Terminal 11q deletion with congenital heart disease and thrombocytopenia.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected, more common; Children: yes, birth
- Gene(s) involved
- ETS1, FLI1
- Alternative names & eponyms
- 11q deletion syndrome
Etiology & mechanism
Deletion of 11q23-qter including ETS1 and FLI1.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Jacobsen syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Dengue shock syndrome
bleeding, thrombocytopenia
2 shared
Kasabach–Merritt syndrome
bleeding, thrombocytopenia
2 shared
Paris–Trousseau syndrome
bleeding, thrombocytopenia
2 shared
Thrombocytopenia with absent radii syndrome
bleeding, thrombocytopenia
1 shared
Antiphospholipid syndrome
thrombocytopenia
1 shared
Atypical hemolytic uremic syndrome
thrombocytopenia
1 shared
Bernard–Soulier syndrome
thrombocytopenia
1 shared
CHARGE syndrome
growth retardation
1 shared
Chediak–Higashi syndrome
bleeding
1 shared
Disseminated intravascular coagulation syndrome
bleeding
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