NS1
MCID: NNN008
MIFTS: 67

Noonan Syndrome 1 (NS1) malady

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

Aliases & Descriptions for Noonan Syndrome 1:

Name: Noonan Syndrome 1 54 12 50 66 29 13
Noonan Syndrome 12 71 23 50 24 25 56 66 52 42 14 69
Female Pseudo-Turner Syndrome 50 25 66
Male Turner Syndrome 50 25 66
Turner Phenotype with Normal Karyotype 25 66
Pseudo-Ullrich-Turner Syndrome 50 25
Ullrich-Noonan Syndrome 50 25
Noonan-Ehmke Syndrome 50 25
Noonan's Syndrome 25 29
Ns1 12 66
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 66
Noonan Syndrome with Pigmented Villonodular Synovitis 66
Noonan-Like/multiple Giant Cell Lesion Syndrome 66
Turner Syndrome in Female with X Chromosome 25
Turner's Phenotype, Karyotype Normal 12
Pterygium Colli Syndrome 66
Familial Turner Syndrome 25
Turner Syndrome, Male 69
Turner-Like Syndrome 25
Ns 25

Characteristics:

Orphanet epidemiological data:

56
noonan syndrome
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
noonan syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous


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:



External Ids:

OMIM 54 163950
Disease Ontology 12 DOID:0060578 DOID:3490
ICD10 33 Q87.1
MeSH 42 D009634
Orphanet 56 ORPHA648
UMLS via Orphanet 70 C0028326
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 43 D009634
UMLS 69 C0028326

Summaries for Noonan Syndrome 1

OMIM : 54 Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide... (163950) more...

MalaCards based summary : Noonan Syndrome 1, also known as noonan syndrome, is related to noonan-like/multiple giant cell lesion syndrome and noonan syndrome with multiple lentigines, 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 Signaling by GPCR and Innate Immune System. The drugs Simvastatin and Ivermectin have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cardiovascular system

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

Genetics Home Reference : 25 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.

NIH Rare Diseases : 50 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, 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 an affected 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: 6/28/2016

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after... more...

GeneReviews: NBK1124

Related Diseases for Noonan Syndrome 1

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 6 Noonan Syndrome 8
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 7 Noonan Syndrome 3
Noonan Syndrome 9 Noonan Syndrome 10
Noonan Syndrome 2 Braf-Related Noonan Syndrome
Kras-Related Noonan Syndrome Lztr1-Related Noonan Syndrome
Map2k1-Related Noonan Syndrome Nras-Related Noonan Syndrome
Ptpn11-Related Noonan Syndrome Raf1-Related Noonan Syndrome
Rit1-Related Noonan Syndrome Sos1-Related Noonan Syndrome
Sos2-Related Noonan Syndrome

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

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 noonan-like/multiple giant cell lesion syndrome 12.7
2 noonan syndrome with multiple lentigines 12.2
3 neurofibromatosis-noonan syndrome 12.2
4 escobar syndrome 11.2
5 ptpn11-related noonan syndrome 10.8
6 cardiofaciocutaneous syndrome 10.7
7 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.7
8 noonan syndrome 3 10.7
9 noonan syndrome 9 10.7
10 noonan syndrome 10 10.7
11 leukemia, acute myelomonocytic, somatic, somatic 10.7
12 noonan syndrome 8 10.7
13 influenza 10.6
14 polg-related disorders 10.4 BRAF PTPN11 RAF1
15 erythrocyte lactate transporter defect 10.4 HRAS KRAS NRAS
16 melanocytic nevus syndrome, congenital, somatic 10.3 HRAS KRAS NRAS
17 growth hormone insensitivity with immunodeficiency 10.3 MAP2K2 NF1 PTPN11
18 malignant skin fibrous histiocytoma 10.3 HRAS KRAS
19 parotid gland adenoid cystic carcinoma 10.3 HRAS MAP2K1 NRAS
20 ossifying fibromyxoid tumor 10.3 HRAS KRAS NRAS
21 familial hyperaldosteronism 10.3 HRAS KRAS NRAS
22 brachial plexus neuropathy 10.3 HRAS KRAS RAF1
23 spongiotic dermatitis 10.3 HRAS KRAS MAP2K1 NRAS
24 microtia, hearing impairment, and cleft palate 10.3 GHR IGF1 IGFBP3
25 sohval soffer syndrome 10.3 IGF1 IGFBP3
26 non-distal monosomy 10q 10.3 BRAF HRAS KRAS NRAS
27 epileptic encephalopathy, early infantile, 24 10.3 GHR IGF1 IGFBP3
28 protein s deficiency 10.3 GHR IGF1 IGFBP3
29 seborrheic dermatitis 10.3 HRAS NF1 PTPN11 RASA2
30 congenital symblepharon 10.3 HRAS IGF1 IGFBP3 KRAS
31 encephalitis 10.3
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.3 BRAF HRAS MAP2K1 NRAS
33 deafness, autosomal dominant 25 10.3 GHR IGF1
34 gynandroblastoma 10.2 GHR IGF1 IGFBP3
35 nephrolithiasis 10.2 HRAS NF1 NRAS PTPN11 SHOC2
36 oral squamous cell carcinoma 10.2 BRAF HRAS KRAS
37 pseudomonas stutzeri infections 10.2 BRAF KRAS NRAS PTPN11 RAF1 RIT1
38 hyperproinsulinemia 10.2 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
39 rdh12-related leber congenital amaurosis 10.2 BRAF KRAS NRAS PTPN11 RAF1 RIT1
40 skin epithelioid hemangioma 10.2 BRAF HRAS MAP2K1 NF1 PTPN11 RAF1
41 vestibular gland benign neoplasm 10.2 HRAS IGF1 KRAS
42 medullary cystic kidney disease 1 10.2 HRAS KRAS NF1 NRAS PTPN11 SHOC2
43 glomeruloid hemangioma 10.2 BRAF HRAS KRAS NF1 NRAS PTPN11
44 avian influenza 10.2
45 peritoneal mesothelioma 10.1 BRAF HRAS KRAS NRAS
46 syndactyly-polydactyly-earlobe syndrome 10.1 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
47 japanese encephalitis 10.1
48 chromosome 15q11-q13 duplication syndrome 10.1 BRAF HRAS MAP2K1 NF1 PTPN11 RAF1
49 leopard syndrome 3 10.1 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
50 west nile virus 10.0

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 by clinical synopsis from OMIM:

163950

Clinical features from OMIM:

163950

Human phenotypes related to Noonan Syndrome 1:

