Details of Disease

General Information of Disease (ID: DISYEOAR)

• Disease Name: Autosomal recessive congenital ichthyosis 4A
• Synonyms: LI2; ichthyosis, lamellar, 2, formerly; ichthyosis, lamellar, 2; lamellar ichthyosis, type 2; ichthyosis congenita 2B; ichthyosis lamellar 2; ichthyosis, congenital, autosomal recessive 4A; ichthyosis congenita IIB; lamellar ichthyosis 2; ichthyosis, congenital, autosomal recessive type 4A; ARCI4A; autosomal recessive congenital ichthyosis type 4A; ICR2B
• Definition: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.
• Disease Hierarchy:
  DIS714UN: Lamellar ichthyosis
  DISVMSR6: Autosomal recessive congenital ichthyosis
  DISYEOAR: Autosomal recessive congenital ichthyosis 4A
• Disease Identifiers:
  MONDO ID: MONDO_0011026
  MESH ID: C537264
  UMLS CUI: C1832550
  OMIM ID: 601277
  MedGen ID: 371355

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA12	DT7LDG0	Limited	Genetic Variation	[1]
ABCA12	DT7LDG0	Strong	Autosomal recessive	[2]
ABCA3	DT2T6VQ	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCA12	OTKH9YQZ	Strong	Autosomal recessive	[2]

References

• [1] Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638.
• [2] 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.
• [3] Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005 Jul;115(7):1777-84. doi: 10.1172/JCI24834.