 9 22 46
 
Histiocytosis, Sea-Blue 62
Sea-Blue Histiocytosis 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
sea-blue histiocytosis:
Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

Disease Ontology8 DOID:4423
NCIt39 C85062
OMIM46 269600
SNOMED-CT57 37821003
MeSH34 D012618
ICD10 via Orphanet26 D76.3
UMLS via Orphanet63 C0036489

Related Diseases for Sea-Blue Histiocyte Syndrome

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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
3thalassemia10.4
4beta thalassemia10.4
5hepatitis10.4
6infectious mononucleosis10.4
7porphyria10.4
8sea-blue histiocytosis10.4
9chronic granulomatous disease10.3
10leukemia10.3
11myelodysplastic syndromes10.3
12neutropenia10.3
13cholesterol ester storage disease10.3
14purpura10.3
15light chain deposition disease10.3
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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Symptoms by clinical synopsis from OMIM:

269600

Clinical features from OMIM:

269600

Symptoms:

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

HPO human phenotypes related to Sea-Blue Histiocyte Syndrome:

(show all 17)
id Description Frequency HPO Source Accession
1 blepharitis hallmark (90%) HP:0000498
2 edema hallmark (90%) HP:0000969
3 splenomegaly hallmark (90%) HP:0001744
4 thrombocytopenia hallmark (90%) HP:0001873
5 abnormality of coagulation hallmark (90%) HP:0001928
6 subcutaneous hemorrhage hallmark (90%) HP:0001933
7 hepatomegaly hallmark (90%) HP:0002240
8 mediastinal lymphadenopathy hallmark (90%) HP:0100721
9 pulmonary infiltrates typical (50%) HP:0002113
10 retinopathy occasional (7.5%) HP:0000488
11 irregular hyperpigmentation occasional (7.5%) HP:0007400
12 autosomal recessive inheritance HP:0000007
13 abnormality of the eye HP:0000478
14 cirrhosis HP:0001394
15 splenomegaly HP:0001744
16 thrombocytopenia HP:0001873
17 absent axillary hair HP:0002221

Drugs & Therapeutics for Sea-Blue Histiocyte Syndrome

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

32
Bone, Liver, Lung, Skin, Bone marrow

Animal Models for Sea-Blue Histiocyte Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Sea-Blue Histiocyte Syndrome:

36
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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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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Clinvar genetic disease variations for Sea-Blue Histiocyte Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1APOEAPOE, 3-BP DEL, 499CTCdeletionPathogenic

Expression for genes affiliated with Sea-Blue Histiocyte Syndrome

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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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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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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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Sources for Sea-Blue Histiocyte Syndrome

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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