56 32 (show top 50) (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 pectus excavatum 56 32 Very frequent (99-80%) HP:0000767
4 high palate 56 32 Very frequent (99-80%) HP:0000218
5 ptosis 56 32 Very frequent (99-80%) HP:0000508
6 nystagmus 56 32 Occasional (29-5%) HP:0000639
7 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
8 dysarthria 56 32 Very frequent (99-80%) HP:0001260
9 scoliosis 56 32 Frequent (79-30%) HP:0002650
10 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
11 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
12 pectus carinatum 56 32 Very frequent (99-80%) HP:0000768
13 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
14 coarse hair 56 32 Frequent (79-30%) HP:0002208
15 short stature 56 32 Very frequent (99-80%) HP:0004322
16 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
17 arrhythmia 56 32 Frequent (79-30%) HP:0011675
18 micrognathia 56 32 Very frequent (99-80%) HP:0000347
19 abnormal bleeding 56 32 Frequent (79-30%) HP:0001892
20 aplasia/hypoplasia of the abdominal wall musculature 56 32 Very frequent (99-80%) HP:0010318
21 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
22 strabismus 56 32 Frequent (79-30%) HP:0000486
23 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
24 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
25 lymphedema 56 32 Occasional (29-5%) HP:0001004
26 enlarged thorax 56 32 Very frequent (99-80%) HP:0100625
27 low posterior hairline 56 32 Frequent (79-30%) HP:0002162
28 wide intermamillary distance 56 32 Very frequent (99-80%) HP:0006610
29 webbed neck 56 32 Very frequent (99-80%) HP:0000465
30 thickened nuchal skin fold 56 32 Very frequent (99-80%) HP:0000474
31 abnormal dermatoglyphics 56 32 Frequent (79-30%) HP:0007477
32 cystic hygroma 56 32 Very frequent (99-80%) HP:0000476
33 melanocytic nevus 56 32 Occasional (29-5%) HP:0000995
34 hypogonadotrophic hypogonadism 56 32 Very frequent (99-80%) HP:0000044
35 abnormal hair quantity 56 32 Frequent (79-30%) HP:0011362
36 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
37 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
38 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
39 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
40 abnormality of the pulmonary valve 56 32 Frequent (79-30%) HP:0001641
41 abnormality of the spleen 56 32 Frequent (79-30%) HP:0001743
42 abnormal platelet function 56 32 Frequent (79-30%) HP:0011869
43 high forehead 56 32 Very frequent (99-80%) HP:0000348
44 radioulnar synostosis 56 32 Occasional (29-5%) HP:0002974
45 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
46 proptosis 56 32 Very frequent (99-80%) HP:0000520
47 triangular face 56 32 Very frequent (99-80%) HP:0000325
48 thickened helices 56 32 Very frequent (99-80%) HP:0000391
49 abnormality of coagulation 56 32 Frequent (79-30%) HP:0001928
50 pulmonary artery stenosis 56 32 Very frequent (99-80%) HP:0004415

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

26
id 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 A2ML1 NRAS
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 A2ML1 NF1 NRAS RASA2 RAF1
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 HRAS KRAS NF1 NRAS RAF1
21 Decreased viability GR00221-A-2 10.13 HRAS KRAS NF1 RAF1
22 Decreased viability GR00221-A-3 10.13 HRAS NRAS
23 Decreased viability GR00221-A-4 10.13 NF1
24 Decreased viability GR00231-A 10.13 RAF1
25 Decreased viability GR00301-A 10.13 KRAS RAF1
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 RAF1 SOS1 BRAF NF1 PTPN11
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 BRAF PTPN11
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
51 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.83 NF1
52 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.83 PTPN11
53 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.83 NF1
54 Decreased cell migration GR00055-A-1 9.8 BRAF HRAS KRAS MAP2K2 NF1 SOS1
55 Increased cell migration GR00055-A-3 9.35 BRAF HRAS KRAS NF1 SOS1

MGI Mouse Phenotypes related to Noonan Syndrome 1:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 NF1 NRAS PTPN11 RAF1 SHOC2 SOS1
2 growth/size/body region MP:0005378 10.37 BRAF GHR HRAS IGF1 IGFBP3 KRAS
3 homeostasis/metabolism MP:0005376 10.37 BRAF GHR HRAS IGF1 IGFBP3 KRAS
4 cellular MP:0005384 10.35 MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1
5 endocrine/exocrine gland MP:0005379 10.35 BRAF GHR HRAS IGF1 IGFBP3 KRAS
6 integument MP:0010771 10.32 PTPN11 RAF1 SHOC2 SOS1 BRAF GHR
7 mortality/aging MP:0010768 10.28 BRAF GHR HRAS IGF1 KRAS LZTR1
8 craniofacial MP:0005382 10.27 KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11
9 embryo MP:0005380 10.25 MAP2K1 NF1 NRAS PTPN11 RAF1 SHOC2
10 digestive/alimentary MP:0005381 10.16 BRAF KRAS MAP2K1 MAP2K2 NF1 NRAS
11 hearing/vestibular/ear MP:0005377 10.11 BRAF IGF1 KRAS MAP2K1 MAP2K2 NF1
12 normal MP:0002873 10.1 RAF1 SHOC2 SOS2 BRAF HRAS IGF1
13 neoplasm MP:0002006 10.07 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
14 liver/biliary system MP:0005370 10.06 BRAF GHR IGFBP3 KRAS NF1 NRAS
15 muscle MP:0005369 10.06 BRAF GHR IGF1 IGFBP3 KRAS NF1
16 respiratory system MP:0005388 9.76 BRAF HRAS IGF1 KRAS NF1 PTPN11
17 pigmentation MP:0001186 9.73 BRAF IGFBP3 KRAS NF1 NRAS PTPN11
18 skeleton MP:0005390 9.7 BRAF GHR HRAS IGF1 KRAS MAP2K1
19 vision/eye MP:0005391 9.28 RAF1 SOS1 BRAF KRAS MAP2K1 MAP2K2

