MCID: NNN008
MIFTS: 77

Noonan Syndrome 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Noonan Syndrome 1

MalaCards integrated aliases for Noonan Syndrome 1:

Name: Noonan Syndrome 1 53 12 49 71 28 13
Noonan Syndrome 53 12 72 23 49 24 55 71 36 28 51 41 14 69
Female Pseudo-Turner Syndrome 53 49 24 71
Male Turner Syndrome 53 49 24 71
Turner Phenotype with Normal Karyotype 53 24 71
Ns1 53 12 71
Pseudo-Ullrich-Turner Syndrome 49 24
Ullrich-Noonan Syndrome 49 24
Noonan-Ehmke Syndrome 49 24
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 71
Noonan Syndrome with Pigmented Villonodular Synovitis 71
Noonan-Like/multiple Giant Cell Lesion Syndrome 71
Turner Syndrome in Female with X Chromosome 24
Turner's Phenotype, Karyotype Normal 12
Pterygium Colli Syndrome 71
Familial Turner Syndrome 24
Turner Syndrome, Male 69
Turner-Like Syndrome 24
Noonan's Syndrome 24
Ns 24

Characteristics:

Orphanet epidemiological data:

55
noonan syndrome
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to leopard syndrome


HPO:

31
noonan syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance of ns is difficult to determine because of ascertainment bias and variable expressivity with frequent subtlety of features. many affected adults are diagnosed only after the birth of a more obviously affected infant...

Classifications:



Summaries for Noonan Syndrome 1

NIH Rare Diseases : 49 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. Noonan syndrome may be caused by a mutation in any of several genes, and can be classified into subtypes based on the responsible gene. It is typically inherited in an autosomal dominant manner, but many cases are due to a new mutation and are not inherited from either parent. Treatment depends on the symptoms present in each person. Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Other conditions in this group include:neurofibromatosis type 1 LEOPARD syndrome, also called Noonan syndrome with multiple lentigines  Costello syndrome cardiofaciocutaneous syndrome Legius syndrome capillary malformation–arteriovenous malformation syndrome Last updated: 10/2/2017

MalaCards based summary : Noonan Syndrome 1, also known as noonan syndrome, is related to cardiofaciocutaneous syndrome 1 and noonan-like/multiple giant cell lesion syndrome, and has symptoms including muscle weakness, hypertelorism and pectus excavatum. An important gene associated with Noonan Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Ras signaling pathway and MAPK signaling pathway. The drugs Ivermectin and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). (163950)

UniProtKB/Swiss-Prot : 71 Noonan syndrome 1: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints.

Genetics Home Reference : 24 Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

Disease Ontology : 12 A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24.

