SBHD
MCID: SBL008
MIFTS: 42

Sea-Blue Histiocyte Disease (SBHD)

Categories: Genetic 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 57 20 72 36 13
Sea-Blue Histiocytosis 57 12 73 20 58 72 15
Sea-Blue Histiocyte Syndrome 12 29 6 44 39 70
Histiocytosis, Sea-Blue 57 20
Inherited Lipemic Splenomegaly 20
Sbhd 72

Characteristics:

Orphanet epidemiological data:

58
sea-blue histiocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
? same as the adult, chronic or b form of niemann-pick disease


HPO:

31
sea-blue histiocyte disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4423
OMIM® 57 269600
KEGG 36 H01168
MeSH 44 D012618
NCIt 50 C85062
SNOMED-CT 67 37821003
ICD10 via Orphanet 33 D76.3
UMLS via Orphanet 71 C0036489
Orphanet 58 ORPHA158029
MedGen 41 C0036489
UMLS 70 C0036489

Summaries for Sea-Blue Histiocyte Disease

GARD : 20 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 lecithin:cholesterol acyltransferase deficiency and lysosomal acid lipase deficiency. 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 spleen, bone marrow and myeloid, and related phenotypes are splenomegaly and hepatomegaly

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

KEGG : 36 Sea-blue histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes are observed in many organs including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; most cases are secondary to lipid metabolic diseases. A mutation in the APOE gene has been reported.

UniProtKB/Swiss-Prot : 72 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 : 73 Sea-blue histiocytosis is a cutaneous condition that may occur as a familial inherited syndrome or as an... more...

More information 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 91)
# Related Disease Score Top Affiliating Genes
1 lecithin:cholesterol acyltransferase deficiency 30.0 LCAT APOE
2 lysosomal acid lipase deficiency 29.9 STAP1 PNPLA5 LIPA
3 hyperlipidemia, familial combined, 3 29.7 LCAT APOE
4 arcus corneae 29.6 LDLRAP1 LCAT ABCG8
5 hypercholesterolemia, familial, 1 29.2 STAP1 LDLRAP1 LCAT APOE ABCG8
6 cholesterol ester storage disease 29.1 STAP1 PNPLA5 LIPA LDLRAP1 LCAT
7 histiocytosis 10.9
8 pick disease of brain 10.5
9 niemann-pick disease 10.5
10 niemann-pick disease, type b 10.4
11 splenomegaly 10.4
12 purpura 10.3
13 myeloid leukemia 10.3
14 triiodothyronine receptor auxiliary protein 10.2
15 leukemia, acute myeloid 10.2
16 beta-thalassemia 10.2
17 myelodysplastic syndrome 10.2
18 leukemia 10.2
19 pancytopenia 10.2
20 thrombocytopenia 10.2
21 chronic granulomatous disease 10.2
22 uremia 10.2
23 thalassemia 10.2
24 pfeiffer syndrome 10.1
25 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1
26 ocular albinism 10.1
27 hypogonadotropic hypogonadism 10.1
28 porphyria 10.1
29 sphingolipidosis 10.1
30 dysostosis 10.1
31 elephantiasis 10.1
32 liver cirrhosis 10.1
33 lipid storage disease 10.1
34 albinism 10.1
35 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1
36 lysosomal storage disease with skeletal involvement 10.1
37 xanthomatosis 10.0 LDLRAP1 APOE
38 familial lcat deficiency 10.0 LCAT APOE
39 hypertriglyceridemia, familial 10.0
40 thrombocytopenic purpura, autoimmune 10.0
41 lymphoma, hodgkin, classic 10.0
42 osteogenic sarcoma 10.0
43 kearns-sayre syndrome 10.0
44 budd-chiari syndrome 10.0
45 branchiootic syndrome 1 10.0
46 lymphoma, non-hodgkin, familial 10.0
47 abdominal obesity-metabolic syndrome 1 10.0
48 aplastic anemia 10.0
49 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
50 alacrima, achalasia, and mental retardation syndrome 10.0