Drugs & Therapeutics for Noonan Syndrome 1

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

(show all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2
Ivermectin Approved, Vet_approved Phase 2, Phase 3 70288-86-7 6474909 46936176
3 Hormone Antagonists Phase 3
4 Hormones Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
7 Hypolipidemic Agents Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Anticholesteremic Agents Phase 3
10 Lipid Regulating Agents Phase 3
11 Antimetabolites Phase 3
12 Antiparasitic Agents Phase 2, Phase 3
13
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
14
Lenograstim Approved Phase 2 135968-09-1
15
Zinc Approved Phase 2 7440-66-6 32051 23994
16 mometasone furoate Phase 2 83919-23-7
17 insulin Phase 2
18
Histamine Phosphate Phase 2 51-74-1 65513
19 Analgesics Phase 2
20 Adjuvants, Immunologic Phase 2
21 Neurotransmitter Agents Phase 2
22 Analgesics, Non-Narcotic Phase 2
23 Histamine Antagonists Phase 2
24 Histamine H1 Antagonists Phase 2
25 Histamine H1 Antagonists, Non-Sedating Phase 2
26 Dermatologic Agents Phase 2
27 Olopatadine Hydrochloride Phase 2
28 Peripheral Nervous System Agents Phase 2
29 Anti-Allergic Agents Phase 2
30 Hypoglycemic Agents Phase 2
31 Insulin, Globin Zinc Phase 2
32 Anti-Inflammatory Agents Phase 2
33 Anti-Inflammatory Agents, Non-Steroidal Phase 2
34 Antirheumatic Agents Phase 2
35 Mitogens Phase 2
36
Aluminum hydroxide Approved Phase 1 21645-51-2
37 Aluminum sulfate Phase 1
38 Vaccines Phase 1
39 monensin

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3
2 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3
3 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3
4 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3
5 Efficacy and Safety of Ivermectin Against Dengue Infection Recruiting NCT02045069 Phase 2, Phase 3
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
7 G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical Response Completed NCT00397423 Phase 2
8 To Study GSP 301 in Patients With Seasonal Allergic Rhinitis Completed NCT02318303 Phase 2
9 Celgosivir as a Treatment Against Dengue Completed NCT01619969 Phase 1, Phase 2
10 Celgosivir or Modipafant as Treatment for Adult Participants With Uncomplicated Dengue Fever in Singapore Not yet recruiting NCT02569827 Phase 1, Phase 2
11 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
12 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
13 Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule Study Recruiting NCT02937233 Phase 1
14 Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, Taiwan Unknown status NCT01163123
15 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
16 Dengue Virus NS1 Antigen (Bio-Rad) Clinical Protocol Completed NCT01226173
17 Specificity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02107677
18 Diagnosis and Characterization of Dengue Fever in Children Completed NCT00946218
19 Laboratory Diagnosis and Prognosis of Severe Dengue Completed NCT01421732
20 Comparative Trial in Compression Therapy in Leg Lymphedema Completed NCT00665379
21 Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128
22 Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue Diagnosis Recruiting NCT02435615
23 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
24 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 Recruiting NCT02766088
25 Sensitivity Study of Diagnostic for Early Detection of Dengue Infection Active, not recruiting NCT02059122
26 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Not yet recruiting NCT02486731

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:

id Genetic test Affiliating Genes
1 Noonan Syndrome 1 29
2 Noonan Syndrome 29 24 SOS1

