OMIA group 2739
Polyneuropathy, hypomyelinating, MPZ-related
The chain reaches the human disease Charcot-Marie-Tooth disease dominant intermediate D, which Mondo defines as: “Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.” It reaches 5 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 1 species entry marked as a defect.
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Human disease
Reached
6 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
5 Open Targets associations, with a best score of 0.83.
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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.
58.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 29.2 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
58.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 29.1 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
57.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.81 | 28.4 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
55.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.76 | 26.5 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
54.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.72 | 25.4 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 | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
29.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 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 | 1 naturally occurring species entry marked as a defect | 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:002739-9615 | 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 | MPZ myelin protein zero NCBI Gene 488654 | MPZ 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0011909 | Charcot-Marie-Tooth disease dominant intermediate D Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. | OMIA's OMIM numbers |
| MONDO:0007307 | Charcot-Marie-Tooth disease type 1B A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. | OMIA's OMIM numbers |
| MONDO:0011889 | Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. | OMIA's OMIM numbers |
| MONDO:0011903 | Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. | OMIA's OMIM numbers |
| MONDO:0007790 | Charcot-Marie-Tooth disease type 3 | OMIA's OMIM numbers |
| MONDO:0020765 | neuropathy, congenital hypomyelinating, 2 | 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 |
|---|---|---|---|---|
| MPZ | Charcot-Marie-Tooth disease type 1B | 0.83 | 280 | Genetic association 0.95 Genetic literature 0.73 Animal model 0.49 Literature 0.20 |
| MPZ | Charcot-Marie-Tooth disease type 3 | 0.83 | 166 | Genetic association 0.93 Genetic literature 0.83 Animal model 0.56 Literature 0.22 |
| MPZ | Charcot-Marie-Tooth disease type 2I | 0.81 | 54 | Genetic association 0.92 Genetic literature 0.73 Animal model 0.44 |
| MPZ | Charcot-Marie-Tooth disease type 2J | 0.76 | 34 | Genetic association 0.85 Genetic literature 0.73 Animal model 0.38 Literature 0.04 |
| MPZ | Charcot-Marie-Tooth disease dominant intermediate D | 0.72 | 76 | Genetic association 0.80 Genetic literature 0.67 Animal model 0.46 Literature 0.02 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.