MCID: SBL008
MIFTS: 35

Sea-Blue Histiocyte Disease malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Immune diseases

Aliases & Classifications for Sea-Blue Histiocyte Disease

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Aliases & Descriptions for Sea-Blue Histiocyte Disease:

Name: Sea-Blue Histiocyte Disease 50 46 68 12
Sea-Blue Histiocyte Syndrome 11 13 25 37 66
Sea-Blue Histiocytosis 46 52 68
 
Histiocytosis, Sea-Blue 46 25
Sbhd 68

Characteristics:

Orphanet epidemiological data:

52
sea-blue histiocytosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

62
sea-blue histiocyte disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 269600
Disease Ontology11 DOID:4423
MeSH37 D012618
NCIt43 C85062
SNOMED-CT60 37821003
Orphanet52 ORPHA158029
ICD10 via Orphanet29 D76.3
UMLS via Orphanet67 C0036489
MedGen35 C0036489

Summaries for Sea-Blue Histiocyte Disease

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UniProtKB/Swiss-Prot:68 Sea-blue histiocyte disease: Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.

MalaCards based summary: Sea-Blue Histiocyte Disease, also known as sea-blue histiocyte syndrome, is related to histiocytosis and pick disease, and has symptoms including blepharitis, edema and splenomegaly. An important gene associated with Sea-Blue Histiocyte Disease is APOE (Apolipoprotein E), and among its related pathways are Lipoprotein metabolism and Statin Pathway. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Description from OMIM:50 269600

Related Diseases for Sea-Blue Histiocyte Disease

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



Diseases related to sea-blue histiocyte disease

Symptoms for Sea-Blue Histiocyte Disease

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Symptoms by clinical synopsis from OMIM:

269600

Clinical features from OMIM:

269600

Symptoms:

 52 (show all 14)
  • retinopathy
  • blepharitis
  • hyperpigmentation of the skin
  • petechiae
  • edema
  • hypopigmentation of the skin
  • subcutaneous nodule
  • splenomegaly
  • thrombocytopenia
  • abnormal bleeding
  • sea-blue histiocytosis
  • pulmonary infiltrates
  • hepatomegaly
  • mediastinal lymphadenopathy

HPO human phenotypes related to Sea-Blue Histiocyte Disease:

(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 abnormality of the eye HP:0000478
13 cirrhosis HP:0001394
14 splenomegaly HP:0001744
15 thrombocytopenia HP:0001873
16 sea-blue histiocytosis HP:0001982
17 absent axillary hair HP:0002221

Drugs & Therapeutics for Sea-Blue Histiocyte Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Sea-Blue Histiocyte Disease


Cochrane evidence based reviews: sea-blue histiocyte syndrome

Genetic Tests for Sea-Blue Histiocyte Disease

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Genetic tests related to Sea-Blue Histiocyte Disease:

id Genetic test Affiliating Genes
1 Sea-Blue Histiocyte Syndrome25
2 Sea-Blue Histiocytosis25

Anatomical Context for Sea-Blue Histiocyte Disease

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

34
Bone, Bone marrow, Skin, Eye

Animal Models for Sea-Blue Histiocyte Disease or affiliated genes

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MGI Mouse Phenotypes related to Sea-Blue Histiocyte Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6APOE, GBE1, LCAT
2MP:00053858.5APOE, GBE1, LCAT

Publications for Sea-Blue Histiocyte Disease

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Articles related to Sea-Blue Histiocyte Disease:

idTitleAuthorsYear
1
Sea-blue histiocyte disease in siblings. (4193362)
1970

Variations for Sea-Blue Histiocyte Disease

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Clinvar genetic disease variations for Sea-Blue Histiocyte Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1APOENM_000041.3(APOE): c.500_502delTCC (p.Leu167del)deletionPathogenicrs515726148GRCh37Chr 19, 45412053: 45412055
2APOEAPOE, 3-BP DEL, 499CTCdeletionPathogenic

Expression for genes affiliated with Sea-Blue Histiocyte Disease

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

Pathways for genes affiliated with Sea-Blue Histiocyte Disease

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GO Terms for genes affiliated with Sea-Blue Histiocyte Disease

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Cellular components related to Sea-Blue Histiocyte Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:00343649.3APOE, LCAT

Biological processes related to Sea-Blue Histiocyte Disease according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:00421589.8APOE, LCAT
2very-low-density lipoprotein particle remodelingGO:00343729.7APOE, LCAT
3high-density lipoprotein particle remodelingGO:00343759.6APOE, LCAT
4reverse cholesterol transportGO:00436919.6APOE, LCAT
5lipoprotein metabolic processGO:00421579.6APOE, LCAT
6cholesterol metabolic processGO:00082039.3APOE, LCAT
7cholesterol homeostasisGO:00426329.0APOE, LCAT

Sources for Sea-Blue Histiocyte Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet