Comparative

OMIA group 369

Feather colour, oculocutaneous albinism type I (OCA1), TYR-related

The chain reaches the human disease oculocutaneous albinism type 1A, which Mondo defines as: “Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.”

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 1 species entry marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.85.

  5. Drugs

    Reached

    3 ChEMBL drugs, 2 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.

oculocutaneous albinism type 1A

61.4 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.85 29.9 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 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
Agapornis fischeri Agapornis fischeri OMIA:000369-60463 Unknown, not counted
budgerigar Melopsittacus undulatus OMIA:000369-13146 Unknown, not counted
chicken Gallus gallus OMIA:000369-9031 Yes
Common canary Serinus canaria OMIA:000369-9135 No, not counted
Green-cheeked parakeet Pyrrhura molinae OMIA:000369-311895 Unknown, not counted
northern bobwhite Colinus virginianus OMIA:000369-9014 Unknown, not counted

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
chicken TYR tyrosinase NCBI Gene 373971 TYR Ensembl one to one
Agapornis fischeri Not a defect, not counted TYR No NCBI Gene identifier in OMIA.
budgerigar Not a defect, not counted No gene OMIA records no gene for this species entry.
Common canary Not a defect, not counted TYR tyrosinase NCBI Gene 103827249 TYR Ensembl one to one
Green-cheeked parakeet Not a defect, not counted No gene OMIA records no gene for this species entry.
northern bobwhite Not a defect, not counted 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:0008745 oculocutaneous albinism type 1A Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. 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
TYR oculocutaneous albinism type 1A 0.85 485 Genetic association 0.95 Genetic literature 0.82 Animal model 0.69 Literature 0.10

Drugs

Drugs act on TYR, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Arbutin TYR inhibitor Approved No
Monobenzone TYR inhibitor Approved No
Mequinol TYR inhibitor Unknown No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.