Details of Disease

General Information of Disease (ID: DISXNNPN)

• Disease Name: Autosomal recessive congenital ichthyosis 5
• Synonyms: type 3 lamellar ichthyosis; ichthyosis, congenital, autosomal recessive 5; ichthyosis congenita 3; ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive; LI3, formerly; ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive; ichthyosis, lamellar, 3, formerly; ichthyosis, lamellar, 3; ichthyosis lamellar 3; lamellar ichthyosis, type 3; NNCI; ichthyosis congenita III; autosomal recessive congenital ichthyosis 5; ARCI5; autosomal recessive congenital ichthyosis type 5; ichthyosis, congenital, autosomal recessive type 5; autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
• Definition: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
• Disease Hierarchy:
  DIS714UN: Lamellar ichthyosis
  DISVMSR6: Autosomal recessive congenital ichthyosis
  DISXNNPN: Autosomal recessive congenital ichthyosis 5
• Disease Identifiers:
  MONDO ID: MONDO_0011485
  MESH ID: C565749
  UMLS CUI: C1858133
  OMIM ID: 604777
  MedGen ID: 347628

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
CYP4F22	OTMNPZQL	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.