Neutropenia, severe congenital, 3, autosomal recessive

Preferred Label : Neutropenia, severe congenital, 3, autosomal recessive;

Symbol : SCN3;

CISMeF acronym : SCN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kostmann disease; Agranulocytosis, infantile;

Description : Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010). The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes. In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (257100), Chediak-Higashi syndrome (214500), and Fanconi pancytopenic syndrome (see 227650). For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HCLS1-associated protein X1 (HAX1, 605998.0001).;

Neoplasia : Increased risk of myelodysplastic syndromes; Increased risk of leukemia;

Prefixed ID : #610738;

Details

Origin ID

610738;

UMLS CUI

C5235141;

Automatic exact mappings (from CISMeF team)
- HAX1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
Currated CISMeF NLP mapping
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Severe Congenital Neutropenia Type 3, Autosomal Recessive [NCIt concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
Genes related to phenotype
- Hcls1-associated protein x1 [OMIM gene]
HPO term(s)
- Acute lymphoblastic leukemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Clumsiness [HPO term]
- Conductive hearing impairment [HPO term]
- Global developmental delay [HPO term]
- Impaired vibratory sensation [HPO term]
- Increased risk of leukemia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Myelodysplasia [HPO term]
- Myelodysplastic syndrome [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Kostmann syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Congenital Neutropenia [NCIt concept]
- Congenital agranulocytosis [HPO term]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Severe Congenital Neutropenia [NCIt concept]
- Severe Congenital Neutropenia Type 3, Autosomal Recessive [NCIt concept]
- Severe congenital neutropenia [ORDO Disease]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Congenital Neutropenia [NCIt concept]
- congenital neutropenia [Disease (Nov.)]
- obsolete Congenital neutropenia [HPO term]

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