Neutropenia, Severe Congenital, 8, Autosomal Dominant (SCN8)

Alias:

Scn8

Neutropenia, Severe Congenital, 8, Autosomal Dominant, with or Without Pancreatic Dysfunction and/or Neurologic Abnormalities

Neutropenia, Severe Congenital, Type 8, Autosomal Dominant

Neutropenia, Severe Congenital 8, Autosomal Dominant

Shwachman-Diamond Syndrome-Like

Sdsl

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neutropenia, Severe Congenital, 8, Autosomal Dominant, also known as scn8, is related to severe congenital neutropenia 8 and acute diarrhea. An important gene associated with Neutropenia, Severe Congenital, 8, Autosomal Dominant is SRP54 (Signal Recognition Particle 54). Affiliated tissues include bone marrow and neutrophil, and related phenotypes are neutropenia and autistic behavior

Related ID：

MALACARDS：NTR054

OMIM：618752

MESH：D009503