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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
4 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
5 blepharitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000498
6 petechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000967
7 mediastinal lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100721
8 edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000969
9 sea-blue histiocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001982
10 pulmonary infiltrates 58 31 frequent (33%) Frequent (79-30%) HP:0002113
11 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
12 hypopigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001010
13 hyperpigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000953
14 cirrhosis 31 HP:0001394
15 abnormality of the eye 31 HP:0000478
16 abnormal bleeding 58 Very frequent (99-80%)
17 absent axillary hair 31 HP:0002221

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.32 ABCG8

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 29 APOE

Anatomical Context for Sea-Blue Histiocyte Disease

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

40
Spleen, Bone Marrow, Myeloid, Bone, Eye, Liver, Lymph Node

Publications for Sea-Blue Histiocyte Disease

Articles related to Sea-Blue Histiocyte Disease:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. 61 6 57
11095479 2000
2
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation. 57 6
16094309 2005
3
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. 61 57
2120445 1990
4
Familial sea-blue histiocytosis with cutaneous involvement. A case report with ultrastructural findings. 61 57
6299321 1983
5
Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma. 61 20
27408409 2016
6
Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease. 57
100330 1978
7
Sea-blue histiocyte syndrome in Thai siblings. 57
410219 1977
8
Sea-blue histiocyte and posterior column dysfunction: a familial disorder. 57
1237827 1975
9
Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant. 57
4123476 1973
10
The syndrome of the sea-blue histiocyte. 57
4114369 1972
11
The sea-blue histiocyte syndrome, a review: genetic and biochemical studies. 57
4114368 1972
12
Sea-blue histiocytes in familial lecithin: cholesterol acyltransferase deficiency. 57
4114809 1972
13
Syndrome of the sea-blue histiocyte. 57
4098670 1970
14
Sea-blue-histiocyte syndrome. 57
4195998 1970
15
Syndrome of the sea-blue histiocyte. 57
4194379 1970
16
The syndrome of the sea-blue histiocyte. 57
4242937 1970
17
CHRONIC RETICULOENDOTHELIAL CELL STORAGE DISEASE. 57
14320759 1965
18
Sea-blue histiocytosis in a patient with acute myeloid leukemia with myelodysplasia-related changes harboring isolated trisomy 9: pathognomonic or a coincidence? 61
33796391 2021
19
Images from the Haematologica Atlas of Hematologic Cytology: sea-blue histiocytosis. 61
33386710 2021
20
Sea Blue Histiocytosis Concordant With Immune Thrombocytopenic Purpura. 61
33062516 2020
21
Sea-Blue Histiocytosis of Bone Marrow in a Patient with t(8;22) Acute Myeloid Leukemia. 61
32884529 2020
22
A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy. 61
32317543 2020
23
A rare case of association between Budd-Chiari syndrome and sea-blue histiocytosis. 61
31719286 2019
24
Spectrum of histopathologic diagnosis of lymph node biopsies after liver and kidney transplant. 61
25894150 2015
25
Sea-blue histiocytosis in bone marrow of a patient with chronic thrombocytopenia. 61
25413372 2015
26
APOE p.Leu167del-Related Lipid Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
24921113 2014
27
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. 61
22949395 2013
28
Pulmonary involvement in sea-blue histiocytosis. 61
22779941 2012
29
Double-balloon endoscopy reveals sea-blue histiocytosis affecting the small bowel (with video). 61
20630517 2010
30
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. 61
19592052 2009
31
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. 61
19864213 2009
32
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. 61
30256875 2009
33
[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. 61
19411774 2009
34
Secondary sea-blue histiocytosis derived from Niemann-Pick disease. 61
17510534 2007
35
Acquired sea-blue histiocytosis in beta thalassemia major. 61
16761752 2005
36
Idiopathic thrombocytopenic purpura associated with bone marrow sea-blue histiocytosis. 61
15558791 2004
37
Severe autoimmune neutropenia associated with bone marrow sea-blue histiocytosis. 61
12199768 2002
38
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. 61
11732877 2001
39
Spleen localization of light chain deposition disease associated with sea blue histiocytosis, revealed by spontaneous rupture. 61
10389632 1999
40
Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition. 61
9613982 1998
41
Sea-blue histiocytosis and pancytopaenia associated with chronic total parenteral nutrition administration. 61
9352150 1997
42
Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition including fat-emulsion sources: a clinicopathologic study of seven cases. 61
8904878 1996
43
Syndrome of the sea-blue histiocyte. 61
8797061 1996
44
Pulmonary fibrosis and sea-blue histiocyte infiltration in a patient with primary myelofibrosis. 61
8575594 1995
45
[Sea-blue histiocytosis]. 61
8581626 1995
46
Sea blue histiocytosis: a common abnormality of the bone marrow in myelodysplastic syndromes. 61
8254090 1993
47
[Value of bronchoalveolar lavage in the diagnosis of pulmonary involvement in storage diseases]. 61
8191123 1993
48
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. 61
1585241 1992
49
Hyperlipidemias, lipid storage disorders, metal storage disorders, and ochronosis. 61
2043443 1991
50
Unexpected splenic nodules in leukemic patients. 61
2912876 1989

