SBHD
MCID: SBL008
MIFTS: 49

Sea-Blue Histiocyte Disease (SBHD)

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

Aliases & Classifications for Sea-Blue Histiocyte Disease

MalaCards integrated aliases for Sea-Blue Histiocyte Disease:

Name: Sea-Blue Histiocyte Disease 58 54 76 38 13
Sea-Blue Histiocytosis 58 12 77 54 60 76 15
Sea-Blue Histiocyte Syndrome 12 30 6 45 41 74
Histiocytosis, Sea-Blue 58 54
Inherited Lipemic Splenomegaly 54
Sbhd 76

Characteristics:

Orphanet epidemiological data:

60
sea-blue histiocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal recessive
? same as the adult, chronic or b form of niemann-pick disease


HPO:

33
sea-blue histiocyte disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sea-Blue Histiocyte Disease

NIH Rare Diseases : 54 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.

MalaCards based summary : Sea-Blue Histiocyte Disease, also known as sea-blue histiocytosis, is related to niemann-pick disease, type b and histiocytosis. An important gene associated with Sea-Blue Histiocyte Disease is APOE (Apolipoprotein E), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include bone, spleen and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.

UniProtKB/Swiss-Prot : 76 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 : 77 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

Diseases related to Sea-Blue Histiocyte Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 30.5 LCAT SMPD1
2 histiocytosis 10.9
3 niemann-pick disease 10.5
4 familial lcat deficiency 10.3 APOE LCAT
5 beta-thalassemia 10.2
6 thalassemia 10.2
7 aortic atherosclerosis 10.1 APOE LDLR
8 porphyria 10.1
9 smith-lemli-opitz syndrome 10.1 APOE LDLR
10 thrombocytopenic purpura, autoimmune 10.1
11 osteogenic sarcoma 10.1
12 chronic granulomatous disease 10.1
13 leukemia 10.1
14 neutropenia 10.1
15 thrombocytopenia 10.1
16 cholesterol ester storage disease 10.1
17 purpura 10.1
18 light chain deposition disease 10.1
19 splenomegaly 10.1
20 xanthoma disseminatum 10.0 APOB APOE
21 hypercholesterolemia, autosomal recessive 10.0 LDLR PCSK9
22 huntington disease-like 1 10.0 APOB APOE
23 hyperlipoproteinemia, type v 10.0 APOB APOE
24 leukodystrophy, hypomyelinating, 3 10.0 APOB APOE
25 schnyder corneal dystrophy 10.0 APOB APOE
26 ischemic heart disease 9.9 APOB APOE
27 fetal macrosomia 9.9 APOB LCAT
28 hypertriglyceridemia, familial 9.9 APOB APOE
29 hypobetalipoproteinemia, familial, 1 9.8 APOB PCSK9
30 hypolipoproteinemia 9.8 LCAT APOE APOB
31 tangier disease 9.8 LCAT APOE APOB
32 hypobetalipoproteinemia, familial, 2 9.8 APOB PCSK9
33 carotid artery disease 9.8 APOB APOE
34 hypercholesterolemia, autosomal dominant, type b 9.8 LDLR APOE APOB
35 xanthomatosis 9.7 LDLR APOE APOB
36 hyperlipoproteinemia, type iii 9.7 LDLR APOE APOB
37 hypoalphalipoproteinemia, primary 9.7 LDLR LCAT APOB
38 gallbladder disease 9.7 APOB APOE
39 arteries, anomalies of 9.7 APOB APOE LDLR
40 atherosclerosis susceptibility 9.7 APOB APOE LDLR
41 cerebrovascular disease 9.7 APOB APOE LDLR
42 vascular disease 9.7 APOB APOE LDLR
43 peripheral artery disease 9.7 APOB PCSK9
44 coronary stenosis 9.7 PCSK9 APOE APOB
45 lipoprotein glomerulopathy 9.6 LDLR LCAT APOE APOB
46 hyperalphalipoproteinemia 1 9.6 LDLR LCAT APOE APOB
47 lecithin:cholesterol acyltransferase deficiency 9.6 LDLR LCAT APOE APOB
48 abetalipoproteinemia 9.6 LDLR LCAT APOE APOB
49 familial hyperlipidemia 9.6 LDLR LCAT APOE APOB
50 lipid metabolism disorder 9.6 LDLR LCAT APOE APOB

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

Human phenotypes related to Sea-Blue Histiocyte Disease:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
4 edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000969
5 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
6 blepharitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000498
7 petechiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000967
8 mediastinal lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100721
9 sea-blue histiocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001982
10 pulmonary infiltrates 60 33 frequent (33%) Frequent (79-30%) HP:0002113
11 retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000488
12 hyperpigmentation of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000953
13 hypopigmentation of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0001010
14 abnormality of the eye 33 HP:0000478
15 abnormal bleeding 60 Very frequent (99-80%)
16 cirrhosis 33 HP:0001394
17 absent axillary hair 33 HP:0002221

Symptoms via clinical synopsis from OMIM:

58
G I:
splenomegaly
cirrhosis

Heme:
mild thrombocytopenia

Lab:
numerous bone marrow histiocytes with cytoplasmic granules which stain bright blue with the usual hematologic stains

