MCID: SBL008
MIFTS: 36

Sea-Blue Histiocyte Disease malady

Categories: Genetic diseases, Rare diseases, Bone 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 49 11 45 67
Sea-Blue Histiocyte Syndrome 10 12 36 24 65
Sea-Blue Histiocytosis 45 51 67
 
Histiocytosis, Sea-Blue 45
Sbhd 67

Characteristics:

Orphanet epidemiological data:

51
sea-blue histiocytosis:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

61
sea-blue histiocyte disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 269600
Disease Ontology10 DOID:4423
MeSH36 D012618
NCIt42 C85062
SNOMED-CT59 37821003
Orphanet51 158029
ICD10 via Orphanet28 D76.3
UMLS via Orphanet66 C0036489
MedGen34 C0036489
UMLS65 C0036489

Summaries for Sea-Blue Histiocyte Disease

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Sea-Blue Histiocyte Disease, also known as sea-blue histiocyte syndrome, is related to histiocytosis and deficiency of n-glycanase 1, and has symptoms including mediastinal lymphadenopathy, hepatomegaly and subcutaneous hemorrhage. An important gene associated with Sea-Blue Histiocyte Disease is APOE (Apolipoprotein E), and among its related pathways are Statin Pathway and NAD metabolism. Affiliated tissues include bone, liver and bone marrow.

Description from OMIM:49 269600

Related Diseases for Sea-Blue Histiocyte Disease

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

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis10.8
2deficiency of n-glycanase 110.3APOE, LCAT
3pick disease10.3
4niemann-pick disease10.3
5sick sinus syndrome10.3APOE, LCAT
6scurvy10.3APOE, LCAT
7scleral disease10.2APOE, LCAT
8wolfram syndrome 210.2APOE, LCAT
9split hand foot malformation10.1APOE, LCAT
10immunodeficiency 32a, mycobacteriosis, autosomal dominant10.1APOE, LCAT
11obesity, hyperphagia, and developmental delay10.1APOE, LCAT
12porencephaly10.1ALPP, APOE
13teratocarcinoma10.1ALPP, ALPPL2
14lissencephaly 6, with microcephaly10.1APOE, LCAT
15hepatitis10.1
16porphyria10.1
17melanoacanthoma10.0APOE, LCAT
18autoimmune disease of musculoskeletal system10.0ALPP, ALPPL2
19dermal unilateral segmental cavernous angioma9.9APOE, LCAT
20hypophosphatasia, infantile9.9ALPL, ALPP
21pericholangitis9.9ALPL, ALPP
22macrocytic anemia9.9ALPL, ALPP
23pseudomyxoma peritonei9.8ALPL, ALPP
24skeletal muscle cancer9.8ALPL, ALPP
25testicular germ cell cancer9.8ALPL, ALPP
26geotrichosis9.8ALPL, ALPP
27hemometra9.8ALPL, ALPP
28diabetic angiopathy9.8ALPL, ALPP
29inflammatory leiomyosarcoma9.8ALPL, ALPP
30papillary adenoma9.8ALPL, ALPP
31t cell deficiency9.8ALPL, ALPP
32congenital nervous system abnormality9.8ALPL, ALPP
33iron deficiency anemia9.8ALPL, ALPP
34paranasal sinus sarcoma9.8ALPL, ALPP
35metabolic syndrome x9.8ALPL, ALPP
36scrotum paget's disease9.8ALPL, ALPP
37marcus gunn phenomenon9.8ALPL, ALPP
38primary hyperparathyroidism9.8ALPL, ALPP
39acrodermatitis9.8ALPL, ALPP
40bone structure disease9.7ALPL, ALPP
41leukodystrophy9.7ALPL, ALPP
42leprechaunism9.7ALPP, ALPPL2
43calcium metabolism disease9.7ALPL, ALPP
44placental site trophoblastic tumor9.6ALPP, ALPPL2
45pulmonary neuroendocrine tumor9.5ALPL, ALPP
46anaerobic meningitis9.4ALPL, ALPP, ALPPL2
47breast adenocarcinoma9.4ALPL, ALPP, ALPPL2
48cervical adenitis9.4ALPL, ALPP, ALPPL2
49internal auditory canal meningioma9.4ALPL, ALPP, ALPPL2
50malignant histiocytosis9.4ALPL, ALPP, ALPPL2

Graphical network of the top 20 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:

269600

Clinical features from OMIM:

269600

Symptoms:

 51 (show all 12)
  • blepharitis/eyelid inflammation
  • cutaneous edema
  • purpura/petichiae
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • mediastinal/hilar adenopathies
  • thrombocytopenia/thrombopenia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • lung/pulmonary infiltrates
  • retinopathy
  • irregular/in bands/reticular skin hyperpigmentation

HPO human phenotypes related to Sea-Blue Histiocyte Disease:

(show all 17)
id Description Frequency HPO Source Accession
1 mediastinal lymphadenopathy hallmark (90%) HP:0100721
2 hepatomegaly hallmark (90%) HP:0002240
3 subcutaneous hemorrhage hallmark (90%) HP:0001933
4 abnormality of coagulation hallmark (90%) HP:0001928
5 thrombocytopenia hallmark (90%) HP:0001873
6 splenomegaly hallmark (90%) HP:0001744
7 edema hallmark (90%) HP:0000969
8 blepharitis hallmark (90%) HP:0000498
9 pulmonary infiltrates typical (50%) HP:0002113
10 irregular hyperpigmentation occasional (7.5%) HP:0007400
11 retinopathy occasional (7.5%) HP:0000488
12 absent axillary hair HP:0002221
13 sea-blue histiocytosis HP:0001982
14 thrombocytopenia HP:0001873
15 splenomegaly HP:0001744
16 cirrhosis HP:0001394
17 abnormality of the eye HP:0000478

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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Anatomical Context for Sea-Blue Histiocyte Disease

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

33
Bone, Liver, Bone marrow, Skin, Ovary, Lung, Eye

Animal Models for Sea-Blue Histiocyte Disease or affiliated genes

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Publications for Sea-Blue Histiocyte Disease

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Articles related to Sea-Blue Histiocyte Disease:

idTitleAuthorsYear
1
Sea-blue histiocyte disease in siblings. (4193362)
1970

Variations for Sea-Blue Histiocyte Disease

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Clinvar genetic disease variations for Sea-Blue Histiocyte Disease:

5
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, 499CTCdeletionPathogenic

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5APOE, LCAT
2
Show member pathways
8.5ALPL, ALPP, ALPPL2
38.5ALPL, ALPP, ALPPL2
4
Show member pathways
7.1ALPL, ALPP, ALPPL2, APOE, GBE1, LCAT

GO Terms for genes affiliated with Sea-Blue Histiocyte Disease

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

idNameGO IDScoreTop Affiliating Genes
1reverse cholesterol transportGO:00436919.9APOE, LCAT
2lipid metabolic processGO:00066299.5APOE, LCAT
3response to glucocorticoidGO:00513849.2ALPL, LCAT

Sources for Sea-Blue Histiocyte Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet