Comparative

OMIA group 1046

Vertebral anomalies

The chain reaches the human disease cardiospondylocarpofacial syndrome, which Mondo defines as: “Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.” It reaches 5 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 6 species entries marked as a defect.

  2. Human disease

    Reached

    6 Mondo diseases.

  3. Human gene

    Stopped here

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

  4. Target evidence

    Not reached

    The chain stopped before this step.

  5. 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.

cardiospondylocarpofacial 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 6 naturally occurring species entries marked as a defect 10.0 of 10
Klippel-Feil syndrome 1, autosomal dominant

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 6 naturally occurring species entries marked as a defect 10.0 of 10
Klippel-Feil syndrome 2, autosomal recessive

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 6 naturally occurring species entries marked as a defect 10.0 of 10
posterior fusion of lumbosacral vertebrae-blepharoptosis 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 6 naturally occurring species entries marked as a defect 10.0 of 10
spondylocarpotarsal synostosis 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 6 naturally occurring species entries marked as a defect 10.0 of 10
spondylocostal dysostosis 1, autosomal recessive

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 6 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:001046-9615 Yes
domestic cat Felis catus OMIA:001046-9685 Yes
horse Equus caballus OMIA:001046-9796 Yes
koala Phascolarctos cinereus OMIA:001046-38626 Yes
pig Sus scrofa OMIA:001046-9823 Yes
sheep Ovis aries OMIA:001046-9940 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
dog No gene OMIA records no gene for this species entry.
domestic cat No gene OMIA records no gene for this species entry.
horse No gene OMIA records no gene for this species entry.
koala No gene OMIA records no gene for this species entry.
pig No gene OMIA records no gene for this species entry.
sheep 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.

Mondo disease Name Found by
MONDO:0008005 cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. OMIA's OMIM numbers
MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene. OMIA's OMIM numbers
MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. OMIA's OMIM numbers
MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. OMIA's OMIM numbers
MONDO:0010094 spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. OMIA's OMIM numbers
MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive 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.