MCID: SVR012
MIFTS: 28
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Severe Congenital Neutropenia Autosomal Dominant
Categories:
Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Severe Congenital Neutropenia Autosomal Dominant:
Name: Severe Congenital Neutropenia Autosomal Dominant
52
Characteristics:Orphanet epidemiological data:58
autosomal dominant severe congenital neutropenia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases Anatomical: Blood diseases Neuronal diseases Bone diseases Immune diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Severe Congenital Neutropenia Autosomal Dominant, also known as autosomal dominant severe congenital neutropenia, is related to severe congenital neutropenia and neutropenia. An important gene associated with Severe Congenital Neutropenia Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Affiliated tissues include skin, myeloid and neutrophil, and related phenotypes are neutropenia and recurrent bacterial infections
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Human phenotypes related to Severe Congenital Neutropenia Autosomal Dominant:58 31 (show all 31)
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MalaCards organs/tissues related to Severe Congenital Neutropenia Autosomal Dominant:40
Skin,
Myeloid,
Neutrophil,
T Cells
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Articles related to Severe Congenital Neutropenia Autosomal Dominant:
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Search
GEO
for disease gene expression data for Severe Congenital Neutropenia Autosomal Dominant.
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Cellular components related to Severe Congenital Neutropenia Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Severe Congenital Neutropenia Autosomal Dominant according to GeneCards Suite gene sharing:
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