Anatomical Context for Noonan Syndrome 1

MalaCards organs/tissues related to Noonan Syndrome 1:

39
Heart, Skin, Eye, Spleen

Publications for Noonan Syndrome 1

Variations for Noonan Syndrome 1

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

66 (show all 39)
id 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 rs28933387
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
33 PTPN11 p.Pro495Ser VAR_071706 rs397507539
34 PTPN11 p.Gln514Glu VAR_076499 rs397507549
35 PTPN11 p.Leu261Phe VAR_078101
36 PTPN11 p.Leu261His VAR_078102
37 PTPN11 p.Leu262Phe VAR_078103
38 PTPN11 p.Leu262Arg VAR_078104
39 PTPN11 p.Arg265Gln VAR_078105

ClinVar genetic disease variations for Noonan Syndrome 1:

6 (show top 50) (show all 145)
id Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic/Likely pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
2 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
3 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh37 Chromosome 2, 39278352: 39278352
4 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh37 Chromosome 2, 39278343: 39278343
5 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh37 Chromosome 2, 39249915: 39249915
6 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh37 Chromosome 2, 39249913: 39249913
7 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh37 Chromosome 2, 39250275: 39250275
8 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
9 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
10 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
11 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
12 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
13 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
14 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh37 Chromosome 12, 112888166: 112888166
15 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic/Likely pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
16 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh37 Chromosome 12, 112926884: 112926884
17 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
18 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
19 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 GRCh37 Chromosome 12, 112915455: 112915455
20 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
21 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
22 PTPN11 NM_002834.4(PTPN11): c.1232C> T (p.Thr411Met) single nucleotide variant Pathogenic rs121918467 GRCh37 Chromosome 12, 112924286: 112924286
23 PTPN11 NM_002834.4(PTPN11): c.1529A> G (p.Gln510Arg) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
24 PTPN11 NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del) deletion Pathogenic rs80338836 GRCh37 Chromosome 12, 112888163: 112888165
25 PTPN11 NM_002834.4(PTPN11): c.5C> T (p.Thr2Ile) single nucleotide variant Pathogenic rs267606990 GRCh37 Chromosome 12, 112856920: 112856920
26 NRAS NM_002524.4(NRAS): c.149C> T (p.Thr50Ile) single nucleotide variant Pathogenic rs267606921 GRCh38 Chromosome 1, 114713941: 114713941
27 NRAS NM_002524.4(NRAS): c.179G> A (p.Gly60Glu) single nucleotide variant Pathogenic rs267606920 GRCh37 Chromosome 1, 115256532: 115256532
28 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
29 RAF1 NM_002880.3(RAF1): c.781C> T (p.Pro261Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh37 Chromosome 3, 12645688: 12645688
30 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic/Likely pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
31 BRAF NM_004333.4(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic/Likely pathogenic rs121913369 GRCh37 Chromosome 7, 140453146: 140453146
32 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic/Likely pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
33 BRAF NM_004333.4(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
34 BRAF NM_004333.4(BRAF): c.722C> G (p.Thr241Arg) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
35 BRAF NM_004333.4(BRAF): c.1593G> C (p.Trp531Cys) single nucleotide variant Pathogenic rs606231228 GRCh38 Chromosome 7, 140777013: 140777013
36 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
37 RAF1 NM_002880.3(RAF1): c.524A> G (p.His175Arg) single nucleotide variant Pathogenic rs397516822 GRCh38 Chromosome 3, 12608823: 12608823
38 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254
39 KRAS NM_004985.4(KRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs104894366 GRCh37 Chromosome 12, 25398218: 25398218
40 KRAS NM_004985.4(KRAS): c.458A> G (p.Asp153Gly) single nucleotide variant Pathogenic/Likely pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
41 NRAS NM_002524.4(NRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
42 PTPN11 NM_002834.4(PTPN11): c.124A> G (p.Thr42Ala) single nucleotide variant Pathogenic rs397507501 GRCh37 Chromosome 12, 112884189: 112884189
43 PTPN11 NM_002834.4(PTPN11): c.155C> T (p.Thr52Ile) single nucleotide variant Likely pathogenic rs397507503 GRCh37 Chromosome 12, 112888139: 112888139
44 PTPN11 NM_002834.4(PTPN11): c.172A> C (p.Asn58His) single nucleotide variant Pathogenic rs397507505 GRCh37 Chromosome 12, 112888156: 112888156
45 PTPN11 NM_002834.4(PTPN11): c.172A> G (p.Asn58Asp) single nucleotide variant Pathogenic rs397507505 GRCh37 Chromosome 12, 112888156: 112888156
46 PTPN11 NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys) single nucleotide variant Pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
47 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
48 PTPN11 NM_002834.4(PTPN11): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic/Likely pathogenic rs397507507 GRCh37 Chromosome 12, 112888162: 112888162
49 PTPN11 NM_002834.4(PTPN11): c.179G> C (p.Gly60Ala) single nucleotide variant Pathogenic rs397507509 GRCh37 Chromosome 12, 112888163: 112888163
50 PTPN11 NM_002834.4(PTPN11): c.205G> C (p.Glu69Gln) single nucleotide variant Pathogenic rs397507511 GRCh37 Chromosome 12, 112888189: 112888189

