OMIA group 810
Polydactyly
The chain reaches the human disease polydactyly of a triphalangeal thumb, which Mondo defines as: “A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.” 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 19 species entries marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Reached
3 human genes.
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Target evidence
Reached
6 Open Targets associations, with a best score of 0.78.
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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.
62.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.78 | 27.2 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 19 naturally occurring species entries marked as a defect | 10.0 of 10 |
58.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.67 | 23.4 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 19 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 |
|---|---|---|---|
| alpaca | Vicugna pacos | OMIA:000810-30538 | Yes |
| Arabian camel | Camelus dromedarius | OMIA:000810-9838 | Yes |
| big-eared opossum | Didelphis aurita | OMIA:000810-85694 | Yes |
| chicken | Gallus gallus | OMIA:000810-9031 | Yes |
| dog | Canis lupus familiaris | OMIA:000810-9615 | Yes |
| domestic cat | Felis catus | OMIA:000810-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000810-9913 | Yes |
| domestic guinea pig | Cavia porcellus | OMIA:000810-10141 | Yes |
| goat | Capra hircus | OMIA:000810-9925 | Yes |
| guanaco | Lama guanicoe | OMIA:000810-9840 | Yes |
| horse | Equus caballus | OMIA:000810-9796 | Yes |
| llama | Lama glama | OMIA:000810-9844 | Yes |
| pig | Sus scrofa | OMIA:000810-9823 | Yes |
| rock pigeon | Columba livia | OMIA:000810-8932 | Yes |
| sheep | Ovis aries | OMIA:000810-9940 | Yes |
| springbok | Antidorcas marsupialis | OMIA:000810-59523 | Yes |
| turkey | Meleagris gallopavo | OMIA:000810-9103 | Yes |
| western gray kangaroo | Macropus fuliginosus | OMIA:000810-9316 | Yes |
| Western roe deer | Capreolus capreolus | OMIA:000810-9858 | 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 |
|---|---|---|---|
| alpaca | No gene | OMIA records no gene for this species entry. | |
| Arabian camel | No gene | OMIA records no gene for this species entry. | |
| big-eared opossum | No gene | OMIA records no gene for this species entry. | |
| chicken | SHH sonic hedgehog NCBI Gene 395615 | SHH Ensembl | one to one |
| dog | ALX4 ALX homeobox 4 NCBI Gene 609979 | ALX4 Ensembl | one to one |
| dog | SHH sonic hedgehog NCBI Gene 608860 | SHH Ensembl | one to one |
| domestic cat | LMBR1 limb development membrane protein 1 NCBI Gene 101088917 | LMBR1 Ensembl | one to one |
| domestic cat | SHH sonic hedgehog NCBI Gene 100169727 | Ensembl does not know this NCBI Gene identifier. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| domestic guinea pig | No gene | OMIA records no gene for this species entry. | |
| goat | No gene | OMIA records no gene for this species entry. | |
| guanaco | No gene | OMIA records no gene for this species entry. | |
| horse | LMBR1 limb development membrane protein 1 NCBI Gene 100066736 | Ensembl does not know this NCBI Gene identifier. | |
| llama | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| rock pigeon | No gene | OMIA records no gene for this species entry. | |
| sheep | No gene | OMIA records no gene for this species entry. | |
| springbok | No gene | OMIA records no gene for this species entry. | |
| turkey | No gene | OMIA records no gene for this species entry. | |
| western gray kangaroo | No gene | OMIA records no gene for this species entry. | |
| Western roe deer | 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:0008270 | polydactyly of a triphalangeal thumb A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. | OMIA's OMIM numbers |
| MONDO:0008572 | tibia, hypoplasia or aplasia of, with polydactyly Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. | 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 |
|---|---|---|---|---|
| LMBR1 | polydactyly of a triphalangeal thumb | 0.78 | 138 | Genetic literature 0.88 Genetic association 0.83 Animal model 0.49 |
| LMBR1 | tibia, hypoplasia or aplasia of, with polydactyly | 0.67 | 10 | Genetic association 0.80 Genetic literature 0.78 Animal model 0.46 |
| SHH | polydactyly of a triphalangeal thumb | 0.53 | 8 | Genetic association 0.61 Genetic literature 0.61 Animal model 0.42 Literature 0.02 |
| SHH | tibia, hypoplasia or aplasia of, with polydactyly | 0.38 | 2 | Genetic literature 0.61 Animal model 0.30 |
| ALX4 | polydactyly of a triphalangeal thumb | 0.08 | 8 | Animal model 0.64 |
| ALX4 | tibia, hypoplasia or aplasia of, with polydactyly | 0.07 | 8 | Animal model 0.58 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.