Details of Disease | DrugMAP

General Information of Disease (ID: DIS9HRE9)

Disease Name	Autosomal recessive congenital ichthyosis 6
Synonyms	ichthyosis, congenital, autosomal recessive 6; ichthyosis, congenital, autosomal recessive, Nipal4-related; autosomal recessive congenital ichthyosis type 6; ichthyosis, congenital, autosomal recessive type 6; ARCI6
Definition	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.
Disease Hierarchy	DIS714UN: Lamellar ichthyosis DISV8HQX: Congenital ichthyosiform erythroderma DISVMSR6: Autosomal recessive congenital ichthyosis DIS9HRE9: Autosomal recessive congenital ichthyosis 6
Disease Identifiers	MONDO ID MONDO_0012847 UMLS CUI C2677065 OMIM ID 612281 MedGen ID 436851

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAM19	OTH88TXU	Limited	CausalMutation	[1]
NIPAL4	OT43JC9A	Definitive	Autosomal recessive	[2]
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References

1	Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Orphanet J Rare Dis. 2016 Jan 13;11:4. doi: 10.1186/s13023-016-0384-4.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.