Noonan syndrome with multiple lentigines
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:LEOPARD_syndrome
|
| gptkbp:category |
gptkb:RASopathy
|
| gptkbp:differentialDiagnosis |
gptkb:Noonan_syndrome
gptkb:neurofibromatosis_type_1 |
| gptkbp:firstDescribed |
1969
|
| https://www.w3.org/2000/01/rdf-schema#label |
Noonan syndrome with multiple lentigines
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:MAP2K1
gptkb:PTPN11 gptkb:BRAF gptkb:RAF1 |
| gptkbp:namedAfter |
J. M. Gorlin
R. S. Anderson |
| gptkbp:OMIM |
151100
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
short stature
hypertrophic cardiomyopathy cardiac abnormalities facial dysmorphism multiple lentigines genital anomalies sensorineural deafness |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:LEOPARD_syndrome
|
| gptkbp:bfsLayer |
7
|