MCID: NNN008
MIFTS: 63

Noonan Syndrome 1 malady

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

Aliases & Classifications for Noonan Syndrome 1

About this section
Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 24GTR, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Noonan Syndrome 1:

Name: Noonan Syndrome 1 49 11 67 24
Noonan Syndrome 10 68 21 45 22 23 47 12 51 67 36 24 65
Female Pseudo-Turner Syndrome 45 23 67
Male Turner Syndrome 45 23 67
Turner's Phenotype, Karyotype Normal 10 23
Pseudo-Ullrich-Turner Syndrome 45 23
Ullrich-Noonan Syndrome 45 23
Noonan-Ehmke Syndrome 45 23
Turner-Like Syndrome 68 23
 
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 67
Noonan Syndrome with Pigmented Villonodular Synovitis 67
Noonan-Like/multiple Giant Cell Lesion Syndrome 67
Turner Syndrome in Female with X Chromosome 23
Turner Phenotype with Normal Karyotype 67
Pterygium Colli Syndrome 67
Familial Turner Syndrome 23
Turner Syndrome, Male 65
Ns1 67

Characteristics:

Orphanet epidemiological data:

51
noonan syndrome:
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

61
noonan syndrome 1:
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 163950
Disease Ontology10 DOID:3490
ICD1027 Q87.1
MeSH36 D009634
Orphanet51 648
UMLS via Orphanet66 C0028326
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 D009634
UMLS65 C0028326, C0041409

Summaries for Noonan Syndrome 1

About this section
OMIM:49 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 EGFR Transactivation by Gastrin and Development_Leptin signaling via JAK/STAT and MAPK cascades. Affiliated tissues include heart, skin and testes, and related mouse phenotypes are pigmentation and liver/biliary system.

NIH Rare Diseases:45 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 mutations in any one of several genes including the ptpn11, kras, raf1, sos1, nras and braf genes. it is sometimes referred to as a specific subtype based on the responsible gene in an affected person. noonan syndrome 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. last updated: 6/2/2015

UniProtKB/Swiss-Prot:67 Noonan syndrome 1: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints.

Genetics Home Reference:23 Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

GeneReviews summary 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
Rit1-Related Noonan Syndrome Braf-Related Noonan Syndrome
Kras-Related Noonan Syndrome Map2k1-Related Noonan Syndrome
Nras-Related Noonan Syndrome Ptpn11-Related Noonan Syndrome
Raf1-Related Noonan Syndrome Sos1-Related Noonan Syndrome

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome 733.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
2leukemia, acute myelomonocytic, somatic, somatic30.8HRAS, KRAS, NF1, NRAS, PTPN11, SHOC2
3noonan-like/multiple giant cell lesion syndrome13.0
4noonan syndrome 312.5
5neurofibromatosis-noonan syndrome12.5
6noonan syndrome 612.5
7noonan syndrome 412.5
8noonan syndrome 512.5
9noonan syndrome 812.4
10noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia12.4
11noonan syndrome with multiple lentigines12.4
12noonan syndrome 912.4
13noonan syndrome 1012.4
14escobar syndrome11.7
15ptpn11-related noonan syndrome11.3
16nuclear gene-encoded leigh syndrome10.6BRAF, PTPN11, RAF1
17metachondromatosis10.6BRAF, PTPN11, RAF1
18cataract-intellectual disability-hypogonadism syndrome10.6BRAF, KRAS
19melanocytic nevus syndrome, congenital, somatic10.6HRAS, NRAS
20tetrasomy 12p10.6HRAS, KRAS, NRAS
21sigmoid disease10.6HRAS, KRAS, NRAS
22diabetic encephalopathy10.6HRAS, KRAS, NRAS
23epidermal nevus, somatic10.6HRAS, KRAS, NRAS
24chronic inflammatory demyelinating polyradiculoneuropathy10.6HRAS, KRAS, NRAS
25schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.6HRAS, KRAS, NRAS
26mucosal melanoma10.6HRAS, KRAS, NRAS
27eccrine papillary adenocarcinoma10.6HRAS, KRAS, NRAS
28erythrasma10.6HRAS, KRAS, NRAS
29precursor lymphoblastic lymphoma/leukemia10.6HRAS, KRAS, NRAS
30ovarian serous cystadenocarcinoma10.6HRAS, KRAS, NRAS
31sweat gland cancer10.6HRAS, KRAS, NRAS
32anterior horn cell disease10.6HRAS, KRAS, NRAS
33ovarian mucinous adenocarcinoma10.6HRAS, KRAS, NRAS
34migraine with aura10.6HRAS, KRAS, NRAS
35malignant giant cell tumor of soft parts10.6HRAS, KRAS, NRAS
36pneumonic plague10.6HRAS, KRAS, NRAS
37small intestine leiomyoma10.6HRAS, KRAS, NRAS
38malignant fibroxanthoma10.6HRAS, KRAS, NRAS
39serous surface papilloma10.6HRAS, KRAS, NRAS
40pilocytic astrocytoma10.6BRAF, NF1
41corticosterone methyloxidase deficiency10.6HRAS, KRAS, NRAS
42osteoclast-like giant cell neoplasm of the pancreas10.6HRAS, KRAS, NRAS
43pseudoachondroplastic dysplasia 210.6PTPN11, RAF1, RIT1, SOS1
44watson syndrome10.5MAP2K2, NF1, PTPN11
45mucinous stomach adenocarcinoma10.5HRAS, KRAS, NRAS
46biliary tract intraductal papillary mucinous neoplasm10.5HRAS, KRAS, NRAS
47head and neck carcinoma10.5HRAS, KRAS, NRAS
48congenital structural myopathy10.5HRAS, KRAS, NRAS
49gallbladder leiomyosarcoma10.5HRAS, KRAS, NRAS
50cavernous hemangioma10.5HRAS, KRAS, NRAS

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

Symptoms:

 51 (show all 57)
  • high forehead
  • triangular face
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ptosis
  • anomalies of mouth, lip and philtrum
  • thick lips
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • webbed neck/pterygium colli
  • excess nuchal skin without pterygium colli
  • cystic hygroma
  • wide rib cage/thorax
  • abnormally placed nipples
  • pectus carinatum
  • pectus excavatum
  • absent/hypotonic/flaccid abdominal wall muscles
  • pulmonary valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • late puberty/hypogonadism/hypogenitalism
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • muscle weakness/flaccidity
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • strabismus/squint
  • scoliosis
  • abnormal dermatoglyphics
  • coarse/thick hair
  • low hair line (back)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • structural and functional anomalies of the spleen
  • cardiac rhythm disorder/arrhythmia
  • anomalies of the lymphatic system
  • structural anomalies of the genital system
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypotonia
  • delayed bone age
  • platelets function anomaly
  • clotting/hemostasis disorders
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • nystagmus
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • radioulnar synostosis
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • pigmented naevi/naevus pigmentosus/lentigo
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • lymphedema

HPO human phenotypes related to Noonan Syndrome 1:

(show all 91)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 malar flattening hallmark (90%) HP:0000272
4 hypertelorism hallmark (90%) HP:0000316
5 triangular face hallmark (90%) HP:0000325
6 micrognathia hallmark (90%) HP:0000347
7 high forehead hallmark (90%) HP:0000348
8 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
9 webbed neck hallmark (90%) HP:0000465
10 thickened nuchal skin fold hallmark (90%) HP:0000474
11 cystic hygroma hallmark (90%) HP:0000476
12 downslanted palpebral fissures hallmark (90%) HP:0000494
13 ptosis hallmark (90%) HP:0000508
14 proptosis hallmark (90%) HP:0000520
15 pectus excavatum hallmark (90%) HP:0000767
16 pectus carinatum hallmark (90%) HP:0000768
17 muscle weakness hallmark (90%) HP:0001324
18 joint hypermobility hallmark (90%) HP:0001382
19 abnormality of the pulmonary valve hallmark (90%) HP:0001641
20 neurological speech impairment hallmark (90%) HP:0002167
21 short stature hallmark (90%) HP:0004322
22 abnormality of the nipple hallmark (90%) HP:0004404
23 abnormality of the pulmonary artery hallmark (90%) HP:0004414
24 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
25 abnormality of the helix hallmark (90%) HP:0011039
26 enlarged thorax hallmark (90%) HP:0100625
27 cryptorchidism typical (50%) HP:0000028
28 strabismus typical (50%) HP:0000486
29 muscular hypotonia typical (50%) HP:0001252
30 abnormality of the spleen typical (50%) HP:0001743
31 abnormality of thrombocytes typical (50%) HP:0001872
32 abnormality of coagulation typical (50%) HP:0001928
33 low posterior hairline typical (50%) HP:0002162
34 coarse hair typical (50%) HP:0002208
35 hepatomegaly typical (50%) HP:0002240
36 scoliosis typical (50%) HP:0002650
37 delayed skeletal maturation typical (50%) HP:0002750
38 abnormal dermatoglyphics typical (50%) HP:0007477
39 feeding difficulties in infancy typical (50%) HP:0008872
40 arrhythmia typical (50%) HP:0011675
41 intellectual disability 25% HP:0001249
42 hypogonadism occasional (7.5%) HP:0000135
43 sensorineural hearing impairment occasional (7.5%) HP:0000407
44 nystagmus occasional (7.5%) HP:0000639
45 melanocytic nevus occasional (7.5%) HP:0000995
46 lymphedema occasional (7.5%) HP:0001004
47 brachydactyly syndrome occasional (7.5%) HP:0001156
48 radioulnar synostosis occasional (7.5%) HP:0002974
49 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
50 abnormal hair quantity occasional (7.5%) HP:0011362
51 synovitis HP:0100769
52 neurofibrosarcoma HP:0100697
53 clinodactyly HP:0030084
54 radial deviation of finger HP:0009466
55 postnatal growth retardation HP:0008897
56 reduced factor xiii activity HP:0008357
57 amegakaryocytic thrombocytopenia HP:0004859
58 reduced factor xii activity HP:0004841
59 short stature HP:0004322
60 male infertility HP:0003251
61 cubitus valgus HP:0002967
62 kyphoscoliosis HP:0002751
63 low posterior hairline HP:0002162
64 abnormal bleeding HP:0001892
65 coarctation of aorta HP:0001680
66 patent ductus arteriosus HP:0001643
67 pulmonic stenosis HP:0001642
68 hypertrophic cardiomyopathy HP:0001639
69 atria septal defect HP:0001631
70 ventricular septal defect HP:0001629
71 failure to thrive in infancy HP:0001531
72 brachydactyly syndrome HP:0001156
73 lymphedema HP:0001004
74 superior pectus carinatum HP:0000917
75 pectus excavatum of inferior sternum HP:0000915
76 shield chest HP:0000914
77 dental malocclusion HP:0000689
78 myopia HP:0000545
79 ptosis HP:0000508
80 downslanted palpebral fissures HP:0000494
81 cystic hygroma HP:0000476
82 short neck HP:0000470
83 webbed neck HP:0000465
84 sensorineural hearing impairment HP:0000407
85 low-set, posteriorly rotated ears HP:0000368
86 micrognathia HP:0000347
87 triangular face HP:0000325
88 hypertelorism HP:0000316
89 epicanthus HP:0000286
90 high palate HP:0000218
91 cryptorchidism HP:0000028

