OMIA group 1213

Premature senesence

The chain reaches the human disease Hutchinson-Gilford progeria syndrome, which Mondo defines as: “Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).”

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 2 species entries 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 0.83.
Drugs

Stopped here

No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

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.

Hutchinson-Gilford progeria syndrome

83.0 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.83	29.0 of 35
Drugs	A drug has reached approved for this disease	25.0 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. 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
pig Genetically engineered, not naturally occurring. Not counted in the score.	Sus scrofa	OMIA:001213-9823	Yes
rabbit Naturally occurring, and also genetically engineered.	Oryctolagus cuniculus	OMIA:001213-9986	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	LMNA lamin A/C NCBI Gene 100126859	LMNA Ensembl	one to one
rabbit	LMNA lamin A/C NCBI Gene 100343574	LMNA 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:0008310	Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).	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
LMNA	Hutchinson-Gilford progeria syndrome	0.83	1,388	Literature 0.94 Genetic association 0.91 Genetic literature 0.84 Animal model 0.49

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.