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MIRAGE
autosomal recessive congenital ichthyosis 6
Summary
- Synonym
-
- ARCI6
- Definition
- An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060715
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q0D2K0 | Magnesium transporter NIPA4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0000966 | Hypohidrosis |
| HP:0008064 | Ichthyosis |
| HP:0000491 | Keratitis |
| HP:0001597 | Abnormality of the nail |
| HP:0000989 | Pruritus |
| HP:0000365 | Hearing impairment |
| HP:0001019 | Erythroderma |
| HP:0004322 | Short stature |
| HP:0000656 | Ectropion |
