Cardiology · Cardiology / Genetic cardiology
Noonan syndrome
also: Male Turner syndrome; Turner phenotype with normal karyotype
RASopathy with pulmonary valve stenosis, hypertrophic cardiomyopathy, short stature and distinctive facies.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital
- Gene(s) involved
- BRAF, CBL, KRAS, LZTR1, MAP2K1, MRAS, NRAS, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2
- Alternative names & eponyms
- Male Turner syndrome; Turner phenotype with normal karyotype
Etiology & mechanism
Hyperactivated RAS–MAPK signaling.
Gene(s) involved (14)
Symptoms & signs (11)
In plain terms, someone with Noonan 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
3 shared
Aarskog–Scott syndrome
cryptorchidism, hypertelorism, short stature
3 shared
LEOPARD syndrome
hypertelorism, hypertrophic cardiomyopathy, short stature
2 shared
Andersen–Tawil syndrome
low-set ears, short stature
2 shared
Cardio-facio-cutaneous syndrome
developmental delay, short stature
2 shared
Costello syndrome
hypertrophic cardiomyopathy, short stature
2 shared
Noonan syndrome with multiple lentigines
hypertelorism, hypertrophic cardiomyopathy
2 shared
Peters plus syndrome
developmental delay, short stature
2 shared
Turner syndrome
short stature, webbed neck
2 shared
Turner syndrome cardiovascular disease
short stature, webbed neck
2 shared
Weaver syndrome
developmental delay, hypertelorism
Shares genes with
4 shared
LEOPARD syndrome
BRAF, MAP2K1, PTPN11, RAF1
4 shared
Noonan syndrome with multiple lentigines
BRAF, MAP2K1, PTPN11, RAF1
3 shared
Cardio-facio-cutaneous syndrome
BRAF, KRAS, MAP2K1
3 shared
Cardiofaciocutaneous syndrome
BRAF, KRAS, MAP2K1
2 shared
Autoimmune lymphoproliferative syndrome
KRAS, NRAS
2 shared
Gorham–Stout syndrome
KRAS, NRAS
1 shared
Gorham syndrome
KRAS
1 shared
Neurofibromatosis type 2
LZTR1
1 shared
Schwannomatosis syndrome
LZTR1
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