Details of Disease

General Information of Disease (ID: DISDNKAH)

• Disease Name: IFAP syndrome 1, with or without BRESHECK syndrome
• Synonyms: ichthyosis follicularis atrichia photophobia syndrome; ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome with or without BRESHECK syndrome, X-linked recessive; IFAP syndrome with or without BRESHECK syndrome; IFAP/BRESHECK syndrome; ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
• Definition: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.
• Disease Hierarchy:
  DISCHYO2: IFAP syndrome
  DISHZGSA: X-linked recessive disease
  DISDNKAH: IFAP syndrome 1, with or without BRESHECK syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0100213
  UMLS CUI: C5399971
  OMIM ID: 308205
  MedGen ID: 1746744
  Orphanet ID: 2273

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
MBTPS2	OT67CC7W	Definitive	X-linked	[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.