OMIA group 162

Cardiomyopathy, dilated

The chain reaches the human disease arrhythmogenic right ventricular dysplasia 1, which Mondo defines as: “Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.” It reaches 6 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 11 species entries marked as a defect.
Human disease

Reached

7 Mondo diseases.
Human gene

Reached

2 human genes.
Target evidence

Reached

6 Open Targets associations, with a best score of 0.07.
Drugs

Reached

1 ChEMBL drug, 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.

Barth syndrome

53.6 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.03	1.1 of 35
Drugs	A drug has reached phase 2/3 for this disease	17.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	11 naturally occurring species entries marked as a defect	10.0 of 10

dilated cardiomyopathy 1A

40.1 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.07	2.6 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	11 naturally occurring species entries marked as a defect	10.0 of 10

arrhythmogenic right ventricular dysplasia 1

40.0 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.07	2.5 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	11 naturally occurring species entries marked as a defect	10.0 of 10

dilated cardiomyopathy 2A

39.1 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.05	1.6 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	11 naturally occurring species entries marked as a defect	10.0 of 10

dilated cardiomyopathy 3B

39.0 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.04	1.5 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	11 naturally occurring species entries marked as a defect	10.0 of 10

dilated cardiomyopathy 1B

37.5 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	11 naturally occurring species entries marked as a defect	10.0 of 10

dilated cardiomyopathy 1D

37.5 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	11 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
black-pencilled marmoset	Callithrix penicillata	OMIA:000162-57378	Yes
dog	Canis lupus familiaris	OMIA:000162-9615	Yes
domestic cat	Felis catus	OMIA:000162-9685	Yes
domestic cattle	Bos taurus	OMIA:000162-9913	Yes
golden hamster	Mesocricetus auratus	OMIA:000162-10036	Yes
meerkat	Suricata suricatta	OMIA:000162-37032	Yes
pig	Sus scrofa	OMIA:000162-9823	Yes
rabbit	Oryctolagus cuniculus	OMIA:000162-9986	Yes
sea otter	Enhydra lutris	OMIA:000162-34882	Yes
tufted capuchin	Sapajus apella	OMIA:000162-9515	Yes
turkey	Meleagris gallopavo	OMIA:000162-9103	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
black-pencilled marmoset	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	OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) NCBI Gene 523579	OPA3 Ensembl	one to one
golden hamster	SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) NCBI Gene 101837953	Ensembl does not know this NCBI Gene identifier.
meerkat	No gene	OMIA records no gene for this species entry.
pig	No gene	OMIA records no gene for this species entry.
rabbit	No gene	OMIA records no gene for this species entry.
sea otter	No gene	OMIA records no gene for this species entry.
tufted capuchin	No gene	OMIA records no gene for this species entry.
turkey	TNNT2 troponin T type 2 (cardiac) NCBI Gene 100303665	TNNT2 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.

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:0007152	arrhythmogenic right ventricular dysplasia 1 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.	OMIA's OMIM numbers
MONDO:0010543	Barth syndrome Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.	OMIA's OMIM numbers
MONDO:0007269	dilated cardiomyopathy 1A Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	OMIA's OMIM numbers
MONDO:0010951	dilated cardiomyopathy 1B A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.	OMIA's OMIM numbers
MONDO:0011095	dilated cardiomyopathy 1D Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	OMIA's OMIM numbers
MONDO:0012746	dilated cardiomyopathy 2A A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.	OMIA's OMIM numbers
MONDO:0010542	dilated cardiomyopathy 3B Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.	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
TNNT2	dilated cardiomyopathy 1A	0.07	4	Animal model 0.60
TNNT2	arrhythmogenic right ventricular dysplasia 1	0.07	3	Animal model 0.60
TNNT2	dilated cardiomyopathy 2A	0.05	1	Animal model 0.37
TNNT2	dilated cardiomyopathy 3B	0.04	1	Animal model 0.35
TNNT2	Barth syndrome	0.03	3	Animal model 0.26 Literature 0.02
OPA3	Barth syndrome	0.00	4	Literature 0.04

Drugs

Drugs act on TNNT2, but none has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Levosimendan	TNNT2	positive modulator	Approved	No

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