OMIA group 2287

Hypopigmentation and deafness

The chain reaches the human disease piebaldism, which Mondo defines as: “Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.”

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.

Animal disease

Reached

OMIA records it in 1 species entry marked as a defect.
Human disease

Reached

1 Mondo disease.
Human gene

Reached

1 human gene.
Target evidence

Reached

1 Open Targets association, with a best score of 0.82.
Drugs

Reached

32 ChEMBL drugs, 15 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.

piebaldism

60.1 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.82	28.6 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

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
pig	Sus scrofa	OMIA:002287-9823	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
pig	KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog NCBI Gene 396810	KIT 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.

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:0008244	piebaldism Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	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
KIT	piebaldism	0.82	204	Genetic association 0.91 Genetic literature 0.72 Animal model 0.56 Literature 0.05

Drugs

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

Drug	Acts on	How	Latest stage	Tested for this disease
Avapritinib	KIT	inhibitor	Approved	No
Catequentinib	KIT	inhibitor	Approved	No
Cediranib	KIT	inhibitor	Approved	No
Dasatinib Anhydrous	KIT	inhibitor	Approved	No
Imatinib	KIT	inhibitor	Approved	No
Masitinib	KIT	inhibitor	Approved	No
Midostaurin	KIT	inhibitor	Approved	No
Pazopanib	KIT	inhibitor	Approved	No
Pexidartinib	KIT	inhibitor	Approved	No
Quizartinib	KIT	inhibitor	Approved	No
Regorafenib	KIT	inhibitor	Approved	No
Ripretinib	KIT	inhibitor	Approved	No
Sorafenib	KIT	inhibitor	Approved	No
Sunitinib	KIT	inhibitor	Approved	No
Tivozanib	KIT	inhibitor	Approved	No
Dovitinib	KIT	inhibitor	Phase 3	No
Famitinib	KIT	inhibitor	Phase 3	No
Motesanib	KIT	inhibitor	Phase 3	No
Semaxanib	KIT	inhibitor	Phase 3	No
Seralutinib	KIT	inhibitor	Phase 3	No
Vatalanib	KIT	inhibitor	Phase 3	No
Amuvatinib	KIT	inhibitor	Phase 2	No
Briquilimab	KIT	inhibitor	Phase 2	No
Cm-082	KIT	inhibitor	Phase 2	No
Enmd-2076	KIT	inhibitor	Phase 2	No
Foretinib	KIT	inhibitor	Phase 2	No
Su-014813	KIT	inhibitor	Phase 2	No
Tandutinib	KIT	inhibitor	Phase 2	No
Telatinib	KIT	inhibitor	Phase 2	No
Xl-820	KIT	inhibitor	Phase 2	No
Xl-999	KIT	inhibitor	Phase 2	No
Osi-930	KIT	inhibitor	Phase 1	No

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