MCID: NNN008
MIFTS: 67

Noonan Syndrome 1 malady

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

Aliases & Classifications for Noonan Syndrome 1

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Noonan Syndrome 1:

Name: Noonan Syndrome 1 51 11 47 69 26 12
Noonan Syndrome 11 70 23 47 24 25 53 69 49 38 13 67
Female Pseudo-Turner Syndrome 47 25 69
Male Turner Syndrome 47 25 69
Turner Phenotype with Normal Karyotype 25 69
Pseudo-Ullrich-Turner Syndrome 47 25
Ullrich-Noonan Syndrome 47 25
Noonan-Ehmke Syndrome 47 25
Noonan's Syndrome 25 26
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 69
 
Noonan Syndrome with Pigmented Villonodular Synovitis 69
Noonan-Like/multiple Giant Cell Lesion Syndrome 69
Turner Syndrome in Female with X Chromosome 25
Turner's Phenotype, Karyotype Normal 11
Familial Turner Syndrome 25
Pterygium Colli Syndrome 69
Turner Syndrome, Male 67
Turner-Like Syndrome 25
Ns1 69
Ns 25

Characteristics:

Orphanet epidemiological data:

53
noonan syndrome:
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

63
noonan syndrome 1:
Inheritance: autosomal dominant inheritance, heterogeneous

GeneReviews:

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


Classifications:



External Ids:

OMIM51 163950
Disease Ontology11 DOID:0060578, DOID:3490
ICD1029 Q87.1
MeSH38 D009634
Orphanet53 ORPHA648
UMLS via Orphanet68 C0028326
ICD10 via Orphanet30 Q87.1
MESH via Orphanet39 D009634

Summaries for Noonan Syndrome 1

About this section
OMIM:51 Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide... (163950) more...

MalaCards based summary: Noonan Syndrome 1, also known as noonan syndrome, is related to noonan syndrome 7 and leukemia, acute myelomonocytic, somatic, somatic, and has symptoms including abnormality of the palate, thick lower lip vermilion and malar flattening. An important gene associated with Noonan Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Thyroid cancer. Affiliated tissues include heart, skin and testes, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:11 A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24.

Genetics Home Reference:25 Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

NIH Rare Diseases:47 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by a mutation in any of several genes, and can be classified into subtypes based on the responsible gene. It is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. Treatment depends on the symptoms present in each person. Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Other conditions in this group include:neurofibromatosis type 1 LEOPARD syndrome, also called Noonan syndrome with multiple lentigines  Costello syndrome cardiofaciocutaneous syndrome Legius syndrome capillary malformation–arteriovenous malformation syndrome Last updated: 6/28/2016

UniProtKB/Swiss-Prot:69 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:70 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after... more...

GeneReviews for NBK1124

Related Diseases for Noonan Syndrome 1

About this section

Diseases in the Noonan Syndrome 1 family:

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

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome 733.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
2leukemia, acute myelomonocytic, somatic, somatic31.5HRAS, KRAS, NF1, NRAS, PTPN11, SHOC2
3noonan-like/multiple giant cell lesion syndrome12.5
4noonan syndrome with multiple lentigines12.2
5neurofibromatosis-noonan syndrome12.2
6noonan syndrome 312.2
7noonan syndrome 612.1
8noonan syndrome 412.1
9noonan syndrome 512.1
10noonan syndrome 912.1
11noonan syndrome 1012.1
12noonan syndrome 812.1
13noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia12.1
14noonan syndrome 212.0
15noonan-like syndrome with loose anagen hair11.8
16escobar syndrome11.2
17vagina sarcoma10.8HRAS, KRAS
18otof-related deafness10.8BRAF, PTPN11, RAF1
19ptpn11-related noonan syndrome10.8
20melanocytic nevus syndrome, congenital, somatic10.8HRAS, NRAS
21glomerulosclerosis10.8HRAS, KRAS
22leukoencephalopathy palmoplantar keratoderma10.8BRAF, KRAS, NRAS
23epidermal nevus, somatic10.8HRAS, KRAS, NRAS
24schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.8HRAS, KRAS, NRAS
25adenofibroma10.7HRAS, KRAS, NRAS
26pleomorphic xanthoastrocytoma10.7BRAF, NF1
27demyelinating polyneuropathy10.7HRAS, NRAS
28spinal muscular atrophy type 1 with congenital bone fractures10.7IGF1, IGFBP3
29critical congenital heart disease10.7HRAS, KRAS, NRAS
30split hand split foot malformation autosomal recessive10.7BRAF, HRAS
31growth hormone insensitivity with immunodeficiency10.7MAP2K2, NF1, PTPN11
32cardiofaciocutaneous syndrome10.7
33neurotic disorder10.7HRAS, NRAS, PTPN11
34acyl-coa dehydrogenase, short-chain, deficiency of10.7GHR, IGF1
35seizures mental retardation hair dysplasia10.7IGF1, IGFBP3
36arteritic anterior ischemic optic neuropathy10.7BRAF, HRAS, KRAS
37brachydactyly, type e210.7KRAS, NRAS
38gonococcal spondylitis10.7HRAS, KRAS
39follicular mucinosis10.7PTPN11, SOS1
40male reproductive organ benign neoplasm10.7HRAS, IGF1, KRAS
41dubin-johnson syndrome10.7BRAF, HRAS, NRAS
42peritoneal benign neoplasm10.7IGF1, LZTR1, NF1
43atrial standstill10.7BRAF, HRAS, KRAS, NRAS
44dermatosis papulosa nigra10.6HRAS, KRAS, MAP2K1, NRAS
45sublingual gland adenoid cystic carcinoma10.6HRAS, NRAS
46brown-vialetto-van laere syndrome10.6HRAS, KRAS, NRAS
47central retinal vein occlusion10.6GHR, IGF1, IGFBP3
48growth hormone insensitivity, partial10.6GHR, IGF1, IGFBP3
49mixed germ cell-sex cord neoplasm10.6BRAF, HRAS, KRAS, RAF1
50signet ring cell adenocarcinoma10.6GHR, IGF1, IGFBP3

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



Diseases related to noonan syndrome 1

Symptoms for Noonan Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

163950

Clinical features from OMIM:

163950

Human phenotypes related to Noonan Syndrome 1:

 63 53 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate63 hallmark (90%) HP:0000174
2 thick lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000179
3 malar flattening63 hallmark (90%) HP:0000272
4 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
5 triangular face63 53 hallmark (90%) Very frequent (99-80%) HP:0000325
6 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
7 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
8 low-set, posteriorly rotated ears63 53 hallmark (90%) Very frequent (99-80%) HP:0000368
9 webbed neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000465
10 thickened nuchal skin fold63 53 hallmark (90%) Very frequent (99-80%) HP:0000474
11 cystic hygroma63 53 hallmark (90%) Very frequent (99-80%) HP:0000476
12 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
13 ptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000508
14 proptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000520
15 pectus excavatum63 53 hallmark (90%) Very frequent (99-80%) HP:0000767
16 pectus carinatum63 53 hallmark (90%) Very frequent (99-80%) HP:0000768
17 muscle weakness63 53 hallmark (90%) Very frequent (99-80%) HP:0001324
18 joint hypermobility63 hallmark (90%) HP:0001382
19 abnormality of the pulmonary valve63 53 hallmark (90%) Frequent (79-30%) HP:0001641
20 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
21 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
22 abnormality of the nipple63 hallmark (90%) HP:0004404
23 abnormality of the pulmonary artery63 hallmark (90%) HP:0004414
24 aplasia/hypoplasia of the abdominal wall musculature63 53 hallmark (90%) Very frequent (99-80%) HP:0010318
25 abnormality of the helix63 hallmark (90%) HP:0011039
26 enlarged thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0100625
27 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
28 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
29 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
30 abnormality of the spleen63 53 typical (50%) Frequent (79-30%) HP:0001743
31 abnormality of thrombocytes63 typical (50%) HP:0001872
32 abnormality of coagulation63 53 typical (50%) Frequent (79-30%) HP:0001928
33 low posterior hairline63 53 typical (50%) Frequent (79-30%) HP:0002162
34 coarse hair63 53 typical (50%) Frequent (79-30%) HP:0002208
35 hepatomegaly63 53 typical (50%) Frequent (79-30%) HP:0002240
36 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
37 delayed skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0002750
38 abnormal dermatoglyphics63 53 typical (50%) Frequent (79-30%) HP:0007477
39 feeding difficulties in infancy63 53 typical (50%) Frequent (79-30%) HP:0008872
40 arrhythmia63 53 typical (50%) Frequent (79-30%) HP:0011675
41 intellectual disability63 25% HP:0001249
42 hypogonadism63 occasional (7.5%) HP:0000135
43 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
44 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
45 melanocytic nevus63 53 occasional (7.5%) Occasional (29-5%) HP:0000995
46 lymphedema63 53 occasional (7.5%) Occasional (29-5%) HP:0001004
47 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
48 radioulnar synostosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002974
49 clinodactyly of the 5th finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004209
50 abnormal hair quantity63 53 occasional (7.5%) Frequent (79-30%) HP:0011362
51 high palate63 53 Very frequent (99-80%) HP:0000218
52 epicanthus63 HP:0000286
53 short neck63 HP:0000470
54 myopia63 HP:0000545
55 dental malocclusion63 HP:0000689
56 shield chest63 HP:0000914
57 pectus excavatum of inferior sternum63 HP:0000915
58 superior pectus carinatum63 HP:0000917
59 failure to thrive in infancy63 HP:0001531
60 ventricular septal defect63 HP:0001629
61 atria septal defect63 HP:0001631
62 hypertrophic cardiomyopathy63 HP:0001639
63 pulmonic stenosis63 HP:0001642
64 patent ductus arteriosus63 HP:0001643
65 coarctation of aorta63 HP:0001680
66 abnormal bleeding63 53 Frequent (79-30%) HP:0001892
67 kyphoscoliosis63 HP:0002751
68 cubitus valgus63 HP:0002967
69 male infertility63 HP:0003251
70 reduced factor xii activity63 HP:0004841
71 amegakaryocytic thrombocytopenia63 HP:0004859
72 reduced factor xiii activity63 HP:0008357
73 postnatal growth retardation63 HP:0008897
74 radial deviation of finger63 HP:0009466
75 clinodactyly63 HP:0030084
76 neurofibrosarcoma63 HP:0100697
77 synovitis63 HP:0100769
78 hypogonadotrophic hypogonadism53 Very frequent (99-80%)
79 abnormality of the genital system53 Frequent (79-30%)
80 thickened helices53 Very frequent (99-80%)
81 dysarthria53 Very frequent (99-80%)
82 malformation of the heart and great vessels53 Very frequent (99-80%)
83 pulmonary artery stenosis53 Very frequent (99-80%)
84 joint hyperflexibility53 Very frequent (99-80%)
85 wide intermamillary distance53 Very frequent (99-80%)
86 aplasia of the semicircular canal53 Occasional (29-5%)
87 midface retrusion53 Very frequent (99-80%)
88 abnormal platelet function53 Frequent (79-30%)
89 abnormality of the lymphatic system53 Frequent (79-30%)

