NS1
MCID: NNN008
MIFTS: 79

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 57 12 53 75 29 13 6 15
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
Ns1 57 12 75 15
Turner Phenotype with Normal Karyotype 57 25 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 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 Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone 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 : 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.

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.

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 286)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 34.5 PTPN11 NF1 MAP2K2
2 noonan syndrome with multiple lentigines 34.5 RAF1 PTPN11 BRAF
3 leopard syndrome 32.7 RAF1 PTPN11 NF1 HRAS BRAF
4 noonan syndrome 3 32.7 SOS1 SHOC2 RAF1 PTPN11 KRAS IRF3
5 costello syndrome 32.6 SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
6 hypertelorism 32.6 RIT1 RAF1 PTPN11 BRAF
7 cardiofaciocutaneous syndrome 1 32.2 SOS1 SHOC2 PTPN11 MAP2K2 MAP2K1 KRAS
8 hypertrophic cardiomyopathy 31.3 SOS1 RAF1 PTPN11 KRAS BRAF
9 lentigines 31.2 RAF1 PTPN11 BRAF
10 juvenile myelomonocytic leukemia 31.1 SOS1 RRAS RIT1 RAF1 PTPN11 NRAS
11 pilomyxoid astrocytoma 30.3 RAF1 NF1 KRAS BRAF
12 pulmonic stenosis 30.3 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
13 neurofibromatosis, type iv, of riccardi 30.2 RASA2 PTPN11 NF1 HRAS
14 pilocytic astrocytoma 30.2 NF1 KRAS BRAF
15 myelodysplastic syndrome 30.2 HRAS KRAS NF1 NRAS PTPN11
16 villonodular synovitis 30.1 SOS1 PTPN11
17 noonan syndrome-like disorder with loose anagen hair 1 12.5
18 noonan syndrome 4 12.5
19 noonan syndrome 6 12.5
20 noonan syndrome 7 12.5
21 noonan syndrome-like disorder with loose anagen hair 2 12.3
22 short-rib thoracic dysplasia 3 with or without polydactyly 11.7
23 pseudo-turner syndrome 11.7
24 multiple pterygium syndrome, escobar variant 11.5
25 noonan syndrome 2 11.4
26 cystic lymphangioma 11.3
27 medulloblastoma 11.1
28 legius syndrome 11.1
29 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 11.0
30 noonan syndrome 8 11.0
31 noonan syndrome 9 11.0
32 noonan syndrome 10 11.0
33 takenouchi-kosaki syndrome 11.0
34 kousseff nichols syndrome 11.0
35 cardiofaciocutaneous syndrome 2 11.0
36 cardiofaciocutaneous syndrome 3 11.0
37 cardiofaciocutaneous syndrome 4 11.0
38 chromosome 15q24 deletion syndrome 11.0
39 pulmonary valve stenosis 11.0
40 pectus carinatum 11.0
41 influenza 10.9
42 dengue virus 10.7
43 encephalitis 10.6
44 avian influenza 10.5
45 leukemia, chronic lymphocytic 10.5 PTPN11 NRAS KRAS HRAS BRAF
46 leukemia, chronic lymphocytic 2 10.5 PTPN11 NRAS KRAS HRAS BRAF
47 large intestine cancer 10.5 RAF1 PTPN11 NRAS MAP2K1 KRAS HRAS
48 acneiform dermatitis 10.5 NRAS MAP2K1 KRAS HRAS
49 myelodysplastic myeloproliferative cancer 10.5 PTPN11 NRAS NF1 HRAS
50 urachal adenocarcinoma 10.4 NF1 KRAS BRAF

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)

