Human disease
Phelan-McDermid syndrome
Mondo defines it as: “A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.”
1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 2402 | Phelan-McDermid syndrome | OMIA's OMIM numbers | 2 | Target evidence |
53.2
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| SHANK3 | 0.81 | 458 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
| Drug | Acts on | Latest stage for this disease |
|---|---|---|
| Lithium Carbonate | None of these genes | Phase 3 |
| Nnz-2591 | None of these genes | Phase 3 |
| Diazepinomicin | None of these genes | Phase 2 |
| Mecasermin | None of these genes | Phase 2 |
| Oxytocin | None of these genes | Phase 2 |
| Somatropin | None of these genes | Phase 2 |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.