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 57 12 53 75 29 13 6
Noonan Syndrome 57 12 76 24 53 25 59 75 37 29 55 6 44 15 73
Female Pseudo-Turner Syndrome 57 53 25 75
Male Turner Syndrome 57 53 25 75
Turner Phenotype with Normal Karyotype 57 25 75
Ns1 57 12 75
Pseudo-Ullrich-Turner Syndrome 53 25
Ullrich-Noonan Syndrome 53 25
Noonan-Ehmke Syndrome 53 25
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 75
Noonan Syndrome with Pigmented Villonodular Synovitis 75
Noonan-Like/multiple Giant Cell Lesion Syndrome 75
Turner Syndrome in Female with X Chromosome 25
Turner's Phenotype, Karyotype Normal 12
Pterygium Colli Syndrome 75
Familial Turner Syndrome 25
Syndrome, Noonan, Type 1 40
Turner Syndrome, Male 73
Turner-Like Syndrome 25
Noonan's Syndrome 25
Syndrome, Noonan 40
Ns 25

Characteristics:

Orphanet epidemiological data:

59
noonan syndrome
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to leopard syndrome


HPO:

32
noonan syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

24
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 : 53 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

MalaCards based summary : Noonan Syndrome 1, also known as noonan syndrome, is related to noonan syndrome with multiple lentigines and neurofibromatosis-noonan syndrome. 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, bone and skin, and related phenotypes are hypertelorism and pectus excavatum

OMIM : 57 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 : 75 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 : 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.

Disease Ontology : 12 A syndrome that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

Wikipedia : 76 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 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 116)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome with multiple lentigines 35.2 BRAF PTPN11 RAF1
2 neurofibromatosis-noonan syndrome 35.1 MAP2K2 NF1 PTPN11
3 noonan syndrome 3 32.8 KRAS PTPN11 SHOC2 SOS1
4 cardiofaciocutaneous syndrome 1 31.9 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
5 st. louis encephalitis 30.6 KRAS RAF1
6 noonan-like/multiple giant cell lesion syndrome 12.8
7 multiple pterygium syndrome, escobar variant 11.4
8 giant congenital nevus 11.1 HRAS NRAS
9 lentigines 11.1 BRAF PTPN11 RAF1
10 cafe-au-lait spots, multiple 11.1 NF1 SOS1
11 sigmoid neoplasm 11.1 HRAS KRAS
12 schimmelpenning-feuerstein-mims syndrome 11.1 HRAS KRAS NRAS
13 nevus, epidermal 11.1 HRAS KRAS NRAS
14 autosomal dominant café au lait spots 11.1 NF1 PTPN11
15 hypertelorism 11.0 BRAF PTPN11 RAF1
16 mucosal melanoma 11.0 BRAF NF1 NRAS
17 core binding factor acute myeloid leukemia 11.0 HRAS KRAS NRAS
18 liver angiosarcoma 11.0 HRAS KRAS NRAS
19 kyasanur forest disease 11.0 KRAS RAF1
20 skin squamous cell carcinoma 11.0 BRAF HRAS KRAS
21 ovarian melanoma 11.0 HRAS MAP2K1 NRAS
22 apocrine adenoma 11.0 HRAS KRAS
23 langerhans cell histiocytosis 11.0 BRAF MAP2K1 NRAS
24 slipped capital femoral epiphysis 11.0 IGF1 IGFBP3
25 lung benign neoplasm 11.0 HRAS KRAS RAF1
26 vulvar melanoma 11.0 HRAS NF1 NRAS
27 ovarian serous cystadenocarcinoma 11.0 BRAF HRAS NRAS
28 differentiated thyroid carcinoma 11.0 BRAF HRAS KRAS NRAS
29 colorectal adenocarcinoma 11.0 BRAF HRAS KRAS
30 benign struma ovarii 10.9 HRAS NRAS
31 renal cell carcinoma, papillary, 1 10.9 BRAF HRAS NRAS
32 acneiform dermatitis 10.9 HRAS KRAS MAP2K1 NRAS
33 myelodysplastic myeloproliferative cancer 10.9 HRAS NF1 NRAS PTPN11
34 secondary adrenal insufficiency 10.9 IGF1 IGFBP3
35 periampullary adenoma 10.9 HRAS KRAS
36 skin melanoma 10.9 BRAF HRAS MAP2K1 NRAS
37 villonodular synovitis 10.9 PTPN11 SOS1
38 cell type benign neoplasm 10.9 HRAS IGF1 KRAS
39 neurofibromatosis, type iv, of riccardi 10.9 HRAS NF1 PTPN11 RASA2
40 lung squamous cell carcinoma 10.9 BRAF HRAS KRAS PTPN11
41 cell type cancer 10.9 HRAS KRAS NRAS
42 paronychia 10.9 HRAS KRAS
43 hyperplastic polyposis syndrome 10.9 BRAF KRAS
44 endocrine gland cancer 10.8 HRAS IGFBP3 KRAS
45 noonan syndrome 2 10.8
46 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.8
47 noonan syndrome 8 10.8
48 noonan syndrome 9 10.8
49 noonan syndrome 10 10.8
50 takenouchi-kosaki syndrome 10.8

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:

57
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)

GenitourinaryInternal GenitaliaMale:
cryptorchidism
occasional hypogonadism
male infertility (in individuals with bilateral cryptorchidism)

Chest Ribs Sternum 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:

59 32 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
3 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
8 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
11 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
12 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
13 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
14 coarse hair 59 32 frequent (33%) Frequent (79-30%) HP:0002208
15 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
16 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
17 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
18 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
19 abnormal bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0001892
20 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
21 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
22 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
23 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
24 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
25 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
26 enlarged thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0100625
27 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
28 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
29 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
30 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
31 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
32 cystic hygroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000476
33 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
34 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
35 abnormal hair quantity 59 32 frequent (33%) Frequent (79-30%) HP:0011362
36 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
37 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
38 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
39 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
40 abnormality of the spleen 59 32 frequent (33%) Frequent (79-30%) HP:0001743
41 abnormal platelet function 59 32 frequent (33%) Frequent (79-30%) HP:0011869
42 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
43 radioulnar synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002974
44 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
45 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
46 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
47 thickened helices 59 32 hallmark (90%) Very frequent (99-80%) HP:0000391
48 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%) HP:0001928
49 pulmonary artery stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004415
50 aplasia of the semicircular canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0011381

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

26 (show top 50) (show all 57)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 10.38 NF1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.38 NF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.38 RASA2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.38 RASA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.38 NRAS A2ML1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 10.38 RAF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.38 A2ML1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.38 A2ML1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.38 RAF1 NRAS RASA2 A2ML1 NF1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.38 NRAS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.38 A2ML1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.38 A2ML1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.38 RAF1 NRAS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.38 RASA2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.38 RASA2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.38 RASA2 A2ML1
17 Decreased viability GR00055-A-2 10.34 HRAS KRAS
18 Decreased viability GR00106-A-0 10.34 KRAS
19 Decreased viability GR00221-A-1 10.34 RAF1 NRAS KRAS NF1 HRAS
20 Decreased viability GR00221-A-2 10.34 RAF1 KRAS NF1 HRAS
21 Decreased viability GR00221-A-3 10.34 NRAS HRAS
22 Decreased viability GR00221-A-4 10.34 NF1
23 Decreased viability GR00231-A 10.34 RAF1
24 Decreased viability GR00301-A 10.34 RAF1 KRAS
25 Decreased viability GR00381-A-1 10.34 KRAS
26 Decreased viability GR00402-S-2 10.34 RAF1 NRAS NF1 HRAS KRAS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.17 SOS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.17 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.17 RAF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.17 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.17 SOS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.17 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.17 SOS1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.17 SOS1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.17 PTPN11
36 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.17 PTPN11 SOS1 RAF1 BRAF NF1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.17 RAF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.17 RAF1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.17 BRAF
40 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.17 BRAF
41 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.17 PTPN11
42 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.17 PTPN11
43 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.17 BRAF
44 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.17 BRAF
45 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.17 BRAF
46 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.17 BRAF
47 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.17 PTPN11
48 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.17 NF1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.17 PTPN11 BRAF
50 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.17 RAF1

