MCID: SBL008
MIFTS: 36

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 52 48 24 70 12
Sea-Blue Histiocyte Syndrome 11 27 39 13 68
Sea-Blue Histiocytosis 48 24 54 70
 
Histiocytosis, Sea-Blue 48 24 27
Inherited Lipemic Splenomegaly 48
Sbhd 70

Characteristics:

Orphanet epidemiological data:

54
sea-blue histiocytosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

64
sea-blue histiocyte disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 269600
Disease Ontology11 DOID:4423
MeSH39 D012618
NCIt45 C85062
SNOMED-CT62 37821003
Orphanet54 ORPHA158029
UMLS via Orphanet69 C0036489
ICD10 via Orphanet31 D76.3
MedGen37 C0036489

Summaries for Sea-Blue Histiocyte Disease

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NIH Rare Diseases:48 Sea-blue histiocytosis, also known as inherited lipemic splenomegaly, is an extremely rare condition characterized by elevated triglyceride levels (hypertriglyceridemia) and an enlarged spleen (splenomegaly). The disorder is so named because certain white blood cells, known as histiocytes, appear bright blue when stained and viewed under the microscope. Additional signs and symptoms may include a low platelet count (thrombocytopenia), liver function abnormalities, and heart disease. It is one of a group of related fat (lipid) disorders caused by certain changes in the APOE gene. The genetic change associated with this condition is inherited in an autosomal dominant manner though other factors, such as a patient's gender, the patient's lipid levels, and the genetic makeup of the other APOE gene may play a role in how the condition is expressed. There are currently no formal treatment guidelines. Management may involve the coordinated care of several different specialists including cardiologists, gastroenterologists, and hematologists. Patients with splenomegaly should be careful to avoid contact sports. Removal of the spleen (splenectomy) has been reported to make the condition worse. Sea-blue histiocytes can also be a secondary finding associated with a wide range of disorders, including myelodysplastic syndromes, lymphomas, chronic myelogenous leukemia, idiopathic thrombocytopenic purpura, Niemann-Pick disease, and Norum disease. In these cases, treatment depends on the underlying disorder. Last updated: 12/9/2016

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 liver, heart and spleen, and related mouse phenotypes are cardiovascular system and liver/biliary system.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an... more...

Description from OMIM:52 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 & Phenotypes for Sea-Blue Histiocyte Disease

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Symptoms by clinical synopsis from OMIM:

269600

Clinical features from OMIM:

269600

Human phenotypes related to Sea-Blue Histiocyte Disease:

 64 54 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharitis64 54 hallmark (90%) Very frequent (99-80%) HP:0000498
2 edema64 54 hallmark (90%) Very frequent (99-80%) HP:0000969
3 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
4 thrombocytopenia64 54 hallmark (90%) Very frequent (99-80%) HP:0001873
5 abnormality of coagulation64 hallmark (90%) HP:0001928
6 subcutaneous hemorrhage64 hallmark (90%) HP:0001933
7 hepatomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002240
8 mediastinal lymphadenopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0100721
9 pulmonary infiltrates64 54 typical (50%) Frequent (79-30%) HP:0002113
10 retinopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000488
11 irregular hyperpigmentation64 occasional (7.5%) HP:0007400
12 abnormality of the eye64 HP:0000478
13 cirrhosis64 HP:0001394
14 sea-blue histiocytosis64 54 Very frequent (99-80%) HP:0001982
15 absent axillary hair64 HP:0002221
16 hyperpigmentation of the skin54 Occasional (29-5%)
17 petechiae54 Very frequent (99-80%)
18 hypopigmentation of the skin54 Occasional (29-5%)
19 subcutaneous nodule54 Very frequent (99-80%)
20 abnormal bleeding54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Sea-Blue Histiocyte Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.2APOE, GBE1, LCAT
2MP:00053708.5APOE, GBE1, LCAT

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 Syndrome27
2 Sea-Blue Histiocytosis27
3 Sea-Blue Histiocyte Disease24 APOE

Anatomical Context for Sea-Blue Histiocyte Disease

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

36
Liver, Heart, Spleen, Bone, Bone marrow, Skin, Eye

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, 499CTCdeletionPathogenicChr na, -1: -1

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
1cholesterol homeostasisGO:00426329.9APOE, LCAT
2cholesterol metabolic processGO:00082039.8APOE, LCAT
3high-density lipoprotein particle remodelingGO:00343759.8APOE, LCAT
4lipoprotein biosynthetic processGO:00421589.8APOE, LCAT
5lipoprotein metabolic processGO:00421579.7APOE, LCAT
6reverse cholesterol transportGO:00436919.5APOE, LCAT
7very-low-density lipoprotein particle remodelingGO:00343729.3APOE, LCAT

Sources for Sea-Blue Histiocyte Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet