NOONAN SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: NS4
Number of Symptoms 37
OrphanetNr:
OMIM Id: 610733
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
5
(HPO:0012471) Thick vermilion border 115 / 7739
6
(HPO:0000256) Macrocephaly 298 / 7739
7
(HPO:0000286) Epicanthus 371 / 7739
8
(HPO:0009890) High anterior hairline 10 / 7739
9
(HPO:0005280) Depressed nasal bridge 381 / 7739
10
(HPO:0000470) Short neck 345 / 7739
11
(HPO:0000465) Webbed neck 81 / 7739
12
(HPO:0000179) Thick lower lip vermilion 72 / 7739
13
(HPO:0000689) Dental malocclusion 114 / 7739
14
(HPO:0000635) Blue irides 25 / 7739
15
(HPO:0000508) Ptosis 459 / 7739
16
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
17
(HPO:0006610) Wide intermamillary distance 46 / 7739
18
(HPO:0002967) Cubitus valgus 49 / 7739
19
(HPO:0002650) Scoliosis 705 / 7739
20
(HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
21
(HPO:0004322) Short stature 1232 / 7739
22
(HPO:0002212) Curly hair 21 / 7739
23
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
24
(HPO:0001629) Ventricular septal defect 316 / 7739
25
(HPO:0001642) Pulmonic stenosis 89 / 7739
26
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
27
(HPO:0003010) Prolonged bleeding time rare [HPO:skoehler] 88 / 7739
28
(HPO:0001892) Abnormal bleeding 85 / 7739
29
(MedDRA:10066295) Keratosis pilaris 11 / 7739
30
(OMIM) Ectodermal symptoms 1 / 7739
31
(OMIM) Partial deficiency of factor XI (less common) 2 / 7739
32
(OMIM) Multiple giant cell granulomas (bones, joints, soft tissues) 2 / 7739
33
(OMIM) Blunt fingertips 2 / 7739
34
(OMIM) Polyarticular villonodular synovitis (knees, ankles, wrists, elbows (in some patients) 2 / 7739
35
(OMIM) Cognitive impairment, mild 15 / 7739
36
(OMIM) Partial deficiency of factor XIII (less common) 2 / 7739
37
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Roberts et al. (2007) and Tartaglia et al. (2007) delineated a Noonan syndrome phenotype caused by mutation in the SOS1 gene that lies within the Noonan syndrome spectrum but is distinctive. Roberts et al. (2007) noted 2 significant ...
Molecular genetics OMIM Roberts et al. (2007) and Tartaglia et al. (2007) found mutation in the SOS1 gene (182530) in Noonan syndrome patients without mutation in PTPN11 (176876) or KRAS2 (190070). Gain-of-function mutations in PTPN11, which encodes the tyrosine phosphatase SHP2, ...