Hemophagocytic Lymphohistiocytosis, Familial, 1 (FHL1)

Alias:
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytic Syndrome
Familial Erythrophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphohistiocytosis 1
Primary Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphocytosis
Familial Hlh
Hplh1
Fhl1
Hlh1
Fhl
Fel
Familial Hemophagocytic Lymphohistiocytosis Type 1
Erythrophagocytic Lymphohistiocytosis, Familial
Hemophagocytic Lymphohistiocytosis, Familial
Primary Hemophagocytic Hymphohistiocytosis
Genetic Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Histiocytosis
Hemophagocytic Reticulosis, Familial
Familial Hemophagocytic Reticulosis
Hemophagocytic Lymphohistiocytosis
Reticulosis, Familial Histiocytic
Fhlh
Hplh
Hlh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemophagocytic Lymphohistiocytosis, Familial, 1, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis, familial, 4 and lymphoproliferative syndrome 1, and has symptoms including ataxia, hemiplegia and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 1 is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Deregulation of Rab and Rab effector genes in bladder cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and t cells, and related phenotypes are fever and anemia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/100000
24
167
233

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

Title
PMID
Journal
Year
IF
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