MGI Mouse Phenotypes related to Noonan Syndrome 1:

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

Drugs & Therapeutics for Noonan Syndrome 1

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Investigational, Vet_approved Phase 2, Phase 3 70288-86-7 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 Vaccines Phase 3,Phase 2,Phase 1
6 Hormone Antagonists Phase 3
7 Hormones Phase 3
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
9 Anticholesteremic Agents Phase 3
10 Antimetabolites Phase 3
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
12 Hypolipidemic Agents Phase 3
13 Lipid Regulating Agents Phase 3
14
Lenograstim Approved, Investigational Phase 2 135968-09-1
15
Trametinib Approved Phase 2 871700-17-3 11707110
16
Zinc Approved, Investigational Phase 2 7440-66-6 23994
17
Apaziquone Investigational Phase 1, Phase 2 114560-48-4 5813717
18 Adjuvants, Immunologic Phase 2
19 Hypoglycemic Agents Phase 2,Not Applicable
20 insulin Phase 2,Not Applicable
21 Insulin, Globin Zinc Phase 2,Not Applicable
22 Protein Kinase Inhibitors Phase 2
23 Mitogens Phase 2
24
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
25
Aluminum sulfate Approved Phase 1 10043-01-3
26 monensin Not Applicable

Interventional clinical trials:

(show all 35)
# 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 Study of a Novel Tetravalent Dengue Vaccine in Healthy Children Aged 2 to 14 Years in Asia Unknown status NCT01373281 Phase 3
3 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3 somatropin;somatropin
4 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
5 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3 somatropin;somatropin
6 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
7 Phase III Trial to Evaluate Efficacy and Safety of a Tetravalent Dengue Vaccine Recruiting NCT02406729 Phase 3
8 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
9 Celgosivir as a Treatment Against Dengue Completed NCT01619969 Phase 1, Phase 2 celgosivir;placebo
10 G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical Response Completed NCT00397423 Phase 2 Granulocyte Colony Stimulating Factor;NS
11 Synaptic Plasticity and Cognitive Function in RASopathies Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
12 Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
13 Parvovirus H-1 (ParvOryx) in Patients With Metastatic Inoperable Pancreatic Cancer Recruiting NCT02653313 Phase 1, Phase 2 Parvovirus H-1 (H-1PV)
14 Safety and Immunogenicity of Different Schedules of Takeda's Tetravalent Dengue Vaccine Candidate (TDV) in Healthy Participants Active, not recruiting NCT02302066 Phase 2 TDV Placebo
15 Pharmacokinetics and Pharmacodynamics of Ivermectin in Pediatric Dengue Patients Not yet recruiting NCT03432442 Phase 2 Ivermectin
16 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
17 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
18 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
19 Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule Study Active, not recruiting NCT02937233 Phase 1
20 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731
21 Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, Taiwan Unknown status NCT01163123
22 Dengue Virus NS1 Antigen (Bio-Rad) Clinical Protocol Completed NCT01226173
23 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316 Not Applicable
24 Sensitivity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02059122
25 Specificity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02107677
26 Diagnosis and Characterization of Dengue Fever in Children Completed NCT00946218
27 Laboratory Diagnosis and Prognosis of Severe Dengue Completed NCT01421732
28 Association of Host Genetics With Vaccine Efficacy and Study of Immune Correlates of Risk From a Tetravalent Dengue Vaccine Completed NCT02827162
29 Comparative Trial in Compression Therapy in Leg Lymphedema Completed NCT00665379 Not Applicable
30 Long-Term Study of Hospitalized Dengue & Safety in Thai Children Included in a Tetravalent Dengue Vaccine Efficacy Study Completed NCT01983553
31 Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
32 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
33 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 Not Applicable
34 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin
35 Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue Diagnosis Terminated NCT02435615 Not Applicable

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 29 BRAF MAP2K1 PTPN11
2 Noonan Syndrome 29 MAP2K1 PTPN11

Anatomical Context for Noonan Syndrome 1

MalaCards organs/tissues related to Noonan Syndrome 1:

41
Heart, Bone, Skin, Testes, Brain, Eye, Spleen

Publications for Noonan Syndrome 1

Articles related to Noonan Syndrome 1:

(show top 50) (show all 610)
# Title Authors Year
1
Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome. ( 29232041 )
2018
2
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. ( 29670795 )
2018
3
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. ( 29271604 )
2018
4
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
5
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. ( 29959388 )
2018
6
Lymphangioma circumscriptum der Vulva bei einer Patientin mit Noonan-Syndrom. ( 29314699 )
2018
7
Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome. ( 27878339 )
2017
8
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. ( 28074573 )
2017
9
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. ( 28582432 )
2017
10
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. ( 28607217 )
2017
11
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. ( 28911943 )
2017
12
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome. ( 29301184 )
2017
13
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death. ( 28347726 )
2017
14
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. ( 27868344 )
2017
15
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature. ( 28328117 )
2017
16
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. ( 28971455 )
2017
17
Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7. ( 28084675 )
2017
18
Elucidation of<i>MRAS</i>-mediated Noonan syndrome with cardiac hypertrophy. ( 28289718 )
2017
19
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. ( 28681392 )
2017
20
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. ( 28928975 )
2017
21
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. ( 28098151 )
2017
22
Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome. ( 28804206 )
2017
23
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ( 28483241 )
2017
24
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. ( 27238887 )
2016
25
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. ( 26757980 )
2016
26
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. ( 27109146 )
2016
27
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ( 27348588 )
2016
28
Myocardial fragmentation associated with disruption of the Z-band in hypertrophic cardiomyopathy in Noonan syndrome. ( 27216919 )
2016
29
Pragmatic language impairment in children with Noonan syndrome. ( 27348294 )
2016
30
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome. ( 28018461 )
2016
31
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. ( 26714497 )
2016
32
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. ( 25959749 )
2016
33
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. ( 26758488 )
2016
34
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. ( 26518681 )
2016
35
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26952712 )
2016
36
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. ( 27101134 )
2016
37
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. ( 26686981 )
2016
38
Recurrent SDSE bacteraemia resulting in streptococcal toxic shock syndrome in a patient with Noonan syndrome. ( 27485878 )
2016
39
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. ( 27264673 )
2016
40
Elevated calcium transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan Syndrome with Multiple Lentigines. ( 25724491 )
2015
41
Autoimmune liver disease in Noonan Syndrome. ( 25595571 )
2015
42
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26337637 )
2015
43
Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome. ( 25585602 )
2015
44
Transcatheter closure of atrial septal defect in a patient with Noonan syndrome after corrective surgery. ( 26226731 )
2015
45
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. ( 26286251 )
2015
46
Prolapse of all cardiac valves in Noonan syndrome. ( 25716036 )
2015
47
Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report. ( 25575339 )
2015
48
External ear anomalies and hearing impairment in Noonan Syndrome. ( 25862627 )
2015
49
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
50
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. ( 25804457 )
2015

Variations for Noonan Syndrome 1

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

75 (show all 38)
# 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.Thr59Ala VAR_066060 rs886043790
32 PTPN11 p.Pro495Ser VAR_071706 rs397507539
33 PTPN11 p.Gln514Glu VAR_076499 rs397507549
34 PTPN11 p.Leu261Phe VAR_078101 rs397507525
35 PTPN11 p.Leu261His VAR_078102 rs765642157
36 PTPN11 p.Leu262Phe VAR_078103
37 PTPN11 p.Leu262Arg VAR_078104 rs397507526
38 PTPN11 p.Arg265Gln VAR_078105 rs376607329

