MCID: SBL008
MIFTS: 36

Sea-Blue Histiocyte Disease malady

Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Immune diseases categories

Aliases & Classifications for Sea-Blue Histiocyte Disease

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 12DISEASES, 24GTR, 65UMLS, 36MeSH, 51Orphanet, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Sea-Blue Histiocyte Disease:

Name: Sea-Blue Histiocyte Disease 49 11 45 67
Sea-Blue Histiocyte Syndrome 10 12 24 65 36
Sea-Blue Histiocytosis 45 51 67
 
Histiocytosis, Sea-Blue 45
Sbhd 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 269600
Disease Ontology10 DOID:4423
NCIt42 C85062
MeSH36 D012618
SNOMED-CT59 37821003
Orphanet51 158029
ICD10 via Orphanet28 D76.3
UMLS via Orphanet66 C0036489
MedGen34 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 pick disease, and has symptoms including blepharitis, edema and splenomegaly. 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, bone marrow and skin.

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 116)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis11.1
2pick disease10.6
3niemann-pick disease10.6
4niemann-pick disease, type b10.5
5thalassemia10.4
6hepatitis10.3
7porphyria10.3
8gm1-gangliosidosis, type ii10.3
9myelodysplastic syndrome10.3
10niemann-pick disease, type a10.3
11niemann-pick disease, type c210.3
12niemann-pick disease, type c110.3
13chronic granulomatous disease10.3
14leukemia10.3
15neutropenia10.3
16thrombocytopenia10.3
17cholesterol ester storage disease10.3
18purpura10.3
19light chain deposition disease10.3
20splenomegaly10.3
21deficiency of n-glycanase 110.1APOE, LCAT
22meckel syndrome 1010.1APOE, LCAT
23esophagus carcinoma in situ10.1APOE, LCAT
24hypobetalipoproteinemia10.1APOE, LCAT
25scurvy10.1APOE, LCAT
26abetalipoproteinemia10.1APOE, LCAT
27hypoalphalipoproteinemia10.1APOE, LCAT
28immunodeficiency 32a, mycobacteriosis, autosomal dominant10.1APOE, LCAT
29hyperlipidemia, familial combined10.1APOE, LCAT
30tangier disease10.1APOE, LCAT
31gallbladder sarcoma10.1ALPP, APOE
32nasal cavity inverting papilloma10.0ALPP, ALPPL2
33embryonal rhabdomyosarcoma9.9ALPP, ALPPL2
34hypophosphatasia, infantile9.9ALPL, ALPP
35corpus luteum cyst9.9ALPL, ALPP
36dysentery9.9ALPL, ALPP
37gender identity disorder9.9ALPL, ALPP
38prostate leiomyoma9.9ALPL, ALPP
39lipid storage disease9.9APOE, LCAT
40senile cataract9.9ALPP, ALPPL2
41acinic cell breast carcinoma9.9ALPL, ALPP
42cerebellar astrocytoma9.9ALPL, ALPP
43axial osteomalacia9.9ALPL, ALPP
44malignant peritoneal solitary fibrous tumor9.9ALPL, ALPP
45impetigo9.9ALPL, ALPP
46primary syphilis9.9ALPL, ALPP
47patent foramen ovale9.9ALPL, ALPP
48klippel-feil syndrome9.9ALPL, ALPP
49gestational choriocarcinoma9.9ALPP, ALPPL2
50marcus gunn phenomenon9.9ALPL, ALPP

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 18)
id Description Frequency HPO Source Accession
1 blepharitis hallmark (90%) HP:0000498
2 edema hallmark (90%) HP:0000969
3 splenomegaly hallmark (90%) HP:0001744
4 thrombocytopenia hallmark (90%) HP:0001873
5 abnormality of coagulation hallmark (90%) HP:0001928
6 subcutaneous hemorrhage hallmark (90%) HP:0001933
7 hepatomegaly hallmark (90%) HP:0002240
8 mediastinal lymphadenopathy hallmark (90%) HP:0100721
9 pulmonary infiltrates typical (50%) HP:0002113
10 retinopathy occasional (7.5%) HP:0000488
11 irregular hyperpigmentation occasional (7.5%) HP:0007400
12 autosomal recessive inheritance HP:0000007
13 abnormality of the eye HP:0000478
14 cirrhosis HP:0001394
15 splenomegaly HP:0001744
16 thrombocytopenia HP:0001873
17 sea-blue histiocytosis HP:0001982
18 absent axillary hair HP:0002221

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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Genetic tests related to Sea-Blue Histiocyte Disease:

id Genetic test Affiliating Genes
1 Sea-Blue Histiocyte Syndrome24

Anatomical Context for Sea-Blue Histiocyte Disease

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

33
Bone, Bone marrow, Skin, Lung, Liver, 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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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
1APOEAPOE, 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 pathways (with members indented)ScoreTop 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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Cellular components related to Sea-Blue Histiocyte Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:00343649.9APOE, LCAT
2anchored component of membraneGO:00312258.5ALPL, ALPP, ALPPL2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:004215810.2APOE, LCAT
2very-low-density lipoprotein particle remodelingGO:003437210.1APOE, LCAT
3high-density lipoprotein particle remodelingGO:003437510.0APOE, LCAT
4reverse cholesterol transportGO:004369110.0APOE, LCAT
5lipoprotein metabolic processGO:004215710.0APOE, LCAT
6cholesterol homeostasisGO:00426329.9APOE, LCAT
7cholesterol transportGO:00303019.9APOE, LCAT
8cholesterol metabolic processGO:00082039.9APOE, LCAT
9response to glucocorticoidGO:00513849.5ALPL, LCAT
10dephosphorylationGO:00163118.5ALPL, ALPP, ALPPL2
11protein dephosphorylationGO:00064708.2ALPL, ALPP, ALPPL2

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

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00040358.8ALPL, ALPP, ALPPL2
2phosphatase activityGO:00167918.5ALPL, ALPP, ALPPL2
3catalytic activityGO:00038248.3ALPL, ALPP, ALPPL2, GBE1

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