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 GeneCards Suite gene sharing:

(show top 50) (show all 197)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.36 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
2
Show member pathways
14.2 BRAF GHR HRAS KRAS MAP2K1 MAP2K2
3
Show member pathways
14.04 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
4
Show member pathways
14.04 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
5
Show member pathways
13.92 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
6
Show member pathways
13.9 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
7
Show member pathways
13.85 BRAF GHR HRAS KRAS MAP2K1 MAP2K2
8
Show member pathways
13.79 BRAF GHR HRAS IGF1 KRAS MAP2K1
9
Show member pathways
13.76 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
10
Show member pathways
13.76 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11
Show member pathways
13.63 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
12
Show member pathways
13.63 BRAF GHR HRAS KRAS MAP2K1 MAP2K2
13
Show member pathways
13.54 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
14
Show member pathways
13.53 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
15
Show member pathways
13.48 BRAF GHR HRAS IGF1 KRAS MAP2K1
16
Show member pathways
13.46 HRAS IGF1 KRAS NRAS PTPN11 RAF1
17
Show member pathways
13.34 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
18
Show member pathways
13.31 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
19
Show member pathways
13.31 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
20
Show member pathways
13.28 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
21
Show member pathways
13.23 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
22
Show member pathways
13.19 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
23
Show member pathways
13.19 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
24
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
25
Show member pathways
13.17 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
26
Show member pathways
13.16 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
27
Show member pathways
13.14 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
28
Show member pathways
13.14 BRAF HRAS KRAS MAP2K1 NRAS RAF1
29
Show member pathways
13.12 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
30
Show member pathways
13.1 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
31
Show member pathways
13.1 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
32
Show member pathways
13.09 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
33
Show member pathways
13.09 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
34
Show member pathways
13.08 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
35
Show member pathways
13.08 HRAS KRAS MAP2K1 NRAS RAF1 SOS1
36
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
37
Show member pathways
13.05 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
38
Show member pathways
12.99 BRAF GHR HRAS IGF1 IGFBP3 KRAS
39
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
40 12.97 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
41 12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
42
Show member pathways
12.93 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
43
Show member pathways
12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
44 12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
45
Show member pathways
12.9 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
46
Show member pathways
12.87 HRAS KRAS NRAS PTPN11 SOS1
47
Show member pathways
12.87 HRAS IGF1 MAP2K1 MAP2K2 PTPN11 RAF1
48 12.87 GHR HRAS IGF1 KRAS MAP2K1 MAP2K2
49
Show member pathways
12.86 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
50
Show member pathways
12.85 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2

