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MIRAGE
autosomal recessive congenital ichthyosis 4A
Summary
- Synonym
-
- ARCI4A
- ICR2B
- ichthyosis congenita IIB
- lamellar ichthyosis 2
- Definition
- An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060712
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86UK0 | Glucosylceramide transporter ABCA12 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000989 | Pruritus |
| HP:0011039 | Abnormal helix morphology |
| HP:0000389 | Chronic otitis media |
| HP:0100806 | Sepsis |
| HP:0002205 | Recurrent respiratory infections |
| HP:0000164 | Abnormality of the dentition |
| HP:0008064 | Ichthyosis |
| HP:0000958 | Dry skin |
| HP:0100679 | Lack of skin elasticity |
| HP:0001597 | Abnormality of the nail |
