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autosomal recessive congenital ichthyosis 1
Summary
- Synonym
-
- ARCI1
- Definition
- An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060656
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 242 | ALOX12B | arachidonate 12-lipoxygenase, 12R type | |
| 280 | AMY2B | amylase alpha 2B | |
| 412 | STS | steroid sulfatase | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 6820 | SULT2B1 | sulfotransferase family 2B member 1 | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 8694 | DGAT1 | diacylglycerol O-acyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q9GZR5 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100806 | Sepsis |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
