Comparative

OMIA group 2618

Nephropathy, COL4A4 related

The chain reaches the human disease autosomal recessive Alport syndrome, which Mondo defines as: “Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.” It reaches 1 more human disease, 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 1 species entry marked as a defect.

  2. Human disease

    Reached

    2 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.81.

  5. Drugs

    Reached

    3 ChEMBL drugs, 2 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.

autosomal recessive Alport syndrome

64.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.81 28.4 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 Both routes found this disease 10.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
hematuria, benign familial, 1

59.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.79 27.5 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
dog Canis lupus familiaris OMIA:002618-9615 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 COL4A4 collagen, type IV, alpha 4 NCBI Gene 403841 COL4A4 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.

The two routes found some of the same diseases, but not all.

Mondo disease Name Found by
MONDO:0008762 autosomal recessive Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. Both routes
MONDO:0007709 hematuria, benign familial, 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.

Human gene Human disease Score Evidence Kinds of evidence
COL4A4 autosomal recessive Alport syndrome 0.81 1,158 Genetic association 0.90 Genetic literature 0.80 Animal model 0.56 Literature 0.15
COL4A4 hematuria, benign familial, 1 0.79 565 Genetic association 0.93 Genetic literature 0.78 Animal model 0.57 Literature 0.05

Drugs

Drugs act on COL4A4, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Collagenase Clostridium Histolyticum COL4A4 hydrolytic enzyme Approved No
Ocriplasmin COL4A4 hydrolytic enzyme Approved No
Trc-093 COL4A4 inhibitor Phase 1 No

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