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autosomal recessive congenital ichthyosis 3
Summary
- Synonym
-
- ARCI3
- lamellar ichthyosis 5
- Definition
- An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060711
- 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:0001597 | Abnormality of the nail |
| 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 |
