Hyper-Igd Syndrome (HIDS)

Alias:
Hids
Hyperimmunoglobulinemia D with Periodic Fever
Hyperimmunoglobinemia D with Recurrent Fever
Hyperimmunoglobulinemia D and Periodic Fever Syndrome
Partial Mevalonate Kinase Deficiency
Hyperimmunoglobulinemia D Syndrome
Hyperimmunoglobulin D with Periodic Fever
Deficiency of Mevalonate Kinase
Periodic Fever, Dutch Type
Hyperimmunoglobulinemia D
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyper-Igd Syndrome, also known as hids, is related to mevalonic aciduria and periodic fever syndrome, and has symptoms including abdominal pain, arthralgia and diarrhea. An important gene associated with Hyper-Igd Syndrome is MVK (Mevalonate Kinase), and among its related pathways/superpathways is Interleukin-10 signaling. The drugs Colchicine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are hepatomegaly and abdominal pain

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
--
5
53
81

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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