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Platelet-type bleeding disorder 15(BDPLT15)

MedGen UID:
767577
Concept ID:
C3554663
Disease or Syndrome
Synonyms: BDPLT15; MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
 
Gene (location): ACTN1 (14q24.1)
 
Monarch Initiative: MONDO:0014078
OMIM®: 615193

Definition

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). [from OMIM]

Clinical features

From HPO
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Increased mean platelet volume
MedGen UID:
853131
Concept ID:
C1096367
Finding
Average platelet volume above the upper limit of the normal reference interval.
Platelet anisocytosis
MedGen UID:
810926
Concept ID:
C1739105
Pathologic Function
Abnormally increased variability in the size of platelets.
Impaired ADP-induced platelet aggregation
MedGen UID:
870824
Concept ID:
C4025282
Finding
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
Impaired clot retraction
MedGen UID:
1376447
Concept ID:
C4476985
Finding
Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.

Recent clinical studies

Diagnosis

Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603
Maurer M, Mesters R, Schneppenheim R, Knoefler R, Streif W
Klin Padiatr 2015 May;227(3):131-6. Epub 2015 May 18 doi: 10.1055/s-0035-1548838. PMID: 25985448
Othman M
Semin Thromb Hemost 2011 Jul;37(5):464-9. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281030. PMID: 22102188
Hamilton A, Ozelo M, Leggo J, Notley C, Brown H, Frontroth JP, Angelillo-Scherrer A, Baghaei F, Enayat SM, Favaloro E, Lillicrap D, Othman M
Thromb Haemost 2011 Mar;105(3):501-8. Epub 2011 Feb 8 doi: 10.1160/TH10-08-0523. PMID: 21301777
Aihara M, Sawada Y, Ueno K, Morimoto S, Yoshida Y, de Serres M, Cooper HA, Wagner RH
Thromb Haemost 1986 Apr 30;55(2):263-7. PMID: 3087003

Prognosis

Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603

Clinical prediction guides

Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603
Aihara M, Sawada Y, Ueno K, Morimoto S, Yoshida Y, de Serres M, Cooper HA, Wagner RH
Thromb Haemost 1986 Apr 30;55(2):263-7. PMID: 3087003

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