Details of Disease

General Information of Disease (ID: DISKFZSE)

Disease Name Autosomal recessive congenital ichthyosis 2
Synonyms
ichthyosis, congenital, autosomal recessive 2; ichthyosiform erythroderma, nonbullous congenital, 1, formerly; ichthyosiform erythroderma, nonbullous congenital, 1; ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly; NCIE; ichthyosiform erythroderma, Brocq congenital, nonbullous form; collodion baby, self-healing; NBCIE; ichthyosiform erythroderma, congenital, nonbullous, 1; autosomal recessive congenital ichthyosis type 2; ichthyosis, congenital, autosomal recessive type 2; ARCI2; NCIE1; nonbullous congenital ichthyosiform erythroderma 1; Brocq congenital ichthyosiform erythroderma nonbullous form
Definition An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.
Disease Hierarchy
DIS1EEFN: Self-healing collodion baby
DISV8HQX: Congenital ichthyosiform erythroderma
DISKFZSE: Autosomal recessive congenital ichthyosis 2
Disease Identifiers
MONDO ID
MONDO_0009439
UMLS CUI
C3888093
OMIM ID
242100
MedGen ID
854762

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALOX12B TTQ4QQH Strong Genetic Variation [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALOX12B DEISPU8 Strong Autosomal recessive [2]
SULT2B1 DEZBN53 Strong CausalMutation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALOX12B OTQ0BYK6 Strong 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 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 SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007.