Phenotype: thrombocytopenia

Definition fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation

Synonyms
  • reduced platelet count
  • reduced platelet count
  • thrombopenia
  • thrombopenia
  • decreased thrombocyte number
  • decreased platelet cell number
  • decreased platelet count
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Related
Synonyms
  • Autoimmune thrombocytopenia
  • Autoimmune thrombocytopenia
  • absent platelets
  • absent platelets
  • Post-transfusion thrombocytopenia
  • Macrothrombocytopenia
  • pancytopenia
  • Pancytopenia
  • Intermittent thrombocytopenia
  • Heparin-induced thrombocytopenia
  • Congenital thrombocytopenia
  • Amegakaryocytic thrombocytopenia
  • Neonatal alloimmune thrombocytopenia
  • Aplastic anemia
  • Aplastic anemia
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MP browserMP:0003179

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Phenotype associations stats

1.78% of tested genes with null mutations on a B6N genetic background have a phenotype association to thrombocytopenia (66/3713)

1.25% females (46/3682) 1.73% males (64/3703)

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Gene variants with thrombocytopenia

Total number of significant genotype-phenotype associations: 115

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 4.44E-21
Crlf3
Crlf3em1(IMPC)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 1.64E-17
Lyn
Lyntm1b(EUCOMM)Hmgu
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 4.17E-16
Nbeal2
Nbeal2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 1.32E-14
Knstrn
Knstrntm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count ICS | IMPC 2.2E-13
Osm
Osmtm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 1.06E-12
Emc10
Emc10tm1b(EUCOMM)Wtsi
HOM Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 4.2E-12
Crlf3
Crlf3tm1a(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Haematology test | Platelets-count WTSI | MGP 6.54E-12
Lepr
Leprtm1b(EUCOMM)Wtsi
HOM Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 1.94E-11
Crlf3
Crlf3tm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 4.82E-11
Txnip
Txniptm1b(EUCOMM)Hmgu
HOM Female postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 5.26E-11
Fbxo11
Fbxo11Jf
HET Female Male postnatal thrombocytopenia Haematology | Platelets count MRC Harwell | EuroPhenome 8.24E-11
Sept5
Sept5tm1b(EUCOMM)Hmgu
HET Female Male postnatal thrombocytopenia Hematology | Platelet count RBRC | IMPC 9.54E-11
Fbxo36
Fbxo36tm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MARC | IMPC 8.58E-10
Gp1bb
Gp1bbtm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count UC Davis | IMPC 9.46E-10
Ghrhr
Ghrhrtm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 2.46E-9
Sgms1
Sgms1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 6.49E-9
Bcl3
Bcl3tm1b(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 1.33E-8
Elmod1
Elmod1tm1a(EUCOMM)Hmgu
HOM Female Male postnatal thrombocytopenia Haematology | Platelets count MRC Harwell | EuroPhenome 1.43E-8
Pld3
Pld3tm1e(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 1.52E-8
Tbc1d22a
Tbc1d22atm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 4.36E-8
Exosc8
Exosc8tm1.1(KOMP)Vlcg
HET Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 6.93E-8
Bbs5
Bbs5tm1b(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 1.46E-7
Usp38
Usp38tm1b(EUCOMM)Hmgu
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 1.57E-7
Arrb1
Arrb1tm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 1.59E-7
Mllt3
Mllt3tm1b(EUCOMM)Hmgu
HET Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 7.47E-7
Aspm
Aspmtm1a(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 9.53E-7
Ephx1
Ephx1
HOM Male postnatal thrombocytopenia Haematology | Platelets count ICS | EuroPhenome 1.23E-6
Acsl4
Acsl4tm1a(EUCOMM)Wtsi
HEM Male postnatal thrombocytopenia Haematology test | Platelets-count WTSI | MGP 1.39E-6
Tmem79
Tmem79tm1.1(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 1.41E-6
Acsl4
Acsl4tm1a(EUCOMM)Wtsi
HET Female postnatal thrombocytopenia Haematology test | Platelets-count WTSI | MGP 1.64E-6
