Details of Disease

General Information of Disease (ID: DISDR6N8)

• Disease Name: Kostmann syndrome
• Synonyms: Kostmann disease; SCN3; severe congenital neutropenia autosomal recessive 3; agranulocytosis, infantile; neutropenia, severe congenital, 3, autosomal recessive; agranulocytosis infantile; severe congenital neutropenia type 3; infantile agranulocytosis; neutropenia, severe congenital 3, autosomal recessive
• Definition: Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
• Disease Hierarchy:
  DISGXLG5: Hereditary neoplastic syndrome
  DIS664S0: Autosomal recessive severe congenital neutropenia
  DISDR6N8: Kostmann syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012548
  MESH ID: C537592
  UMLS CUI: C5235141
  OMIM ID: 610738
  MedGen ID: 1713491
  Orphanet ID: 99749
  SNOMED CT ID: 770942003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HAX1	TT21BYA	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HAX1	OTOJWV3F	Definitive	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.