Details of Disease

General Information of Disease (ID: DIS687J0)

• Disease Name: Autosomal recessive congenital ichthyosis 4B
• Synonyms: Harlequin foetus; 'Harlequin fetus'; Harlequin fetus; ichthyosis congenita, Harlequin fetus type; ichthyosis, congenital, autosomal recessive 4B; ichthyosis congenita, Harlequin foetus type; hi; ichthyosis fetalis, Harlequin type; ARCI4B; ichthyosis, congenital, autosomal recessive type 4B; harlequin type ichthyosis congenita; Harlequin Ichthyosis; autosomal recessive congenital ichthyosis type 4B; harlequin type ichthyosis fetalis; harlequin ichthyosis; ichthyosis , congenital, autosomal recessive 4b (harlequin); ichthyosis congenita, Harlequin type
• Definition: Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
• Disease Hierarchy:
  DISYEOAR: Autosomal recessive congenital ichthyosis 4A
  DIS687J0: Autosomal recessive congenital ichthyosis 4B
• Disease Identifiers:
  MONDO ID: MONDO_0009443
  MESH ID: C538424
  UMLS CUI: C0598226
  OMIM ID: 242500
  MedGen ID: 108615
  Orphanet ID: 457

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA12	DT7LDG0	Strong	Autosomal recessive	[1]
ABCA12	DT7LDG0	Definitive	Biomarker	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CST6	OTZVHJTF	Limited	Biomarker	[3]
ABCA12	OTKH9YQZ	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.
• [2] Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.PLoS One. 2016 Aug 23;11(8):e0161465. doi: 10.1371/journal.pone.0161465. eCollection 2016.
• [3] Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice.Hum Mol Genet. 2004 May 15;13(10):1069-79. doi: 10.1093/hmg/ddh115. Epub 2004 Mar 25.