Comparative

OMIA group 1001

Thrombocytopenia

The chain reaches the human disease autoimmune thrombocytopenic purpura, which Mondo defines as: “An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.” It reaches 9 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

    10 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.

autoimmune thrombocytopenic purpura

40.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached approved for this disease 25.0 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
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

30.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached phase 2 for this disease 15.0 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
thrombocytopenia 1

30.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached phase 2 for this disease 15.0 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
Kasabach-Merritt 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
macrothrombocytopenia, isolated, 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
Paris-Trousseau thrombocytopenia

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
thrombocytopenia 2

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
thrombocytopenia 3

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
thrombocytopenia-absent radius 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
thrombocytopenia, cyclic

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
crab-eating macaque Macaca fascicularis OMIA:001001-9541 Yes
dog Canis lupus familiaris OMIA:001001-9615 Yes
domestic cat Felis catus OMIA:001001-9685 Yes
domestic cattle Bos taurus OMIA:001001-9913 Yes
horse Equus caballus OMIA:001001-9796 Yes
pig Sus scrofa OMIA:001001-9823 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
crab-eating macaque 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 No gene OMIA records no gene for this species entry.
horse No gene OMIA records no gene for this species entry.
pig 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:0008558 autoimmune thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. OMIA's OMIM numbers
MONDO:0007708 Kasabach-Merritt syndrome Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. OMIA's OMIM numbers
MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. OMIA's OMIM numbers
MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene, characterized by mild to moderate thrombocytopenia with large platelets and normal or near-normal bleeding symptoms. Structural studies in patient platelets show disorganized or reduced beta1-tubulin staining and abnormal marginal microtubule bands, impairing proplatelet formation and leading to fewer, larger circulating platelets. Functional platelet assays in affected individuals typically show qualitatively normal aggregation, with the clinical phenotype driven primarily by reduced platelet number rather than intrinsic platelet-function defects. OMIA's OMIM numbers
MONDO:0008557 Paris-Trousseau thrombocytopenia Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. OMIA's OMIM numbers
MONDO:0010743 thrombocytopenia 1 OMIA's OMIM numbers
MONDO:0008555 thrombocytopenia 2 An autosomal dominant thrombocytopenia caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability, mild to moderate reductions in platelet count, platelets that are generally normal in size, and a mild mucocutaneous bleeding tendency. Individuals show normal platelet ultrastructure and typically have no associated syndromic abnormalities, but megakaryocyte maturation is abnormal, reflecting dysregulated thrombopoiesis. Pathogenic variants occur exclusively in the 5' untranslated region (5'UTR) of ANKRD26, and variants cause gain-of-function overexpression during megakaryopoiesis, disrupting normal signaling and impairing proplatelet formation. OMIA's OMIM numbers
MONDO:0010120 thrombocytopenia 3 An inherited thrombocytopenia caused by a variation in the FYB1 gene, characterized by small-platelet thrombocytopenia beginning in infancy, with variable mucocutaneous bleeding including petechiae, epistaxis, and heavy menstrual bleeding. Platelet studies in affected individuals reveal reduced pseudopodia formation, impaired integrin activation, increased basal P-selectin and PAC-1 expression, and reduced ability to upregulate activation markers following ADP stimulation. Megakaryocyte abnormalities, including reduced numbers of mature multilobulated megakaryocytes and impaired proplatelet development, reflect a defect in cytoskeletal organization linked to the loss of FYB1's adaptor function in integrin-mediated signaling. OMIA's OMIM numbers
MONDO:0010121 thrombocytopenia-absent radius syndrome Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. OMIA's OMIM numbers
MONDO:0008556 thrombocytopenia, cyclic 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.