U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Impaired collagen-induced platelet aggregation

MedGen UID:
870264
Concept ID:
C4024703
Finding
HPO: HP:0008320

Definition

Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Impaired collagen-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.
Gray platelet syndrome
MedGen UID:
82900
Concept ID:
C0272302
Disease or Syndrome
The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007). Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).
Wolfram syndrome 2
MedGen UID:
347604
Concept ID:
C1858028
Disease or Syndrome
Wolfram syndrome-2 (WFS2) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014). For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (222300).
Platelet-type bleeding disorder 17
MedGen UID:
396078
Concept ID:
C1861194
Disease or Syndrome
Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).
Platelet signal processing defect
MedGen UID:
357448
Concept ID:
C1868199
Disease or Syndrome
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).
Platelet-type bleeding disorder 11
MedGen UID:
481750
Concept ID:
C3280120
Disease or Syndrome
Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).
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.
Bleeding disorder, platelet-type, 22
MedGen UID:
1673822
Concept ID:
C5193111
Disease or Syndrome
Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018).
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.
Hermansky-Pudlak syndrome 11
MedGen UID:
1727728
Concept ID:
C5436936
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.
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.
Immunodeficiency 81
MedGen UID:
1788669
Concept ID:
C5543540
Disease or Syndrome
Immunodeficiency-81 (IMD81) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. The phenotype is highly variable and may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease. Immunologic workup shows immune dysregulation with abnormalities affecting multiple immune cell lineages, including T cells, B cells, NK cells, and neutrophils, which may be decreased or increased and demonstrate functional deficits. There is a wide range of hematologic abnormalities. Affected individuals may be susceptible to severe EBV infection. The disorder is caused by a defect in intracellular immune signaling pathways (summary by Lev et al., 2021; Edwards et al., 2023).
Bleeding disorder, platelet-type, 25
MedGen UID:
1846290
Concept ID:
C5882683
Disease or Syndrome
Platelet-type bleeding disorder-25 (BDPLT25) is an autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Some individuals have decreased numbers of enlarged platelets or macrothrombocytopenia, whereas others have normal numbers of enlarged platelets. Platelet morphologic and functional defects are variable (Pleines et al., 2017; Stapley et al., 2022; Marin-Quilez et al., 2022). For a discussion of genetic heterogeneity of BDPLT, see 231200.

Professional guidelines

PubMed

Eckart F, Tauer JT, Suttorp M, Knöfler R
Hamostaseologie 2023 Jun;43(3):179-187. Epub 2023 Jan 24 doi: 10.1055/a-1892-0074. PMID: 36693407

Recent clinical studies

Etiology

Mezei G, Batár P, Kozma L, Illés Á, Kappelmayer J, Debreceni IB
Anticancer Res 2021 Oct;41(10):4867-4874. doi: 10.21873/anticanres.15300. PMID: 34593434

Diagnosis

Dromigny A, Triadou P, Lesavre P, Morel-Kopp MC, Kaplan C
Hematol Cell Ther 1996 Aug;38(4):355-7. doi: 10.1007/s00282-996-0355-7. PMID: 8891728

Therapy

Mezei G, Batár P, Kozma L, Illés Á, Kappelmayer J, Debreceni IB
Anticancer Res 2021 Oct;41(10):4867-4874. doi: 10.21873/anticanres.15300. PMID: 34593434

Prognosis

Mezei G, Batár P, Kozma L, Illés Á, Kappelmayer J, Debreceni IB
Anticancer Res 2021 Oct;41(10):4867-4874. doi: 10.21873/anticanres.15300. PMID: 34593434

Clinical prediction guides

Mezei G, Batár P, Kozma L, Illés Á, Kappelmayer J, Debreceni IB
Anticancer Res 2021 Oct;41(10):4867-4874. doi: 10.21873/anticanres.15300. PMID: 34593434
Dromigny A, Triadou P, Lesavre P, Morel-Kopp MC, Kaplan C
Hematol Cell Ther 1996 Aug;38(4):355-7. doi: 10.1007/s00282-996-0355-7. PMID: 8891728

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...