GeneReviews: NBK1124

Related Diseases for Noonan Syndrome 1

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10

Diseases related to Noonan Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 cardiofaciocutaneous syndrome 1 31.7 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
2 noonan-like/multiple giant cell lesion syndrome 12.8
3 multiple pterygium syndrome, escobar variant 11.4
4 noonan syndrome 3 11.2
5 noonan syndrome 2 10.8
6 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.8
7 noonan syndrome 8 10.8
8 noonan syndrome 9 10.8
9 noonan syndrome 10 10.8
10 influenza 10.7
11 noonan syndrome with multiple lentigines 10.7 BRAF PTPN11 RAF1
12 sigmoid neoplasm 10.7 HRAS KRAS
13 hypertelorism 10.7 BRAF PTPN11 RAF1
14 tumor suppressor gene on chromosome 11 10.7 BRAF KRAS MAP2K1
15 lentigines 10.7 BRAF PTPN11 RAF1
16 schimmelpenning-feuerstein-mims syndrome 10.7 HRAS KRAS NRAS
17 autosomal dominant café au lait spots 10.6 NF1 PTPN11
18 nevus, epidermal 10.6 HRAS KRAS NRAS
19 core binding factor acute myeloid leukemia 10.6 HRAS KRAS NRAS
20 apocrine adenoma 10.6 HRAS KRAS
21 liver angiosarcoma 10.6 HRAS KRAS NRAS
22 neurofibromatosis-noonan syndrome 10.6 MAP2K2 NF1 PTPN11
23 ovarian melanoma 10.6 HRAS MAP2K1 NRAS
24 slipped capital femoral epiphysis 10.6 IGF1 IGFBP3
25 lung benign neoplasm 10.6 HRAS KRAS RAF1
26 vulvar melanoma 10.6 HRAS NF1 NRAS
27 periampullary adenoma 10.6 HRAS KRAS
28 colorectal adenocarcinoma 10.6 BRAF HRAS KRAS
29 differentiated thyroid carcinoma 10.6 BRAF HRAS KRAS NRAS
30 colonic benign neoplasm 10.6 BRAF HRAS KRAS
31 acneiform dermatitis 10.6 HRAS KRAS MAP2K1 NRAS
32 secondary adrenal insufficiency 10.6 IGF1 IGFBP3
33 myelodysplastic myeloproliferative cancer 10.6 HRAS NF1 NRAS PTPN11
34 cell type benign neoplasm 10.6 HRAS IGF1 KRAS
35 benign struma ovarii 10.6 HRAS NRAS
36 melanoma, cutaneous malignant 1 10.6 BRAF HRAS MAP2K1 NRAS
37 pancreas adenocarcinoma 10.6 HRAS KRAS MAP2K2
38 spitz nevus 10.6 BRAF HRAS
39 lung cancer susceptibility 3 10.5 BRAF HRAS KRAS RAF1
40 leopard syndrome 10.5 BRAF HRAS NF1 PTPN11 RAF1
41 colorectal adenoma 10.5 HRAS IGF1 IGFBP3 KRAS
42 cell type cancer 10.5 HRAS KRAS NRAS
43 endocrine gland cancer 10.5 HRAS IGFBP3 KRAS
44 neurofibromatosis, type iv, of riccardi 10.5 HRAS KRAS NF1 PTPN11 RASA2
45 adenocarcinoma 10.5 BRAF HRAS KRAS RAF1
46 paronychia 10.5 HRAS KRAS
47 thyroid cancer 10.5 BRAF HRAS KRAS MAP2K1 NRAS
48 villonodular synovitis 10.5 PTPN11 SOS1
49 myelodysplastic syndrome 10.5 HRAS KRAS NF1 NRAS PTPN11
50 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 IGF1 IGFBP3

Graphical network of the top 20 diseases related to Noonan Syndrome 1:



Diseases related to Noonan Syndrome 1

Symptoms & Phenotypes for Noonan Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
ptosis
myopia
downslanting palpebral fissures
epicanthal folds
more
Skeletal Limbs:
clinodactyly
cubitus valgus
brachydactyly
blunt fingertips
polyarticular villonodular synovitis (knees, ankles, wrists, elbows - in some patients)

Head And Neck Face:
micrognathia
triangular face (with age)

Genitourinary Internal Genitalia Male:
cryptorchidism
occasional hypogonadism
male infertility (in individuals with bilateral cryptorchidism)

Chest RibsSternum Clavicles And Scapulae:
shield chest
pectus carinatum superiorly
pectus excavatum inferiorly

Skin Nails Hair Hair:
low posterior hairline
woolly-like hair

Cardiovascular Heart:
pulmonic stenosis
congenital heart defect
atrial septal defects
ventricular septal defects
hypertrophic obstructive cardiomyopathy

Hematology:
amegakaryocytic thrombocytopenia
von willebrand disease
bleeding tendency

Head And Neck Ears:
hearing loss, sensorineural
low-set posteriorly rotated ears

Neurologic Central Nervous System:
articulation difficulties
mental retardation (25%)

Head And Neck Neck:
short neck
webbed neck
cystic hygroma

Head And Neck Teeth:
dental malocclusion

Cardiovascular Vascular:
patent ductus arteriosus
aortic coarctation

Muscle Soft Tissue:
lymphedema

Growth Other:
failure to thrive in infancy
specific growth curves are available

Laboratory Abnormalities:
thrombocytopenia
partial deficiency of factor xi(c)
partial deficiency of factor xii(c)
partial deficiency of factor xiii(c)

Skeletal Spine:
kyphoscoliosis
vertebral abnormalities

Head And Neck Mouth:
high arched palate
deeply grooved philtrum
high peaks of upper lip vermilion border

Growth Height:
short stature (postnatal onset)

Neoplasia:
malignant schwannoma
multiple giant cell granulomas (bones, joints, soft tissues)


Clinical features from OMIM:

163950

Human phenotypes related to Noonan Syndrome 1:

55 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 pectus excavatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000767
4 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
5 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
6 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
7 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
8 dysarthria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001260
9 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
10 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
11 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
12 pectus carinatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000768
13 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
14 coarse hair 55 31 frequent (33%) Frequent (79-30%) HP:0002208
15 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
16 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
17 arrhythmia 55 31 frequent (33%) Frequent (79-30%) HP:0011675
18 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
19 abnormal bleeding 55 31 frequent (33%) Frequent (79-30%) HP:0001892
20 aplasia/hypoplasia of the abdominal wall musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0010318
21 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
22 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
23 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
24 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
25 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
26 enlarged thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0100625
27 wide intermamillary distance 55 31 hallmark (90%) Very frequent (99-80%) HP:0006610
28 webbed neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000465
29 thickened nuchal skin fold 55 31 hallmark (90%) Very frequent (99-80%) HP:0000474
30 low posterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0002162
31 abnormal dermatoglyphics 55 31 frequent (33%) Frequent (79-30%) HP:0007477
32 cystic hygroma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000476
33 melanocytic nevus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000995
34 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000044
35 abnormal hair quantity 55 31 frequent (33%) Frequent (79-30%) HP:0011362
36 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
37 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
38 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
39 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
40 abnormality of the spleen 55 31 frequent (33%) Frequent (79-30%) HP:0001743
41 abnormal platelet function 55 31 frequent (33%) Frequent (79-30%) HP:0011869
42 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
43 radioulnar synostosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002974
44 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
45 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
46 triangular face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000325
47 thickened helices 55 31 hallmark (90%) Very frequent (99-80%) HP:0000391
48 abnormality of coagulation 55 31 frequent (33%) Frequent (79-30%) HP:0001928
49 pulmonary artery stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004415
50 aplasia of the semicircular canal 55 31 occasional (7.5%) Occasional (29-5%) HP:0011381

GenomeRNAi Phenotypes related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

25 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 10.34 NF1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.34 NF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.34 RAF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.34 RASA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.34 RASA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.34 NRAS A2ML1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 10.34 RAF1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.34 A2ML1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.34 A2ML1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.34 NF1 NRAS A2ML1 RAF1 RASA2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.34 NRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.34 A2ML1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.34 A2ML1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.34 NRAS RAF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.34 RASA2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.34 RASA2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.34 A2ML1 RASA2
18 Decreased viability GR00055-A-2 10.13 HRAS KRAS
19 Decreased viability GR00106-A-0 10.13 KRAS
20 Decreased viability GR00221-A-1 10.13 NF1 NRAS RAF1 HRAS KRAS
21 Decreased viability GR00221-A-2 10.13 NF1 RAF1 HRAS KRAS
22 Decreased viability GR00221-A-3 10.13 NRAS HRAS
23 Decreased viability GR00221-A-4 10.13 NF1
24 Decreased viability GR00231-A 10.13 RAF1
25 Decreased viability GR00301-A 10.13 RAF1 KRAS
26 Decreased viability GR00381-A-1 10.13 KRAS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.83 SOS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.83 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.83 PTPN11
30 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.83 SOS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.83 PTPN11
32 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.83 SOS1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.83 SOS1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.83 PTPN11
35 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.83 NF1 PTPN11 RAF1 SOS1 BRAF
36 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.83 RAF1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 RAF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 BRAF
39 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 BRAF
40 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.83 PTPN11
41 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 PTPN11
42 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.83 BRAF
43 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.83 BRAF
44 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.83 BRAF
45 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.83 BRAF
46 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.83 PTPN11
47 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.83 NF1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.83 PTPN11 BRAF
49 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 RAF1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.83 PTPN11

MGI Mouse Phenotypes related to Noonan Syndrome 1:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 BRAF HRAS IGF1 IGFBP3 KRAS MAP2K1
2 homeostasis/metabolism MP:0005376 10.37 BRAF HRAS IGF1 IGFBP3 KRAS LZTR1
3 growth/size/body region MP:0005378 10.34 IGF1 IGFBP3 KRAS MAP2K1 MAP2K2 NF1
4 cellular MP:0005384 10.32 PTPN11 RAF1 RIT1 SOS1 BRAF IGF1
5 endocrine/exocrine gland MP:0005379 10.31 MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1
6 integument MP:0010771 10.29 PTPN11 RAF1 SHOC2 SOS1 BRAF HRAS
7 craniofacial MP:0005382 10.27 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
8 mortality/aging MP:0010768 10.25 BRAF HRAS IGF1 KRAS LZTR1 MAP2K1
9 digestive/alimentary MP:0005381 10.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10 embryo MP:0005380 10.2 BRAF KRAS MAP2K1 NF1 NRAS PTPN11
11 hearing/vestibular/ear MP:0005377 10.11 PTPN11 RAF1 BRAF IGF1 KRAS MAP2K1
12 neoplasm MP:0002006 10.11 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
13 normal MP:0002873 10.1 SOS2 BRAF HRAS IGF1 KRAS MAP2K1
14 muscle MP:0005369 10.01 RAF1 SOS1 BRAF IGF1 IGFBP3 KRAS
15 liver/biliary system MP:0005370 10 BRAF IGFBP3 KRAS NF1 NRAS PTPN11
16 respiratory system MP:0005388 9.81 BRAF HRAS IGF1 IGFBP3 KRAS NF1
17 pigmentation MP:0001186 9.73 BRAF IGFBP3 KRAS NF1 NRAS PTPN11
18 skeleton MP:0005390 9.73 BRAF HRAS IGF1 IGFBP3 KRAS MAP2K1
19 vision/eye MP:0005391 9.28 BRAF KRAS MAP2K1 MAP2K2 NF1 NRAS

Drugs & Therapeutics for Noonan Syndrome 1

Drugs for Noonan Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Investigational, Vet_approved Phase 2, Phase 3 70288-86-7 46936176 6474909
2
Simvastatin Approved Phase 3 79902-63-9 54454
3 Anti-Infective Agents Phase 2, Phase 3
4 Antiparasitic Agents Phase 2, Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Anticholesteremic Agents Phase 3
9 Antimetabolites Phase 3
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
11 Hypolipidemic Agents Phase 3
12 Lipid Regulating Agents Phase 3
13
Lenograstim Approved, Investigational Phase 2 135968-09-1
14
Trametinib Approved Phase 2 871700-17-3 11707110
15
Zinc Approved, Investigational Phase 2 7440-66-6 32051 23994
16 Adjuvants, Immunologic Phase 2
17 Hypoglycemic Agents Phase 2
18 insulin Phase 2
19 Insulin, Globin Zinc Phase 2
20 Protein Kinase Inhibitors Phase 2
21 Mitogens Phase 2
22
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
23
Aluminum sulfate Approved Phase 1 10043-01-3
24 Vaccines Phase 1
25 monensin

Interventional clinical trials:

(show all 28)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Ivermectin Against Dengue Infection Unknown status NCT02045069 Phase 2, Phase 3 2 days Ivermectin;3 days Ivermectin;Placebo
2 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3 somatropin;somatropin
3 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
4 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3 somatropin;somatropin
5 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
6 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Active, not recruiting NCT01927861 Phase 3 somatropin
7 G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical Response Completed NCT00397423 Phase 2 Granulocyte Colony Stimulating Factor;NS
8 Celgosivir as a Treatment Against Dengue Completed NCT01619969 Phase 1, Phase 2 celgosivir;placebo
9 Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
10 Pharmacokinetics and Pharmacodynamics of Ivermectin in Pediatric Dengue Patients Not yet recruiting NCT03432442 Phase 2 Ivermectin
11 Celgosivir or Modipafant as Treatment for Adult Participants With Uncomplicated Dengue Fever in Singapore Not yet recruiting NCT02569827 Phase 1, Phase 2 Celgosivir;Modipafant 50mg;Placebo;Modipafant 100mg
12 Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
13 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
14 Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule Study Active, not recruiting NCT02937233 Phase 1
15 Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, Taiwan Unknown status NCT01163123
16 Dengue Virus NS1 Antigen (Bio-Rad) Clinical Protocol Completed NCT01226173
17 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
18 Specificity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02107677
19 Diagnosis and Characterization of Dengue Fever in Children Completed NCT00946218
20 Laboratory Diagnosis and Prognosis of Severe Dengue Completed NCT01421732
21 Comparative Trial in Compression Therapy in Leg Lymphedema Completed NCT00665379
22 Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
23 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
24 Sensitivity Study of Diagnostic for Early Detection of Dengue Infection Active, not recruiting NCT02059122
25 This Study Will Describe the Burden of DENgue Fever Virus (DENV) Illness Among Household Members Aged 6 Months to 50 Years of Selected Communities in Latin America and Southeast Asia Active, not recruiting NCT02766088
26 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Not yet recruiting NCT02486731
27 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Not yet recruiting NCT03435627 Somatropin
28 Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue Diagnosis Terminated NCT02435615

