Cardiology · Cardiology / Genetic cardiology
Noonan syndrome with multiple lentigines
also: Gorlin syndrome II; LEOPARD syndrome
RASopathy with lentigines, ECG abnormalities, pulmonary stenosis and hypertrophic cardiomyopathy.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- BRAF, MAP2K1, PTPN11, RAF1
- Alternative names & eponyms
- Gorlin syndrome II; LEOPARD syndrome
Etiology & mechanism
Loss-of-function PTPN11 variants.
Gene(s) involved (4)
Symptoms & signs (8)
In plain terms, someone with Noonan syndrome with multiple lentigines 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
6 shared
LEOPARD syndrome
genital anomalies, hypertelorism, hypertrophic cardiomyopathy, multiple lentigines, pulmonary stenosis, sensorineural deafness
2 shared
Cardiofaciocutaneous syndrome
hypertrophic cardiomyopathy, pulmonary stenosis
2 shared
Noonan syndrome
hypertelorism, hypertrophic cardiomyopathy
1 shared
Aarskog–Scott syndrome
hypertelorism
1 shared
Barakat syndrome
sensorineural deafness
1 shared
Brown–Vialetto–Van Laere syndrome
sensorineural deafness
1 shared
Carcinoid heart disease
pulmonary stenosis
1 shared
CHARGE syndrome
growth retardation
1 shared
Costello syndrome
hypertrophic cardiomyopathy
1 shared
Crouzon syndrome
hypertelorism
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