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

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 10.4 NF1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.4 NF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.4 RAF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.4 RASA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.4 RASA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.4 A2ML1 NRAS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 10.4 RAF1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.4 A2ML1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.4 A2ML1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.4 A2ML1 NF1 NRAS RAF1 RASA2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.4 NRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.4 A2ML1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.4 A2ML1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.4 NRAS RAF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.4 RASA2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.4 RASA2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.4 A2ML1 RASA2
18 Decreased viability GR00055-A-2 10.34 HRAS KRAS
19 Decreased viability GR00106-A-0 10.34 KRAS
20 Decreased viability GR00221-A-1 10.34 HRAS KRAS NF1 NRAS RAF1
21 Decreased viability GR00221-A-2 10.34 HRAS KRAS NF1 RAF1
22 Decreased viability GR00221-A-3 10.34 HRAS NRAS
23 Decreased viability GR00221-A-4 10.34 NF1
24 Decreased viability GR00231-A 10.34 RAF1
25 Decreased viability GR00301-A 10.34 KRAS RAF1
26 Decreased viability GR00381-A-1 10.34 KRAS
27 Decreased viability GR00402-S-2 10.34 HRAS KRAS NF1 NRAS RAF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.16 SOS1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.16 BRAF
30 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.16 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.16 SOS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.16 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.16 SOS1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.16 SOS1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.16 PTPN11
36 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.16 BRAF NF1 PTPN11 RAF1 SOS1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.16 RAF1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.16 RAF1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.16 BRAF
40 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.16 BRAF
41 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.16 PTPN11
42 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.16 PTPN11
43 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.16 BRAF
44 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.16 BRAF
45 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.16 BRAF
46 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.16 BRAF
47 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.16 PTPN11
48 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.16 NF1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.16 BRAF PTPN11
50 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.16 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 10.36 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
2 cellular MP:0005384 10.35 BRAF DDX58 IRF3 KRAS MAP2K1 MAP2K2
3 homeostasis/metabolism MP:0005376 10.35 BRAF DDX58 HRAS IRF3 KRAS LZTR1
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 10.19 BRAF DDX58 KRAS LZTR1 NF1 NRAS
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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Investigational, Vet_approved Phase 2, Phase 3 70288-86-7 6474909
2 Anti-Infective Agents Phase 2, Phase 3
3 Antiparasitic Agents Phase 2, Phase 3
4 Vaccines Phase 3,Phase 2,Phase 1
5 Immunologic Factors Phase 3,Phase 2,Phase 1
6
Lenograstim Approved, Investigational Phase 2 135968-09-1
7
Trametinib Approved Phase 2 871700-17-3 11707110
8
Apaziquone Investigational Phase 1, Phase 2 114560-48-4 5813717
9 Adjuvants, Immunologic Phase 2
10 Protein Kinase Inhibitors Phase 2
11
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
12
Aluminum sulfate Approved Phase 1 10043-01-3
13 insulin Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 Hypoglycemic Agents Not Applicable
16 monensin Not Applicable

Interventional clinical trials:

(show all 29)
# 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 Completed NCT01373281 Phase 3
3 Phase III Trial to Evaluate Efficacy and Safety of a Tetravalent Dengue Vaccine Recruiting NCT02406729 Phase 3
4 Celgosivir as a Treatment Against Dengue Completed NCT01619969 Phase 1, Phase 2 celgosivir;placebo
5 G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical Response Completed NCT00397423 Phase 2 Granulocyte Colony Stimulating Factor;NS
6 Pharmacokinetics and Pharmacodynamics of Ivermectin in Pediatric Dengue Patients Recruiting NCT03432442 Phase 2 Ivermectin
7 Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
8 Parvovirus H-1 (ParvOryx) in Patients With Metastatic Inoperable Pancreatic Cancer Recruiting NCT02653313 Phase 1, Phase 2 Parvovirus H-1 (H-1PV)
9 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
10 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
11 Celgosivir or Modipafant as Treatment for Adult Participants With Uncomplicated Dengue Fever in Singapore Not yet recruiting NCT02569827 Phase 1, Phase 2 Celgosivir;Modipafant 50mg;Placebo;Modipafant 100mg
12 Two Doses of GHB04L1 for Pandemic Influenza Prophylaxis in Healthy Adults Completed NCT03745274 Phase 1
13 Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule Study Completed NCT02937233 Phase 1
14 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
15 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731
16 Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, Taiwan Unknown status NCT01163123
17 Dengue Virus NS1 Antigen (Bio-Rad) Clinical Protocol Completed NCT01226173
18 Sensitivity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02059122
19 Specificity Study of Diagnostic for Early Detection of Dengue Infection Completed NCT02107677
20 Diagnosis and Characterization of Dengue Fever in Children Completed NCT00946218
21 Laboratory Diagnosis and Prognosis of Severe Dengue Completed NCT01421732
22 Association of Host Genetics With Vaccine Efficacy and Study of Immune Correlates of Risk From a Tetravalent Dengue Vaccine Completed NCT02827162
23 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316 Not Applicable
24 Comparative Trial in Compression Therapy in Leg Lymphedema Completed NCT00665379 Not Applicable
25 Long-Term Study of Hospitalized Dengue & Safety in Thai Children Included in a Tetravalent Dengue Vaccine Efficacy Study Completed NCT01983553
26 Combating Dengue With Innovative, Paradigm-shift-Strategies: Early Dengue Surveillance in Adult Aedes Mosquitoes Recruiting NCT03799237 Not Applicable
27 Wolbachia Disease Impact in Medellin and Bello Recruiting NCT03631719
28 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
29 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, Myeloid, Brain, Thyroid

Publications for Noonan Syndrome 1

Articles related to Noonan Syndrome 1:

(show top 50) (show all 799)
# 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
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. ( 29988639 )
2018
7
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. ( 30157809 )
2018
8
Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. ( 30511597 )
2018
9
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines. ( 30152106 )
2018
10
Myelodysplastic syndrome with multilineage dysplasia evolving to acute myeloid leukemia: Noonan syndrome with c.218C>T mutation in PTPN11 gene. ( 30378271 )
2018
11
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. ( 29737035 )
2018
12
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1. ( 29914349 )
2018
13
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. ( 28957739 )
2018
14
Psychopathological features in Noonan syndrome. ( 29037749 )
2018
15
Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients. ( 29109363 )
2018
16
Noonan syndrome: an update on growth and development. ( 29120925 )
2018
17
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome. ( 29226542 )
2018
18
Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome. ( 29362165 )
2018
19
Mutation in the ADNP gene associated with Noonan syndrome features. ( 29424797 )
2018
20
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. ( 29469822 )
2018
21
First-year growth in children with Noonan syndrome: Associated with feeding problems? ( 29575624 )
2018
22
DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. ( 29642153 )
2018
23
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth. ( 29659837 )
2018
24
Noonan syndrome: Severe phenotype and PTPN11 mutations. ( 29703613 )
2018
25
Central xanthoma of the jaw in association with Noonan syndrome. ( 29727697 )
2018
26
Giant cell lesion of the jaw as a presenting feature of Noonan syndrome. ( 29848529 )
2018
27
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. ( 29907801 )
2018
28
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. ( 29948256 )
2018
29
Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature. ( 29998749 )
2018
30
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
31
Cardiovascular disease in Noonan syndrome. ( 30024444 )
2018
32
A genome-wide analysis of colorectal cancer in a child with Noonan syndrome. ( 30039904 )
2018
33
Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. ( 30050098 )
2018
34
Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function. ( 30089263 )
2018
35
Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome. ( 30320868 )
2018
36
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency. ( 30325180 )
2018
37
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. ( 30348783 )
2018
38
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. ( 30368668 )
2018
39
Growth Hormone Treatment for Patients with Noonan Syndrome. ( 30378787 )
2018
40
Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation-positive patients. ( 30417923 )
2018
41
Evaluation of bleeding disorders in patients with Noonan syndrome: a systematic review. ( 30464668 )
2018
42
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. ( 30481304 )
2018
43
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. ( 30514065 )
2018
44
Cognitive profile of a child with SOS1 mutation in Noonan syndrome. ( 26968820 )
2018
45
Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome. ( 27878339 )
2017
46
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. ( 28074573 )
2017
47
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. ( 28582432 )
2017
48
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. ( 28607217 )
2017
49
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. ( 28911943 )
2017
50
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome. ( 29301184 )
2017

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 1194)
# 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 PTPN11 NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del) deletion Pathogenic rs80338836 GRCh38 Chromosome 12, 112450359: 112450361
4 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
5 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
6 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
7 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh38 Chromosome 12, 25227351: 25227351
8 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
9 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh38 Chromosome 12, 25245345: 25245345
10 KRAS NM_004985.4(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh37 Chromosome 12, 25398304: 25398304
11 KRAS NM_004985.4(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh38 Chromosome 12, 25245370: 25245370
12 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
13 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh38 Chromosome 12, 25245372: 25245372
14 HRAS NM_005343.3(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
15 HRAS NM_005343.3(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
16 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh37 Chromosome 2, 39278352: 39278352
17 SOS1 NM_005633.3(SOS1): c.797C> A (p.Thr266Lys) single nucleotide variant Pathogenic rs137852812 GRCh38 Chromosome 2, 39051211: 39051211
18 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh37 Chromosome 2, 39278343: 39278343
19 SOS1 NM_005633.3(SOS1): c.806T> G (p.Met269Arg) single nucleotide variant Pathogenic rs137852813 GRCh38 Chromosome 2, 39051202: 39051202
20 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh37 Chromosome 2, 39249915: 39249915
21 SOS1 NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly) single nucleotide variant Pathogenic rs137852814 GRCh38 Chromosome 2, 39022774: 39022774
22 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh37 Chromosome 2, 39249913: 39249913
23 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 GRCh38 Chromosome 2, 39022772: 39022772
24 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh37 Chromosome 2, 39250275: 39250275
25 SOS1 NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg) single nucleotide variant Pathogenic rs267607080 GRCh38 Chromosome 2, 39023134: 39023134
26 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
27 PTPN11 NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser) single nucleotide variant Pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
28 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
29 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
30 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
31 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
32 PTPN11 NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del) deletion Pathogenic rs80338836 GRCh37 Chromosome 12, 112888163: 112888165
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.184T> G (p.Tyr62Asp) single nucleotide variant Pathogenic rs121918460 GRCh38 Chromosome 12, 112450364: 112450364
39 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh37 Chromosome 12, 112888166: 112888166
40 PTPN11 NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly) single nucleotide variant Pathogenic rs121918461 GRCh38 Chromosome 12, 112450362: 112450362
41 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
42 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
43 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh37 Chromosome 12, 112926884: 112926884
44 PTPN11 NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr) single nucleotide variant Pathogenic rs121918458 GRCh38 Chromosome 12, 112489080: 112489080
45 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
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:

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 220)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.35 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
2
Show member pathways
14.23 BRAF DDX58 HRAS IRF3 KRAS MAP2K1
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
13.67 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
12
Show member pathways
13.63 BRAF DDX58 HRAS IRF3 KRAS MAP2K1
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
13.5 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
17
Show member pathways
13.46 HRAS IRF3 KRAS NRAS PTPN11 RAF1
18
Show member pathways
13.36 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
19
Show member pathways
13.35 DDX58 HRAS IRF3 KRAS MAP2K1 MAP2K2
20
Show member pathways
13.33 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
21
Show member pathways
13.33 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
22
Show member pathways
13.31 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
23
Show member pathways
13.28 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
24
Show member pathways
13.28 HRAS IRF3 KRAS MAP2K1 MAP2K2 NRAS
25
Show member pathways
13.22 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
26
Show member pathways
13.21 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
27
Show member pathways
13.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
28
Show member pathways
13.2 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
29
Show member pathways
13.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
30
Show member pathways
13.19 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
31
Show member pathways
13.18 BRAF HRAS KRAS MAP2K1 NRAS RAF1
32
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
33
Show member pathways
13.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
34 13.14 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
35
Show member pathways
13.11 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
36
Show member pathways
13.09 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
37
Show member pathways
13.08 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
38
Show member pathways
13.08 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
39
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
40
Show member pathways
13.06 HRAS IRF3 KRAS MAP2K1 MAP2K2 NRAS
41
Show member pathways
13.05 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2
42
Show member pathways
13.02 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
43
Show member pathways
13 DDX58 IRF3 MAP2K1 MAP2K2 PTPN11 RAF1
44
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
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
12.97 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
48
Show member pathways
12.97 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
49
Show member pathways
12.94 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
50 12.93 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS

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 cytosol GO:0005829 9.47 BRAF DDX58 HRAS IRF3 KRAS MAP2K1
2 nucleosome GO:0000786 9.13 KAT6B SOS1 SOS2

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

(show all 27)
# 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 9.92 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 9.8 RAF1 SOS1 SOS2
6 visual learning GO:0008542 9.71 BRAF KRAS NF1
7 thymus development GO:0048538 9.7 BRAF MAP2K1 RAF1
8 positive regulation of interferon-beta production GO:0032728 9.65 DDX58 IRF3 PTPN11
9 MAPK cascade GO:0000165 9.65 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10 regulation of synaptic transmission, GABAergic GO:0032228 9.63 KRAS NF1
11 positive regulation of interferon-alpha production GO:0032727 9.63 DDX58 IRF3
12 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.61 MAP2K1 MAP2K2
13 thyroid gland development GO:0030878 9.61 BRAF MAP2K1 RAF1
14 regulation of stress-activated MAPK cascade GO:0032872 9.6 MAP2K1 MAP2K2
15 Bergmann glial cell differentiation GO:0060020 9.59 MAP2K1 PTPN11
16 positive regulation of small GTPase mediated signal transduction GO:0051057 9.58 SOS1 SOS2
17 regulation of long-term neuronal synaptic plasticity GO:0048169 9.58 HRAS KRAS NF1
18 regulation of axon regeneration GO:0048679 9.57 BRAF MAP2K1
19 regulation of early endosome to late endosome transport GO:2000641 9.56 MAP2K1 MAP2K2
20 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.56 HRAS KRAS NRAS RAF1
21 response to isolation stress GO:0035900 9.55 HRAS KRAS
22 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 PTPN11 RAF1 SOS1
23 regulation of Golgi inheritance GO:0090170 9.51 MAP2K1 MAP2K2
24 face development GO:0060324 9.5 BRAF MAP2K1 RAF1
25 cerebellar cortex formation GO:0021697 9.49 MAP2K1 PTPN11
26 forebrain astrocyte development GO:0021897 9.46 KRAS NF1
27 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 9.55 HRAS KRAS NRAS RIT1 RRAS
2 GDP binding GO:0019003 9.43 HRAS KRAS RRAS
3 mitogen-activated protein kinase kinase binding GO:0031434 9.37 BRAF RAF1
4 GTPase activity GO:0003924 9.35 HRAS KRAS NRAS RIT1 RRAS
5 nucleotide binding GO:0000166 9.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
6 protein binding GO:0005515 10.25 BRAF DDX58 HRAS IRF3 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
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