Variations for Sea-Blue Histiocyte Disease

ClinVar genetic disease variations for Sea-Blue Histiocyte Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APOE NM_000041.4(APOE):c.497_499TCC[1] (p.Leu167del) Microsatellite Pathogenic 126456 rs515726148 GRCh37: 19:45412049-45412051
GRCh38: 19:44908792-44908794

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:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.13 SLC66A1 PLBD2 LIPA
2 high-density lipoprotein particle GO:0034364 8.62 LCAT APOE

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.61 LDLRAP1 LCAT APOE
2 lipid catabolic process GO:0016042 9.58 PNPLA5 PLBD2 LIPA
3 lipid homeostasis GO:0055088 9.56 PNPLA5 APOE
4 intermembrane lipid transfer GO:0120009 9.55 APOE ABCG8
5 triglyceride homeostasis GO:0070328 9.54 APOE ABCG8
6 cholesterol efflux GO:0033344 9.52 APOE ABCG8
7 low-density lipoprotein particle clearance GO:0034383 9.51 LIPA LDLRAP1
8 cholesterol metabolic process GO:0008203 9.5 LDLRAP1 LCAT APOE
9 cholesterol transport GO:0030301 9.49 LDLRAP1 LCAT
10 reverse cholesterol transport GO:0043691 9.48 LCAT APOE
11 high-density lipoprotein particle remodeling GO:0034375 9.46 LCAT APOE
12 amyloid precursor protein metabolic process GO:0042982 9.37 LDLRAP1 APOE
13 very-low-density lipoprotein particle remodeling GO:0034372 9.26 LCAT APOE
14 cholesterol homeostasis GO:0042632 9.26 LDLRAP1 LCAT APOE ABCG8
15 lipoprotein biosynthetic process GO:0042158 9.16 LCAT APOE
16 lipid metabolic process GO:0006629 9.1 PNPLA5 PLBD2 LIPA LDLRAP1 LCAT APOE

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 9.37 LDLRAP1 APOE
2 phosphotyrosine residue binding GO:0001784 9.32 STAP1 LDLRAP1
3 triglyceride lipase activity GO:0004806 9.26 PNPLA5 LCAT
4 signaling adaptor activity GO:0035591 9.16 STAP1 LDLRAP1
5 low-density lipoprotein particle receptor binding GO:0050750 8.96 LDLRAP1 APOE
6 intermembrane cholesterol transfer activity GO:0120020 8.62 APOE ABCG8

Sources for Sea-Blue Histiocyte Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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