OMIA group 629
Megacolon
The chain reaches the human disease ABCD syndrome, which Mondo defines as: “An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).” It reaches 2 more human diseases, 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 5 species entries marked as a defect.
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Human disease
Reached
3 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 0.78.
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Drugs
Reached
9 ChEMBL drugs, 5 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.
64.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.78 | 27.2 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 | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
60.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.65 | 22.6 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 | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
37.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 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 | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cat | Felis catus | OMIA:000629-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000629-9913 | Yes |
| horse | Equus caballus | OMIA:000629-9796 | Yes |
| pig | Sus scrofa | OMIA:000629-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:000629-9986 | 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 |
|---|---|---|---|
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| horse | EDNRB endothelin receptor type B NCBI Gene 100033875 | EDNRB Ensembl | one to one |
| pig | No gene | OMIA records no gene for this species entry. | |
| rabbit | No gene | OMIA records no gene for this species entry. | |
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:0010895 | ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). | OMIA's OMIM numbers |
| MONDO:0010833 | Hirschsprung disease, susceptibility to, 2 An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. | OMIA's OMIM numbers |
| MONDO:0010192 | Waardenburg syndrome type 4A A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. | 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 |
|---|---|---|---|---|
| EDNRB | Waardenburg syndrome type 4A | 0.78 | 56 | Genetic association 0.86 Genetic literature 0.82 Animal model 0.37 Literature 0.07 |
| EDNRB | ABCD syndrome | 0.65 | 21 | Genetic literature 0.78 Genetic association 0.64 Animal model 0.48 Literature 0.08 |
Drugs
Drugs act on EDNRB, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Ambrisentan | EDNRB | antagonist | Approved | No |
| Aprocitentan | EDNRB | antagonist | Approved | No |
| Bosentan | EDNRB | antagonist | Approved | No |
| Macitentan | EDNRB | antagonist | Approved | No |
| Sitaxentan | EDNRB | antagonist | Approved | No |
| Darusentan | EDNRB | antagonist | Phase 3 | No |
| Tezosentan | EDNRB | antagonist | Phase 3 | No |
| Enrasentan | EDNRB | antagonist | Phase 2 | No |
| Rg-7636 | EDNRB | binding agent | Phase 1 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.