Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00650 |
Allan-Herndon-Dudley syndrome Monocarboxylate transporter 8 deficiency |
... involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by mutations in the SLC16A2 gene, encoding MCT8 which is a specific transporter for thyroid hormone T3. | Endocrine and metabolic disease | SLC16A2 [HSA:6567] [KO:K08231] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |