OMIA group 2402
Phelan-McDermid syndrome
The chain reaches the human disease Phelan-McDermid syndrome, which Mondo defines 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.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
-
Animal disease
Reached
OMIA records it in 2 species entries marked as a defect.
-
Human disease
Reached
1 Mondo disease.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
1 Open Targets association, with a best score of 0.81.
-
Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
53.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.81 | 28.2 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 0 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 0.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| crab-eating macaque Genetically engineered, not naturally occurring. Not counted in the score. | Macaca fascicularis | OMIA:002402-9541 | Yes |
| dog Genetically engineered, not naturally occurring. Not counted in the score. | Canis lupus familiaris | OMIA:002402-9615 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| crab-eating macaque | SHANK3 SH3 and multiple ankyrin repeat domains 3 NCBI Gene 102129042 | Ensembl does not know this NCBI Gene identifier. | |
| dog | SHANK3 SH3 and multiple ankyrin repeat domains 3 NCBI Gene 474456 | SHANK3 Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0011652 | Phelan-McDermid syndrome 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. | OMIA's OMIM numbers |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| SHANK3 | Phelan-McDermid syndrome | 0.81 | 458 | Genetic association 0.90 Genetic literature 0.81 Literature 0.34 Animal model 0.28 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.