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alpha thalassemia-intellectual disability syndrome type 1
Summary
- Synonym
-
- ATR syndrome linked to chromosome 16
- ATR syndrome, deletion type
- ATR-16 syndrome
- alpha thalassemia-intellectual disability syndrome, deletion type
- alpha thalassemia-retardation syndrome
- alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- alpha-thalassemia/mental retardation syndrome, deletion-type
- alpha-thalassemia/mental retardation syndrome, type 1
- Definition
- An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
- Super Class
- alpha thalassemia chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0110029
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | |
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 |
