NOONAN SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs: NS5
Number of Symptoms 9
OrphanetNr:
OMIM Id: 611553
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000465) Webbed neck 7/9 [HPO:probinson] 17603482 IBIS 81 / 7739
2
(HPO:0000470) Short neck 17603482 IBIS 345 / 7739
3
(HPO:0001999) Abnormal facial shape 17603482 IBIS 169 / 7739
4
(HPO:0001263) Global developmental delay 17603482 IBIS 853 / 7739
5
(HPO:0000766) Abnormality of the sternum 17603482 IBIS 31 / 7739
6
(HPO:0004322) Short stature 10/11 [HPO:probinson] 17603482 IBIS 1232 / 7739
7
(HPO:0001631) Atria septal defect 6/11 [HPO:probinson] 17603482 IBIS 274 / 7739
8
(HPO:0001639) Hypertrophic cardiomyopathy 8/11 [HPO:probinson] 17603482 IBIS 137 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Pandit et al. (2007) analyzed the RAF1 gene, a serine-threonine kinase that activates MEK1 (176872) and MEK2 (601263), in 231 individuals with Noonan syndrome who did not have mutations in the PTPN11 (176876), KRAS (190070), or SOS1 (182530) ...