Endocrinology · Endocrinology / Endocrine oncology
DICER1 syndrome
also: Pleuropulmonary blastoma familial tumor predisposition
Hereditary predisposition to multinodular goiter, ovarian sex-cord tumors and pleuropulmonary blastoma.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Endocrine oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, early childhood
- Gene(s) involved
- DICER1
- Alternative names & eponyms
- Pleuropulmonary blastoma familial tumor predisposition
Etiology & mechanism
DICER1 haploinsufficiency with somatic second hit.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with DICER1 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.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Cowden syndrome
macrocephaly, thyroid cancer
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
macrocephaly
1 shared
Gorlin syndrome
macrocephaly
1 shared
Kenny–Caffey syndrome
macrocephaly
1 shared
Lhermitte–Duclos syndrome
macrocephaly
1 shared
Lujan–Fryns syndrome
macrocephaly
1 shared
Opitz–Kaveggia syndrome
macrocephaly
1 shared
Sotos syndrome
macrocephaly
1 shared
Weaver syndrome
macrocephaly
Shares genes with
None.
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