Comparative

OMIA group 319

Ears, folded (drop vs prick)

The chain reaches the human disease autosomal dominant brachyolmia, which Mondo defines as: “Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.” It reaches 10 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 1 species entry marked as a defect.

  2. Human disease

    Reached

    11 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    9 Open Targets associations, with a best score of 0.84.

  5. Drugs

    Reached

    2 ChEMBL drugs, 1 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.

metatropic dysplasia

60.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.84 29.2 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
spondylometaphyseal dysplasia, Kozlowski type

60.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.6 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
Charcot-Marie-Tooth disease axonal type 2C

59.6 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.80 28.1 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
neuronopathy, distal hereditary motor, autosomal dominant 8

57.6 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.75 26.1 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
familial digital arthropathy-brachydactyly

56.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.72 25.3 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
autosomal dominant brachyolmia

56.4 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.71 24.9 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
spondyloepimetaphyseal dysplasia, Maroteaux type

55.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.68 23.6 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
parastremmatic dwarfism

54.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.65 22.6 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
scapuloperoneal spinal muscular atrophy, autosomal dominant

50.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.53 18.5 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
autosomal recessive nonsyndromic hearing loss 74

31.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 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
avascular necrosis of femoral head, primary, 2

31.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 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:000319-9615 No, not counted
domestic cat Felis catus OMIA:000319-9685 Yes
pig Sus scrofa OMIA:000319-9823 No, not counted
sheep Ovis aries OMIA:000319-9940 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
domestic cat TRPV4 transient receptor potential cation channel, subfamily V, member 4 NCBI Gene 101084907 TRPV4 Ensembl one to one
dog Not a defect, not counted MSRB3 methionine sulfoxide reductase B3 NCBI Gene 608386 MSRB3 Ensembl one to one
pig Not a defect, not counted MSRB3 methionine sulfoxide reductase B3 NCBI Gene 100511693 MSRB3 Ensembl one to one
sheep Not a defect, not counted MSRB3 methionine sulfoxide reductase B3 NCBI Gene 101108734 MSRB3 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.

Mondo disease Name Found by
MONDO:0007232 autosomal dominant brachyolmia Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. OMIA's OMIM numbers
MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. OMIA's OMIM numbers
MONDO:0054551 avascular necrosis of femoral head, primary, 2 OMIA's OMIM numbers
MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. OMIA's OMIM numbers
MONDO:0011732 familial digital arthropathy-brachydactyly Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. OMIA's OMIM numbers
MONDO:0007986 metatropic dysplasia Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. OMIA's OMIM numbers
MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. OMIA's OMIM numbers
MONDO:0008196 parastremmatic dwarfism Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. OMIA's OMIM numbers
MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant OMIA's OMIM numbers
MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. OMIA's OMIM numbers
MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. 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
TRPV4 metatropic dysplasia 0.84 188 Genetic association 0.93 Genetic literature 0.80 Literature 0.13
TRPV4 spondylometaphyseal dysplasia, Kozlowski type 0.82 157 Genetic association 0.91 Genetic literature 0.77 Literature 0.11
TRPV4 Charcot-Marie-Tooth disease axonal type 2C 0.80 1,086 Genetic association 0.90 Genetic literature 0.78 Literature 0.21
TRPV4 neuronopathy, distal hereditary motor, autosomal dominant 8 0.75 140 Genetic association 0.84 Genetic literature 0.78
TRPV4 familial digital arthropathy-brachydactyly 0.72 28 Genetic association 0.81 Genetic literature 0.73 Literature 0.01
TRPV4 autosomal dominant brachyolmia 0.71 140 Genetic association 0.80 Genetic literature 0.73 Literature 0.08
TRPV4 spondyloepimetaphyseal dysplasia, Maroteaux type 0.68 27 Genetic association 0.80 Genetic literature 0.61 Literature 0.08
TRPV4 parastremmatic dwarfism 0.65 28 Genetic association 0.77 Genetic literature 0.61 Literature 0.12
TRPV4 scapuloperoneal spinal muscular atrophy, autosomal dominant 0.53 23 Genetic association 0.61 Genetic literature 0.61 Literature 0.20

Drugs

Drugs act on TRPV4, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Butamben TRPV4 inhibitor Approved No
Gsk2798745 TRPV4 antagonist Phase 2 No

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