Drugs & Therapeutics for Noonan Syndrome 1

About this section

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

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ivermectinapproved, vet_approvedPhase 2, Phase 35770288-86-76474909, 46936176
Synonyms:
(2aE,4E,5'S,6S,6'R,7S,8E,11R,13R,15S,17aR,20R,20aR,20bS)-20,20b-dihydroxy-5',6,8,19-tetramethyl-6'-[(1S)-1-methylpropyl]-17-oxo-3',4',5',6,6',10,11,14,15,17,17a,20,20a,20b-tetradecahydro-2H,7H-spiro[11,15-methanofuro[4,3,2-pq][2,6]benzodioxacyclooctadecine-13,2'-pyran]-7-yl 2,6-dideoxy-4-O-(2,6-dideoxy-3-O-methyl-alpha-L-arabino-hexopyranosyl)-3-O-methyl-alpha-L-arabino-hexopyranoside
22,23-Dihydroxy-avermectin B
22,23-Dihyroavermectin B1
5-O-Demethyl-22,23-dihydro-avermectin A1a
71827-03-7
AB00513813
AC1MJ4GR
AC1N7O27
BPBio1_000322
BRD-K24652731-001-02-7
BSPBio_000292
CHEMBL341047
CID11957587
CID4330618
CID6321424
CID6419971
CID6427057
EU-0100693
FT-0082656
HMS1568O14
 
HMS2089M09
I 8898
I8898_SIGMA
IVERMECTIN
Ivermectin
Ivermectina
Ivermectine
Ivermectinum
Lopac0_000693
MK-933
MLS001333247
MLS001333248
MLS002153248
MolPort-006-394-715
NCGC00094047-01
NCGC00094047-02
NCGC00094047-03
Prestwick2_000156
Prestwick3_000156
Prestwick_516
S1351_Selleck
SMR000857211
2
SimvastatinapprovedPhase 351079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
3Hormone AntagonistsPhase 312778
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
5HormonesPhase 313979
6Anti-Infective AgentsPhase 2, Phase 321402
7Antiparasitic AgentsPhase 2, Phase 32127
8Hypolipidemic AgentsPhase 32721
9Lipid Regulating AgentsPhase 32702
10Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 31956
11AntimetabolitesPhase 311774
12Anticholesteremic AgentsPhase 31983
13
HistamineapprovedPhase 2103475614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
14
LenograstimapprovedPhase 21202135968-09-1
Synonyms:
G-CSF (CHO cell derived)
Glycosylated recombinant G-CSF
Glycosylated recombinant granulocyte colony stimulating factor
 
Granulocyte colony stimulating factor 3 (CHO cell derived)
Granulocyte colony-stimulating factor lenograstim
Lenograstim (genetical recombination)
Lenograstim rDNA
15
Histamine PhosphateapprovedPhase 2103351-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
16
ZincapprovedPhase 222317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
17Insulin, Globin ZincPhase 24523
18mometasone furoatePhase 216883919-23-7
19Histamine H1 Antagonists, Non-SedatingPhase 2354
20Neurotransmitter AgentsPhase 217734
21insulinPhase 24524
22Peripheral Nervous System AgentsPhase 222776
23Olopatadine HydrochloridePhase 251
24Hypoglycemic AgentsPhase 25733
25Antirheumatic AgentsPhase 210627
26Histamine H1 AntagonistsPhase 2782
27AnalgesicsPhase 211287
28Adjuvants, ImmunologicPhase 22484
29Anti-Allergic AgentsPhase 21490
30Analgesics, Non-NarcoticPhase 26260
31Anti-Inflammatory AgentsPhase 210355
32Dermatologic AgentsPhase 25674
33Histamine AntagonistsPhase 2946
34Anti-Inflammatory Agents, Non-SteroidalPhase 24295
35MitogensPhase 21526
36
Aluminum hydroxideapprovedPhase 120121645-51-2
Synonyms:
Al(OH)3
Aluminium hydroxide
Aluminium hydroxide gel, dried
 
Aluminium hydroxide, dried
Aluminum hydroxide gel, dried
Aluminum hydroxide, dried
Dried aluminium hydroxide
Dried aluminum hydroxide gel
37Aluminum sulfatePhase 187
38VaccinesPhase 16428
39monensin17

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan SyndromeCompletedNCT01529840Phase 3
2Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's SyndromeCompletedNCT00452725Phase 3
3Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658CompletedNCT01529944Phase 3
4Efficacy and Safety of Ivermectin Against Dengue InfectionRecruitingNCT02045069Phase 2, Phase 3
5Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan SyndromeActive, not recruitingNCT01927861Phase 3
6Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan SyndromeNot yet recruitingNCT02713945Phase 3
7G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical ResponseCompletedNCT00397423Phase 2
8To Study GSP 301 in Patients With Seasonal Allergic RhinitisCompletedNCT02318303Phase 2
9Celgosivir as a Treatment Against DengueCompletedNCT01619969Phase 1, Phase 2
10Celgosivir or Modipafant as Treatment for Adult Participants With Uncomplicated Dengue Fever in SingaporeNot yet recruitingNCT02569827Phase 1, Phase 2
11Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan SyndromeTerminatedNCT00351221Phase 2
12Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic CardiomyopathyWithdrawnNCT01556568Phase 2
13Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule StudyRecruitingNCT02937233Phase 1
14Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, TaiwanUnknown statusNCT01163123
15Study of Metabolic Modifications in Children With Noonan SyndromeCompletedNCT02383316
16Dengue Virus NS1 Antigen (Bio-Rad) Clinical ProtocolCompletedNCT01226173
17Specificity Study of Diagnostic for Early Detection of Dengue InfectionCompletedNCT02107677
18Diagnosis and Characterization of Dengue Fever in ChildrenCompletedNCT00946218
19Laboratory Diagnosis and Prognosis of Severe DengueCompletedNCT01421732
20Comparative Trial in Compression Therapy in Leg LymphedemaCompletedNCT00665379
21Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue DiagnosisRecruitingNCT02435615
22This 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 AsiaRecruitingNCT02766088
23Sensitivity Study of Diagnostic for Early Detection of Dengue InfectionActive, not recruitingNCT02059122
24Observational Prospective Study on Patients Treated With Norditropin®Enrolling by invitationNCT00960128
25Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731

Search NIH Clinical Center for Noonan Syndrome 1


Cochrane evidence based reviews: noonan syndrome

Genetic Tests for Noonan Syndrome 1

About this section

Genetic tests related to Noonan Syndrome 1:

id Genetic test Affiliating Genes
1 Noonan Syndrome 126
2 Noonan Syndrome26 24 SOS1

Anatomical Context for Noonan Syndrome 1

About this section

MalaCards organs/tissues related to Noonan Syndrome 1:

35
Heart, Skin, Testes, Spleen, Bone, Eye

Animal Models for Noonan Syndrome 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Noonan Syndrome 1:

40 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.2BRAF, IGFBP3, KRAS, NF1, NRAS, PTPN11
2MP:000537710.0BRAF, IGF1, KRAS, MAP2K1, MAP2K2, NF1
3MP:00053709.9BRAF, GHR, IGFBP3, KRAS, NF1, NRAS
4MP:00053889.9BRAF, HRAS, IGF1, KRAS, NF1, PTPN11
5MP:00053759.9BRAF, GHR, IGF1, IGFBP3, MAP2K2, PTPN11
6MP:00053919.8BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
7MP:00053819.7BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
8MP:00053699.7BRAF, GHR, IGF1, IGFBP3, KRAS, NF1
9MP:00053809.7BRAF, GHR, KRAS, MAP2K1, NF1, NRAS
10MP:00053829.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
11MP:00020069.6BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
12MP:00053979.6BRAF, GHR, IGF1, KRAS, LZTR1, NF1
13MP:00053909.4BRAF, GHR, HRAS, IGF1, KRAS, MAP2K1
14MP:00053849.3BRAF, GHR, IGF1, KRAS, MAP2K1, MAP2K2
15MP:00028739.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
16MP:00053799.2BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
17MP:00053859.0BRAF, GHR, HRAS, IGF1, KRAS, MAP2K1
18MP:00107718.9BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
19MP:00107688.9BRAF, GHR, HRAS, IGF1, KRAS, LZTR1
20MP:00053788.8BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
21MP:00053768.7BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS

Publications for Noonan Syndrome 1

About this section

Variations for Noonan Syndrome 1

About this section

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

69 (show all 34)
id Symbol AA change Variation ID SNP ID
1PTPN11p.Thr42AlaVAR_015601rs397507501
2PTPN11p.Gly60AlaVAR_015602rs397507509
3PTPN11p.Asp61GlyVAR_015603rs121918461
4PTPN11p.Asp61AsnVAR_015604rs397507510
5PTPN11p.Tyr62AspVAR_015605rs121918460
6PTPN11p.Tyr63CysVAR_015606rs121918459
7PTPN11p.Ala72GlyVAR_015607rs121918454
8PTPN11p.Ala72SerVAR_015608rs121918453
9PTPN11p.Thr73IleVAR_015609rs28933387
10PTPN11p.Glu76AspVAR_015610rs397507514
11PTPN11p.Gln79ArgVAR_015611rs121918466
12PTPN11p.Asp106AlaVAR_015612rs397507517
13PTPN11p.Glu139AspVAR_015613rs397507520
14PTPN11p.Tyr279CysVAR_015614rs121918456
15PTPN11p.Ile282ValVAR_015615rs397507529
16PTPN11p.Phe285SerVAR_015616rs121918463
17PTPN11p.Phe285LeuVAR_015617rs397507531
18PTPN11p.Asn308SerVAR_015618rs121918455
19PTPN11p.Asn308AspVAR_015619rs28933386
20PTPN11p.Arg505LysVAR_015622rs397507543
21PTPN11p.Ser506ThrVAR_015623rs121918458
22PTPN11p.Met508ValVAR_015624rs397507547
23PTPN11p.Gly507ArgVAR_016003rs397507545
24PTPN11p.Thr2IleVAR_027183rs267606990
25PTPN11p.Asn58LysVAR_027184rs397507506
26PTPN11p.Glu69GlnVAR_027185rs397507511
27PTPN11p.Gln79ProVAR_027186
28PTPN11p.Gln256ArgVAR_027187rs397507523
29PTPN11p.Thr415MetVAR_027189rs121918467
30PTPN11p.Gln510ArgVAR_027195
31PTPN11p.Leu564PheVAR_027197rs397516797
32PTPN11p.Thr59AlaVAR_066060
33PTPN11p.Pro495SerVAR_071706rs397507539
34PTPN11p.Gln514GluVAR_076499rs397507549

Clinvar genetic disease variations for Noonan Syndrome 1:

5 (show all 123)
id Gene Variation Type Significance SNP ID Assembly Location
1RAF1NM_002880.3(RAF1): c.782C> T (p.Pro261Leu)SNVPathogenicrs397516828GRCh38Chr 3, 12604188: 12604188
2RIT1NM_006912.5(RIT1): c.270G> A (p.Met90Ile)SNVPathogenicrs483352822GRCh38Chr 1, 155904470: 155904470
3KRASNM_004985.4(KRAS): c.173C> T (p.Thr58Ile)SNVPathogenicrs104894364GRCh37Chr 12, 25380285: 25380285
4SOS1NM_005633.3(SOS1): c.797C> A (p.Thr266Lys)SNVPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
5SOS1NM_005633.3(SOS1): c.806T> G (p.Met269Arg)SNVPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
6SOS1NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly)SNVPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
7SOS1NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser)SNVPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
8SOS1NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg)SNVPathogenicrs267607080GRCh37Chr 2, 39250275: 39250275
9PTPN11NM_002834.4(PTPN11): c.214G> T (p.Ala72Ser)SNVPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
10PTPN11NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly)SNVPathogenicrs121918454GRCh37Chr 12, 112888199: 112888199
11PTPN11NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp)SNVPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
12PTPN11NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser)SNVPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
13PTPN11NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys)SNVPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
14PTPN11NM_002834.4(PTPN11): c.184T> G (p.Tyr62Asp)SNVPathogenicrs121918460GRCh37Chr 12, 112888168: 112888168
15PTPN11NM_002834.4(PTPN11): c.182A> G (p.Asp61Gly)SNVPathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
16PTPN11NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met)SNVLikely pathogenic, Pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
17PTPN11NM_002834.4(PTPN11): c.1504T> A (p.Ser502Thr)SNVPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
18PTPN11NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys)SNVPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
19PTPN11NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile)SNVPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
20PTPN11NM_002834.4(PTPN11): c.854T> C (p.Phe285Ser)SNVPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
21PTPN11NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys)SNVPathogenicrs121918464GRCh37Chr 12, 112888210: 112888210
22PTPN11NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg)SNVPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
23PTPN11NM_002834.4(PTPN11): c.1232C> T (p.Thr411Met)SNVPathogenicrs121918467GRCh37Chr 12, 112924286: 112924286
24PTPN11NM_002834.4(PTPN11): c.1529A> G (p.Gln510Arg)SNVPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
25PTPN11NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del)deletionPathogenicrs80338836GRCh37Chr 12, 112888163: 112888165
26PTPN11NM_002834.4(PTPN11): c.5C> T (p.Thr2Ile)SNVPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
27NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)SNVPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
28NRASNM_002524.4(NRAS): c.179G> A (p.Gly60Glu)SNVPathogenicrs267606920GRCh37Chr 1, 115256532: 115256532
29RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)SNVPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
30RAF1NM_002880.3(RAF1): c.781C> T (p.Pro261Ser)SNVPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
31BRAFNM_004333.4(BRAF): c.1789C> G (p.Leu597Val)SNVPathogenicrs121913369GRCh37Chr 7, 140453146: 140453146
32PTPN11NM_002834.4(PTPN11): c.598A> T (p.Asn200Tyr)SNVLikely pathogenic, Pathogenicrs727503381GRCh37Chr 12, 112892440: 112892440
33KRASNM_004985.4(KRAS): c.214A> T (p.Met72Leu)SNVPathogenicrs727504662GRCh37Chr 12, 25380244: 25380244
34RIT1NM_006912.5(RIT1): c.246T> G (p.Phe82Leu)SNVPathogenicrs730881014GRCh38Chr 1, 155904494: 155904494
35RIT1NM_006912.5(RIT1): c.104G> C (p.Ser35Thr)SNVPathogenicrs869025189GRCh38Chr 1, 155910658: 155910658
36RIT1NM_006912.5(RIT1): c.229G> A (p.Ala77Thr)SNVLikely pathogenic, Pathogenicrs869025191GRCh38Chr 1, 155904739: 155904739
37RIT1NM_006912.5(RIT1): c.241G> C (p.Glu81Gln)SNVPathogenicrs869025192GRCh38Chr 1, 155904499: 155904499
38RIT1NM_006912.5(RIT1): c.242A> G (p.Glu81Gly)SNVPathogenicrs869025193GRCh38Chr 1, 155904498: 155904498
39RIT1NM_006912.5(RIT1): c.244T> A (p.Phe82Ile)SNVPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
40RIT1NM_006912.5(RIT1): c.244T> C (p.Phe82Leu)SNVPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
41RIT1NM_006912.5(RIT1): c.244T> G (p.Phe82Val)SNVPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