Hair:
absent axillary hair

Eyes:
white ring surrounding the macula

Clinical features from OMIM:

269600

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 APOB APOE LDLR PCSK9
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Sea-Blue Histiocyte Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 APOB APOE LCAT LDLR PCSK9 SMPD1

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:

# Genetic test Affiliating Genes
1 Sea-Blue Histiocyte Syndrome 30 APOE

Anatomical Context for Sea-Blue Histiocyte Disease

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

42
Bone, Spleen, Bone Marrow, Skin, Eye

Publications for Sea-Blue Histiocyte Disease

Articles related to Sea-Blue Histiocyte Disease:

(show all 42)
# Title Authors Year
1
Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma. ( 27408409 )
2016
2
Sea-blue histiocytosis in bone marrow of a patient with chronic thrombocytopenia. ( 25413372 )
2015
3
Pulmonary involvement in sea-blue histiocytosis. ( 22779941 )
2012
4
Double-balloon endoscopy reveals sea-blue histiocytosis affecting the small bowel (with video). ( 20630517 )
2010
5
[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. ( 19411774 )
2009
6
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. ( 19592052 )
2009
7
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 19864213 )
2009
8
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 30256875 )
2009
9
Secondary sea-blue histiocytosis derived from Niemann-Pick disease. ( 17510534 )
2007
10
Acquired sea-blue histiocytosis in beta thalassemia major. ( 16761752 )
2005
11
Idiopathic thrombocytopenic purpura associated with bone marrow sea-blue histiocytosis. ( 15558791 )
2004
12
Severe autoimmune neutropenia associated with bone marrow sea-blue histiocytosis. ( 12199768 )
2002
13
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. ( 11732877 )
2001
14
Spleen localization of light chain deposition disease associated with sea blue histiocytosis, revealed by spontaneous rupture. ( 10389632 )
1999
15
Sea-blue histiocytosis and pancytopaenia associated with chronic total parenteral nutrition administration. ( 9352150 )
1997
16
Sea blue histiocytosis: a common abnormality of the bone marrow in myelodysplastic syndromes. ( 8254090 )
1993
17
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. ( 1585241 )
1992
18
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. ( 2120445 )
1990
19
Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. ( 2542678 )
1989
20
Sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. ( 3000286 )
1985
21
Case report: approach to the diagnosis of sea-blue histiocytosis in a community setting. ( 3855466 )
1985
22
Specificity of nerve changes in sea-blue histiocytosis. ( 3000287 )
1985
23
A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration. ( 6089645 )
1984
24
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. ( 6478639 )
1984
25
Chronic granulomatous disease of childhood and sea-blue histiocytosis. A pathologic study of an autopsy case. ( 6524383 )
1984
26
Sea blue histiocytosis associated with hyperlipoproteinemia type IIb. ( 6679679 )
1983
27
Familial sea-blue histiocytosis with cutaneous involvement. A case report with ultrastructural findings. ( 6299321 )
1983
28
Sea-blue histiocytosis: a new cause of malabsorption syndrome? ( 7362405 )
1980
29
Sea-blue histiocytosis. ( 6893662 )
1980
30
Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease. ( 315965 )
1979
31
Sea blue histiocytosis. A clinical cytologic and nosographic study on 23 cases. ( 628190 )
1978
32
Children sea-blue histiocytosis (2 cases) compared with phospholipidosis induced by 4-4' DET (4-4' p (diethylamino-2-ethoxy phenyl) 3-4 hexane) in rat. ( 193589 )
1977
33
Benign variant of familial sea-blue histiocytosis. ( 19403 )
1977
34
Sea-blue histiocytosis. ( 408245 )
1977
35
Sea-blue histiocytosis associated with hyperlipidaemia. ( 977773 )
1976
36
Pathogenesis of one variant of sea-blue histiocytosis. ( 1081167 )
1975
37
Sea-blue histiocytosis and beta-thalassemia in the same family. ( 1137725 )
1975
38
Sea-blue histiocytosis in hyperlipoproteinemia (cytomorphological, clinical and pathogenetic aspects). ( 4137920 )
1974
39
Chronic granulocytic leukemia. Prolonged survival, muscle infiltration and sea-blue histiocytosis. ( 4123736 )
1973
40
Letter: Sea-blue histiocytosis. ( 4800244 )
1973
41
Sea-blue histiocytosis. A further case report. ( 5079692 )
1972
42
Sea-blue histiocyte disease in siblings. ( 4193362 )
1970

Variations for Sea-Blue Histiocyte Disease

ClinVar genetic disease variations for Sea-Blue Histiocyte Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOE NM_000041.3(APOE): c.500_502delTCC (p.Leu167del) deletion Pathogenic rs515726148 GRCh37 Chromosome 19, 45412053: 45412055
2 APOE NM_000041.3(APOE): c.500_502delTCC (p.Leu167del) deletion Pathogenic rs515726148 GRCh38 Chromosome 19, 44908796: 44908798

