OMIA group 428
Haemochromatosis
The chain reaches the human disease hemochromatosis type 1, which Mondo defines as: “Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease” 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 10 species entries marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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.
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 10 naturally occurring species entries marked as a defect | 10.0 of 10 |
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 10 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 |
|---|---|---|---|
| black rhinoceros | Diceros bicornis | OMIA:000428-9805 | Yes |
| dog | Canis lupus familiaris | OMIA:000428-9615 | Yes |
| domestic cattle | Bos taurus | OMIA:000428-9913 | Yes |
| hill myna | Gracula religiosa | OMIA:000428-116992 | Yes |
| horse | Equus caballus | OMIA:000428-9796 | Yes |
| lesser dwarf lemur | Cheirogaleus medius | OMIA:000428-9460 | Yes |
| red deer | Cervus elaphus | OMIA:000428-9860 | Yes |
| Ring-tailed lemur | Lemur catta | OMIA:000428-9447 | Yes |
| Sumatran rhinoceros | Dicerorhinus sumatrensis | OMIA:000428-89632 | Yes |
| white-tufted-ear marmoset | Callithrix jacchus | OMIA:000428-9483 | 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 |
|---|---|---|---|
| black rhinoceros | No gene | OMIA records no gene for this species entry. | |
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| hill myna | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| lesser dwarf lemur | No gene | OMIA records no gene for this species entry. | |
| red deer | No gene | OMIA records no gene for this species entry. | |
| Ring-tailed lemur | No gene | OMIA records no gene for this species entry. | |
| Sumatran rhinoceros | No gene | OMIA records no gene for this species entry. | |
| white-tufted-ear marmoset | 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:0021001 | hemochromatosis type 1 Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease | OMIA's OMIM numbers |
| MONDO:0009275 | neonatal hemochromatosis Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 | 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.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.