ClinVar genetic disease variations for Noonan Syndrome 1:

6
(show top 50) (show all 994)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
2 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh38 Chromosome 10, 110964362: 110964362
3 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
4 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
5 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
6 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh38 Chromosome 12, 25227351: 25227351
7 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
8 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh38 Chromosome 12, 25245345: 25245345
9 KRAS NM_004985.4(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh37 Chromosome 12, 25398304: 25398304
10 KRAS NM_004985.4(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh38 Chromosome 12, 25245370: 25245370
11 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
12 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh38 Chromosome 12, 25245372: 25245372
13 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh37 Chromosome 2, 39278352: 39278352
14 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh38 Chromosome 2, 39051211: 39051211
15 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh37 Chromosome 2, 39278343: 39278343
16 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh38 Chromosome 2, 39051202: 39051202
17 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh37 Chromosome 2, 39249915: 39249915
18 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh38 Chromosome 2, 39022774: 39022774
19 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh37 Chromosome 2, 39249913: 39249913
20 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh38 Chromosome 2, 39022772: 39022772
21 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh37 Chromosome 2, 39250275: 39250275
22 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh38 Chromosome 2, 39023134: 39023134
23 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
24 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
25 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
26 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
27 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
28 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
29 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
30 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
31 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
32 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh38 Chromosome 12, 112473023: 112473023
33 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
34 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh38 Chromosome 12, 112450364: 112450364
35 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh37 Chromosome 12, 112888166: 112888166
36 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh38 Chromosome 12, 112450362: 112450362
37 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
38 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
39 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh37 Chromosome 12, 112926884: 112926884
40 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh38 Chromosome 12, 112489080: 112489080
41 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
42 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
43 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
44 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh38 Chromosome 12, 112450398: 112450398
45 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 GRCh37 Chromosome 12, 112915455: 112915455
46 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 GRCh38 Chromosome 12, 112477651: 112477651
47 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
48 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh38 Chromosome 12, 112450406: 112450406
49 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
50 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416

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:

37
# 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 209)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.37 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
2
Show member pathways
14.18 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
3
Show member pathways
14.07 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
4
Show member pathways
14.06 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
5
Show member pathways
13.93 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
6
Show member pathways
13.92 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
7
Show member pathways
13.87 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
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
13.76 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
11
Show member pathways
13.66 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
12
Show member pathways
13.63 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
13
Show member pathways
13.58 HRAS IGF1 KRAS NRAS RAF1 RRAS
14
Show member pathways
13.57 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
15
Show member pathways
13.55 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
16
Show member pathways
13.46 HRAS IGF1 KRAS NRAS PTPN11 RAF1
17
Show member pathways
13.36 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
18
Show member pathways
13.34 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
19
Show member pathways
13.33 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
20
Show member pathways
13.31 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
21
Show member pathways
13.27 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
22
Show member pathways
13.26 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
23
Show member pathways
13.23 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
24
Show member pathways
13.23 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
25
Show member pathways
13.21 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
26
Show member pathways
13.2 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
27
Show member pathways
13.2 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
28
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
29
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 NRAS RAF1
30
Show member pathways
13.16 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
31
Show member pathways
13.16 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
32
Show member pathways
13.16 BRAF HRAS IGF1 IGFBP3 KRAS MAP2K1
33 13.14 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
34
Show member pathways
13.11 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
35
Show member pathways
13.11 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
36
Show member pathways
13.08 HRAS KRAS MAP2K1 NRAS RAF1 SOS1
37
Show member pathways
13.08 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
38
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
39
Show member pathways
13.07 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
40
Show member pathways
13.06 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
41
Show member pathways
13.05 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2
42
Show member pathways
13.05 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
43
Show member pathways
13.03 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
44
Show member pathways
12.99 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2
45
Show member pathways
12.98 HRAS KRAS NRAS PTPN11 SOS1
46
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
47
Show member pathways
12.98 HRAS IGF1 KRAS MAP2K1 MAP2K2 NRAS
48
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
49
Show member pathways
12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
50 12.94 BRAF HRAS IGF1 KRAS MAP2K1 MAP2K2

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 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 BRAF HRAS IGF1 KRAS MAP2K1 NF1
2 heart development GO:0007507 9.96 MAP2K1 NF1 PTPN11 RAF1
3 Fc-epsilon receptor signaling pathway GO:0038095 9.92 HRAS KRAS NRAS SOS1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 BRAF HRAS MAP2K1 PTPN11 RAF1
5 leukocyte migration GO:0050900 9.88 HRAS KRAS NRAS PTPN11 SOS1
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.87 HRAS KRAS NRAS RAF1
7 activation of MAPK activity GO:0000187 9.86 IGF1 MAP2K1 MAP2K2 PTPN11
8 regulation of Rho protein signal transduction GO:0035023 9.84 RAF1 SOS1 SOS2
9 axon guidance GO:0007411 9.83 HRAS KRAS NRAS PTPN11 SOS1
10 visual learning GO:0008542 9.77 BRAF KRAS NF1
11 thymus development GO:0048538 9.77 BRAF MAP2K1 RAF1
12 ERK1 and ERK2 cascade GO:0070371 9.72 IGF1 MAP2K1 MAP2K2
13 thyroid gland development GO:0030878 9.71 BRAF MAP2K1 RAF1
14 regulation of synaptic transmission, GABAergic GO:0032228 9.67 KRAS NF1
15 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.67 IGF1 IGFBP3
16 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 HRAS KRAS NF1
17 regulation of stress-activated MAPK cascade GO:0032872 9.65 MAP2K1 MAP2K2
18 positive regulation of small GTPase mediated signal transduction GO:0051057 9.65 SOS1 SOS2
19 epidermal growth factor receptor signaling pathway GO:0007173 9.65 HRAS KRAS NRAS PTPN11 SOS1
20 MAPK cascade GO:0000165 9.65 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
21 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.64 MAP2K1 MAP2K2
22 Bergmann glial cell differentiation GO:0060020 9.64 MAP2K1 PTPN11
23 regulation of early endosome to late endosome transport GO:2000641 9.63 MAP2K1 MAP2K2
24 regulation of axon regeneration GO:0048679 9.63 BRAF MAP2K1
25 positive regulation of Ras protein signal transduction GO:0046579 9.63 HRAS IGF1 SHOC2
26 response to isolation stress GO:0035900 9.62 HRAS KRAS
27 ERBB2 signaling pathway GO:0038128 9.62 HRAS KRAS NRAS SOS1
28 proteolysis in other organism GO:0035897 9.61 MAP2K1 MAP2K2
29 regulation of Golgi inheritance GO:0090170 9.58 MAP2K1 MAP2K2
30 cerebellar cortex formation GO:0021697 9.58 MAP2K1 PTPN11
31 face development GO:0060324 9.58 BRAF MAP2K1 RAF1
32 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 PTPN11 RAF1 SOS1
33 forebrain astrocyte development GO:0021897 9.52 KRAS NF1
34 Ras protein signal transduction GO:0007265 9.28 HRAS IGF1 KRAS NF1 NRAS RIT1
35 negative regulation of cell proliferation GO:0008285 10.05 HRAS IGFBP3 MAP2K1 NF1 RAF1
36 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 GTP binding GO:0005525 9.65 HRAS KRAS NRAS RIT1 RRAS
2 GDP binding GO:0019003 9.5 HRAS KRAS RRAS
3 MAP kinase kinase activity GO:0004708 9.37 MAP2K1 MAP2K2
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 10.11 BRAF HRAS IGF1 IGFBP3 KAT6B KRAS

Sources for Noonan Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....