Expression for Sea-Blue Histiocyte Disease

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

Pathways for Sea-Blue Histiocyte Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ACP5 APOB APOE LCAT LDLR PCSK9
2
Show member pathways
12.17 ACP5 APOB APOE LDLR
3
Show member pathways
11.89 APOB APOE LCAT LDLR PCSK9
4
Show member pathways
11.88 APOB APOE LDLR
5
Show member pathways
11.83 APOB APOE LDLR
6
Show member pathways
11.09 APOB APOE LCAT LDLR PCSK9
7 10.91 APOE LDLR
8
Show member pathways
9.93 LDLR PCSK9

GO Terms for Sea-Blue Histiocyte Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.99 APOB APOE CD55 LCAT PCSK9 SMPD1
2 extracellular space GO:0005615 9.93 APOB APOE LCAT PCSK9 SMPD1
3 endoplasmic reticulum lumen GO:0005788 9.7 APOB APOE PCSK9
4 lysosome GO:0005764 9.67 ACP5 LDLR PCSK9 SMPD1
5 early endosome GO:0005769 9.56 APOB APOE LDLR PCSK9
6 high-density lipoprotein particle GO:0034364 9.49 APOE LCAT
7 very-low-density lipoprotein particle GO:0034361 9.48 APOB APOE
8 endocytic vesicle lumen GO:0071682 9.46 APOB APOE
9 chylomicron GO:0042627 9.43 APOB APOE
10 endolysosome membrane GO:0036020 9.4 LDLR PCSK9
11 intermediate-density lipoprotein particle GO:0034363 9.32 APOB APOE
12 PCSK9-LDLR complex GO:1990666 9.16 LDLR PCSK9
13 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
14 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 APOB APOE LCAT LDLR PCSK9
2 post-translational protein modification GO:0043687 9.84 APOB APOE PCSK9
3 cellular protein metabolic process GO:0044267 9.82 APOB APOE PCSK9
4 receptor-mediated endocytosis GO:0006898 9.81 APOB APOE LDLR
5 lipid transport GO:0006869 9.77 APOB APOE LDLR
6 steroid metabolic process GO:0008202 9.72 APOB APOE LCAT LDLR PCSK9
7 retinoid metabolic process GO:0001523 9.66 APOB APOE
8 negative regulation of MAP kinase activity GO:0043407 9.65 APOE SMPD1
9 triglyceride metabolic process GO:0006641 9.65 APOE PCSK9
10 long-term memory GO:0007616 9.65 APOE LDLR
11 triglyceride catabolic process GO:0019433 9.63 APOB APOE
12 cholesterol transport GO:0030301 9.63 APOB LCAT LDLR
13 cholesterol efflux GO:0033344 9.62 APOB APOE
14 artery morphogenesis GO:0048844 9.62 APOB APOE
15 reverse cholesterol transport GO:0043691 9.61 APOE LCAT
16 high-density lipoprotein particle remodeling GO:0034375 9.61 APOE LCAT
17 low-density lipoprotein particle clearance GO:0034383 9.61 APOB LDLR PCSK9
18 low-density lipoprotein particle remodeling GO:0034374 9.59 APOB APOE
19 regulation of cholesterol metabolic process GO:0090181 9.58 APOE LDLR
20 regulation of protein metabolic process GO:0051246 9.58 APOE LDLR
21 chylomicron remnant clearance GO:0034382 9.58 APOB APOE LDLR
22 chylomicron assembly GO:0034378 9.57 APOB APOE
23 high-density lipoprotein particle clearance GO:0034384 9.56 APOE LDLR
24 very-low-density lipoprotein particle remodeling GO:0034372 9.55 APOE LCAT
25 chylomicron remodeling GO:0034371 9.54 APOB APOE
26 lipoprotein biosynthetic process GO:0042158 9.54 APOB APOE LCAT
27 very-low-density lipoprotein particle clearance GO:0034447 9.52 APOB APOE
28 positive regulation of low-density lipoprotein particle receptor catabolic process GO:0032805 9.49 APOE PCSK9
29 response to caloric restriction GO:0061771 9.48 APOE LDLR
30 lipoprotein metabolic process GO:0042157 9.46 APOB APOE LDLR PCSK9
31 lipoprotein catabolic process GO:0042159 9.43 APOB APOE LDLR
32 cholesterol homeostasis GO:0042632 9.35 APOB APOE LCAT LDLR PCSK9
33 positive regulation of endocytosis GO:0045807 9.33 APOE
34 cholesterol metabolic process GO:0008203 9.02 APOB APOE LCAT LDLR PCSK9

Molecular functions related to Sea-Blue Histiocyte Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.4 APOE LDLR
2 lipid binding GO:0008289 9.37 APOE CD55
3 lipid transporter activity GO:0005319 9.32 APOB APOE
4 cholesterol transporter activity GO:0017127 9.26 APOB APOE
5 low-density lipoprotein particle binding GO:0030169 9.16 LDLR PCSK9
6 very-low-density lipoprotein particle receptor binding GO:0070326 8.96 APOE PCSK9
7 low-density lipoprotein particle receptor binding GO:0050750 8.8 APOB APOE PCSK9

Sources for Sea-Blue Histiocyte Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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