Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2)

Alias:
Familial Hemophagocytic Lymphohistiocytosis 2
Hplh2
Fhl2
Hlh2
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility to
Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as familial hemophagocytic lymphohistiocytosis 2, is related to immunodeficiency 51 and immunodeficiency 55, and has symptoms including ataxia, hemiplegia and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 2 is PRF1 (Perforin 1). Affiliated tissues include bone marrow and t cells, and related phenotypes are ataxia and hepatomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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18
105
97

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
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IF
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