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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 |
|---|---|---|---|
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 9526 | MPDU1 | mannose-P-dolichol utilization defect 1 | |
| 9663 | LPIN2 | lipin 2 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 91949 | COG7 | component of oligomeric golgi complex 7 | |
| 204219 | CERS3 | ceramide synthase 3 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0000164 | Abnormality of the dentition |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000389 | Chronic otitis media |
| HP:0000656 | Ectropion |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000989 | Pruritus |
| HP:0001019 | Erythroderma |
| HP:0001376 | Limitation of joint mobility |
