autosomal recessive congenital ichthyosis 2

Summary
Synonym
  • ARCI2
  • BROCQ congenital ichthyosiform erythroderma nonbullous form
  • NCIE1
  • nonbullous congenital ichthyosiform erythroderma 1
Definition
An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
Super Class
autosomal recessive congenital ichthyosis
External Links
Disease Ontology
DOID:0060710
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
412 STS steroid sulfatase
2629 GBA1 glucosylceramidase beta 1
6820 SULT2B1 sulfotransferase family 2B member 1
91949 COG7 component of oligomeric golgi complex 7
204219 CERS3 ceramide synthase 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0001376 Limitation of joint mobility
HP:0008064 Ichthyosis
HP:0001019 Erythroderma
HP:0000656 Ectropion
HP:0001596 Alopecia
HP:0000491 Keratitis
HP:0001508 Failure to thrive
HP:0004322 Short stature
HP:0000982 Palmoplantar keratoderma
HP:0000365 Hearing impairment
Displaying all 3 entries
Gene ID Gene Symbol Description
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
204219 CERS3 ceramide synthase 3
6820 SULT2B1 sulfotransferase family 2B member 1

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Last updated: August 19, 2024