Drugs & Therapeutics for Noonan Syndrome 1

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

(show all 36)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IvermectinapprovedPhase 2, Phase 34770288-86-76474909, 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
Sklice
Soolantra
Stromectol
2
SimvastatinapprovedPhase 349379902-63-954454
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 310002
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
5HormonesPhase 311748
6Antiparasitic AgentsPhase 2, Phase 31854
7Anti-Infective AgentsPhase 2, Phase 317220
8Hypolipidemic AgentsPhase 32228
9Anticholesteremic AgentsPhase 31732
10Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 31804
11AntimetabolitesPhase 39454
12
Histamine PhosphateapprovedPhase 290651-74-165513
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 Positive Skin Test Control
Histamine Positive skin test control
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
13
ZincapprovedPhase 214777440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
14Neurotransmitter AgentsPhase 214795
15mometasone furoatePhase 214483919-23-7
16Histamine H1 Antagonists, Non-SedatingPhase 2323
17lenograstimPhase 21134
18Olopatadine HydrochloridePhase 250
19Adjuvants, ImmunologicPhase 21783
20Peripheral Nervous System AgentsPhase 218510
21Immunologic FactorsPhase 218483
22Dermatologic AgentsPhase 24555
23Histamine H1 AntagonistsPhase 2688
24Analgesics, Non-NarcoticPhase 25184
25AnalgesicsPhase 29358
26Anti-Inflammatory AgentsPhase 28478
27Anti-Allergic AgentsPhase 21312
28Anti-Inflammatory Agents, Non-SteroidalPhase 23549
29Histamine AntagonistsPhase 2826
30
histaminePhase 290675614-87-8, 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
31Antirheumatic AgentsPhase 28496
32Insulin, Globin ZincPhase 24278
33insulinPhase 24278
34MitogensPhase 21386
35Hypoglycemic AgentsPhase 24503
36monensin15

Interventional clinical trials:

(show all 24)
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
7To Study GSP 301 in Patients With Seasonal Allergic RhinitisCompletedNCT02318303Phase 2
8Celgosivir as a Treatment Against DengueCompletedNCT01619969Phase 1, Phase 2
9G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical ResponseCompletedNCT00397423Phase 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
13Dengue Virus NS1 Antigen (Bio-Rad) Clinical ProtocolCompletedNCT01226173
14Specificity Study of Diagnostic for Early Detection of Dengue InfectionCompletedNCT02107677
15Diagnosis and Characterization of Dengue Fever in ChildrenCompletedNCT00946218
16Comparative Trial in Compression Therapy in Leg LymphedemaCompletedNCT00665379
17Study of Metabolic Modifications in Children With Noonan SyndromeRecruitingNCT02383316
18Laboratory Diagnosis and Prognosis of Severe DengueRecruitingNCT01421732
19Sensitivity Study of Diagnostic for Early Detection of Dengue InfectionActive, not recruitingNCT02059122
20Observational Prospective Study on Patients Treated With Norditropin®Enrolling by invitationNCT00960128
21Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, TaiwanEnrolling by invitationNCT01163123
22Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731
23Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue DiagnosisNot yet recruitingNCT02435615
24This 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 AsiaNot yet recruitingNCT02766088

