OMIA group 220
Severe combined immunodeficiency disease, autosomal, PRKDC-related
The chain reaches the human disease severe combined immunodeficiency due to DNA-PKcs deficiency, which Mondo defines as: “Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.”
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 0.75.
-
Drugs
Reached
1 ChEMBL drug, 0 approved. None has been tested for this disease.
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.
60.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.75 | 26.3 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 2 naturally occurring species entries marked as a defect | 7.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:000220-9615 | Yes |
| horse | Equus caballus | OMIA:000220-9796 | 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 |
|---|---|---|---|
| dog | PRKDC protein kinase, DNA-activated, catalytic polypeptide NCBI Gene 474176 | PRKDC Ensembl | one to one |
| horse | PRKDC protein kinase, DNA-activated, catalytic polypeptide NCBI Gene 791233 | Ensembl does not know this NCBI Gene identifier. | |
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:0014423 | severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. | 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 |
|---|---|---|---|---|
| PRKDC | severe combined immunodeficiency due to DNA-PKcs deficiency | 0.75 | 2,712 | Genetic literature 0.80 Genetic association 0.80 Literature 0.02 |
Drugs
Drugs act on PRKDC, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Cc-115 | PRKDC | inhibitor | Phase 2 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.