OMIA group 963

Syndactyly

The chain reaches the human disease Cenani-Lenz syndactyly syndrome, which Mondo defines as: “Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.” It reaches 3 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.

Animal disease

Reached

OMIA records it in 7 species entries marked as a defect.
Human disease

Reached

4 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

4 Open Targets associations, 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.

Cenani-Lenz syndactyly syndrome

64.0 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.83	29.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

syndactyly type 3

37.8 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.08	2.8 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

syndactyly type 4

37.8 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.08	2.8 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

syndactyly type 5

37.5 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.07	2.5 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	7 naturally occurring species entries marked as a defect	10.0 of 10

Species

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

Species	Scientific name	OMIA entry	A defect
big-eared opossum	Didelphis aurita	OMIA:000963-85694	Yes
chicken	Gallus gallus	OMIA:000963-9031	Yes
dog	Canis lupus familiaris	OMIA:000963-9615	Yes
domestic cat	Felis catus	OMIA:000963-9685	Yes
domestic cattle	Bos taurus	OMIA:000963-9913	Yes
pig	Sus scrofa	OMIA:000963-9823	No, not counted
sheep	Ovis aries	OMIA:000963-9940	Yes
Swainson's hawk	Buteo swainsoni	OMIA:000963-156757	Yes
tammar wallaby	Notamacropus eugenii	OMIA:000963-9315	No, 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
big-eared opossum	No gene	OMIA records no gene for this species entry.
chicken	No gene	OMIA records no gene for this species entry.
dog	No gene	OMIA records no gene for this species entry.
domestic cat	No gene	OMIA records no gene for this species entry.
domestic cattle	LRP4 LDL receptor related protein 4 NCBI Gene 504317	LRP4 Ensembl	one to one
sheep	No gene	OMIA records no gene for this species entry.
Swainson's hawk	No gene	OMIA records no gene for this species entry.
pig Not a defect, not counted	No gene	OMIA records no gene for this species entry.
tammar wallaby 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.

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:0008931	Cenani-Lenz syndactyly syndrome Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.	OMIA's OMIM numbers
MONDO:0008514	syndactyly type 3 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.	OMIA's OMIM numbers
MONDO:0008515	syndactyly type 4 A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).	OMIA's OMIM numbers
MONDO:0008516	syndactyly type 5 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.	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
LRP4	Cenani-Lenz syndactyly syndrome	0.83	1,430	Genetic association 0.90 Genetic literature 0.84 Animal model 0.51 Literature 0.29
LRP4	syndactyly type 3	0.08	7	Animal model 0.65
LRP4	syndactyly type 4	0.08	14	Animal model 0.65
LRP4	syndactyly type 5	0.07	9	Animal model 0.60

Drugs

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