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Thrombocytopenia 5(THC5)

MedGen UID:
863974
•Concept ID:
C4015537
•
Disease or Syndrome
Synonyms: THC5; THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5
 
Gene (location): ETV6 (12p13.2)
 
Monarch Initiative: MONDO:0014536
OMIM®: 616216

Disease characteristics

Excerpted from the GeneReview: ETV6 Thrombocytopenia and Predisposition to Leukemia
Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected individuals also have a moderate risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other malignant solid tumors, particularly colorectal cancer. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Christopher C Porter  |  Jorge Di Paola  |  Bojana Pencheva   view full author information

Additional description

From OMIM
Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by Zhang et al., 2015). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.  http://www.omim.org/entry/616216

Clinical features

From HPO
Precursor B-cell acute lymphoblastic leukemia
MedGen UID:
83896
•Concept ID:
C0349636
•
Neoplastic Process
A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
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Epistaxis
MedGen UID:
4996
•Concept ID:
C0014591
•
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Increased mean corpuscular volume
MedGen UID:
81303
•Concept ID:
C0302845
•
Finding
Larger than normal size of erythrocytes.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature
Petechiae
MedGen UID:
10680
•Concept ID:
C0031256
•
Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
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Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
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Diagnosis

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