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Condition report · Hematological

Inherited Platelet Function Disorders

Inherited conditions in which platelets, the blood cells that help form clots, do not work properly, causing easy bruising, nosebleeds and heavy or prolonged bleeding. Platelet counts are often normal or only mildly reduced.

A condition report looks for rare variants known to cause the conditions it covers.

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Co vaše zpráva obsahuje

Všech 6 onemocnění, která analyzujeme

Glanzmann Thrombasthenia

Autozomálně recesivní

A recessive disorder caused by changes in ITGA2B or ITGB3, in which platelets cannot clump together, causing lifelong bleeding from the skin, nose, gums and, in women, heavy periods.

Co se diagnózou změní

Knowing about it helps avoid antiplatelet medicines, guides the choice of platelet transfusion or recombinant factor VIIa, and prompts planning in pregnancy because antibodies against platelets can affect the baby.

Analyzované geny

Zahrnuje 2 příbuzných podtypů ↓
  • Glanzmann thrombasthenia 1
  • Glanzmann thrombasthenia 2
MONDO:0100326Orphanet 849MedGen 52736

Bernard-Soulier Syndrome

Autozomálně recesivní

A disorder caused by changes in GP1BA, GP1BB or GP9, in which platelets are large, reduced in number and cannot stick to damaged blood vessels; it is usually recessive, though milder dominant forms exist.

Co se diagnózou změní

A correct diagnosis avoids it being mistaken for immune thrombocytopenia and treated unnecessarily.

Analyzované geny

Známé také jako

BSS; deficiency of platelet glycoprotein 1b; giant platelet disease; giant platelet disorder, isolated; giant platelet syndrome; Hemorrhagiparous thrombocytic dystrophy; macrothrombocytopenia, familial Bernard-Soulier type; Platelet glycoprotein 1b, deficiency of

Zahrnuje 4 příbuzných podtypů ↓
  • Bernard-Soulier syndrome, type A2, autosomal dominant
  • GP1BA-related Bernard-Soulier syndrome
  • GP1BB-related Bernard-Soulier syndrome
  • GP9-related Bernard-Soulier syndrome
MONDO:0009276OMIM 231200Orphanet 274MedGen 2212

Gray Platelet Syndrome

Autozomálně recesivní

A recessive disorder caused by changes in NBEAL2, in which platelets lack their storage granules, leading to large platelets, low platelet counts, bleeding and, over time, scarring of the bone marrow and an enlarged spleen.

Co se diagnózou změní

Knowing about it prompts monitoring for bone marrow scarring and avoidance of medicines that affect platelet function.

Analyzované geny

Známé také jako

Alpha storage pool deficiency; BDPLT4; GPS; marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins; platelet alpha-granule deficiency

MONDO:0007686OMIM 139090Orphanet 721MedGen 82900

P2RY12-Related Platelet Disorder (Platelet-Type Bleeding Disorder 8)

Autozomálně recesivní

A recessive disorder of the platelet ADP receptor encoded by P2RY12, causing mild to moderate bleeding.

Co se diagnózou změní

Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Analyzované geny

Známé také jako

BDPLT8; bleeding disorder, platelet-type 8; P2RY12-related platelet disorder, autosomal recessive

MONDO:0012354OMIM 609821Orphanet 36355MedGen 344008

RASGRP2-Related Platelet Disorder (Platelet-Type Bleeding Disorder 18)

Autozomálně recesivní

A recessive disorder caused by changes in RASGRP2 that impairs platelet activation, causing bleeding from the gums and nose and after injury.

Co se diagnózou změní

Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Analyzované geny

Známé také jako

BDPLT18; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency; bleeding disorder due to CalDAG-GEFI deficiency; inherited bleeding disorder, platelet-type caused by mutation in RASGRP2; RASGRP2 inherited bleeding disorder, platelet-type; RASGRP2-related platelet disorder

MONDO:0014386OMIM 615888Orphanet 420566MedGen 863021

GP6-Related Platelet Disorder (Platelet-Type Bleeding Disorder 11)

Autozomálně recesivní

A recessive disorder of the platelet collagen receptor glycoprotein VI, encoded by GP6, usually causing mild bleeding.

Co se diagnózou změní

Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Analyzované geny

Známé také jako

BDPLT11; GP6 inherited bleeding disorder, platelet-type; GP6-related platelet disorder; inherited bleeding disorder, platelet-type caused by mutation in GP6; platelet-type bleeding disorder-11

MONDO:0013623OMIM 614201Orphanet 98885MedGen 481750

Omezení

  • GP1BB, one of the Bernard-Soulier genes, lies in the 22q11.2 region. Some people have a deletion of this region on one copy and a variant on the other; deletions need copy-number analysis and may be missed.

Další hematological conditions

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