MCID: SBL008
MIFTS: 25

Sea-Blue Histiocyte Disease malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Sea-Blue Histiocyte Disease

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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). Affiliated tissues include eye, bone and liver.

Description from OMIM:45 269600

Aliases & Classifications for Sea-Blue Histiocyte Disease

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 9Disease Ontology, 11DISEASES, 22GTR, 60UMLS, 47Orphanet, 33MeSH, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Sea-Blue Histiocyte Disease, Aliases & Descriptions:

Name: Sea-Blue Histiocyte Disease 45 10 41
Sea-Blue Histiocyte Syndrome 9 11 22 60
 
Sea-Blue Histiocytosis 41 47
Histiocytosis, Sea-Blue 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
sea-blue histiocytosis:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult


External Ids:

OMIM45 269600
Disease Ontology9 DOID:4423
MeSH33 D012618
NCIt38 C85062
SNOMED-CT55 37821003
Orphanet47 158029
ICD10 via Orphanet26 D76.3
UMLS via Orphanet61 C0036489

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 all 20)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis11.1
2pick disease10.6
3niemann-pick disease10.6
4niemann-pick disease, type b10.5
5thalassemia10.4
6hepatitis10.4
7porphyria10.4
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

Graphical network of 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:

 47 (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 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 absent axillary hair HP:0002221

Drugs & Therapeutics for Sea-Blue Histiocyte Disease

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Drug clinical trials:

Search ClinicalTrials for Sea-Blue Histiocyte Disease

Search NIH Clinical Center for Sea-Blue Histiocyte Disease

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 Syndrome22

Anatomical Context for Sea-Blue Histiocyte Disease

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

31
Eye, Bone, Liver, Lung, Skin

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:

6
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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Compounds for genes affiliated with Sea-Blue Histiocyte Disease

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GO Terms for genes affiliated with Sea-Blue Histiocyte Disease

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Products for genes affiliated with Sea-Blue Histiocyte Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sea-Blue Histiocyte Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet