Comparative

OMIA group 42

Analphalipoproteinaemia, ABCA1-related

The chain reaches the human disease Tangier disease, which Mondo defines as: “Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.”

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 2 species entries 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 0.84.

  5. Drugs

    Reached

    1 ChEMBL drug, 1 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.

Tangier disease

65.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.84 29.4 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 Both routes found this disease 10.0 of 10
Species 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted 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
chicken Gallus gallus OMIA:000042-9031 Yes
golden hamster Genetically engineered, not naturally occurring. Not counted in the score. Mesocricetus auratus OMIA:000042-10036 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
chicken ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 NCBI Gene 373945 ABCA1 Ensembl one to one
golden hamster Abca1 ATP binding cassette subfamily A member 1 NCBI Gene 101838333 ABCA1 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.

Mondo disease Name Found by
MONDO:0008783 Tangier disease Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. Both routes

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
ABCA1 Tangier disease 0.84 722 Genetic association 0.93 Genetic literature 0.72 Affected pathway 0.61 Literature 0.33 Animal model 0.32

Drugs

Drugs act on ABCA1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Probucol ABCA1 inhibitor Approved No

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