Endocrinology · Endocrinology / Endocrine oncology
Cowden syndrome
also: PTEN hamartoma tumor syndrome
Hamartomas with thyroid, breast and endometrial cancer risk.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Endocrine oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, macrocephaly in childhood
- Gene(s) involved
- AKT1, KLLN, PIK3CA, PTEN, SDHB, SDHD
- Alternative names & eponyms
- PTEN hamartoma tumor syndrome
Etiology & mechanism
PTEN haploinsufficiency activates PI3K/AKT signaling.
Gene(s) involved (6)
Symptoms & signs (8)
In plain terms, someone with Cowden 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
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
autism, macrocephaly
2 shared
DICER1 syndrome
macrocephaly, thyroid cancer
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
Fragile X syndrome
autism
1 shared
Gorlin syndrome
macrocephaly
1 shared
Kenny–Caffey syndrome
macrocephaly
1 shared
Lhermitte–Duclos syndrome
macrocephaly
1 shared
Li–Fraumeni syndrome
breast cancer
1 shared
Lujan–Fryns syndrome
macrocephaly
1 shared
Lynch syndrome
endometrial cancer
Shares genes with
2 shared
Hereditary paraganglioma–pheochromocytoma syndrome
SDHB, SDHD
1 shared
Bannayan–Riley–Ruvalcaba syndrome
PTEN
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
PTEN
1 shared
Gorham syndrome
PIK3CA
1 shared
Klippel–Trénaunay syndrome
PIK3CA
1 shared
Klippel–Trénaunay syndrome with neurological involvement
PIK3CA
1 shared
Lhermitte–Duclos syndrome
PTEN
1 shared
Proteus syndrome
AKT1
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