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 Syndrome22 SOS1

Anatomical Context for Noonan Syndrome 1

About this section

MalaCards organs/tissues related to Noonan Syndrome 1:

33
Heart, Skin, Testes, Bone, Spleen, Liver, Eye

Animal Models for Noonan Syndrome 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Noonan Syndrome 1:

38 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.1BRAF, IGFBP3, KRAS, NF1, NRAS, PTPN11
2MP:00053709.8BRAF, GHR, IGFBP3, KRAS, NF1, NRAS
3MP:00053819.8BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
4MP:00053889.8BRAF, HRAS, IGF1, KRAS, NF1, PTPN11
5MP:00053919.7BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
6MP:00053779.6BRAF, IGF1, KRAS, MAP2K1, MAP2K2, NF1
7MP:00053809.5BRAF, GHR, KRAS, MAP2K1, NF1, NRAS
8MP:00020069.5BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
9MP:00053699.5BRAF, GHR, IGF1, IGFBP3, KRAS, NF1
10MP:00053829.3BRAF, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2
11MP:00053979.2BRAF, GHR, IGF1, KRAS, LZTR1, NF1
12MP:00028739.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
13MP:00053849.1BRAF, GHR, IGF1, KRAS, MAP2K1, MAP2K2
14MP:00053909.0BRAF, GHR, HRAS, IGF1, KRAS, MAP2K1
15MP:00053798.9BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
16MP:00053858.8BRAF, GHR, HRAS, IGF1, KRAS, MAP2K1
17MP:00107718.7BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
18MP:00107688.7BRAF, GHR, HRAS, IGF1, KRAS, LZTR1
19MP:00053788.6BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
20MP:00053768.5BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS

Publications for Noonan Syndrome 1

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Variations for Noonan Syndrome 1

About this section

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

67 (show all 33)
id Symbol AA change Variation ID SNP ID
1PTPN11p.Thr42AlaVAR_015601
2PTPN11p.Gly60AlaVAR_015602
3PTPN11p.Asp61GlyVAR_015603
4PTPN11p.Asp61AsnVAR_015604
5PTPN11p.Tyr62AspVAR_015605
6PTPN11p.Tyr63CysVAR_015606
7PTPN11p.Ala72GlyVAR_015607
8PTPN11p.Ala72SerVAR_015608
9PTPN11p.Thr73IleVAR_015609rs28933387
10PTPN11p.Glu76AspVAR_015610
11PTPN11p.Gln79ArgVAR_015611
12PTPN11p.Asp106AlaVAR_015612
13PTPN11p.Glu139AspVAR_015613
14PTPN11p.Tyr279CysVAR_015614
15PTPN11p.Ile282ValVAR_015615
16PTPN11p.Phe285SerVAR_015616
17PTPN11p.Phe285LeuVAR_015617
18PTPN11p.Asn308SerVAR_015618
19PTPN11p.Asn308AspVAR_015619
20PTPN11p.Arg505LysVAR_015622
21PTPN11p.Ser506ThrVAR_015623
22PTPN11p.Met508ValVAR_015624
23PTPN11p.Gly507ArgVAR_016003
24PTPN11p.Thr2IleVAR_027183
25PTPN11p.Asn58LysVAR_027184
26PTPN11p.Glu69GlnVAR_027185
27PTPN11p.Gln79ProVAR_027186
28PTPN11p.Gln256ArgVAR_027187
29PTPN11p.Thr415MetVAR_027189
30PTPN11p.Gln510ArgVAR_027195
31PTPN11p.Leu564PheVAR_027197
32PTPN11p.Thr59AlaVAR_066060
33PTPN11p.Pro495SerVAR_071706

Clinvar genetic disease variations for Noonan Syndrome 1:

5 (show all 107)
id Gene Variation Type Significance SNP ID Assembly Location
1SOS1NM_005633.3(SOS1): c.797C> A (p.Thr266Lys)single nucleotide variantPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
2SOS1NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly)single nucleotide variantPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
3SOS1NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
4PTPN11NM_002834.3(PTPN11): c.214G> T (p.Ala72Ser)single nucleotide variantPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
5PTPN11NM_002834.3(PTPN11): c.215C> G (p.Ala72Gly)single nucleotide variantPathogenicrs121918454GRCh37Chr 12, 112888199: 112888199
6PTPN11NM_002834.3(PTPN11): c.922A> G (p.Asn308Asp)single nucleotide variantPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
7PTPN11NM_002834.3(PTPN11): c.923A> G (p.Asn308Ser)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
8PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
9PTPN11NM_002834.3(PTPN11): c.184T> G (p.Tyr62Asp)single nucleotide variantPathogenicrs121918460GRCh37Chr 12, 112888168: 112888168
10PTPN11NM_002834.3(PTPN11): c.182A> G (p.Asp61Gly)single nucleotide variantPathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
11PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantLikely pathogenic, Pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
12PTPN11NM_002834.3(PTPN11): c.1504T> A (p.Ser502Thr)single nucleotide variantPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
13PTPN11NM_002834.3(PTPN11): c.188A> G (p.Tyr63Cys)single nucleotide variantPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
14PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
15PTPN11NM_002834.3(PTPN11): c.854T> C (p.Phe285Ser)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
16PTPN11NM_002834.3(PTPN11): c.226G> A (p.Glu76Lys)single nucleotide variantPathogenicrs121918464GRCh37Chr 12, 112888210: 112888210
17PTPN11NM_002834.3(PTPN11): c.227A> G (p.Glu76Gly)single nucleotide variantLikely pathogenic, Pathogenicrs121918465GRCh37Chr 12, 112888211: 112888211
18PTPN11NM_002834.3(PTPN11): c.236A> G (p.Gln79Arg)single nucleotide variantPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
19PTPN11NM_002834.3(PTPN11): c.1232C> T (p.Thr411Met)single nucleotide variantPathogenicrs121918467GRCh37Chr 12, 112924286: 112924286
20PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
21PTPN11NM_002834.3(PTPN11): c.1391G> C (p.Gly464Ala)single nucleotide variantPathogenicrs121918469GRCh37Chr 12, 112926258: 112926258
22PTPN11NM_002834.3(PTPN11): c.1529A> C (p.Gln510Pro)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
23PTPN11NM_002834.3(PTPN11): c.1529A> G (p.Gln510Arg)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
24PTPN11NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del)deletionPathogenicrs80338836GRCh37Chr 12, 112888163: 112888165
25PTPN11NM_002834.3(PTPN11): c.5C> T (p.Thr2Ile)single nucleotide variantPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
26NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)single nucleotide variantPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
27NRASNM_002524.4(NRAS): c.179G> A (p.Gly60Glu)single nucleotide variantPathogenicrs267606920GRCh37Chr 1, 115256532: 115256532
28RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
29BRAFNM_004333.4(BRAF): c.1789C> G (p.Leu597Val)single nucleotide variantPathogenicrs121913369GRCh37Chr 7, 140453146: 140453146
30RAF1NM_002880.3(RAF1): c.1172G> T (p.Arg391Met)single nucleotide variantLikely pathogenicrs587782972GRCh37Chr 3, 12633228: 12633228
31PTPN11NM_002834.3(PTPN11): c.598A> T (p.Asn200Tyr)single nucleotide variantLikely pathogenicrs727503381GRCh38Chr 12, 112454636: 112454636
32PTPN11NM_002834.3(PTPN11): c.182A> C (p.Asp61Ala)single nucleotide variantLikely pathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
33RIT1NM_006912.5(RIT1): c.246T> G (p.Phe82Leu)single nucleotide variantPathogenicrs730881014GRCh38Chr 1, 155904494: 155904494
34RIT1NM_006912.5(RIT1): c.104G> C (p.Ser35Thr)single nucleotide variantPathogenicrs869025189GRCh38Chr 1, 155910658: 155910658
35RIT1NM_006912.5(RIT1): c.151G> T (p.Asp51Tyr)single nucleotide variantLikely pathogenicrs869025190GRCh38Chr 1, 155910462: 155910462
36RIT1NM_006912.5(RIT1): c.229G> A (p.Ala77Thr)single nucleotide variantLikely pathogenicrs869025191GRCh38Chr 1, 155904739: 155904739
37RIT1NM_006912.5(RIT1): c.241G> C (p.Glu81Gln)single nucleotide variantPathogenicrs869025192GRCh37Chr 1, 155874290: 155874290
38RIT1NM_006912.5(RIT1): c.242A> G (p.Glu81Gly)single nucleotide variantPathogenicrs869025193GRCh38Chr 1, 155904498: 155904498
39RIT1NM_006912.5(RIT1): c.244T> A (p.Phe82Ile)single nucleotide variantPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
40RIT1NM_006912.5(RIT1): c.244T> C (p.Phe82Leu)single nucleotide variantPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
41RIT1NM_006912.5(RIT1): c.244T> G (p.Phe82Val)single nucleotide variantPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
42RIT1NM_006912.5(RIT1): c.247A> C (p.Thr83Pro)single nucleotide variantPathogenicrs869025195GRCh38Chr 1, 155904493: 155904493
43RIT1NM_006912.5(RIT1): c.251C> T (p.Ala84Val)single nucleotide variantLikely pathogenicrs869025196GRCh38Chr 1, 155904489: 155904489
44RIT1NM_006912.5(RIT1): c.265T> C (p.Tyr89His)single nucleotide variantPathogenicrs869025197GRCh38Chr 1, 155904475: 155904475
45NRASNM_002524.4(NRAS): c.71T> A (p.Ile24Asn)single nucleotide variantPathogenicrs869025573GRCh37Chr 1, 115258711: 115258711
46PTPN11NM_002834.3(PTPN11): c.181_183delGAT (p.Asp61del)deletionPathogenicrs869025574GRCh37Chr 12, 112888165: 112888167
47PTPN11NM_002834.3(PTPN11): c.1174G> A (p.Ala392Thr)single nucleotide variantLikely pathogenicrs774356443GRCh37Chr 12, 112919959: 112919959
48BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
49BRAFNM_004333.4(BRAF): c.722C> G (p.Thr241Arg)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
50BRAFNM_004333.4(BRAF): c.1593G> C (p.Trp531Cys)single nucleotide variantPathogenicrs606231228GRCh38Chr 7, 140777013: 140777013
51NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
52PTPN11NM_002834.3(PTPN11): c.124A> G (p.Thr42Ala)single nucleotide variantPathogenicrs397507501GRCh37Chr 12, 112884189: 112884189
53PTPN11NM_002834.3(PTPN11): c.172A> C (p.Asn58His)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
54PTPN11NM_002834.3(PTPN11): c.172A> G (p.Asn58Asp)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
55PTPN11NM_002834.3(PTPN11): c.174C> A (p.Asn58Lys)single nucleotide variantPathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
56PTPN11NM_002834.3(PTPN11): c.174C> G (p.Asn58Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
57PTPN11NM_002834.3(PTPN11): c.178G> A (p.Gly60Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507507GRCh37Chr 12, 112888162: 112888162
58PTPN11NM_002834.3(PTPN11): c.179G> C (p.Gly60Ala)single nucleotide variantPathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
59PTPN11NM_002834.3(PTPN11): c.181G> A (p.Asp61Asn)single nucleotide variantPathogenicrs397507510GRCh37Chr 12, 112888165: 112888165
60PTPN11NM_002834.3(PTPN11): c.205G> C (p.Glu69Gln)single nucleotide variantPathogenicrs397507511GRCh37Chr 12, 112888189: 112888189
61PTPN11NM_002834.3(PTPN11): c.211T> C (p.Phe71Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397507512GRCh37Chr 12, 112888195: 112888195
62PTPN11NM_002834.3(PTPN11): c.214G> C (p.Ala72Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
63PTPN11NM_002834.3(PTPN11): c.228G> T (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
64PTPN11NM_002834.3(PTPN11): c.228G> C (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
65PTPN11NM_002834.3(PTPN11): c.317A> C (p.Asp106Ala)single nucleotide variantPathogenicrs397507517GRCh37Chr 12, 112888301: 112888301
66PTPN11NM_002834.3(PTPN11): c.328G> A (p.Glu110Lys)single nucleotide variantPathogenicrs397507518GRCh37Chr 12, 112888312: 112888312
67PTPN11NM_002834.3(PTPN11): c.417G> T (p.Glu139Asp)single nucleotide variantPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
68PTPN11NM_002834.3(PTPN11): c.417G> C (p.Glu139Asp)single nucleotide variantPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
69PTPN11NM_002834.3(PTPN11): c.767A> G (p.Gln256Arg)single nucleotide variantLikely pathogenic, Pathogenicrs397507523GRCh37Chr 12, 112910758: 112910758
70PTPN11NM_002834.3(PTPN11): c.781C> T (p.Leu261Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507525GRCh37Chr 12, 112910772: 112910772
71PTPN11NM_002834.3(PTPN11): c.785T> G (p.Leu262Arg)single nucleotide variantPathogenicrs397507526GRCh37Chr 12, 112910776: 112910776
72PTPN11NM_002834.3(PTPN11): c.802G> T (p.Gly268Cys)single nucleotide variantLikely pathogenic, Pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
73PTPN11NM_002834.3(PTPN11): c.844A> G (p.Ile282Val)single nucleotide variantPathogenicrs397507529GRCh37Chr 12, 112910835: 112910835
74PTPN11NM_002834.3(PTPN11): c.846C> G (p.Ile282Met)single nucleotide variantLikely pathogenic, Pathogenicrs397507530GRCh37Chr 12, 112910837: 112910837
75PTPN11NM_002834.3(PTPN11): c.853T> C (p.Phe285Leu)single nucleotide variantPathogenicrs397507531GRCh37Chr 12, 112910844: 112910844
76PTPN11NM_002834.3(PTPN11): c.854T> G (p.Phe285Cys)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
77PTPN11NM_002834.3(PTPN11): c.923A> C (p.Asn308Thr)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
78PTPN11NM_002834.3(PTPN11): c.1471C> A (p.Pro491Thr)single nucleotide variantPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
79PTPN11NM_002834.3(PTPN11): c.1471C> T (p.Pro491Ser)single nucleotide variantPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
80PTPN11NM_002834.3(PTPN11): c.1472C> A (p.Pro491His)single nucleotide variantLikely pathogenic, Pathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
81PTPN11NM_002834.3(PTPN11): c.1472C> T (p.Pro491Leu)single nucleotide variantPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
82PTPN11NM_002834.3(PTPN11): c.1492C> T (p.Arg498Trp)single nucleotide variantPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
83PTPN11NM_002834.3(PTPN11): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
84PTPN11NM_002834.3(PTPN11): c.1502G> A (p.Arg501Lys)single nucleotide variantPathogenicrs397507543GRCh37Chr 12, 112926882: 112926882
85PTPN11NM_002834.3(PTPN11): c.1504T> G (p.Ser502Ala)single nucleotide variantPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
86PTPN11NM_002834.3(PTPN11): c.1505C> T (p.Ser502Leu)single nucleotide variantPathogenicrs397507544GRCh37Chr 12, 112926885: 112926885
87PTPN11NM_002834.3(PTPN11): c.1507G> C (p.Gly503Arg)single nucleotide variantPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
88PTPN11NM_002834.3(PTPN11): c.1507G> A (p.Gly503Arg)single nucleotide variantPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
89PTPN11NM_002834.3(PTPN11): c.1510A> G (p.Met504Val)single nucleotide variantPathogenicrs397507547GRCh37Chr 12, 112926890: 112926890
90PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
91PTPN11NM_002834.3(PTPN11): c.1528C> G (p.Gln510Glu)single nucleotide variantPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
92RAF1NM_002880.3(RAF1): c.452T> C (p.Phe151Ser)single nucleotide variantLikely pathogenicrs587782971GRCh37Chr 3, 12650394: 12650394
93RAF1NM_002880.3(RAF1): c.788T> G (p.Val263Gly)single nucleotide variantLikely pathogenic, Pathogenicrs397516830GRCh37Chr 3, 12645681: 12645681
94SOS1NM_005633.3(SOS1): c.806T> C (p.Met269Thr)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
95SOS1NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
96SOS1NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
97SOS1NM_005633.3(SOS1): c.2104T> C (p.Tyr702His)single nucleotide variantPathogenicrs727505381GRCh37Chr 2, 39240664: 39240664
98PTPN11NM_002834.3(PTPN11): c.1226G> C (p.Gly409Ala)single nucleotide variantPathogenicrs201247699GRCh37Chr 12, 112924280: 112924280
99PTPN11NM_002834.3(PTPN11): c.217_218delACinsCT (p.Thr73Leu)indelPathogenicrs397516802GRCh37Chr 12, 112888201: 112888202
100PTPN11NM_002834.3(PTPN11): c.235C> A (p.Gln79Lys)single nucleotide variantLikely pathogenicrs397516803GRCh37Chr 12, 112888219: 112888219
101PTPN11NM_002834.3(PTPN11): c.774G> T (p.Glu258Asp)single nucleotide variantLikely pathogenic, Pathogenicrs397516809GRCh37Chr 12, 112910765: 112910765
102PTPN11NM_002834.3(PTPN11): c.802G> A (p.Gly268Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
103PTPN11NM_002834.3(PTPN11): c.855T> G (p.Phe285Leu)single nucleotide variantPathogenicrs397516810GRCh37Chr 12, 112915456: 112915456
104SOS1NM_005633.3(SOS1): c.1310T> C (p.Ile437Thr)single nucleotide variantPathogenicrs397517150GRCh37Chr 2, 39250259: 39250259
105RIT1NM_006912.5(RIT1): c.170C> G (p.Ala57Gly)single nucleotide variantPathogenicrs672601334GRCh37Chr 1, 155874589: 155874589
106RIT1NM_006912.5(RIT1): c.284G> C (p.Gly95Ala)single nucleotide variantPathogenicrs672601335GRCh37Chr 1, 155874247: 155874247
107SHOC2NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly)single nucleotide variantLikely pathogenic, Pathogenicrs267607048GRCh37Chr 10, 112724120: 112724120

Cosmic variations for Noonan Syndrome 1:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM584NRASskin,neck,benign melanocytic nevus,congenital1

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 top 50)    (show all 176)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7HRAS, IGF1, KRAS, NRAS, SOS1
2
Show member pathways
9.6HRAS, MAP2K1, PTPN11, RAF1, SOS1, SOS2
39.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
49.5BRAF, HRAS, KRAS, NRAS, RAF1, SOS1
59.5BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1
69.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
79.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
8
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
9
Show member pathways
9.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
109.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
11
Show member pathways
9.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
12
Show member pathways
9.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
139.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
14
Show member pathways
9.3HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
15
Show member pathways
9.3HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
16
Show member pathways
9.3HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
17
Show member pathways
9.2BRAF, MAP2K1, MAP2K2, NF1, RAF1, RASA2
189.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
19
Show member pathways
9.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
20
Show member pathways
9.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
21
Show member pathways
9.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
22
Show member pathways
9.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
23
Show member pathways
9.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
24
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
25
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
26
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
279.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
28
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
29
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
30
Show member pathways
9.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
31
Show member pathways
9.1HRAS, IGF1, IGFBP3, MAP2K1, MAP2K2, RAF1
32
Show member pathways
9.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
33
Show member pathways
9.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
34
Show member pathways
9.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
35
Show member pathways
9.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
369.0HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
37
Show member pathways
9.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
38
Show member pathways
9.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
39
Show member pathways
9.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
40
Show member pathways
9.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
41
Show member pathways
9.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
42
Show member pathways
9.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
439.0BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
448.9GHR, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
458.9BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
468.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
47
Show member pathways
8.8BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
488.8BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
49
Show member pathways
8.4BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
50
Show member pathways
8.3BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2

