Sea-Blue Histiocyte Disease (SBHD)

Alias:
Sea-Blue Histiocytosis
Sea-Blue Histiocyte Syndrome
Histiocytosis, Sea-Blue
Sbhd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sea-Blue Histiocyte Disease, also known as sea-blue histiocytosis, is related to splenomegaly and niemann-pick disease, type b. An important gene associated with Sea-Blue Histiocyte Disease is APOE (Apolipoprotein E), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Plasma lipoprotein assembly, remodeling, and clearance. Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and hepatomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Adolescent
<1/1000000
9
85
16

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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