U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Impaired ADP-induced platelet aggregation

MedGen UID:
870824
Concept ID:
C4025282
Finding
HPO: HP:0004866

Definition

Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired ADP-induced platelet aggregation

Conditions with this feature

Glanzmann thrombasthenia
MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.
Hermansky-Pudlak syndrome 2
MedGen UID:
374912
Concept ID:
C1842362
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Platelet-type bleeding disorder 8
MedGen UID:
344008
Concept ID:
C1853278
Disease or Syndrome
Platelet-type bleeding disorder-8 (BDPLT8) is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011).
Platelet signal processing defect
MedGen UID:
357448
Concept ID:
C1868199
Disease or Syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
MedGen UID:
478706
Concept ID:
C3277076
Disease or Syndrome
Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001). Genetic Heterogeneity of Bernard-Soulier Syndrome Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200).
Thrombocythemia 1
MedGen UID:
479301
Concept ID:
C3277671
Disease or Syndrome
Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). Genetic Heterogeneity of Thrombocythemia THCYT2 (601977) is caused by germline or somatic mutation in the THPO receptor gene (MPL; 159530) on chromosome 1p34, and THCYT3 (614521) is caused by germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p. Somatic mutations in the TET2 (612839), ASXL1 (612990), SH2B3 (605093), and SF3B1 (605590) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (109091) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013).
Hermansky-Pudlak syndrome 5
MedGen UID:
854711
Concept ID:
C3888004
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Hermansky-Pudlak syndrome 6
MedGen UID:
854714
Concept ID:
C3888007
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Platelet-type bleeding disorder 18
MedGen UID:
863021
Concept ID:
C4014584
Disease or Syndrome
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Bleeding disorder, platelet-type, 21
MedGen UID:
1386863
Concept ID:
C4479515
Disease or Syndrome
BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017).
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MedGen UID:
1704278
Concept ID:
C5200934
Disease or Syndrome
MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.
Thrombocytopenia 7
MedGen UID:
1768257
Concept ID:
C5436874
Disease or Syndrome
Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.
Glanzmann thrombasthenia 2
MedGen UID:
1782592
Concept ID:
C5543273
Disease or Syndrome
Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.
Bleeding disorder, platelet-type, 24
MedGen UID:
1785711
Concept ID:
C5543280
Disease or Syndrome
Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.

Professional guidelines

PubMed

Li J, Dai G, Feng Z, Wang C, Yang Y, Wei W, Zhou B
J Tongji Med Univ 1998;18(2):87-9, 93. doi: 10.1007/BF02888473. PMID: 10806831

Recent clinical studies

Etiology

Zanetto A, Campello E, Senzolo M, Simioni P
Hepatology 2024 Feb 1;79(2):460-481. Epub 2023 Feb 27 doi: 10.1097/HEP.0000000000000349. PMID: 36825598
Brambilla M, Becchetti A, Rovati GE, Cosentino N, Conti M, Canzano P, Giesen PLA, Loffreda A, Bonomi A, Cattaneo M, De Candia E, Podda GM, Trabattoni D, Werba PJ, Campodonico J, Pinna C, Marenzi G, Tremoli E, Camera M
Arterioscler Thromb Vasc Biol 2023 Oct;43(10):2042-2057. Epub 2023 Aug 17 doi: 10.1161/ATVBAHA.123.319099. PMID: 37589138Free PMC Article
Misan N, Burchardt B, Korszun P, Kapska K, Kapska J, Kawka-Paciorkowska K, Ropacka-Lesiak M
Ginekol Pol 2022;93(12):968-974. Epub 2022 Mar 24 doi: 10.5603/GP.a2022.0006. PMID: 35325455
Cangemi R, Carnevale R, Nocella C, Calvieri C, Cammisotto V, Novo M, Castellani V, D'Amico A, Zerbinati C, Stefanini L, Violi F; SIXTUS Study Group
Pharmacol Res 2018 May;131:66-74. Epub 2018 Mar 22 doi: 10.1016/j.phrs.2018.03.014. PMID: 29577968
Trovati M, Mularoni EM, Burzacca S, Ponziani MC, Massucco P, Mattiello L, Piretto V, Cavalot F, Anfossi G
Diabetes 1995 Nov;44(11):1318-22. doi: 10.2337/diab.44.11.1318. PMID: 7589830

Diagnosis

Brambilla M, Becchetti A, Rovati GE, Cosentino N, Conti M, Canzano P, Giesen PLA, Loffreda A, Bonomi A, Cattaneo M, De Candia E, Podda GM, Trabattoni D, Werba PJ, Campodonico J, Pinna C, Marenzi G, Tremoli E, Camera M
Arterioscler Thromb Vasc Biol 2023 Oct;43(10):2042-2057. Epub 2023 Aug 17 doi: 10.1161/ATVBAHA.123.319099. PMID: 37589138Free PMC Article
Misan N, Burchardt B, Korszun P, Kapska K, Kapska J, Kawka-Paciorkowska K, Ropacka-Lesiak M
Ginekol Pol 2022;93(12):968-974. Epub 2022 Mar 24 doi: 10.5603/GP.a2022.0006. PMID: 35325455
Gawryś J, Wiśniewski J, Szahidewicz-Krupska E, Gajecki D, Leśniewska J, Majda F, Gawryś K, Fortuna P, Mlynarz P, Doroszko A
Oxid Med Cell Longev 2020;2020:6938629. Epub 2020 Sep 29 doi: 10.1155/2020/6938629. PMID: 33062144Free PMC Article
Schäfer A, Weinberger S, Flierl U, Eigenthaler M, Störk S, Walter U, Ertl G, Bauersachs J
Thromb Haemost 2008 Oct;100(4):618-25. PMID: 18841284
Trovati M, Mularoni EM, Burzacca S, Ponziani MC, Massucco P, Mattiello L, Piretto V, Cavalot F, Anfossi G
Diabetes 1995 Nov;44(11):1318-22. doi: 10.2337/diab.44.11.1318. PMID: 7589830

