Details of Disease

General Information of Disease (ID: DIS25UA0)

• Disease Name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
• Synonyms: T-cell immunodeficiency, congenital alopecia and nail dystrophy; congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency; Pignata Guarino syndrome; winged helix deficiency; FOXN1 deficiency; T-cell immunodeficiency, congenital alopecia, and nail dystrophy; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; alymphoid cystic thymic dysgenesis; alopecia immunodeficiency
• Definition: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
• Disease Hierarchy:
  DIS6MF4Q: Severe combined immunodeficiency
  DIS25UA0: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0011132
  MESH ID: C536781
  UMLS CUI: C1866426
  OMIM ID: 601705
  MedGen ID: 355713
  Orphanet ID: 169095
  SNOMED CT ID: 720345008

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
FOXN1	OTE80D6I	Definitive	Semidominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.