OMIA group 2179
Stargardt disease 1
The chain reaches the human disease severe early-childhood-onset retinal dystrophy, which Mondo defines as: “Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.” It reaches 1 more human disease, listed below.
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.
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Animal disease
Reached
OMIA records it in 3 species entries marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.84.
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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.
78.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.2 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 2 genetically engineered entries are not counted | 4.0 of 10 |
70.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 29.0 of 35 |
| Drugs | A drug has reached phase 1/2 for this disease | 12.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 2 genetically engineered entries are not counted | 4.0 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:002179-9615 | Yes |
| fat sand rat Genetically engineered, not naturally occurring. Not counted in the score. | Psammomys obesus | OMIA:002179-48139 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002179-9823 | 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 | ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 NCBI Gene 444852 | ABCA4 Ensembl | one to one |
| fat sand rat | Abca4 ATP binding cassette subfamily A member 4 NCBI Gene 129691983 | Ensembl has no gene cross-references for this species. | |
| pig | ABCA4 ATP binding cassette subfamily A member 4 NCBI Gene 100155583 | ABCA4 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: found a disease.
- OMIA's OMIM numbers: found a disease.
The two routes found different diseases. OMIA's own link is broader: its disease is a parent of one the OMIM numbers found.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009549 | severe early-childhood-onset retinal dystrophy Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. | OMIA's OMIM numbers |
| MONDO:0019353 | Stargardt disease Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. | OMIA's own Mondo link |
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 |
|---|---|---|---|---|
| ABCA4 | Stargardt disease | 0.84 | 976 | Genetic association 0.94 Genetic literature 0.81 Animal model 0.64 Literature 0.53 |
| ABCA4 | severe early-childhood-onset retinal dystrophy | 0.83 | 1,211 | Genetic association 0.98 Genetic literature 0.81 Animal model 0.56 Literature 0.26 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.