SBHD
MCID: SBL008
MIFTS: 36

Sea-Blue Histiocyte Disease (SBHD) malady

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

Aliases & Classifications for Sea-Blue Histiocyte Disease

Aliases & Descriptions for Sea-Blue Histiocyte Disease:

Name: Sea-Blue Histiocyte Disease 54 50 24 66 13
Sea-Blue Histiocyte Syndrome 12 29 42 14 69
Sea-Blue Histiocytosis 50 24 56 66
Histiocytosis, Sea-Blue 50 24 29
Inherited Lipemic Splenomegaly 50
Sbhd 66

Characteristics:

Orphanet epidemiological data:

56
sea-blue histiocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

HPO:

32
sea-blue histiocyte disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 269600
Disease Ontology 12 DOID:4423
MeSH 42 D012618
NCIt 47 C85062
SNOMED-CT 64 37821003
Orphanet 56 ORPHA158029
UMLS via Orphanet 70 C0036489
ICD10 via Orphanet 34 D76.3
MedGen 40 C0036489
UMLS 69 C0036489

Summaries for Sea-Blue Histiocyte Disease

NIH Rare Diseases : 50 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 edema, splenomegaly and hepatomegaly. An important gene associated with Sea-Blue Histiocyte Disease is APOE (Apolipoprotein E), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway. Affiliated tissues include heart, bone and liver, and related phenotype is liver/biliary system.

UniProtKB/Swiss-Prot : 66 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: 269600

Related Diseases for Sea-Blue Histiocyte Disease

Graphical network of the top 20 diseases related to Sea-Blue Histiocyte Disease:



Diseases related to Sea-Blue Histiocyte Disease

Symptoms & Phenotypes for Sea-Blue Histiocyte Disease

Symptoms by clinical synopsis from OMIM:

269600

Clinical features from OMIM:

269600

Human phenotypes related to Sea-Blue Histiocyte Disease:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 56 32 Very frequent (99-80%) HP:0000969
2 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
3 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
4 retinopathy 56 32 Occasional (29-5%) HP:0000488
5 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
6 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
7 blepharitis 56 32 Very frequent (99-80%) HP:0000498
8 petechiae 56 32 Very frequent (99-80%) HP:0000967
9 mediastinal lymphadenopathy 56 32 Very frequent (99-80%) HP:0100721
10 pulmonary infiltrates 56 32 Frequent (79-30%) HP:0002113
11 hyperpigmentation of the skin 56 32 Occasional (29-5%) HP:0000953
12 hypopigmentation of the skin 56 32 Occasional (29-5%) HP:0001010
13 sea-blue histiocytosis 56 32 Very frequent (99-80%) HP:0001982
14 abnormality of the eye 32 HP:0000478
15 abnormal bleeding 56 Very frequent (99-80%)
16 cirrhosis 32 HP:0001394
17 absent axillary hair 32 HP:0002221

MGI Mouse Phenotypes related to Sea-Blue Histiocyte Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.8 APOE GBE1 LCAT

Drugs & Therapeutics for Sea-Blue Histiocyte Disease

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

Cochrane evidence based reviews: sea-blue histiocyte syndrome

Genetic Tests for Sea-Blue Histiocyte Disease

Genetic tests related to Sea-Blue Histiocyte Disease:

id Genetic test Affiliating Genes
1 Sea-Blue Histiocyte Syndrome 29
2 Sea-Blue Histiocytosis 29
3 Sea-Blue Histiocyte Disease 24 APOE

Anatomical Context for Sea-Blue Histiocyte Disease

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

39
Heart, Bone, Liver, Spleen, Bone Marrow, Skin, Eye

Publications for Sea-Blue Histiocyte Disease

Articles related to Sea-Blue Histiocyte Disease:

id Title Authors Year
1
Sea-blue histiocyte disease in siblings. ( 4193362 )
1970

Variations for Sea-Blue Histiocyte Disease

ClinVar genetic disease variations for Sea-Blue Histiocyte Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APOE APOE, 3-BP DEL, 499CTC deletion Pathogenic
2 APOE NM_000041.3(APOE): c.500_502delTCC (p.Leu167del) deletion Pathogenic rs515726148 GRCh37 Chromosome 19, 45412053: 45412055

Expression for Sea-Blue Histiocyte Disease

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

Pathways for Sea-Blue Histiocyte Disease

GO Terms for Sea-Blue Histiocyte Disease

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

id Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle GO:0034364 8.62 APOE LCAT

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

id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.43 APOE LCAT
2 cholesterol metabolic process GO:0008203 9.4 APOE LCAT
3 cholesterol homeostasis GO:0042632 9.37 APOE LCAT
4 lipoprotein metabolic process GO:0042157 9.32 APOE LCAT
5 reverse cholesterol transport GO:0043691 9.26 APOE LCAT
6 high-density lipoprotein particle remodeling GO:0034375 9.16 APOE LCAT
7 lipoprotein biosynthetic process GO:0042158 8.96 APOE LCAT
8 very-low-density lipoprotein particle remodeling GO:0034372 8.62 APOE LCAT

Sources for Sea-Blue Histiocyte Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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