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GTR Home > Conditions/Phenotypes > Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Synonyms
Severe congenital neutropenia 5, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: H1, H1VPS45, SCN5, VPS45A, VPS45B, VPS54A, VSP45, VSP45A, VPS45
    Summary: vacuolar protein sorting 45 homolog

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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