Search NIH Clinical Center for Noonan Syndrome 1

Cochrane evidence based reviews: noonan syndrome

Genetic Tests for Noonan Syndrome 1

Genetic tests related to Noonan Syndrome 1:

# Genetic test Affiliating Genes
1 Noonan Syndrome 1 28 BRAF MAP2K1 PTPN11
2 Noonan Syndrome 28 MAP2K1 PTPN11

Anatomical Context for Noonan Syndrome 1

MalaCards organs/tissues related to Noonan Syndrome 1:

38
Heart, Skin, Bone, Testes, Eye, Spleen

Publications for Noonan Syndrome 1

Articles related to Noonan Syndrome 1:

(show top 50) (show all 597)
# Title Authors Year
1
Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome. ( 29232041 )
2018
2
Lymphangioma circumscriptum der Vulva bei einer Patientin mit Noonan-Syndrom. ( 29314699 )
2018
3
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
4
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. ( 28582432 )
2017
5
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. ( 28911943 )
2017
6
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. ( 28098151 )
2017
7
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ( 28483241 )
2017
8
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. ( 28928975 )
2017
9
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome. ( 29301184 )
2017
10
Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7. ( 28084675 )
2017
11
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. ( 28971455 )
2017
12
Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome. ( 28804206 )
2017
13
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. ( 28074573 )
2017
14
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. ( 28681392 )
2017
15
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature. ( 28328117 )
2017
16
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death. ( 28347726 )
2017
17
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. ( 28607217 )
2017
18
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. ( 27868344 )
2017
19
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. ( 26518681 )
2016
20
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. ( 27264673 )
2016
21
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26952712 )
2016
22
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. ( 27109146 )
2016
23
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. ( 26758488 )
2016
24
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. ( 27101134 )
2016
25
Myocardial fragmentation associated with disruption of the Z-band in hypertrophic cardiomyopathy in Noonan syndrome. ( 27216919 )
2016
26
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome. ( 28018461 )
2016
27
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. ( 25959749 )
2016
28
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. ( 26714497 )
2016
29
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ( 27348588 )
2016
30
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. ( 27238887 )
2016
31
Recurrent SDSE bacteraemia resulting in streptococcal toxic shock syndrome in a patient with Noonan syndrome. ( 27485878 )
2016
32
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. ( 26757980 )
2016
33
Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naA^ve patients enrolled in the NordiNetAr International Outcome Study and the ANSWER Program. ( 26351466 )
2015
34
Possible correlations between annular pustular psoriasis and Noonan syndrome. ( 26670215 )
2015
35
The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review. ( 25721697 )
2015
36
Transnodal lymphangiography and post-CT for protein-losing enteropathy in Noonan syndrome. ( 25636017 )
2015
37
Elevated calcium transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan Syndrome with Multiple Lentigines. ( 25724491 )
2015
38
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog. ( 25708222 )
2015
39
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. ( 25795793 )
2015
40
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. ( 26178382 )
2015
41
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. ( 26467218 )
2015
42
Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. ( 26444854 )
2015
43
Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction. ( 26272816 )
2015
44
Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome. ( 25585602 )
2015
45
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. ( 25423878 )
2015
46
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26337637 )
2015
47
Prolapse of all cardiac valves in Noonan syndrome. ( 25716036 )
2015
48
External ear anomalies and hearing impairment in Noonan Syndrome. ( 25862627 )
2015
49
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family. ( 25712082 )
2015
50
Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report. ( 25575339 )
2015

Variations for Noonan Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 1:

71 (show all 39)
# Symbol AA change Variation ID SNP ID
1 PTPN11 p.Thr42Ala VAR_015601 rs397507501
2 PTPN11 p.Gly60Ala VAR_015602 rs397507509
3 PTPN11 p.Asp61Gly VAR_015603 rs121918461
4 PTPN11 p.Asp61Asn VAR_015604 rs397507510
5 PTPN11 p.Tyr62Asp VAR_015605 rs121918460
6 PTPN11 p.Tyr63Cys VAR_015606 rs121918459
7 PTPN11 p.Ala72Gly VAR_015607 rs121918454
8 PTPN11 p.Ala72Ser VAR_015608 rs121918453
9 PTPN11 p.Thr73Ile VAR_015609 rs121918462
10 PTPN11 p.Glu76Asp VAR_015610 rs397507514
11 PTPN11 p.Gln79Arg VAR_015611 rs121918466
12 PTPN11 p.Asp106Ala VAR_015612 rs397507517
13 PTPN11 p.Glu139Asp VAR_015613 rs397507520
14 PTPN11 p.Tyr279Cys VAR_015614 rs121918456
15 PTPN11 p.Ile282Val VAR_015615 rs397507529
16 PTPN11 p.Phe285Ser VAR_015616 rs121918463
17 PTPN11 p.Phe285Leu VAR_015617 rs397507531
18 PTPN11 p.Asn308Ser VAR_015618 rs121918455
19 PTPN11 p.Asn308Asp VAR_015619 rs28933386
20 PTPN11 p.Arg505Lys VAR_015622 rs397507543
21 PTPN11 p.Ser506Thr VAR_015623 rs121918458
22 PTPN11 p.Met508Val VAR_015624 rs397507547
23 PTPN11 p.Gly507Arg VAR_016003 rs397507545
24 PTPN11 p.Thr2Ile VAR_027183 rs267606990
25 PTPN11 p.Asn58Lys VAR_027184 rs397507506
26 PTPN11 p.Glu69Gln VAR_027185 rs397507511
27 PTPN11 p.Gln79Pro VAR_027186
28 PTPN11 p.Gln256Arg VAR_027187 rs397507523
29 PTPN11 p.Thr415Met VAR_027189 rs121918467
30 PTPN11 p.Gln510Arg VAR_027195
31 PTPN11 p.Leu564Phe VAR_027197 rs397516797
32 PTPN11 p.Thr59Ala VAR_066060 rs886043790
33 PTPN11 p.Pro495Ser VAR_071706 rs397507539
34 PTPN11 p.Gln514Glu VAR_076499 rs397507549
35 PTPN11 p.Leu261Phe VAR_078101 rs397507525
36 PTPN11 p.Leu261His VAR_078102 rs765642157
37 PTPN11 p.Leu262Phe VAR_078103
38 PTPN11 p.Leu262Arg VAR_078104 rs397507526
39 PTPN11 p.Arg265Gln VAR_078105 rs376607329

ClinVar genetic disease variations for Noonan Syndrome 1:

6 (show top 50) (show all 153)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
2 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
3 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
4 KRAS NM_004985.4(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh37 Chromosome 12, 25398304: 25398304
5 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh37 Chromosome 2, 39278352: 39278352
6 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh37 Chromosome 2, 39278343: 39278343
7 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh37 Chromosome 2, 39249915: 39249915
8 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh37 Chromosome 2, 39249913: 39249913
9 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh37 Chromosome 2, 39250275: 39250275
10 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
11 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
12 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
13 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
14 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
15 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
16 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh37 Chromosome 12, 112888166: 112888166
17 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
18 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh37 Chromosome 12, 112926884: 112926884
19 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
20 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
21 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 GRCh37 Chromosome 12, 112915455: 112915455
22 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
23 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
24 PTPN11 NM_002834.4(PTPN11): c.1232C> T (p.Thr411Met) single nucleotide variant Pathogenic rs121918467 GRCh37 Chromosome 12, 112924286: 112924286
25 PTPN11 NM_002834.4(PTPN11): c.1529A> G (p.Gln510Arg) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
26 PTPN11 NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del) deletion Pathogenic rs80338836 GRCh37 Chromosome 12, 112888163: 112888165
27 PTPN11 NM_002834.4(PTPN11): c.5C> T (p.Thr2Ile) single nucleotide variant Pathogenic rs267606990 GRCh37 Chromosome 12, 112856920: 112856920
28 NRAS NM_002524.4(NRAS): c.149C> T (p.Thr50Ile) single nucleotide variant Pathogenic rs267606921 GRCh37 Chromosome 1, 115256562: 115256562
29 NRAS NM_002524.4(NRAS): c.179G> A (p.Gly60Glu) single nucleotide variant Pathogenic rs267606920 GRCh37 Chromosome 1, 115256532: 115256532
30 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
31 RAF1 NM_002880.3(RAF1): c.781C> T (p.Pro261Ser) single nucleotide variant Pathogenic rs121434594 GRCh37 Chromosome 3, 12645688: 12645688
32 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
33 BRAF NM_004333.4(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic/Likely pathogenic rs121913369 GRCh37 Chromosome 7, 140453146: 140453146
34 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
35 BRAF NM_004333.4(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
36 BRAF NM_004333.4(BRAF): c.722C> G (p.Thr241Arg) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
37 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
38 BRAF NM_004333.4(BRAF): c.1593G> C (p.Trp531Cys) single nucleotide variant Pathogenic rs606231228 GRCh38 Chromosome 7, 140777013: 140777013
39 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
40 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
41 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254
42 KRAS NM_004985.4(KRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs104894366 GRCh37 Chromosome 12, 25398218: 25398218
43 NRAS NM_002524.4(NRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
44 PTPN11 NM_002834.4(PTPN11): c.124A> G (p.Thr42Ala) single nucleotide variant Pathogenic rs397507501 GRCh37 Chromosome 12, 112884189: 112884189
45 PTPN11 NM_002834.4(PTPN11): c.155C> T (p.Thr52Ile) single nucleotide variant Likely pathogenic rs397507503 GRCh37 Chromosome 12, 112888139: 112888139
46 PTPN11 NM_002834.4(PTPN11): c.172A> C (p.Asn58His) single nucleotide variant Pathogenic rs397507505 GRCh37 Chromosome 12, 112888156: 112888156
47 PTPN11 NM_002834.4(PTPN11): c.172A> G (p.Asn58Asp) single nucleotide variant Pathogenic rs397507505 GRCh37 Chromosome 12, 112888156: 112888156
48 PTPN11 NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys) single nucleotide variant Pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
49 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
50 PTPN11 NM_002834.4(PTPN11): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic/Likely pathogenic rs397507507 GRCh37 Chromosome 12, 112888162: 112888162

Expression for Noonan Syndrome 1

Search GEO for disease gene expression data for Noonan Syndrome 1.

Pathways for Noonan Syndrome 1

Pathways related to Noonan Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Ras signaling pathway hsa04014
2 MAPK signaling pathway hsa04010

Pathways related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 204)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.37 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
2
Show member pathways
14.07 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
3
Show member pathways
14.05 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
4
Show member pathways
13.93 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
5
Show member pathways
13.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
6
Show member pathways
13.86 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
7
Show member pathways
13.8 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
8
Show member pathways
13.79 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
9
Show member pathways
13.77 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10
Show member pathways
13.63 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11
Show member pathways
13.62 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
12
Show member pathways
13.58 HRAS IGF1 KRAS NRAS RAF1 RRAS
13
Show member pathways
13.57 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
14
Show member pathways
13.55 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
15
Show member pathways
13.5 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
16
Show member pathways
13.46 HRAS IGF1 KRAS NRAS PTPN11 RAF1
17
Show member pathways
13.35 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
18
Show member pathways
13.34 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
19
Show member pathways
13.34 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
20
Show member pathways
13.33 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
21
Show member pathways
13.29 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
22
Show member pathways
13.26 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
23
Show member pathways
13.23 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
24
Show member pathways
13.21 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
25
Show member pathways
13.2 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
26
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
27
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 NRAS RAF1
28
Show member pathways
13.18 BRAF HRAS IGF1 IGFBP3 KRAS MAP2K1
29
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
30 13.14 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
31
Show member pathways
13.11 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
32
Show member pathways
13.09 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
33
Show member pathways
13.08 HRAS KRAS MAP2K1 NRAS RAF1 SOS1
34
Show member pathways
13.07 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
35
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
36
Show member pathways
13.05 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
37
Show member pathways
13.03 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
38
Show member pathways
13.02 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
39
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
40
Show member pathways
12.99 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
41
Show member pathways
12.98 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
42
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
43
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
44
Show member pathways
12.93 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
45 12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
46 12.93 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
47
Show member pathways
12.9 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
48
Show member pathways
12.89 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
49
Show member pathways
12.88 HRAS IGF1 MAP2K1 MAP2K2 PTPN11 RAF1
50
Show member pathways
12.87 HRAS KRAS NRAS PTPN11 SOS1

