Details of Disease

General Information of Disease (ID: DISRCEYL)

• Disease Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
• Synonyms: fils; facial dysmorphism, immunodeficiency, livedo, and short stature; fils syndrome
• Definition: A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and nave T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISRCEYL: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014058
  UMLS CUI: C3554576
  OMIM ID: 615139
  MedGen ID: 767490
  Orphanet ID: 352712

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLE	OTFM3MMU	Strong	Autosomal recessive	[1]

References

• [1] Polymerase 1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10.