NS1
MCID: NNN008
MIFTS: 78

Noonan Syndrome 1 (NS1)

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

Aliases & Classifications for Noonan Syndrome 1

MalaCards integrated aliases for Noonan Syndrome 1:

Name: Noonan Syndrome 1 58 12 54 76 30 13 6 15
Noonan Syndrome 58 12 77 25 54 26 60 76 38 30 56 6 45 15 74
Female Pseudo-Turner Syndrome 58 54 26 76
Male Turner Syndrome 58 54 26 76
Ns1 58 12 76 15
Turner Phenotype with Normal Karyotype 58 26 76
Pseudo-Ullrich-Turner Syndrome 54 26
Ullrich-Noonan Syndrome 54 26
Noonan-Ehmke Syndrome 54 26
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 76
Noonan Syndrome with Pigmented Villonodular Synovitis 76
Noonan-Like/multiple Giant Cell Lesion Syndrome 76
Turner Syndrome in Female with X Chromosome 26
Turner's Phenotype, Karyotype Normal 12
Pterygium Colli Syndrome 76
Familial Turner Syndrome 26
Syndrome, Noonan, Type 1 41
Turner Syndrome, Male 74
Turner-Like Syndrome 26
Noonan's Syndrome 26
Syndrome, Noonan 41
Ns 26

Characteristics:

Orphanet epidemiological data:

60
noonan syndrome
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to leopard syndrome


HPO:

33
noonan syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

25
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 : 54 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 neurofibromatosis-noonan syndrome and noonan syndrome with multiple lentigines. 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 bone, eye and skin, and related phenotypes are hypertelorism and pectus excavatum

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.

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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 : 77 Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short... 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 351)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 35.0 MAP2K2 NF1 PTPN11
2 noonan syndrome with multiple lentigines 34.9 BRAF PTPN11 RAF1
3 noonan syndrome 3 33.2 DDX58 HRAS KRAS PTPN11 RAF1 SHOC2
4 leopard syndrome 33.1 BRAF HRAS NF1 PTPN11 RAF1
5 costello syndrome 33.1 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
6 hypertelorism 33.1 BRAF PTPN11 RAF1 RIT1 SOS2
7 cardiofaciocutaneous syndrome 1 32.6 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
8 hypertrophic cardiomyopathy 31.7 BRAF KRAS PTPN11 RAF1 SOS1
9 lentigines 31.6 BRAF PTPN11 RAF1
10 neurofibromatosis, type iv, of riccardi 31.6 HRAS NF1 PTPN11 RASA2
11 juvenile myelomonocytic leukemia 31.6 BRAF KRAS NF1 NRAS PTPN11 RAF1
12 cryptorchidism, unilateral or bilateral 30.9 PTPN11 SHOC2 SOS1
13 pulmonic stenosis 30.7 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
14 pilomyxoid astrocytoma 30.7 BRAF KRAS NF1 RAF1
15 villonodular synovitis 30.6 PTPN11 SOS1
16 pilocytic astrocytoma 30.6 BRAF KRAS NF1
17 myelodysplastic syndrome 30.6 HRAS KRAS NF1 NRAS PTPN11
18 noonan syndrome 4 12.6
19 noonan syndrome 6 12.6
20 noonan syndrome 7 12.6
21 noonan syndrome-like disorder with loose anagen hair 1 12.6
22 noonan syndrome-like disorder with loose anagen hair 2 12.5
23 short-rib thoracic dysplasia 3 with or without polydactyly 11.8
24 pseudo-turner syndrome 11.7
25 multiple pterygium syndrome, escobar variant 11.6
26 noonan syndrome 2 11.5
27 cystic lymphangioma 11.4
28 cardiofaciocutaneous syndrome 2 11.3
29 medulloblastoma 11.2
30 legius syndrome 11.2
31 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 11.0
32 noonan syndrome 8 11.0
33 noonan syndrome 9 11.0
34 noonan syndrome 10 11.0
35 takenouchi-kosaki syndrome 11.0
36 kousseff nichols syndrome 11.0
37 cardiofaciocutaneous syndrome 3 11.0
38 cardiofaciocutaneous syndrome 4 11.0
39 chromosome 15q24 deletion syndrome 11.0
40 pectus carinatum 11.0
41 influenza 11.0
42 dengue virus 10.9
43 large intestine cancer 10.7 BRAF HRAS KRAS MAP2K1 NRAS PTPN11
44 leukemia, chronic lymphocytic 10.7 BRAF HRAS KRAS NRAS PTPN11
45 leukemia, chronic lymphocytic 2 10.7 BRAF HRAS KRAS NRAS PTPN11
46 acneiform dermatitis 10.7 HRAS KRAS MAP2K1 NRAS
47 adenocarcinoma 10.7 BRAF HRAS KRAS MAP2K1 RAF1
48 bladder urothelial carcinoma 10.7 BRAF HRAS KRAS MAP2K1 NRAS
49 myelodysplastic myeloproliferative cancer 10.7 HRAS NF1 NRAS PTPN11
50 lung cancer susceptibility 3 10.7 BRAF HRAS KRAS MAP2K1 NRAS RAF1

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



Diseases related to Noonan Syndrome 1

Symptoms & Phenotypes for Noonan Syndrome 1

Human phenotypes related to Noonan Syndrome 1:

60 33 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
3 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
4 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
5 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
6 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
7 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000768
8 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
9 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
10 aplasia/hypoplasia of the abdominal wall musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0010318
11 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
12 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
13 enlarged thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0100625
14 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
15 webbed neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000465
16 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
17 cystic hygroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000476
18 hypogonadotrophic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000044
19 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
20 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
21 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
22 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
23 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
24 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
25 thickened helices 60 33 hallmark (90%) Very frequent (99-80%) HP:0000391
26 pulmonary artery stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004415
27 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
28 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
29 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
30 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
31 coarse hair 60 33 frequent (33%) Frequent (79-30%) HP:0002208
32 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
33 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
34 abnormal bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0001892
35 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
36 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
37 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
38 abnormal dermatoglyphics 60 33 frequent (33%) Frequent (79-30%) HP:0007477
39 abnormal hair quantity 60 33 frequent (33%) Frequent (79-30%) HP:0011362
40 abnormality of the spleen 60 33 frequent (33%) Frequent (79-30%) HP:0001743
41 abnormal platelet function 60 33 frequent (33%) Frequent (79-30%) HP:0011869
42 abnormality of coagulation 60 33 frequent (33%) Frequent (79-30%) HP:0001928
43 abnormal pulmonary valve morphology 33 frequent (33%) HP:0001641
44 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
45 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
46 lymphedema 60 33 occasional (7.5%) Occasional (29-5%) HP:0001004
47 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
48 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
49 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
50 radioulnar synostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002974

Symptoms via clinical synopsis from OMIM:

58
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 Ribs Sternum Clavicles And Scapulae:
shield chest
pectus carinatum superiorly
pectus excavatum inferiorly

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

Skeletal Spine:
kyphoscoliosis
vertebral abnormalities

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)

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

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

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

27 (show top 50) (show all 58)
# 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 A2ML1 NRAS
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 A2ML1 NF1 NRAS RAF1 RASA2
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 NRAS RAF1
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 A2ML1 RASA2
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 HRAS KRAS NF1 NRAS RAF1
20 Decreased viability GR00221-A-2 10.34 HRAS KRAS NF1 RAF1
21 Decreased viability GR00221-A-3 10.34 HRAS NRAS
22 Decreased viability GR00221-A-4 10.34 NF1
23 Decreased viability GR00231-A 10.34 RAF1
24 Decreased viability GR00301-A 10.34 KRAS RAF1
25 Decreased viability GR00381-A-1 10.34 KRAS
26 Decreased viability GR00402-S-2 10.34 HRAS KRAS NF1 NRAS RAF1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.19 SOS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.19 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.19 RAF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.19 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.19 SOS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.19 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.19 SOS1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.19 SOS1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.19 PTPN11
36 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.19 BRAF NF1 PTPN11 RAF1 SOS1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.19 RAF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.19 RAF1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.19 BRAF
40 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.19 BRAF
41 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.19 PTPN11
42 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.19 PTPN11
43 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.19 BRAF
44 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.19 BRAF
45 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.19 BRAF
46 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.19 BRAF
47 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.19 PTPN11
48 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.19 NF1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.19 BRAF PTPN11
50 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.19 RAF1