GO Terms for genes affiliated with Noonan Syndrome 1

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of small GTPase mediated signal transductionGO:005105710.9SOS1, SOS2
2forebrain astrocyte developmentGO:002189710.9KRAS, NF1
3positive regulation of axonogenesisGO:005077210.9BRAF, MAP2K1
4cerebellar cortex formationGO:002169710.8MAP2K1, PTPN11
5epithelial cell proliferation involved in lung morphogenesisGO:006050210.8MAP2K1, MAP2K2
6regulation of synaptic transmission, GABAergicGO:003222810.8KRAS, NF1
7insulin-like growth factor receptor signaling pathwayGO:004800910.8GHR, IGF1
8regulation of axon regenerationGO:004867910.7BRAF, MAP2K1, MAP2K2
9cellular senescenceGO:009039810.7HRAS, MAP2K1
10phosphatidylinositol 3-kinase signalingGO:001406510.7IGF1, NF1
11stimulatory C-type lectin receptor signaling pathwayGO:000222310.6HRAS, KRAS, NRAS
12negative regulation of neuron apoptotic processGO:004352410.6BRAF, HRAS, KRAS
13regulation of Rho protein signal transductionGO:003502310.6RAF1, SOS1, SOS2
14activation of MAPK activityGO:000018710.5MAP2K1, MAP2K2, PTPN11
15response to glucocorticoidGO:005138410.5GHR, IGF1, KRAS
16ERK1 and ERK2 cascadeGO:007037110.5IGF1, MAP2K1
17ERBB2 signaling pathwayGO:003812810.5HRAS, KRAS, NRAS, SOS1
18positive regulation of MAPK cascadeGO:004341010.4HRAS, IGF1, IGFBP3
19thymus developmentGO:004853810.4BRAF, MAP2K1, MAP2K2, RAF1
20regulation of multicellular organism growthGO:004001410.4GHR, IGF1, PTPN11
21negative regulation of gene expressionGO:001062910.3HRAS, MAP2K1, MAP2K2
22Ras protein signal transductionGO:000726510.1BRAF, IGF1, MAP2K1, MAP2K2, RAF1
23leukocyte migrationGO:005090010.1HRAS, KRAS, NRAS, PTPN11
24small GTPase mediated signal transductionGO:000726410.0HRAS, MAP2K1, NF1, RASA2, SOS2
25MAPK cascadeGO:000016510.0HRAS, KRAS, NF1, NRAS, RASA2, SOS1
26regulation of long-term neuronal synaptic plasticityGO:00481699.9HRAS, KRAS, NF1
27axon guidanceGO:00074119.9BRAF, HRAS, KRAS, RAF1, SOS1
28epidermal growth factor receptor signaling pathwayGO:00071739.8BRAF, HRAS, KRAS, MAP2K1, NF1, PTPN11
29activation of MAPKK activityGO:00001869.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
30vascular endothelial growth factor receptor signaling pathwayGO:00480109.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
31fibroblast growth factor receptor signaling pathwayGO:00085439.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
32insulin receptor signaling pathwayGO:00082869.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
33neurotrophin TRK receptor signaling pathwayGO:00480119.1BRAF, HRAS, KRAS, MAP2K1, NF1, NRAS
34innate immune responseGO:00450878.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
35signal transductionGO:00071658.8BRAF, HRAS, IGF1, NF1, NRAS, RAF1

Sources for Noonan Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet