BLEEDING DISORDER, PLATELET-TYPE, 15

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT15
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615193
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis rare [HPO:skoehler] 85 / 7739
2
(HPO:0011273) Anisocytosis 8 / 7739
3
(HPO:0011877) Increased mean platelet volume 9 / 7739
4
(HPO:0001873) Thrombocytopenia 224 / 7739
5
(OMIM) Normal platelet function 4 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Kunishima et al. (2013) reported 11 individuals from 6 unrelated Japanese families with congenital macrothrombocytopenia. Affected individuals had about half-normal platelet counts and a 30% increase in platelet size. Peripheral blood smear showed anisocytosis. Electron microscopy showed no ...
Molecular genetics OMIM In affected members of 6 unrelated Japanese families with autosomal dominant platelet-type bleeding disorder-15, Kunishima et al. (2013) identified 6 different heterozygous missense mutations in the ACTN1 gene (102575.0001-102575.0006). Three of the mutations were identified by exome sequencing. ...