Specific Granule Deficiency 1 (SGD1)

Alias:
Specific Granule Deficiency
Sgd1
Lactoferrin-Deficient Neutrophils
Neutrophil Lactoferrin Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Specific Granule Deficiency 1, also known as specific granule deficiency, is related to recurrent infection due to specific granule deficiency and specific granule deficiency 2. An important gene associated with Specific Granule Deficiency 1 is CEBPE (CCAAT Enhancer Binding Protein Epsilon), and among its related pathways/superpathways is RNA Polymerase I Promoter Opening. Affiliated tissues include neutrophil and myeloid, and related phenotypes are recurrent bacterial infections and hyposegmentation of neutrophil nuclei
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
3
15
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
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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
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IF
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