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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75342 | Arachidonate 12-lipoxygenase, 12R-type | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P08842 | Steryl-sulfatase | |
| P51648 | Aldehyde dehydrogenase family 3 member A2 | |
| P83436 | Conserved oligomeric Golgi complex subunit 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003241 | External genital hypoplasia |
| HP:0000970 | Anhidrosis |
| HP:0007431 | Congenital ichthyosiform erythroderma |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003470 | Paralysis |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0001792 | Small nail |
| HP:0010783 | Erythema |
| HP:0001595 | Abnormal hair morphology |
| HP:0006889 | Intellectual disability, borderline |
