SCN7
MCID: NTR044
MIFTS: 25
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Neutropenia, Severe Congenital, 7, Autosomal Recessive (SCN7)
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 Neutropenia, Severe Congenital, 7, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
autosomal recessive severe congenital neutropenia due to csf3r deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or early childhood some patients may show a response to gm-csf treatment HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Blood diseases Immune diseases Neuronal diseases Bone diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (617014)
MalaCards based summary : Neutropenia, Severe Congenital, 7, Autosomal Recessive, is also known as scn7. An important gene associated with Neutropenia, Severe Congenital, 7, Autosomal Recessive is CSF3R (Colony Stimulating Factor 3 Receptor). Affiliated tissues include bone marrow, bone and neutrophil, and related phenotypes are neutropenia and recurrent infections UniProtKB/Swiss-Prot : 73 Neutropenia, severe congenital 7, autosomal recessive: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. |
Human phenotypes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:31
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MalaCards organs/tissues related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:40
Bone Marrow,
Bone,
Neutrophil,
Myeloid
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Articles related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:
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ClinVar genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:6 (show top 50) (show all 94)
UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:73
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GEO
for disease gene expression data for Neutropenia, Severe Congenital, 7, Autosomal Recessive.
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