42RIT1NM_006912.5(RIT1): c.247A> C (p.Thr83Pro)SNVPathogenicrs869025195GRCh38Chr 1, 155904493: 155904493
43RIT1NM_006912.5(RIT1): c.265T> C (p.Tyr89His)SNVPathogenicrs869025197GRCh38Chr 1, 155904475: 155904475
44RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)SNVPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
45NRASNM_002524.4(NRAS): c.71T> A (p.Ile24Asn)SNVPathogenicrs869025573GRCh37Chr 1, 115258711: 115258711
46PTPN11NM_002834.4(PTPN11): c.181_183delGAT (p.Asp61del)deletionPathogenicrs869025574GRCh37Chr 12, 112888165: 112888167
47BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)SNVPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
48BRAFNM_004333.4(BRAF): c.722C> G (p.Thr241Arg)SNVPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
49BRAFNM_004333.4(BRAF): c.1593G> C (p.Trp531Cys)SNVPathogenicrs606231228GRCh38Chr 7, 140777013: 140777013
50NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
51KRASNM_004985.4(KRAS): c.65A> G (p.Gln22Arg)SNVLikely pathogenic, Pathogenicrs727503110GRCh37Chr 12, 25398254: 25398254
52KRASNM_004985.4(KRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
53KRASNM_004985.4(KRAS): c.458A> G (p.Asp153Gly)SNVLikely pathogenic, Pathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
54NRASNM_002524.4(NRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747
55PTPN11NM_002834.4(PTPN11): c.124A> G (p.Thr42Ala)SNVPathogenicrs397507501GRCh37Chr 12, 112884189: 112884189
56PTPN11NM_002834.4(PTPN11): c.172A> C (p.Asn58His)SNVPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
57PTPN11NM_002834.4(PTPN11): c.172A> G (p.Asn58Asp)SNVPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
58PTPN11NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys)SNVPathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
59PTPN11NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys)SNVLikely pathogenic, Pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
60PTPN11NM_002834.4(PTPN11): c.178G> A (p.Gly60Ser)SNVLikely pathogenic, Pathogenicrs397507507GRCh37Chr 12, 112888162: 112888162
61PTPN11NM_002834.4(PTPN11): c.179G> C (p.Gly60Ala)SNVPathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
62PTPN11NM_002834.4(PTPN11): c.205G> C (p.Glu69Gln)SNVPathogenicrs397507511GRCh37Chr 12, 112888189: 112888189
63PTPN11NM_002834.4(PTPN11): c.211T> C (p.Phe71Leu)SNVLikely pathogenic, Pathogenicrs397507512GRCh37Chr 12, 112888195: 112888195
64PTPN11NM_002834.4(PTPN11): c.214G> C (p.Ala72Pro)SNVLikely pathogenic, Pathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
65PTPN11NM_002834.4(PTPN11): c.228G> T (p.Glu76Asp)SNVPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
66PTPN11NM_002834.4(PTPN11): c.228G> C (p.Glu76Asp)SNVPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
67PTPN11NM_002834.4(PTPN11): c.317A> C (p.Asp106Ala)SNVPathogenicrs397507517GRCh37Chr 12, 112888301: 112888301
68PTPN11NM_002834.4(PTPN11): c.328G> A (p.Glu110Lys)SNVPathogenicrs397507518GRCh37Chr 12, 112888312: 112888312
69PTPN11NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp)SNVPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
70PTPN11NM_002834.4(PTPN11): c.781C> T (p.Leu261Phe)SNVLikely pathogenic, Pathogenicrs397507525GRCh37Chr 12, 112910772: 112910772
71PTPN11NM_002834.4(PTPN11): c.785T> G (p.Leu262Arg)SNVPathogenicrs397507526GRCh37Chr 12, 112910776: 112910776
72PTPN11NM_002834.4(PTPN11): c.794G> A (p.Arg265Gln)SNVLikely pathogenic, Pathogenicrs376607329GRCh37Chr 12, 112910785: 112910785
73PTPN11NM_002834.4(PTPN11): c.802G> T (p.Gly268Cys)SNVLikely pathogenic, Pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
74PTPN11NM_002834.4(PTPN11): c.844A> G (p.Ile282Val)SNVPathogenicrs397507529GRCh37Chr 12, 112910835: 112910835
75PTPN11NM_002834.4(PTPN11): c.846C> G (p.Ile282Met)SNVLikely pathogenic, Pathogenicrs397507530GRCh37Chr 12, 112910837: 112910837
76PTPN11NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu)SNVPathogenicrs397507531GRCh37Chr 12, 112910844: 112910844
77PTPN11NM_002834.4(PTPN11): c.854T> G (p.Phe285Cys)SNVPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
78PTPN11NM_002834.4(PTPN11): c.923A> C (p.Asn308Thr)SNVPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
79PTPN11NM_002834.4(PTPN11): c.1471C> A (p.Pro491Thr)SNVPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
80PTPN11NM_002834.4(PTPN11): c.1471C> T (p.Pro491Ser)SNVPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
81PTPN11NM_002834.4(PTPN11): c.1472C> A (p.Pro491His)SNVPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
82PTPN11NM_002834.4(PTPN11): c.1472C> T (p.Pro491Leu)SNVPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
83PTPN11NM_002834.4(PTPN11): c.1502G> A (p.Arg501Lys)SNVPathogenicrs397507543GRCh37Chr 12, 112926882: 112926882
84PTPN11NM_002834.4(PTPN11): c.1505C> T (p.Ser502Leu)SNVPathogenicrs397507544GRCh37Chr 12, 112926885: 112926885
85PTPN11NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg)SNVPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
86PTPN11NM_002834.4(PTPN11): c.1507G> A (p.Gly503Arg)SNVPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
87PTPN11NM_002834.4(PTPN11): c.1510A> G (p.Met504Val)SNVPathogenicrs397507547GRCh37Chr 12, 112926890: 112926890
88RAF1NM_002880.3(RAF1): c.524A> G (p.His175Arg)SNVPathogenicrs397516822GRCh37Chr 3, 12650322: 12650322
89RAF1NM_002880.3(RAF1): c.768G> T (p.Arg256Ser)SNVLikely pathogenic, Pathogenicrs397516826GRCh37Chr 3, 12645701: 12645701
90RAF1NM_002880.3(RAF1): c.769T> C (p.Ser257Pro)SNVLikely pathogenic, Pathogenicrs727505017GRCh37Chr 3, 12645700: 12645700
91RAF1NM_002880.3(RAF1): c.775T> A (p.Ser259Thr)SNVLikely pathogenic, Pathogenicrs3730271GRCh37Chr 3, 12645694: 12645694
92RAF1NM_002880.3(RAF1): c.781C> A (p.Pro261Thr)SNVPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
93RAF1NM_002880.3(RAF1): c.781C> G (p.Pro261Ala)SNVLikely pathogenic, Pathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
94RAF1NM_002880.3(RAF1): c.782C> G (p.Pro261Arg)SNVPathogenicrs397516828GRCh37Chr 3, 12645687: 12645687
95RAF1NM_002880.3(RAF1): c.788T> G (p.Val263Gly)SNVLikely pathogenic, Pathogenicrs397516830GRCh37Chr 3, 12645681: 12645681
96RAF1NM_002880.3(RAF1): c.1082G> C (p.Gly361Ala)SNVLikely pathogenic, Pathogenicrs397516813GRCh37Chr 3, 12641216: 12641216
97SOS1NM_005633.3(SOS1): c.322G> A (p.Glu108Lys)SNVLikely pathogenic, Pathogenicrs397517164GRCh37Chr 2, 39285837: 39285837
98SOS1NM_005633.3(SOS1): c.508A> G (p.Lys170Glu)SNVPathogenicrs397517172GRCh37Chr 2, 39283845: 39283845
99SOS1NM_005633.3(SOS1): c.806T> C (p.Met269Thr)SNVPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
100SOS1NM_005633.3(SOS1): c.1297G> A (p.Glu433Lys)SNVPathogenicrs397517147GRCh37Chr 2, 39250272: 39250272
101SOS1NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg)SNVPathogenicrs397517148GRCh37Chr 2, 39250269: 39250269
102SOS1NM_005633.3(SOS1): c.1322G> A (p.Cys441Tyr)SNVPathogenicrs727504295GRCh37Chr 2, 39250247: 39250247
103SOS1NM_005633.3(SOS1): c.1642A> C (p.Ser548Arg)SNVPathogenicrs397517149GRCh37Chr 2, 39249927: 39249927
104SOS1NM_005633.3(SOS1): c.1649T> C (p.Leu550Pro)SNVPathogenicrs397517153GRCh37Chr 2, 39249920: 39249920
105SOS1NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr)SNVPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
106SOS1NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys)SNVPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
107SOS1NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser)SNVPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
108SOS1NM_005633.3(SOS1): c.2104T> C (p.Tyr702His)SNVPathogenicrs727505381GRCh37Chr 2, 39240664: 39240664
109SOS1NM_005633.3(SOS1): c.2183A> T (p.Lys728Ile)SNVPathogenicrs397517156GRCh37Chr 2, 39239474: 39239474
110SOS1NM_005633.3(SOS1): c.2536G> A (p.Glu846Lys)SNVPathogenicrs397517159GRCh37Chr 2, 39234309: 39234309
111PTPN11NM_002834.4(PTPN11): c.209A> G (p.Lys70Arg)SNVLikely pathogenic, Pathogenicrs397516801GRCh37Chr 12, 112888193: 112888193
112PTPN11NM_002834.4(PTPN11): c.217_218delACinsCT (p.Thr73Leu)indelPathogenicrs397516802GRCh37Chr 12, 112888201: 112888202
113PTPN11NM_002834.4(PTPN11): c.774G> T (p.Glu258Asp)SNVLikely pathogenic, Pathogenicrs397516809GRCh37Chr 12, 112910765: 112910765
114PTPN11NM_002834.4(PTPN11): c.855T> G (p.Phe285Leu)SNVPathogenicrs397516810GRCh37Chr 12, 112915456: 112915456
115RAF1NM_002880.3(RAF1): c.786T> A (p.Asn262Lys)SNVPathogenicrs397516829GRCh37Chr 3, 12645683: 12645683
116BRAFNM_004333.4(BRAF): c.722C> A (p.Thr241Lys)SNVPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
117KRASNM_033360.3(KRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs121913240GRCh37Chr 12, 25380276: 25380276
118KRASNM_004985.4(KRAS): c.466T> G (p.Phe156Val)SNVLikely pathogenic, Pathogenicrs397517042GRCh37Chr 12, 25362830: 25362830
119SOS1NM_005633.3(SOS1): c.1310T> C (p.Ile437Thr)SNVPathogenicrs397517150GRCh37Chr 2, 39250259: 39250259
120SOS1NM_005633.3(SOS1): c.925G> T (p.Asp309Tyr)SNVPathogenicrs397517180GRCh37Chr 2, 39262581: 39262581
121RIT1NM_006912.5(RIT1): c.170C> G (p.Ala57Gly)SNVPathogenicrs672601334GRCh37Chr 1, 155874589: 155874589
122RIT1NM_006912.5(RIT1): c.284G> C (p.Gly95Ala)SNVPathogenicrs672601335GRCh37Chr 1, 155874247: 155874247
123SHOC2NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly)SNVLikely pathogenic, Pathogenicrs267607048GRCh37Chr 10, 112724120: 112724120

Expression for genes affiliated with Noonan Syndrome 1

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

Pathways for genes affiliated with Noonan Syndrome 1

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

(show all 49)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7HRAS, MAP2K1, PTPN11, RAF1, SOS1, SOS2
29.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
3
Show member pathways
9.7BRAF, MAP2K1, MAP2K2, NF1, RAF1, RASA2
49.6BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1
59.6HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
69.6HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
7
Show member pathways
9.6HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
8
Show member pathways
9.6HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
9
Show member pathways
9.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
109.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
11
Show member pathways
9.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
129.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
13
Show member pathways
9.5HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
14
Show member pathways
9.5HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
15
Show member pathways
9.5HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
169.4BRAF, MAP2K1, MAP2K2, NF1, RAF1, RASA2
179.4BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
189.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
19
Show member pathways
9.4HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
20
Show member pathways
9.4HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
21
Show member pathways
9.4HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
22
Show member pathways
9.4HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
23
Show member pathways
9.4HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
24
Show member pathways
9.4HRAS, IGF1, IGFBP3, MAP2K1, MAP2K2, RAF1
25
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
26
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
27
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
28
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
299.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
30
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
31
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
32
Show member pathways
9.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
33
Show member pathways
9.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
34
Show member pathways
9.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
35
Show member pathways
9.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
36
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
37
Show member pathways
9.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
38
Show member pathways
9.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
39
Show member pathways
9.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
409.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
419.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
429.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
439.1GHR, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
449.1BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
459.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
469.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
47
Show member pathways
9.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
48
Show member pathways
8.7BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
49
Show member pathways
8.6BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2

GO Terms for genes affiliated with Noonan Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor ternary complexGO:004256710.9IGF1, IGFBP3
2insulin-like growth factor binding protein complexGO:001694210.9IGF1, IGFBP3
3Golgi apparatusGO:00057949.9HRAS, LZTR1, MAP2K1, MAP2K2, NRAS, RAF1
4cytosolGO:00058299.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1forebrain astrocyte developmentGO:002189711.0KRAS, NF1
2positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.9MAP2K1, MAP2K2
3proteolysis in other organismGO:003589710.9MAP2K1, MAP2K2
4regulation of Golgi inheritanceGO:009017010.9MAP2K1, MAP2K2
5regulation of stress-activated MAPK cascadeGO:003287210.9MAP2K1, MAP2K2
6Bergmann glial cell differentiationGO:006002010.9MAP2K1, PTPN11
7positive regulation of small GTPase mediated signal transductionGO:005105710.9SOS1, SOS2
8cerebellar cortex formationGO:002169710.8MAP2K1, PTPN11
9epithelial cell proliferation involved in lung morphogenesisGO:006050210.8MAP2K1, MAP2K2
10positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.8IGF1, IGFBP3
11positive regulation of axonogenesisGO:005077210.7BRAF, MAP2K1, MAP2K2
12regulation of axon regenerationGO:004867910.7BRAF, MAP2K1, MAP2K2
13insulin-like growth factor receptor signaling pathwayGO:004800910.7GHR, IGF1
14trachea formationGO:006044010.7MAP2K1, MAP2K2
15neurotrophin TRK receptor signaling pathwayGO:004801110.7PTPN11, RAF1, SOS1
16regulation of early endosome to late endosome transportGO:200064110.6MAP2K1, MAP2K2
17response to glucocorticoidGO:005138410.6GHR, IGF1, KRAS
18thyroid gland developmentGO:003087810.6BRAF, MAP2K1, MAP2K2, RAF1
19face developmentGO:006032410.6BRAF, MAP2K1, MAP2K2, RAF1
20Fc-epsilon receptor signaling pathwayGO:003809510.6HRAS, KRAS, NRAS, SOS1
21regulation of Rho protein signal transductionGO:003502310.5RAF1, SOS1, SOS2
22stimulatory C-type lectin receptor signaling pathwayGO:000222310.5HRAS, KRAS, NRAS, RAF1
23ERBB2 signaling pathwayGO:003812810.5HRAS, KRAS, NRAS, SOS1
24ERK1 and ERK2 cascadeGO:007037110.5IGF1, MAP2K1, MAP2K2
25thymus developmentGO:004853810.5BRAF, MAP2K1, MAP2K2, RAF1
26positive regulation of Ras protein signal transductionGO:004657910.4HRAS, IGF1, SHOC2
27positive regulation of MAPK cascadeGO:004341010.4HRAS, IGF1, IGFBP3
28regulation of synaptic transmission, GABAergicGO:003222810.4KRAS, NF1
29epidermal growth factor receptor signaling pathwayGO:000717310.4HRAS, KRAS, NRAS, PTPN11, SOS1
30leukocyte migrationGO:005090010.3HRAS, KRAS, NRAS, PTPN11, SOS1
31axon guidanceGO:000741110.3HRAS, KRAS, NRAS, SOS1
32regulation of long-term neuronal synaptic plasticityGO:004816910.2HRAS, KRAS, NF1
33heart developmentGO:000750710.1MAP2K1, MAP2K2, NF1, PTPN11, RAF1
34activation of MAPK activityGO:000018710.1GHR, IGF1, MAP2K1, MAP2K2, PTPN11
35regulation of multicellular organism growthGO:00400149.9GHR, IGF1, PTPN11
36negative regulation of cell proliferationGO:00082859.9HRAS, IGFBP3, MAP2K1, NF1, RAF1
37positive regulation of ERK1 and ERK2 cascadeGO:00703749.8BRAF, HRAS, MAP2K1, MAP2K2, PTPN11
38visual learningGO:00085429.8BRAF, KRAS, NF1
39Ras protein signal transductionGO:00072659.7HRAS, IGF1, KRAS, NF1, NRAS, RIT1
40signal transductionGO:00071659.6HRAS, IGF1, MAP2K1, RAF1, RASA2, RIT1
41MAPK cascadeGO:00001659.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1

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

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase activityGO:000470810.2MAP2K1, MAP2K2

Sources for Noonan Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet