Bleeding disorder, platelet-type, 15

Preferred Label : Bleeding disorder, platelet-type, 15;

Symbol : BDPLT15;

CISMeF acronym : BDPLT15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrothrombocytopenia, autosomal dominant, actn1-related;

Description : Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 actinin gene (ACTN1, 102565.0001);

Prefixed ID : #615193;

Details

Origin ID

615193;

UMLS CUI

C3554663;

Currated CISMeF NLP mapping
- platelet-type bleeding disorder 15 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 15 [DO Concept]
Genes related to phenotype
- Actinin, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epistaxis [HPO term]
- Increased mean platelet volume [HPO term]
- Platelet anisocytosis [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Abnormal platelet function [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
ORDO concept(s)
- Autosomal dominant macrothrombocytopenia [ORDO Disease]
See also inter- (CISMeF)
- ACTN1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- platelet-type bleeding disorder 15 [DO Concept]

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