MCID: ATS483
MIFTS: 33
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Autosomal Dominant Severe Congenital Neutropenia
Categories:
Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Autosomal Dominant Severe Congenital Neutropenia:
Characteristics:Inheritance:
Autosomal dominant 58
Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Infectious diseases Cancer diseases Anatomical: Blood diseases Immune diseases Neuronal diseases Respiratory diseases Bone diseases Endocrine diseases
ICD10:
32
Orphanet: 58
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GARD: 19 A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. MalaCards based summary: Autosomal Dominant Severe Congenital Neutropenia, also known as neutropenia, congenital, severe, autosomal dominant, is related to severe congenital neutropenia 8 and severe congenital neutropenia 2. An important gene associated with Autosomal Dominant Severe Congenital Neutropenia is GFI1 (Growth Factor Independent 1 Transcriptional Repressor), and among its related pathways/superpathways is Interaction between L1 and Ankyrins. Affiliated tissues include neutrophil, myeloid and skin, and related phenotypes are neutropenia and recurrent bacterial infections Orphanet: 58 A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. Disease Ontology: 11 A severe congenital neutropenia that has material basis in heterozygous mutation of an autosomal gene. |
Human phenotypes related to Autosomal Dominant Severe Congenital Neutropenia:58 30 (show all 31)
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Organs/tissues related to Autosomal Dominant Severe Congenital Neutropenia:
MalaCards :
Neutrophil,
Myeloid,
Skin
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Articles related to Autosomal Dominant Severe Congenital Neutropenia:
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Search
GEO
for disease gene expression data for Autosomal Dominant Severe Congenital Neutropenia.
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Biological processes related to Autosomal Dominant Severe Congenital Neutropenia according to GeneCards Suite gene sharing:
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