Severe Congenital Neutropenia 8 (SCN8)

Alias:
Autosomal Dominant Severe Congenital Neutropenia 8 with or Without Pancreatic Dysfunction and/or Neurological Abnormalities
Shwachman-Diamond Syndrome-Like
Scn8
Sdsl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Severe Congenital Neutropenia 8, also known as autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities, is related to neutropenia, severe congenital, 8, autosomal dominant and acute diarrhea. An important gene associated with Severe Congenital Neutropenia 8 is SRP54 (Signal Recognition Particle 54), and among its related pathways/superpathways are Neuroscience and Phosphodiesterases in neuronal function. Affiliated tissues include cardiac myocytes and bone marrow.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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11
96
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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No data available

Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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