MCID: SVR103
MIFTS: 20
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Severe Congenital Neutropenia 1
Categories:
Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Severe Congenital Neutropenia 1:Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Nephrological diseases Cardiovascular diseases Endocrine diseases External Ids:
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Disease Ontology :
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A severe congenital neutropenia that has material basis in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.
MalaCards based summary : Severe Congenital Neutropenia 1 is related to diphyllobothriasis and alzheimer disease mitochondrial. An important gene associated with Severe Congenital Neutropenia 1 is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include neutrophil. |
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MalaCards organs/tissues related to Severe Congenital Neutropenia 1:40
Neutrophil
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Articles related to Severe Congenital Neutropenia 1:
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Search
GEO
for disease gene expression data for Severe Congenital Neutropenia 1.
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Pathways related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:
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Cellular components related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:
Biological processes related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:
Molecular functions related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:
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