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 51 47 24 69 12
Sea-Blue Histiocyte Syndrome 11 26 38 13 67
Sea-Blue Histiocytosis 47 24 53 69
Histiocytosis, Sea-Blue 47 24 26
Inherited Lipemic Splenomegaly 47
Sbhd 69


Orphanet epidemiological data:

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


sea-blue histiocyte disease:
Inheritance: autosomal recessive inheritance


External Ids:

OMIM51 269600
Disease Ontology11 DOID:4423
MeSH38 D012618
NCIt44 C85062
SNOMED-CT61 37821003
Orphanet53 ORPHA158029
UMLS via Orphanet68 C0036489
ICD10 via Orphanet30 D76.3
MedGen36 C0036489

Summaries for Sea-Blue Histiocyte Disease

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NIH Rare Diseases:47 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:69 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:70 Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an... more...

Description from OMIM:51 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:


Clinical features from OMIM:


Human phenotypes related to Sea-Blue Histiocyte Disease:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharitis63 53 hallmark (90%) Very frequent (99-80%) HP:0000498
2 edema63 53 hallmark (90%) Very frequent (99-80%) HP:0000969
3 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
4 thrombocytopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001873
5 abnormality of coagulation63 hallmark (90%) HP:0001928
6 subcutaneous hemorrhage63 hallmark (90%) HP:0001933
7 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
8 mediastinal lymphadenopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0100721
9 pulmonary infiltrates63 53 typical (50%) Frequent (79-30%) HP:0002113
10 retinopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0000488
11 irregular hyperpigmentation63 occasional (7.5%) HP:0007400
12 abnormality of the eye63 HP:0000478
13 cirrhosis63 HP:0001394
14 sea-blue histiocytosis63 53 Very frequent (99-80%) HP:0001982
15 absent axillary hair63 HP:0002221
16 hyperpigmentation of the skin53 Occasional (29-5%)
17 petechiae53 Very frequent (99-80%)
18 hypopigmentation of the skin53 Occasional (29-5%)
19 subcutaneous nodule53 Very frequent (99-80%)
20 abnormal bleeding53 Very frequent (99-80%)

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 Syndrome26
2 Sea-Blue Histiocytosis26
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:

Liver, Heart, Spleen, 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:

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

Publications for Sea-Blue Histiocyte Disease

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Articles related to Sea-Blue Histiocyte Disease:

Sea-blue histiocyte disease in siblings. (4193362)

Variations for Sea-Blue Histiocyte Disease

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Clinvar genetic disease variations for Sea-Blue Histiocyte Disease:

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
1lipoprotein biosynthetic processGO:00421589.8APOE, LCAT
2very-low-density lipoprotein particle remodelingGO:00343729.7APOE, LCAT
3high-density lipoprotein particle remodelingGO:00343759.7APOE, LCAT
4reverse cholesterol transportGO:00436919.7APOE, LCAT
5lipoprotein metabolic processGO:00421579.6APOE, LCAT
6cholesterol metabolic processGO:00082039.3APOE, LCAT
7cholesterol homeostasisGO:00426329.2APOE, LCAT

Sources for Sea-Blue Histiocyte Disease

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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet