Neutropenia, severe congenital, 1, autosomal dominant

Preferred Label : Neutropenia, severe congenital, 1, autosomal dominant;

Symbol : SCN1;

CISMeF acronym : SCN1;

Type : Phenotype, molecular basis known;

Description : Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a 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 (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. - Genetic Heterogeneity of Severe Congenital Neutropenia Severe congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Autosomal dominant SCN2 (613107) is caused by mutation in the protooncogene GFI1 (600871) on chromosome 1p22. Autosomal recessive SCN3 (610738) is caused by mutation in the HAX1 gene (605998) on 1q21.3; autosomal recessive SCN4 (612541) is caused by mutation in the G6PC3 gene (611045) on 17q21; and autosomal recessive SCN5 (615285) is caused by mutation in the VPS45 gene (610035) on chromosome 1q. X-linked SCN (SCNX; 300299) is caused by mutation in the WAS gene (300392) on Xp11. See also adult chronic idiopathic nonimmune neutropenia (607847) and chronic benign familial neutropenia (162700). - Susceptibility to Myelodysplastic Syndrome/Acute Myeloid Leukemia SCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R; 138971) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neutrophil-expressed elastase gene (ELANE, 130130.0006);

Prefixed ID : #202700;

Details

Origin ID

202700;

UMLS CUI

C1859966;

Automatic exact mappings (from CISMeF team)
- ELANE wt Allele [NCIt concept]
- SCN1A wt Allele [NCIt concept]
Broader ORDO disease(s)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
Currated CISMeF NLP mapping
- Severe Congenital Neutropenia Type 1, Autosomal Dominant [NCIt concept]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH concept]
DO Cross reference
- severe congenital neutropenia 1 [DO Concept]
Genes related to phenotype
- Elastase, neutrophil-expressed [OMIM gene]
HPO term(s)
- Acute monocytic leukemia [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital agranulocytosis [HPO term]
- Eosinophilia [HPO term]
- Growth abnormality [HPO term]
- Increased circulating antibody level [HPO term]
- Infantile onset [HPO term]
- Monocytosis [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe Congenital Neutropenia Type 1, Autosomal Dominant [NCIt concept]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal dominant 1 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant severe congenital neutropenia [ORDO Disease]

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