autosomal recessive congenital ichthyosis 5

Summary
Synonym
  • ARCI5
  • autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
Definition
An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
Super Class
autosomal recessive congenital ichthyosis
External Links
Disease Ontology
DOID:0060714
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 8 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
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
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 11 - 20 of 21 in total
HPO ID HPO Term
HP:0001944 Dehydration
HP:0002205 Recurrent respiratory infections
HP:0004322 Short stature
HP:0008064 Ichthyosis
HP:0008070 Sparse hair
HP:0011039 Abnormal helix morphology
HP:0100543 Cognitive impairment
HP:0100679 Lack of skin elasticity
HP:0100758 Gangrene
HP:0100806 Sepsis
Displaying all 2 entries
Gene ID Gene Symbol Description
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
6820 SULT2B1 sulfotransferase family 2B member 1

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024