GO Terms for Noonan Syndrome 1

Cellular components related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
2 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

Biological processes related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.96 MAP2K1 NF1 PTPN11 RAF1
2 Fc-epsilon receptor signaling pathway GO:0038095 9.92 HRAS KRAS NRAS SOS1
3 leukocyte migration GO:0050900 9.91 HRAS KRAS NRAS PTPN11 SOS1
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.88 HRAS KRAS NRAS RAF1
5 activation of MAPK activity GO:0000187 9.86 IGF1 MAP2K1 MAP2K2 PTPN11
6 positive regulation of MAPK cascade GO:0043410 9.85 HRAS IGF1 IGFBP3
7 axon guidance GO:0007411 9.85 HRAS KRAS NRAS PTPN11 SOS1
8 regulation of Rho protein signal transduction GO:0035023 9.84 RAF1 SOS1 SOS2
9 negative regulation of signal transduction GO:0009968 9.82 BRAF IGFBP3 RAF1
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 BRAF HRAS MAP2K1 MAP2K2 PTPN11 RAF1
11 visual learning GO:0008542 9.77 BRAF KRAS NF1
12 thymus development GO:0048538 9.77 BRAF MAP2K1 RAF1
13 ERK1 and ERK2 cascade GO:0070371 9.72 IGF1 MAP2K1 MAP2K2
14 thyroid gland development GO:0030878 9.7 BRAF MAP2K1 RAF1
15 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.67 IGF1 IGFBP3
16 regulation of synaptic transmission, GABAergic GO:0032228 9.67 KRAS NF1
17 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 HRAS KRAS NF1
18 ERBB2 signaling pathway GO:0038128 9.67 HRAS KRAS NRAS SOS1
19 response to isolation stress GO:0035900 9.66 HRAS KRAS
20 regulation of stress-activated MAPK cascade GO:0032872 9.65 MAP2K1 MAP2K2
21 positive regulation of Ras protein signal transduction GO:0046579 9.65 HRAS IGF1 SHOC2
22 MAPK cascade GO:0000165 9.65 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
23 Bergmann glial cell differentiation GO:0060020 9.64 MAP2K1 PTPN11
24 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.64 MAP2K1 MAP2K2
25 positive regulation of small GTPase mediated signal transduction GO:0051057 9.63 SOS1 SOS2
26 regulation of early endosome to late endosome transport GO:2000641 9.63 MAP2K1 MAP2K2
27 regulation of axon regeneration GO:0048679 9.62 BRAF MAP2K1
28 proteolysis in other organism GO:0035897 9.61 MAP2K1 MAP2K2
29 face development GO:0060324 9.61 BRAF MAP2K1 RAF1
30 regulation of Golgi inheritance GO:0090170 9.58 MAP2K1 MAP2K2
31 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 PTPN11 RAF1 SOS1
32 cerebellar cortex formation GO:0021697 9.57 MAP2K1 PTPN11
33 epidermal growth factor receptor signaling pathway GO:0007173 9.55 HRAS KRAS NRAS PTPN11 SOS1
34 forebrain astrocyte development GO:0021897 9.54 KRAS NF1
35 Ras protein signal transduction GO:0007265 9.28 HRAS IGF1 KRAS NF1 NRAS RIT1
36 negative regulation of cell proliferation GO:0008285 10.05 HRAS IGFBP3 MAP2K1 NF1 RAF1
37 signal transduction GO:0007165 10.03 BRAF HRAS IGF1 KRAS MAP2K1 NF1
38 positive regulation of gene expression GO:0010628 10.01 BRAF HRAS IGF1 KRAS MAP2K1

Molecular functions related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.67 KAT6B KRAS NRAS RRAS
2 GTP binding GO:0005525 9.55 HRAS KRAS NRAS RIT1 RRAS
3 GDP binding GO:0019003 9.43 HRAS KRAS RRAS
4 GTPase activity GO:0003924 9.35 HRAS KRAS NRAS RIT1 RRAS
5 nucleotide binding GO:0000166 9.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
6 protein binding GO:0005515 10.25 BRAF HRAS IGF1 IGFBP3 KAT6B KRAS

Sources for Noonan Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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