Bleeding disorder, platelet-type, 17

Preferred Label : Bleeding disorder, platelet-type, 17;

Symbol : BDPLT17;

CISMeF acronym : BDPLT17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombasthenia-thrombocytopenia, hereditary;

Description : 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). For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (231200).;

Inheritance : Autosomal recessive (in 1 patient); Autosomal dominant;

Molecular basis : Caused by mutation in the growth factor-independent 1B gene (GFI1B, 604383.0001);

Prefixed ID : #187900;

Details

Origin ID

187900;

UMLS CUI

C1861194;

Currated CISMeF NLP mapping
- Bleeding Disorder, Platelet-Type 17 [NCIt concept]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH concept]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH Supplementary Concept]
- platelet-type bleeding disorder 17 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 17 [DO Concept]
Genes related to phenotype
- Growth factor-independent 1b [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of thrombocytes [HPO term]
- Absence of alpha granules [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Infantile onset [HPO term]
- Myelofibrosis [HPO term]
- Petechiae [HPO term]
- Poor prothrombin consumption [HPO term]
- Prolonged bleeding time [HPO term]
- Reduced prothrombin consumption [HPO term]
- Thrombasthenia [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Gray platelet syndrome [ORDO Disease]
See also inter- (CISMeF)
- Gray platelet syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bleeding Disorder, Platelet-Type 17 [NCIt concept]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH Supplementary Concept]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH concept]

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