Details of Disease | DrugMAP

General Information of Disease (ID: DISOZX40)

Disease Name	Autosomal recessive congenital ichthyosis 11
Synonyms	ichthyosis with hypotrichosis, autosomal recessive; ARIH; ichthyosis, congenital, autosomal recessive 11; ARCI11; hypotrichosis-congenital ichthyosis syndrome; ichthyosis, congenital, autosomal recessive type 11; autosomal recessive ichthyosis with hypotrichosis; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; autosomal recessive congenital ichthyosis type 11; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; IFAH syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-hypotrichosis syndrome; autosomal recessive congenital ichthyosis 11; IHS
Disease Hierarchy	DISVMSR6: Autosomal recessive congenital ichthyosis DISOZX40: Autosomal recessive congenital ichthyosis 11
Disease Identifiers	MONDO ID MONDO_0011218 MESH ID C536273 UMLS CUI C1835851 OMIM ID 602400 MedGen ID 332073 Orphanet ID 91132

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ST14	TTPRO7W	Limited	Genetic Variation	[1]
ST14	TTPRO7W	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ST14	OTASTKZK	Strong	Autosomal recessive	[2]
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References

1	A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.Eur J Dermatol. 2018 Apr 1;28(2):209-216. doi: 10.1684/ejd.2017.3210.
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.