Details of Disease

General Information of Disease (ID: DISIR5YQ)

Disease Name Ichthyosis, congenital, autosomal recessive 12
Synonyms ARCI12; ichthyosis, congenital, autosomal recessive 12; ARCI12; ichthyosis, congenital, autosomal recessive type 12; ichthyosis, congenital, autosomal recessive 12
Definition Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.
Disease Hierarchy
DISVMSR6: Autosomal recessive congenital ichthyosis
DISIR5YQ: Ichthyosis, congenital, autosomal recessive 12
Disease Identifiers
MONDO ID
MONDO_0015018
UMLS CUI
C4310621
OMIM ID
617320
MedGen ID
934588

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CASP14 OTKY93H9 Moderate Autosomal recessive [1]
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References

1 Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. Acta Derm Venereol. 2017 Jan 4;97(1):102-104. doi: 10.2340/00015555-2510.