Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Name: |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
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Description: |
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).
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ORPHAcode: |
369852
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Synonyms: |
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
VPS45 deficiency
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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