Comparative

OMIA group 37

Amyloidosis, generic

The chain reaches the human disease ACys amyloidosis, which Mondo defines as: “Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.” It reaches 11 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.

  1. Animal disease

    Reached

    OMIA records it in 29 species entries marked as a defect.

  2. Human disease

    Reached

    12 Mondo diseases.

  3. Human gene

    Stopped here

    No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

  4. Target evidence

    Not reached

    The chain stopped before this step.

  5. 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.

Muckle-Wells syndrome

40.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached approved for this disease 25.0 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 29 naturally occurring species entries marked as a defect 10.0 of 10
plasma cell myeloma

40.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached approved for this disease 25.0 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 29 naturally occurring species entries marked as a defect 10.0 of 10
ACys amyloidosis

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 29 naturally occurring species entries marked as a defect 10.0 of 10
amyloidosis, cutaneous bullous

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 29 naturally occurring species entries marked as a defect 10.0 of 10
amyloidosis, hereditary systemic 1

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 29 naturally occurring species entries marked as a defect 10.0 of 10
amyloidosis of gingiva and conjunctiva with impaired intellectual development

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 29 naturally occurring species entries marked as a defect 10.0 of 10
amyloidosis, primary localized cutaneous, 1

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 29 naturally occurring species entries marked as a defect 10.0 of 10
familial visceral amyloidosis

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 29 naturally occurring species entries marked as a defect 10.0 of 10
Finnish type amyloidosis

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 29 naturally occurring species entries marked as a defect 10.0 of 10
gelatinous drop-like corneal dystrophy

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 29 naturally occurring species entries marked as a defect 10.0 of 10
Gerstmann-Straussler-Scheinker syndrome

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 29 naturally occurring species entries marked as a defect 10.0 of 10
X-linked reticulate pigmentary disorder

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 29 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
Amur leopard cat Prionailurus bengalensis euptilurus OMIA:000037-300877 Yes
black-footed cat Felis nigripes OMIA:000037-61379 Yes
black-footed ferret Mustela nigripes OMIA:000037-77151 Yes
blue-winged kookaburra Dacelo leachii OMIA:000037-342390 Yes
California sea lion Zalophus californianus OMIA:000037-9704 Yes
Cape rock hyrax Procavia capensis OMIA:000037-9813 Yes
chicken Gallus gallus OMIA:000037-9031 Yes
cotton-top tamarin Saguinus oedipus OMIA:000037-9490 Yes
dog Canis lupus familiaris OMIA:000037-9615 Yes
domestic cat Felis catus OMIA:000037-9685 Yes
Domestic goose Anser anser OMIA:000037-8843 Yes
Dorcas gazelle Gazella dorcas OMIA:000037-37751 Yes
ducks Anas OMIA:000037-8835 Yes
Eublepharis macularius Eublepharis macularius OMIA:000037-481883 Yes
goat Capra hircus OMIA:000037-9925 Yes
golden hamster Mesocricetus auratus OMIA:000037-10036 Yes
horse Equus caballus OMIA:000037-9796 Yes
Humboldt's penguin Spheniscus humboldti OMIA:000037-9240 Yes
Japanese quail Coturnix japonica OMIA:000037-93934 Yes
Lampropeltis getula Lampropeltis getula OMIA:000037-94887 Yes
leopard cat Prionailurus bengalensis OMIA:000037-37029 Yes
lion Panthera leo OMIA:000037-9689 Yes
mountain gazelle Gazella gazella OMIA:000037-69302 Yes
Nyctereutes viverrinus Nyctereutes viverrinus OMIA:000037-3370412 Yes
Rhesus monkey Macaca mulatta OMIA:000037-9544 Yes
sooty mangabey Cercocebus atys OMIA:000037-9531 Yes
Telescopus semiannulatus Telescopus semiannulatus OMIA:000037-292895 Yes
Testudo hermanni Testudo hermanni OMIA:000037-86976 Yes
tiger Panthera tigris OMIA:000037-9694 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
Amur leopard cat No gene OMIA records no gene for this species entry.
black-footed cat No gene OMIA records no gene for this species entry.
black-footed ferret No gene OMIA records no gene for this species entry.
blue-winged kookaburra No gene OMIA records no gene for this species entry.
California sea lion No gene OMIA records no gene for this species entry.
Cape rock hyrax No gene OMIA records no gene for this species entry.
chicken No gene OMIA records no gene for this species entry.
cotton-top tamarin No gene OMIA records no gene for this species entry.
dog No gene OMIA records no gene for this species entry.
domestic cat No gene OMIA records no gene for this species entry.
Domestic goose No gene OMIA records no gene for this species entry.
Dorcas gazelle No gene OMIA records no gene for this species entry.
ducks No gene OMIA records no gene for this species entry.
Eublepharis macularius No gene OMIA records no gene for this species entry.
goat No gene OMIA records no gene for this species entry.
golden hamster No gene OMIA records no gene for this species entry.
horse No gene OMIA records no gene for this species entry.
Humboldt's penguin No gene OMIA records no gene for this species entry.
Japanese quail No gene OMIA records no gene for this species entry.
Lampropeltis getula No gene OMIA records no gene for this species entry.
leopard cat No gene OMIA records no gene for this species entry.
lion No gene OMIA records no gene for this species entry.
mountain gazelle No gene OMIA records no gene for this species entry.
Nyctereutes viverrinus No gene OMIA records no gene for this species entry.
Rhesus monkey No gene OMIA records no gene for this species entry.
sooty mangabey No gene OMIA records no gene for this species entry.
Telescopus semiannulatus No gene OMIA records no gene for this species entry.
Testudo hermanni No gene OMIA records no gene for this species entry.
tiger 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.

Mondo disease Name Found by
MONDO:0007098 ACys amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. OMIA's OMIM numbers
MONDO:0008778 amyloidosis, cutaneous bullous OMIA's OMIM numbers
MONDO:0971004 amyloidosis, hereditary systemic 1 OMIA's OMIM numbers
MONDO:0008776 amyloidosis of gingiva and conjunctiva with impaired intellectual development OMIA's OMIM numbers
MONDO:0024522 amyloidosis, primary localized cutaneous, 1 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. OMIA's OMIM numbers
MONDO:0007099 familial visceral amyloidosis OMIA's OMIM numbers
MONDO:0007097 Finnish type amyloidosis OMIA's OMIM numbers
MONDO:0008777 gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. OMIA's OMIM numbers
MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. OMIA's OMIM numbers
MONDO:0008633 Muckle-Wells syndrome An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). OMIA's OMIM numbers
MONDO:0009693 plasma cell myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) OMIA's OMIM numbers
MONDO:0010523 X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. 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.