MGI Mouse Phenotypes related to Noonan Syndrome 1:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
2 cellular MP:0005384 10.32 BRAF DDX58 KRAS MAP2K1 MAP2K2 NF1
3 homeostasis/metabolism MP:0005376 10.32 BRAF DDX58 HRAS KRAS LZTR1 MAP2K1
4 growth/size/body region MP:0005378 10.3 BRAF DDX58 HRAS KRAS MAP2K1 MAP2K2
5 craniofacial MP:0005382 10.27 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
6 digestive/alimentary MP:0005381 10.26 BRAF DDX58 HRAS KRAS MAP2K1 MAP2K2
7 endocrine/exocrine gland MP:0005379 10.24 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
8 mortality/aging MP:0010768 10.22 BRAF DDX58 HRAS KRAS LZTR1 MAP2K1
9 embryo MP:0005380 10.2 BRAF KRAS MAP2K1 NF1 NRAS PTPN11
10 integument MP:0010771 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11 hematopoietic system MP:0005397 10.15 BRAF DDX58 KRAS NF1 NRAS PTPN11
12 neoplasm MP:0002006 10.11 BRAF DDX58 HRAS KRAS MAP2K1 MAP2K2
13 normal MP:0002873 10.06 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
14 hearing/vestibular/ear MP:0005377 10.05 BRAF KRAS MAP2K1 MAP2K2 NF1 PTPN11
15 liver/biliary system MP:0005370 9.98 BRAF DDX58 KRAS NF1 NRAS PTPN11
16 respiratory system MP:0005388 9.7 BRAF HRAS KRAS NF1 PTPN11 RAF1
17 pigmentation MP:0001186 9.65 BRAF KRAS NF1 NRAS PTPN11
18 skeleton MP:0005390 9.65 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
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 45)
# 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 Antiparasitic Agents Phase 2, Phase 3
4 Anti-Infective Agents Phase 2, Phase 3
5 Pharmaceutical Solutions Phase 3,Phase 1
6 Vaccines Phase 3,Phase 2,Phase 1
7 Immunologic Factors Phase 3,Phase 2,Phase 1
8 Hormone Antagonists Phase 3
9 Hormones Phase 3,Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Antimetabolites Phase 3,Phase 2
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Phase 2
13 Anticholesteremic Agents Phase 3,Phase 2
14 Hypolipidemic Agents Phase 3,Phase 2
15 Lipid Regulating Agents Phase 3,Phase 2
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
18
Trametinib Approved Phase 2 871700-17-3 11707110
19
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
20
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
21
Mecasermin Approved, Investigational Phase 2 68562-41-4
22
Zinc Approved, Investigational Phase 2 7440-66-6 32051
23
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
24
Apaziquone Investigational Phase 1, Phase 2 114560-48-4 5813717
25 Adjuvants, Immunologic Phase 2
26 Insulin, Globin Zinc Phase 2,Not Applicable
27 Hypoglycemic Agents Phase 2,Not Applicable
28 insulin Phase 2,Not Applicable
29 Protein Kinase Inhibitors Phase 2
30 Antipsychotic Agents Phase 2
31 Tranquilizing Agents Phase 2
32 L 647318 Phase 2
33 Diuretics, Potassium Sparing Phase 2
34 Calcium, Dietary Phase 2
35 Central Nervous System Depressants Phase 2
36 Psychotropic Drugs Phase 2
37 Dihydromevinolin Phase 2
38 calcium channel blockers Phase 2
39 Anticonvulsants Phase 2
40 Sodium Channel Blockers Phase 2
41 Mitogens Phase 2
42
Aluminum sulfate Approved Phase 1 10043-01-3
43
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
44
Caffeine Approved Not Applicable 58-08-2 2519
45
Monensin Experimental, Vet_approved Not Applicable 17090-79-8

Interventional clinical trials:

(show all 42)
# 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 and Adolescents Aged 9 to 16 Years in Latin America Completed NCT01374516 Phase 3
3 Study of a Novel Tetravalent Dengue Vaccine in Healthy Children Aged 2 to 14 Years in Asia Completed NCT01373281 Phase 3
4 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
5 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3 somatropin;somatropin
6 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
7 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3 somatropin;somatropin
8 Phase III Trial to Evaluate Efficacy and Safety of a Tetravalent Dengue Vaccine Recruiting NCT02406729 Phase 3
9 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
10 Celgosivir as a Treatment Against Dengue Completed NCT01619969 Phase 1, Phase 2 celgosivir;placebo
11 G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical Response Completed NCT00397423 Phase 2 Granulocyte Colony Stimulating Factor;NS
12 Safety and Immunogenicity of Different Schedules of Takeda's Tetravalent Dengue Vaccine Candidate (TDV) in Healthy Participants Completed NCT02302066 Phase 2 TDV Placebo
13 Parvovirus H-1 (ParvOryx) in Patients With Metastatic Inoperable Pancreatic Cancer Completed NCT02653313 Phase 1, Phase 2 Parvovirus H-1 (H-1PV)
14 Pharmacokinetics and Pharmacodynamics of Ivermectin in Pediatric Dengue Patients Recruiting NCT03432442 Phase 2 Ivermectin
15 Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
16 Synaptic Plasticity and Cognitive Function in RASopathies Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
17 Immunogenicity and Safety of Different Vaccination Schedules of Tetravalent Dengue Vaccine in Healthy Subjects 9 to 50 Years of Age Active, not recruiting NCT02628444 Phase 2
18 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
19 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
20 IC14 in Adult Patients With Dengue Fever Withdrawn NCT03875560 Phase 2 Placebo
21 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
22 Two Doses of GHB04L1 for Pandemic Influenza Prophylaxis in Healthy Adults Completed NCT03745274 Phase 1
23 Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule Study Completed NCT02937233 Phase 1
24 Evaluating the Infectivity, Safety and Immunogenicity of Respiratory Syncytial Virus Vaccines, RSV 6120/∆NS1 and RSV 6120/F1/G2/∆NS1, in RSV-Seropositive Children and RSV-Seronegative Infants and Children Recruiting NCT03596801 Phase 1
25 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731
26 Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, Taiwan Unknown status NCT01163123
27 Dengue Virus NS1 Antigen (Bio-Rad) Clinical Protocol Completed NCT01226173
28 Sensitivity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02059122
29 Specificity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02107677
30 Diagnosis and Characterization of Dengue Fever in Children Completed NCT00946218
31 Laboratory Diagnosis and Prognosis of Severe Dengue Completed NCT01421732
32 Association of Host Genetics With Vaccine Efficacy and Study of Immune Correlates of Risk From a Tetravalent Dengue Vaccine Completed NCT02827162
33 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316 Not Applicable
34 Comparative Trial in Compression Therapy in Leg Lymphedema Completed NCT00665379 Not Applicable
35 Long-Term Study of Hospitalized Dengue & Safety in Thai Children Included in a Tetravalent Dengue Vaccine Efficacy Study Completed NCT01983553
36 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 Completed NCT02766088 Not Applicable
37 Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
38 Combating Dengue With Innovative, Paradigm-shift-Strategies: Early Dengue Surveillance in Adult Aedes Mosquitoes Recruiting NCT03799237 Not Applicable
39 Impact of Wolbachia Deployment on Arboviral Disease Incidence in Medellin and Bello, Colombia Recruiting NCT03631719
40 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
41 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin
42 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 30 BRAF MAP2K1 PTPN11
2 Noonan Syndrome 30 MAP2K1 PTPN11

Anatomical Context for Noonan Syndrome 1

MalaCards organs/tissues related to Noonan Syndrome 1:

42
Bone, Eye, Skin, Thyroid, Heart, Myeloid, Brain

Publications for Noonan Syndrome 1

Articles related to Noonan Syndrome 1:

(show top 50) (show all 839)
# Title Authors Year
1
Oligo-astrocytoma in LZTR1-related Noonan syndrome. ( 30664951 )
2019
2
Cardiac Arrest in a 31-Year-Old Man With Noonan Syndrome. ( 30700630 )
2019
3
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. ( 29959388 )
2019
4
Diverticular enlargement of the foramen of Luschka and hydrocephalus in a child with Noonan syndrome. ( 30822582 )
2019
5
Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember. ( 30907043 )
2019
6
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. ( 31030682 )
2019
7
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. ( 31047013 )
2019
8
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. ( 31108500 )
2019
9
Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. ( 30511597 )
2019
10
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. ( 30640061 )
2019
11
Myelodysplastic syndrome with multilineage dysplasia evolving to acute myeloid leukemia: Noonan syndrome with c.218C>T mutation in PTPN11 gene. ( 30378271 )
2019
12
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. ( 30707178 )
2019
13
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia ( 31088041 )
2019
14
Mitral valve replacement and trans-mitral myectomy for a child with Noonan syndrome accompanied by hypertrophic obstructive cardiomyopathy. ( 30945161 )
2019
15
Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy. ( 30665336 )
2019
16
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. ( 30368668 )
2019
17
Imaging of central lymphatic abnormalities in Noonan syndrome. ( 30613845 )
2019
18
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. ( 30784236 )
2019
19
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. ( 31057598 )
2019
20
Intranodal Lymphatic Embolization for Chylocolporrhea Caused by Chylous Reflux Syndrome in Noonan Syndrome. ( 31029393 )
2019
21
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning. ( 31017896 )
2019
22
Noonan syndrome from a fetopathologist perspective. ( 30939887 )
2019
23
Treatment with Growth Hormone in Noonan Syndrome Observed during 25 Years of KIGS: Near Adult Height and Outcome Prediction. ( 30939478 )
2019
24
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy. ( 30904604 )
2019
25
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. ( 30898653 )
2019
26
ECG in noonan syndrome: beyond the "normal abnormalities". ( 30895763 )
2019
27
Social cognitive training for adults with Noonan syndrome: a feasibility study. ( 30880986 )
2019
28
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. ( 30859559 )
2019
29
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. ( 29907801 )
2019
30
Noonan syndrome: Severe phenotype and PTPN11 mutations. ( 29703613 )
2019
31
Occurrence of high-grade glioma in Noonan syndrome: Report of two cases. ( 30693642 )
2019
32
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome like phenotype. ( 30761613 )
2019
33
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
34
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. ( 29670795 )
2018
35
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. ( 29988639 )
2018
36
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. ( 30157809 )
2018
37
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines. ( 30152106 )
2018
38
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. ( 29737035 )
2018
39
Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome. ( 29232041 )
2018
40
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1. ( 29914349 )
2018
41
Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report. ( 30012103 )
2018
42
Cardiovascular disease in Noonan syndrome. ( 30024444 )
2018
43
A genome-wide analysis of colorectal cancer in a child with Noonan syndrome. ( 30039904 )
2018
44
Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. ( 30050098 )
2018
45
Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function. ( 30089263 )
2018
46
Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome. ( 30320868 )
2018
47
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency. ( 30325180 )
2018
48
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. ( 30348783 )
2018
49
Growth Hormone Treatment for Patients with Noonan Syndrome. ( 30378787 )
2018
50
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. ( 30417923 )
2018

Variations for Noonan Syndrome 1

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

76 (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 1214)
# 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_033360.3(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh37 Chromosome 12, 25398304: 25398304
10 KRAS NM_033360.3(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 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
14 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
15 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh37 Chromosome 2, 39278352: 39278352
16 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh38 Chromosome 2, 39051211: 39051211
17 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh37 Chromosome 2, 39278343: 39278343
18 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh38 Chromosome 2, 39051202: 39051202
19 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh37 Chromosome 2, 39249915: 39249915
20 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh38 Chromosome 2, 39022774: 39022774
21 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh37 Chromosome 2, 39249913: 39249913
22 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh38 Chromosome 2, 39022772: 39022772
23 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh37 Chromosome 2, 39250275: 39250275
24 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh38 Chromosome 2, 39023134: 39023134
25 PTPN11 NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del) deletion Pathogenic rs80338836 GRCh38 Chromosome 12, 112450359: 112450361
26 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
27 PTPN11 NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del) deletion Pathogenic rs80338836 GRCh37 Chromosome 12, 112888163: 112888165
28 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
29 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
30 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
31 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
32 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
33 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
34 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
35 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
36 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh38 Chromosome 12, 112473023: 112473023
37 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh37 Chromosome 12, 112888168: 112888168
38 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
39 PTPN11 NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh38 Chromosome 12, 112450364: 112450364
40 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh37 Chromosome 12, 112888166: 112888166
41 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh38 Chromosome 12, 112450362: 112450362
42 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
43 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
44 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh37 Chromosome 12, 112926884: 112926884
45 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh38 Chromosome 12, 112489080: 112489080
46 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
47 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
48 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh38 Chromosome 12, 112450398: 112450398
49 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 GRCh37 Chromosome 12, 112915455: 112915455
50 PTPN11 NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser) single nucleotide variant Pathogenic rs121918463 GRCh38 Chromosome 12, 112477651: 112477651

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:

38
# 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 215)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.34 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
2
Show member pathways
14.21 BRAF DDX58 HRAS KRAS MAP2K1 MAP2K2
3
Show member pathways
14.05 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
4
Show member pathways
14.04 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
5
Show member pathways
13.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
6
Show member pathways
13.9 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
7
Show member pathways
13.87 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
8
Show member pathways
13.78 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
9
Show member pathways
13.77 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
10
Show member pathways
13.77 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
11
Show member pathways
13.66 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
12
Show member pathways
13.64 BRAF DDX58 HRAS KRAS MAP2K1 MAP2K2
13
Show member pathways
13.55 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
14
Show member pathways
13.54 HRAS KRAS NRAS RAF1 RRAS SOS1
15
Show member pathways
13.54 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
16
Show member pathways
13.49 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
17
Show member pathways
13.36 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
18
Show member pathways
13.33 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
19
Show member pathways
13.32 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
20
Show member pathways
13.31 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
21
Show member pathways
13.28 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
22
Show member pathways
13.24 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
23
Show member pathways
13.23 DDX58 HRAS KRAS MAP2K1 MAP2K2 NRAS
24
Show member pathways
13.22 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
25
Show member pathways
13.21 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
26
Show member pathways
13.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
27
Show member pathways
13.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
28
Show member pathways
13.19 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
29
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
30
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 NRAS RAF1
31
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
32
Show member pathways
13.16 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
33 13.14 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
34
Show member pathways
13.11 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
35
Show member pathways
13.09 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
36
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
37
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
38
Show member pathways
13.05 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2
39
Show member pathways
13.02 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
40
Show member pathways
13.01 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
41
Show member pathways
13 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
42
Show member pathways
13 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
43
Show member pathways
12.98 HRAS KRAS NRAS PTPN11 SOS1
44
Show member pathways
12.98 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
45
Show member pathways
12.97 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
46
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
47
Show member pathways
12.94 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
48 12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
49
Show member pathways
12.92 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
50
Show member pathways
12.9 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11

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 Golgi apparatus GO:0005794 9.5 HRAS LZTR1 MAP2K1 MAP2K2 NRAS RAB39B
2 cytosol GO:0005829 9.4 BRAF DDX58 KRAS MAP2K1 MAP2K2 NF1
3 nucleosome GO:0000786 9.33 KAT6B SOS1 SOS2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.97 BRAF DDX58 HRAS KRAS MAP2K1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 BRAF HRAS MAP2K1 PTPN11
3 heart development GO:0007507 9.91 MAP2K1 NF1 PTPN11 RAF1
4 signal transduction GO:0007165 9.9 BRAF HRAS KRAS MAP2K1 NF1 NRAS
5 regulation of Rho protein signal transduction GO:0035023 9.79 RAF1 SOS1 SOS2
6 visual learning GO:0008542 9.7 BRAF KRAS NF1
7 thymus development GO:0048538 9.69 BRAF MAP2K1 RAF1
8 MAPK cascade GO:0000165 9.65 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
9 regulation of synaptic transmission, GABAergic GO:0032228 9.62 KRAS NF1
10 thyroid gland development GO:0030878 9.61 BRAF MAP2K1 RAF1
11 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.6 MAP2K1 MAP2K2
12 regulation of stress-activated MAPK cascade GO:0032872 9.59 MAP2K1 MAP2K2
13 Bergmann glial cell differentiation GO:0060020 9.58 MAP2K1 PTPN11
14 positive regulation of small GTPase mediated signal transduction GO:0051057 9.58 SOS1 SOS2
15 regulation of long-term neuronal synaptic plasticity GO:0048169 9.58 HRAS KRAS NF1
16 regulation of axon regeneration GO:0048679 9.56 BRAF MAP2K1
17 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.56 HRAS KRAS NRAS RAF1
18 regulation of early endosome to late endosome transport GO:2000641 9.55 MAP2K1 MAP2K2
19 response to isolation stress GO:0035900 9.54 HRAS KRAS
20 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 PTPN11 RAF1 SOS1
21 face development GO:0060324 9.5 BRAF MAP2K1 RAF1
22 regulation of Golgi inheritance GO:0090170 9.49 MAP2K1 MAP2K2
23 cerebellar cortex formation GO:0021697 9.48 MAP2K1 PTPN11
24 forebrain astrocyte development GO:0021897 9.46 KRAS NF1
25 Ras protein signal transduction GO:0007265 9.23 HRAS KRAS NF1 NRAS RIT1 RRAS

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 9.63 HRAS KRAS NRAS RAB39B RIT1 RRAS
2 GDP binding GO:0019003 9.43 HRAS KRAS RRAS
3 GTPase activity GO:0003924 9.43 HRAS KRAS NRAS RAB39B RIT1 RRAS
4 MAP kinase kinase activity GO:0004708 9.4 MAP2K1 MAP2K2
5 mitogen-activated protein kinase kinase binding GO:0031434 9.37 BRAF RAF1
6 nucleotide binding GO:0000166 9.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
7 protein binding GO:0005515 10.25 BRAF DDX58 HRAS KAT6B KRAS MAP2K1

Sources for Noonan Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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