GO Terms for Noonan Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 BRAF GHR HRAS KRAS MAP2K1 MAP2K2
2 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
3 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 40)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.97 MAP2K1 NF1 PTPN11 RAF1
2 Fc-epsilon receptor signaling pathway GO:0038095 9.93 HRAS KRAS NRAS SOS1
3 leukocyte migration GO:0050900 9.93 HRAS KRAS NRAS PTPN11 SOS1
4 axon guidance GO:0007411 9.91 HRAS KRAS NRAS PTPN11 SOS1
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.89 HRAS KRAS NRAS RAF1
6 small GTPase mediated signal transduction GO:0007264 9.88 HRAS KRAS NRAS RIT1 SOS1 SOS2
7 positive regulation of MAPK cascade GO:0043410 9.85 HRAS IGF1 IGFBP3
8 regulation of Rho protein signal transduction GO:0035023 9.85 RAF1 SOS1 SOS2
9 negative regulation of signal transduction GO:0009968 9.83 BRAF IGFBP3 RAF1
10 visual learning GO:0008542 9.79 BRAF KRAS NF1
11 thymus development GO:0048538 9.78 BRAF MAP2K1 RAF1
12 activation of MAPK activity GO:0000187 9.77 GHR IGF1 MAP2K1 MAP2K2 PTPN11
13 regulation of multicellular organism growth GO:0040014 9.75 GHR IGF1 PTPN11
14 ERK1 and ERK2 cascade GO:0070371 9.74 IGF1 MAP2K1 MAP2K2
15 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.73 BRAF HRAS MAP2K1 MAP2K2 PTPN11 RAF1
16 thyroid gland development GO:0030878 9.72 BRAF MAP2K1 RAF1
17 positive regulation of Ras protein signal transduction GO:0046579 9.7 HRAS IGF1 SHOC2
18 insulin-like growth factor receptor signaling pathway GO:0048009 9.68 GHR IGF1
19 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.68 IGF1 IGFBP3
20 regulation of synaptic transmission, GABAergic GO:0032228 9.68 KRAS NF1
21 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 HRAS KRAS NF1
22 response to isolation stress GO:0035900 9.66 HRAS KRAS
23 regulation of stress-activated MAPK cascade GO:0032872 9.66 MAP2K1 MAP2K2
24 Bergmann glial cell differentiation GO:0060020 9.65 MAP2K1 PTPN11
25 face development GO:0060324 9.65 BRAF MAP2K1 RAF1
26 MAPK cascade GO:0000165 9.65 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
27 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.64 MAP2K1 MAP2K2
28 positive regulation of small GTPase mediated signal transduction GO:0051057 9.64 SOS1 SOS2
29 regulation of axon regeneration GO:0048679 9.63 BRAF MAP2K1
30 neurotrophin TRK receptor signaling pathway GO:0048011 9.63 PTPN11 RAF1 SOS1
31 regulation of early endosome to late endosome transport GO:2000641 9.62 MAP2K1 MAP2K2
32 proteolysis in other organism GO:0035897 9.62 MAP2K1 MAP2K2
33 ERBB2 signaling pathway GO:0038128 9.62 HRAS KRAS NRAS SOS1
34 regulation of Golgi inheritance GO:0090170 9.6 MAP2K1 MAP2K2
35 cerebellar cortex formation GO:0021697 9.58 MAP2K1 PTPN11
36 forebrain astrocyte development GO:0021897 9.56 KRAS NF1
37 epidermal growth factor receptor signaling pathway GO:0007173 9.55 HRAS KRAS NRAS PTPN11 SOS1
38 Ras protein signal transduction GO:0007265 9.23 HRAS IGF1 KRAS NF1 NRAS RIT1
39 signal transduction GO:0007165 10.17 BRAF HRAS IGF1 KRAS MAP2K1 NF1
40 negative regulation of cell proliferation GO:0008285 10.05 HRAS IGFBP3 MAP2K1 NF1 RAF1

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

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
2 MAP kinase kinase activity GO:0004708 8.96 MAP2K1 MAP2K2

Sources for Noonan Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....