OMIA group 1431
Vitamin D-deficiency rickets, type II
The chain reaches the human disease vitamin D-dependent rickets, type 2, which Mondo defines as: “Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.” 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 2 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
1 Open Targets association, with a best score of 0.82.
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Drugs
Reached
18 ChEMBL drugs, 9 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.
63.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.82 | 28.7 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 |
34.5 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 | 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:001431-9615 | Yes |
| domestic cat | Felis catus | OMIA:001431-9685 | 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 | VDR vitamin D (1,25- dihydroxyvitamin D3) receptor NCBI Gene 486588 | VDR Ensembl | one to one |
| domestic cat | VDR vitamin D (1,25- dihydroxyvitamin D3) receptor NCBI Gene 100316614 | VDR 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:0019642 | vitamin D-dependent rickets, type 2 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. | OMIA's own Mondo link |
| MONDO:0010186 | vitamin D-dependent rickets, type 2A Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. | 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 |
|---|---|---|---|---|
| VDR | vitamin D-dependent rickets, type 2 | 0.82 | 392 | Genetic association 0.92 Genetic literature 0.78 Animal model 0.69 Literature 0.20 |
Drugs
Drugs act on VDR, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Alfacalcidol | VDR | agonist | Approved | No |
| Calcipotriene | VDR | agonist | Approved | No |
| Calcitriol | VDR | agonist | Approved | No |
| Cholecalciferol | VDR | agonist | Approved | No |
| Dihydrotachysterol | VDR | agonist | Approved | No |
| Doxercalciferol | VDR | agonist | Approved | No |
| Eldecalcitol | VDR | agonist | Approved | No |
| Ergocalciferol | VDR | agonist | Approved | No |
| Paricalcitol | VDR | agonist | Approved | No |
| Pefcalcitol | VDR | agonist | Phase 3 | No |
| Seocalcitol | VDR | agonist | Phase 3 | No |
| Becocalcidiol | VDR | agonist | Phase 2 | No |
| Dp001 | VDR | agonist | Phase 2 | No |
| Elocalcitol | VDR | agonist | Phase 2 | No |
| Inecalcitol | VDR | agonist | Phase 2 | No |
| Lunacalcipol | VDR | agonist | Phase 2 | No |
| Ilx23-7553 | VDR | agonist | Phase 1 | No |
| Calcifediol Anhydrous | VDR | agonist | Unknown | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.