MCID: SBL008
MIFTS: 41

Sea-Blue Histiocyte Disease

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

Aliases & Classifications for Sea-Blue Histiocyte Disease

MalaCards integrated aliases for Sea-Blue Histiocyte Disease:

Name: Sea-Blue Histiocyte Disease 57 53 75 37 13
Sea-Blue Histiocyte Syndrome 12 29 6 44 15 40 73
Sea-Blue Histiocytosis 57 76 53 59 75
Histiocytosis, Sea-Blue 57 53
Inherited Lipemic Splenomegaly 53
Sbhd 75

Characteristics:

Orphanet epidemiological data:

59
sea-blue histiocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive
? same as the adult, chronic or b form of niemann-pick disease


HPO:

32
sea-blue histiocyte disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sea-Blue Histiocyte Disease

NIH Rare Diseases : 53 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 histiocyte syndrome, is related to lecithin:cholesterol acyltransferase deficiency and histiocytosis. 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 bone, liver and heart, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 75 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.

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

Wikipedia : 76 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 via clinical synopsis from OMIM:

57
GI:
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

Human phenotypes related to Sea-Blue Histiocyte Disease:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
4 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
5 edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000969
6 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
7 blepharitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000498
8 petechiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000967
9 mediastinal lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100721
10 pulmonary infiltrates 59 32 frequent (33%) Frequent (79-30%) HP:0002113
11 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
12 hypopigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001010
13 sea-blue histiocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001982
14 abnormality of the eye 32 HP:0000478
15 abnormal bleeding 59 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:

46
# 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:

# 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:

41
Bone, Liver, Heart, Spleen, Bone Marrow, Skin, Eye

Publications for Sea-Blue Histiocyte Disease

Articles related to Sea-Blue Histiocyte Disease:

(show all 17)
# Title Authors Year
1
Successful pregnancy in a patient with familial sea-blue histiocyte syndrome. ( 11221166 )
2000
2
Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition. ( 9613982 )
1998
3
Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition including fat-emulsion sources: a clinicopathologic study of seven cases. ( 8904878 )
1996
4
Liver lesion on computed tomography and ultrasonography in adult Niemann Pick disease related to sea blue histiocyte syndrome--a case report. ( 8325590 )
1993
5
Sea-blue histiocyte syndrome with cutaneous involvement. Case report with ultrastructural findings. ( 3803674 )
1987
6
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. ( 4073013 )
1985
7
Sea-blue histiocyte syndrome. A secondary degenerative process of macrophages? ( 6892519 )
1980
8
Sea-blue histiocyte syndrome with bone anomalies. ( 757536 )
1978
9
Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease. ( 100330 )
1978
10
Sea-blue histiocyte syndrome in Thai siblings. ( 410219 )
1977
11
Sea blue histiocyte syndrome. ( 4133822 )
1974
12
The sea-blue histiocyte syndrome with hepatic porphyria and infectious mononucleosis. ( 4119308 )
1972
13
The sea-blue histiocyte syndrome, a review: genetic and biochemical studies. ( 4114368 )
1972
14
Sea-blue histiocyte syndrome in an octagenarian. ( 4105006 )
1971
15
Sea-blue-histiocyte syndrome. ( 4195998 )
1970
16
The sea-blue histiocyte syndrome. ( 4191343 )
1970
17
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 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
3 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

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 high-density lipoprotein particle GO:0034364 8.62 APOE LCAT

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

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

Sources for Sea-Blue Histiocyte Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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