OMIA group 324

Ectrodactyly

The chain reaches the human disease acrocardiofacial syndrome, which Mondo defines as: “Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.” It reaches 12 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 5 species entries marked as a defect.
Human disease

Reached

13 Mondo diseases.
Human gene

Stopped here

No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
Target evidence

Not reached

The chain stopped before this step.
Drugs

Not reached

The chain stopped before this step.

The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

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.

acrocardiofacial syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

anonychia-ectrodactyly

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

anonychia-onychodystrophy with brachydactyly type b and ectrodactyly

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

ectrodactyly and ectodermal dysplasia without cleft lip/palate

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

ectrodactyly-cleft palate syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

ectrodactyly-polydactyly syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

EEM syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

fibular aplasia-ectrodactyly syndrome

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

Gollop-Wolfgang complex

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

split hand-foot malformation 1

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

split hand-foot malformation 6

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 naturally occurring species entries marked as a defect	10.0 of 10

split-hand/foot malformation with long bone deficiency 1

15.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	5 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
dog	Canis lupus familiaris	OMIA:000324-9615	Yes
domestic cat	Felis catus	OMIA:000324-9685	Yes
domestic cattle	Bos taurus	OMIA:000324-9913	Yes
sheep	Ovis aries	OMIA:000324-9940	Yes
tiger	Panthera tigris	OMIA:000324-9694	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
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	No gene	OMIA records no gene for this species entry.
sheep	No gene	OMIA records no gene for this species entry.
tiger	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:0010890	acrocardiofacial syndrome Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	OMIA's OMIM numbers
MONDO:0007132	anonychia-ectrodactyly	OMIA's OMIM numbers
MONDO:0007133	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	OMIA's OMIM numbers
MONDO:0007516	ectrodactyly and ectodermal dysplasia without cleft lip/palate	OMIA's OMIM numbers
MONDO:0007517	ectrodactyly-cleft palate syndrome	OMIA's OMIM numbers
MONDO:0007520	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.	OMIA's OMIM numbers
MONDO:0009156	ectrodactyly-polydactyly syndrome A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	OMIA's OMIM numbers
MONDO:0009155	EEM syndrome EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).	OMIA's OMIM numbers
MONDO:0007225	fibular aplasia-ectrodactyly syndrome Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.	OMIA's OMIM numbers
MONDO:0009222	Gollop-Wolfgang complex Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.	OMIA's OMIM numbers
MONDO:0008464	split hand-foot malformation 1 Split-hand/foot malformation mapped to chromosome 7q21.3	OMIA's OMIM numbers
MONDO:0009157	split hand-foot malformation 6 Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.	OMIA's OMIM numbers
MONDO:0007332	split-hand/foot malformation with long bone deficiency 1	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.

The chain did not reach target evidence.

Drugs

The chain did not reach the drugs.