Gatm
Gatmtm1b(KOMP)Wtsi
HOM Male postnatal thrombocytopenia Hematology | Platelet count HMGU | IMPC 1.82E-6
Ppp1r9b
Ppp1r9btm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 2.13E-6
Gp9
Gp9tm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count UC Davis | IMPC 2.55E-6
Hsf2bp
Hsf2bptm1a(EUCOMM)Hmgu
HET Male postnatal thrombocytopenia Haematology | Platelets count HMGU | EuroPhenome 3.17E-6
Smurf2
Smurf2tm1b(EUCOMM)Wtsi
HET Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 3.32E-6
Clpp
Clpptm1a(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 3.78E-6
Setdb2
Setdb2tm1a(KOMP)Wtsi
HOM Male postnatal thrombocytopenia Haematology | Platelets count HMGU | EuroPhenome 4.57E-6
Cfi
Cfitm1b(EUCOMM)Hmgu
HOM Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 4.72E-6
Dffb
Dffbem1(IMPC)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 4.98E-6
Htr1b
Htr1btm1.1(KOMP)Vlcg
HET Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 8.0E-6
Elmod1
Elmod1tm1b(EUCOMM)Hmgu
HOM Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 9.61E-6
Tubb2a
Tubb2aem1(IMPC)J
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 9.63E-6
Ikzf3
Ikzf3tm1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count RBRC | IMPC 9.64E-6
Lsm14a
Lsm14atm1b(KOMP)Wtsi
HET Male postnatal thrombocytopenia Hematology | Platelet count MARC | IMPC 1.23E-5
Tmem203
Tmem203em1(IMPC)H
HOM Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 1.33E-5
Lamc3
Lamc3tm1a(KOMP)Wtsi
HOM Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 1.56E-5
Epc2
Epc2tm1a(EUCOMM)Wtsi
HOM Male postnatal thrombocytopenia Haematology | Platelets count HMGU | EuroPhenome 1.59E-5
Dennd2d
Dennd2dtm2b(KOMP)Mbp
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 1.73E-5
Cyp3a59
Cyp3a59em1(IMPC)Marc
HET Female Male postnatal thrombocytopenia Hematology | Platelet count MARC | IMPC 1.82E-5
Trmt1l
Trmt1lGt(W027A02)Wrst
HOM Male postnatal thrombocytopenia Haematology (GMC) | Platelet HMGU | EuroPhenome 2.01E-5
Psph
Psphtm1.1(KOMP)Vlcg
HET Male postnatal thrombocytopenia Hematology | Platelet count TCP | IMPC 2.51E-5
Rwdd1
Rwdd1tm1b(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 2.53E-5
Sik3
Sik3tm1a(EUCOMM)Hmgu
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 3.03E-5
Ppp2r2b
Ppp2r2btm1a(KOMP)Wtsi
HOM Female Male postnatal thrombocytopenia Haematology test | Platelets-count WTSI | EuroPhenome 3.67E-5
Rab11a
Rab11atm1b(KOMP)Wtsi
HET Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 4.26E-5
Tfap4
Tfap4tm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count UC Davis | IMPC 4.4E-5
Mta1
Mta1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Haematology | Platelets count WTSI | EuroPhenome 4.97E-5
Phtf2
Phtf2tm1a(EUCOMM)Wtsi
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 5.14E-5
Arrdc1
Arrdc1tm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 5.33E-5
Cidec
Cidectm1a(EUCOMM)Wtsi
HOM Male postnatal thrombocytopenia Haematology | Platelets count HMGU | EuroPhenome 7.48E-5
Kcnh3
Kcnh3tm1.1(KOMP)Vlcg
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 8.35E-5
Baiap2
Baiap2tm1b(KOMP)Wtsi
HET Male postnatal thrombocytopenia Hematology | Platelet count UC Davis | IMPC 8.44E-5
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Male postnatal thrombocytopenia Hematology | Platelet count WTSI | IMPC 8.46E-5
Rasgrf1
Rasgrf1tm1bNarl
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MRC Harwell | IMPC 8.54E-5
Usp42
Usp42tm2a(EUCOMM)Wtsi
HOM Male postnatal thrombocytopenia Haematology test | Platelets-count WTSI | EuroPhenome 8.69E-5
Cadm1
Cadm1tm1.2Brd
HOM Female Male postnatal thrombocytopenia Haematology | Platelets count WTSI | EuroPhenome 9.45E-5
Arrb2
Arrb2tm1.1(KOMP)Vlcg
HOM Female postnatal thrombocytopenia Hematology | Platelet count JAX | IMPC 9.49E-5
Fntb
Fntbtm1b(EUCOMM)Hmgu
HET Female Male postnatal thrombocytopenia Hematology | Platelet count MARC | IMPC 9.75E-5
Atg4b
Atg4bem1(IMPC)Marc
HOM Female Male postnatal thrombocytopenia Hematology | Platelet count MARC | IMPC 9.97E-5

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