Therapy

Brambilla M, Becchetti A, Rovati GE, Cosentino N, Conti M, Canzano P, Giesen PLA, Loffreda A, Bonomi A, Cattaneo M, De Candia E, Podda GM, Trabattoni D, Werba PJ, Campodonico J, Pinna C, Marenzi G, Tremoli E, Camera M
Arterioscler Thromb Vasc Biol 2023 Oct;43(10):2042-2057. Epub 2023 Aug 17 doi: 10.1161/ATVBAHA.123.319099. PMID: 37589138Free PMC Article
Jiang LP, Ji JZ, Ge PX, Zhu T, Mi QY, Tai T, Li YF, Xie HG
Br J Pharmacol 2022 Jan;179(1):46-64. Epub 2021 Oct 29 doi: 10.1111/bph.15667. PMID: 34415054
Cangemi R, Carnevale R, Nocella C, Calvieri C, Cammisotto V, Novo M, Castellani V, D'Amico A, Zerbinati C, Stefanini L, Violi F; SIXTUS Study Group
Pharmacol Res 2018 May;131:66-74. Epub 2018 Mar 22 doi: 10.1016/j.phrs.2018.03.014. PMID: 29577968
Schäfer A, Weinberger S, Flierl U, Eigenthaler M, Störk S, Walter U, Ertl G, Bauersachs J
Thromb Haemost 2008 Oct;100(4):618-25. PMID: 18841284
Colwell JA, Nesto RW
Diabetes Care 2003 Jul;26(7):2181-8. doi: 10.2337/diacare.26.7.2181. PMID: 12832332

Prognosis

Zanetto A, Campello E, Senzolo M, Simioni P
Hepatology 2024 Feb 1;79(2):460-481. Epub 2023 Feb 27 doi: 10.1097/HEP.0000000000000349. PMID: 36825598
Bongiovanni D, Schreiner N, Gosetti R, Mayer K, Angiolillo DJ, Sibbing D, Holdenrieder S, Anetsberger A, von Scheidt M, Schunkert H, Laugwitz KL, Schüpke S, Kastrati A, Fegers-Wustrow I, Bernlochner I
Arterioscler Thromb Vasc Biol 2023 Feb;43(2):e83-e93. Epub 2022 Dec 22 doi: 10.1161/ATVBAHA.122.318614. PMID: 36546322
Jiang LP, Ji JZ, Ge PX, Zhu T, Mi QY, Tai T, Li YF, Xie HG
Br J Pharmacol 2022 Jan;179(1):46-64. Epub 2021 Oct 29 doi: 10.1111/bph.15667. PMID: 34415054
Cangemi R, Carnevale R, Nocella C, Calvieri C, Cammisotto V, Novo M, Castellani V, D'Amico A, Zerbinati C, Stefanini L, Violi F; SIXTUS Study Group
Pharmacol Res 2018 May;131:66-74. Epub 2018 Mar 22 doi: 10.1016/j.phrs.2018.03.014. PMID: 29577968
Schäfer A, Weinberger S, Flierl U, Eigenthaler M, Störk S, Walter U, Ertl G, Bauersachs J
Thromb Haemost 2008 Oct;100(4):618-25. PMID: 18841284

Clinical prediction guides

Zanetto A, Campello E, Senzolo M, Simioni P
Hepatology 2024 Feb 1;79(2):460-481. Epub 2023 Feb 27 doi: 10.1097/HEP.0000000000000349. PMID: 36825598
Jiang LP, Ji JZ, Ge PX, Zhu T, Mi QY, Tai T, Li YF, Xie HG
Br J Pharmacol 2022 Jan;179(1):46-64. Epub 2021 Oct 29 doi: 10.1111/bph.15667. PMID: 34415054
Gawryś J, Wiśniewski J, Szahidewicz-Krupska E, Gajecki D, Leśniewska J, Majda F, Gawryś K, Fortuna P, Mlynarz P, Doroszko A
Oxid Med Cell Longev 2020;2020:6938629. Epub 2020 Sep 29 doi: 10.1155/2020/6938629. PMID: 33062144Free PMC Article
Cangemi R, Carnevale R, Nocella C, Calvieri C, Cammisotto V, Novo M, Castellani V, D'Amico A, Zerbinati C, Stefanini L, Violi F; SIXTUS Study Group
Pharmacol Res 2018 May;131:66-74. Epub 2018 Mar 22 doi: 10.1016/j.phrs.2018.03.014. PMID: 29577968
Trovati M, Mularoni EM, Burzacca S, Ponziani MC, Massucco P, Mattiello L, Piretto V, Cavalot F, Anfossi G
Diabetes 1995 Nov;44(11):1318-22. doi: 10.2337/diab.44.11.1318. PMID: 7589830

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...