Comparative

OMIA group 1765

Waardenburg syndrome, type 4A

The chain reaches the human disease ABCD syndrome, which Mondo defines as: “An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).” It reaches 2 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 1 species entry marked as a defect.

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.78.

  5. Drugs

    Reached

    9 ChEMBL drugs, 5 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.

Waardenburg syndrome type 4A

58.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.78 27.2 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
ABCD syndrome

54.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.65 22.6 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
Hirschsprung disease, susceptibility to, 2

31.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 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
sheep Ovis aries OMIA:001765-9940 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
sheep EDNRB endothelin receptor type B NCBI Gene 443139 EDNRB 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:0010895 ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). OMIA's OMIM numbers
MONDO:0010833 Hirschsprung disease, susceptibility to, 2 An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. OMIA's OMIM numbers
MONDO:0010192 Waardenburg syndrome type 4A A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. 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
EDNRB Waardenburg syndrome type 4A 0.78 56 Genetic association 0.86 Genetic literature 0.82 Animal model 0.37 Literature 0.07
EDNRB ABCD syndrome 0.65 21 Genetic literature 0.78 Genetic association 0.64 Animal model 0.48 Literature 0.08

Drugs

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

Drug Acts on How Latest stage Tested for this disease
Ambrisentan EDNRB antagonist Approved No
Aprocitentan EDNRB antagonist Approved No
Bosentan EDNRB antagonist Approved No
Macitentan EDNRB antagonist Approved No
Sitaxentan EDNRB antagonist Approved No
Darusentan EDNRB antagonist Phase 3 No
Tezosentan EDNRB antagonist Phase 3 No
Enrasentan EDNRB antagonist Phase 2 No
Rg-7636 EDNRB binding agent Phase 1 No

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