MCID: NNN008
MIFTS: 64

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:
50OMIM, 11Disease Ontology, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Noonan Syndrome 1:

Name: Noonan Syndrome 1 50 11 68 25 12
Noonan Syndrome 69 22 46 23 24 52 68 48 37 66
Female Pseudo-Turner Syndrome 46 24 68
Male Turner Syndrome 46 24 68
Turner Phenotype with Normal Karyotype 24 68
Pseudo-Ullrich-Turner Syndrome 46 24
Ullrich-Noonan Syndrome 46 24
Noonan-Ehmke Syndrome 46 24
Noonan's Syndrome 24 25
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 68
 
Noonan Syndrome with Pigmented Villonodular Synovitis 68
Noonan-Like/multiple Giant Cell Lesion Syndrome 68
Turner Syndrome in Female with X Chromosome 24
Pterygium Colli Syndrome 68
Familial Turner Syndrome 24
Turner Syndrome, Male 66
Turner-Like Syndrome 24
Ns1 68
Ns 24

Characteristics:

Orphanet epidemiological data:

52
noonan syndrome:
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
noonan syndrome 1:
Inheritance: autosomal dominant inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 163950
Disease Ontology11 DOID:0060578
Orphanet52 ORPHA648
UMLS via Orphanet67 C0028326
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 D009634
MeSH37 D009634

Summaries for Noonan Syndrome 1

About this section
OMIM:50 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 Hepatitis C 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.

Disease Ontology:11 A subtype of noonan syndrome caused by heterozygous mutation in the ptpn11 gene on chromosome 12q24.

NIH Rare Diseases:46 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:68 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:24 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.

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
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 89)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome 730.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
2leukemia, acute myelomonocytic, somatic, somatic28.6HRAS, KRAS, NF1, NRAS, PTPN11, SOS1
3noonan-like/multiple giant cell lesion syndrome12.8
4neurofibromatosis-noonan syndrome12.2
5noonan syndrome with multiple lentigines12.2
6noonan syndrome 312.1
7noonan syndrome 612.1
8noonan syndrome 412.1
9noonan syndrome 512.1
10noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia12.1
11noonan syndrome 812.1
12noonan syndrome 912.0
13noonan syndrome 1012.0
14noonan syndrome 212.0
15escobar syndrome11.3
16ptpn11-related noonan syndrome10.9
17influenza10.8
18brachydactyly, type e210.7KRAS, NRAS
19follicular mucinosis10.7PTPN11, SOS1
20pulmonary venoocclusive disease10.7BRAF, KRAS
21sexual masochism10.6KRAS, RAF1
22cervical adenoid basal carcinoma10.6PTPN11, SOS1
23otof-related deafness10.5BRAF, PTPN11, RAF1
24leukoencephalopathy palmoplantar keratoderma10.5BRAF, KRAS, NRAS
25localized epiphyseal dysplasia10.5BRAF, KRAS, NRAS
26brachial plexus neuritis10.5KRAS, RAF1
27pleomorphic xanthoastrocytoma10.5BRAF, NF1
28leukemoid reaction10.4NRAS, SOS2
29diabetes mellitus, insulin-resistant, with acanthosis nigricans10.4PTPN11, RAF1, SOS1
30vagina sarcoma10.4HRAS, KRAS
31encephalitis10.4
32glomerulosclerosis10.4HRAS, KRAS
33gliofibroma10.4BRAF, NF1
34melanocytic nevus syndrome, congenital, somatic10.4HRAS, NRAS
35split hand split foot malformation autosomal recessive10.4BRAF, HRAS
36gonococcal spondylitis10.4HRAS, KRAS
37demyelinating polyneuropathy10.4HRAS, NRAS
38hypersplenism10.3BRAF, NRAS
39bladder benign neoplasm10.3KRAS, RAF1
40sublingual gland adenoid cystic carcinoma10.3HRAS, NRAS
41coloboma of macula and skeletal anomalies10.3HRAS, NRAS
42plexiform schwannoma10.3LZTR1, NF1
43avian influenza10.3
44psammomatous meningioma10.2HRAS, NRAS
45myxosarcoma10.2HRAS, KRAS
46japanese encephalitis10.2
47chronic inflammatory demyelinating polyradiculoneuropathy10.2HRAS, NRAS
48giant cell glioblastoma10.2KRAS, NF1, PTPN11
49seminal vesicle chronic gonorrhea10.2HRAS, KRAS
50epidermal nevus, somatic10.2HRAS, 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:

 52 (show all 55)
  • cryptorchidism
  • hypogonadotrophic hypogonadism
  • abnormality of the genital system
  • thick lower lip vermilion
  • high palate
  • hypertelorism
  • triangular face
  • micrognathia
  • high forehead
  • low-set, posteriorly rotated ears
  • thickened helices
  • sensorineural hearing impairment
  • webbed neck
  • thickened nuchal skin fold
  • cystic hygroma
  • strabismus
  • downslanted palpebral fissures
  • ptosis
  • proptosis
  • nystagmus
  • pectus excavatum
  • pectus carinatum
  • melanocytic nevus
  • lymphedema
  • brachydactyly syndrome
  • muscular hypotonia
  • dysarthria
  • muscle weakness
  • abnormality of the pulmonary valve
  • abnormality of the spleen
  • abnormal bleeding
  • abnormality of coagulation
  • low posterior hairline
  • neurological speech impairment
  • coarse hair
  • hepatomegaly
  • malformation of the heart and great vessels
  • scoliosis
  • delayed skeletal maturation
  • radioulnar synostosis
  • clinodactyly of the 5th finger
  • short stature
  • pulmonary artery stenosis
  • joint hyperflexibility
  • wide intermamillary distance
  • abnormal dermatoglyphics
  • feeding difficulties in infancy
  • aplasia/hypoplasia of the abdominal wall musculature
  • abnormal hair quantity
  • aplasia of the semicircular canal
  • arrhythmia
  • midface retrusion
  • abnormal platelet function
  • enlarged thorax
  • abnormality of the lymphatic system

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 cryptorchidism HP:0000028
52 high palate HP:0000218
53 epicanthus HP:0000286
54 hypertelorism HP:0000316
55 triangular face HP:0000325
56 micrognathia HP:0000347
57 low-set, posteriorly rotated ears HP:0000368
58 sensorineural hearing impairment HP:0000407
59 webbed neck HP:0000465
60 short neck HP:0000470
61 cystic hygroma HP:0000476
62 downslanted palpebral fissures HP:0000494
63 ptosis HP:0000508
64 myopia HP:0000545
65 dental malocclusion HP:0000689
66 shield chest HP:0000914
67 pectus excavatum of inferior sternum HP:0000915
68 superior pectus carinatum HP:0000917
69 lymphedema HP:0001004
70 brachydactyly syndrome HP:0001156
71 failure to thrive in infancy HP:0001531
72 ventricular septal defect HP:0001629
73 atria septal defect HP:0001631
74 hypertrophic cardiomyopathy HP:0001639
75 pulmonic stenosis HP:0001642
76 patent ductus arteriosus HP:0001643
77 coarctation of aorta HP:0001680
78 abnormal bleeding HP:0001892
79 low posterior hairline HP:0002162
80 kyphoscoliosis HP:0002751
81 cubitus valgus HP:0002967
82 male infertility HP:0003251
83 short stature HP:0004322
84 reduced factor xii activity HP:0004841
85 amegakaryocytic thrombocytopenia HP:0004859
86 reduced factor xiii activity HP:0008357
87 postnatal growth retardation HP:0008897
88 radial deviation of finger HP:0009466
89 clinodactyly HP:0030084
90 neurofibrosarcoma HP:0100697
91 synovitis HP:0100769

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IvermectinPhase 2, Phase 35470288-86-76474909, 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
SimvastatinPhase 350379902-63-954454
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
3lenograstimPhase 21178
4insulinPhase 24401
5mometasone furoatePhase 216283919-23-7
6
Histamine PhosphatePhase 2100851-74-165513
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
7
histaminePhase 2100975614-87-8, 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
8
ZincPhase 221547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
9monensin16

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
13Study of Metabolic Modifications in Children With Noonan SyndromeCompletedNCT02383316
14Dengue Virus NS1 Antigen (Bio-Rad) Clinical ProtocolCompletedNCT01226173
15Laboratory Diagnosis and Prognosis of Severe DengueCompletedNCT01421732
16Specificity Study of Diagnostic for Early Detection of Dengue InfectionCompletedNCT02107677
17Diagnosis and Characterization of Dengue Fever in ChildrenCompletedNCT00946218
18Comparative Trial in Compression Therapy in Leg LymphedemaCompletedNCT00665379
19This 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
20Sensitivity Study of Diagnostic for Early Detection of Dengue InfectionActive, not recruitingNCT02059122
21Observational Prospective Study on Patients Treated With Norditropin®Enrolling by invitationNCT00960128
22Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, TaiwanEnrolling by invitationNCT01163123
23Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731
24Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue DiagnosisNot yet recruitingNCT02435615

Search NIH Clinical Center for Noonan Syndrome 1


Cochrane evidence based reviews: noonan syndrome

Genetic Tests for Noonan Syndrome 1

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Genetic tests related to Noonan Syndrome 1:

id Genetic test Affiliating Genes
1 Noonan Syndrome 125
2 Noonan Syndrome25 23 SOS1

Anatomical Context for Noonan Syndrome 1

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MalaCards organs/tissues related to Noonan Syndrome 1:

34
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:

39 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.6BRAF, KRAS, NF1, NRAS, PTPN11
2MP:00053709.3BRAF, KRAS, NF1, NRAS, PTPN11, RAF1
3MP:00053778.2BRAF, KRAS, MAP2K1, MAP2K2, NF1, PTPN11
4MP:00053808.1BRAF, KRAS, MAP2K1, NF1, NRAS, PTPN11
5MP:00053817.8BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
6MP:00053917.4BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
7MP:00053847.3BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
8MP:00020067.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
9MP:00107717.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
10MP:00053827.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
11MP:00053907.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
12MP:00053856.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
13MP:00053796.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
14MP:00053786.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
15MP:00028736.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
16MP:00107686.5BRAF, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2
17MP:00053766.4BRAF, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2

Publications for Noonan Syndrome 1

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Variations for Noonan Syndrome 1

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

68 (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_076499

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)single nucleotide variantPathogenicrs397516828GRCh38Chr 3, 12604188: 12604188
2RIT1NM_006912.5(RIT1): c.270G> A (p.Met90Ile)single nucleotide variantPathogenicrs483352822GRCh38Chr 1, 155904470: 155904470
3KRASNM_004985.4(KRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs104894364GRCh37Chr 12, 25380285: 25380285
4SOS1NM_005633.3(SOS1): c.797C> A (p.Thr266Lys)single nucleotide variantPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
5SOS1NM_005633.3(SOS1): c.806T> G (p.Met269Arg)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
6SOS1NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly)single nucleotide variantPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
7SOS1NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
8SOS1NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg)single nucleotide variantPathogenicrs267607080GRCh37Chr 2, 39250275: 39250275
9PTPN11NM_002834.3(PTPN11): c.214G> T (p.Ala72Ser)single nucleotide variantPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
10PTPN11NM_002834.3(PTPN11): c.215C> G (p.Ala72Gly)single nucleotide variantPathogenicrs121918454GRCh37Chr 12, 112888199: 112888199
11PTPN11NM_002834.3(PTPN11): c.922A> G (p.Asn308Asp)single nucleotide variantPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
12PTPN11NM_002834.3(PTPN11): c.923A> G (p.Asn308Ser)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
13PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
14PTPN11NM_002834.3(PTPN11): c.184T> G (p.Tyr62Asp)single nucleotide variantPathogenicrs121918460GRCh37Chr 12, 112888168: 112888168
15PTPN11NM_002834.3(PTPN11): c.182A> G (p.Asp61Gly)single nucleotide variantPathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
16PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantLikely pathogenic, Pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
17PTPN11NM_002834.3(PTPN11): c.1504T> A (p.Ser502Thr)single nucleotide variantPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
18PTPN11NM_002834.3(PTPN11): c.188A> G (p.Tyr63Cys)single nucleotide variantPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
19PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
20PTPN11NM_002834.3(PTPN11): c.854T> C (p.Phe285Ser)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
21PTPN11NM_002834.3(PTPN11): c.226G> A (p.Glu76Lys)single nucleotide variantPathogenicrs121918464GRCh37Chr 12, 112888210: 112888210
22PTPN11NM_002834.3(PTPN11): c.236A> G (p.Gln79Arg)single nucleotide variantPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
23PTPN11NM_002834.3(PTPN11): c.1232C> T (p.Thr411Met)single nucleotide variantPathogenicrs121918467GRCh37Chr 12, 112924286: 112924286
24PTPN11NM_002834.3(PTPN11): c.1529A> G (p.Gln510Arg)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
25PTPN11NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del)deletionPathogenicrs80338836GRCh37Chr 12, 112888163: 112888165
26PTPN11NM_002834.3(PTPN11): c.5C> T (p.Thr2Ile)single nucleotide variantPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
27NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)single nucleotide variantPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
28NRASNM_002524.4(NRAS): c.179G> A (p.Gly60Glu)single nucleotide variantPathogenicrs267606920GRCh37Chr 1, 115256532: 115256532
29RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
30RAF1NM_002880.3(RAF1): c.781C> T (p.Pro261Ser)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
31BRAFNM_004333.4(BRAF): c.1789C> G (p.Leu597Val)single nucleotide variantPathogenicrs121913369GRCh37Chr 7, 140453146: 140453146
32PTPN11NM_002834.3(PTPN11): c.598A> T (p.Asn200Tyr)single nucleotide variantPathogenicrs727503381GRCh37Chr 12, 112892440: 112892440
33KRASNM_004985.4(KRAS): c.214A> T (p.Met72Leu)single nucleotide variantPathogenicrs727504662GRCh38Chr 12, 25227310: 25227310
34RIT1NM_006912.5(RIT1): c.246T> G (p.Phe82Leu)single nucleotide variantPathogenicrs730881014GRCh38Chr 1, 155904494: 155904494
35RIT1NM_006912.5(RIT1): c.104G> C (p.Ser35Thr)single nucleotide variantPathogenicrs869025189GRCh38Chr 1, 155910658: 155910658
36RIT1NM_006912.5(RIT1): c.241G> C (p.Glu81Gln)single nucleotide variantPathogenicrs869025192GRCh38Chr 1, 155904499: 155904499
37RIT1NM_006912.5(RIT1): c.242A> G (p.Glu81Gly)single nucleotide variantPathogenicrs869025193GRCh38Chr 1, 155904498: 155904498
38RIT1NM_006912.5(RIT1): c.244T> A (p.Phe82Ile)single nucleotide variantPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
39RIT1NM_006912.5(RIT1): c.244T> C (p.Phe82Leu)single nucleotide variantPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
40RIT1NM_006912.5(RIT1): c.244T> G (p.Phe82Val)single nucleotide variantPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
41RIT1NM_006912.5(RIT1): c.247A> C (p.Thr83Pro)single nucleotide variantPathogenicrs869025195GRCh38Chr 1, 155904493: 155904493
42RIT1NM_006912.5(RIT1): c.265T> C (p.Tyr89His)single nucleotide variantPathogenicrs869025197GRCh38Chr 1, 155904475: 155904475
43RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
44NRASNM_002524.4(NRAS): c.71T> A (p.Ile24Asn)single nucleotide variantPathogenicrs869025573GRCh37Chr 1, 115258711: 115258711
45PTPN11NM_002834.3(PTPN11): c.181_183delGAT (p.Asp61del)deletionPathogenicrs869025574GRCh37Chr 12, 112888165: 112888167
46BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
47BRAFNM_004333.4(BRAF): c.722C> G (p.Thr241Arg)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
48BRAFNM_004333.4(BRAF): c.1593G> C (p.Trp531Cys)single nucleotide variantPathogenicrs606231228GRCh38Chr 7, 140777013: 140777013
49NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
50KRASNM_004985.4(KRAS): c.65A> G (p.Gln22Arg)single nucleotide variantLikely pathogenic, Pathogenicrs727503110GRCh37Chr 12, 25398254: 25398254
51KRASNM_004985.4(KRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
52KRASNM_033360.3(KRAS): c.*12A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
53NRASNM_002524.4(NRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747
54PTPN11NM_002834.3(PTPN11): c.124A> G (p.Thr42Ala)single nucleotide variantPathogenicrs397507501GRCh37Chr 12, 112884189: 112884189
55PTPN11NM_002834.3(PTPN11): c.172A> C (p.Asn58His)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
56PTPN11NM_002834.3(PTPN11): c.172A> G (p.Asn58Asp)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
57PTPN11NM_002834.3(PTPN11): c.174C> A (p.Asn58Lys)single nucleotide variantPathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
58PTPN11NM_002834.3(PTPN11): c.174C> G (p.Asn58Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
59PTPN11NM_002834.3(PTPN11): c.178G> A (p.Gly60Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507507GRCh37Chr 12, 112888162: 112888162
60PTPN11NM_002834.3(PTPN11): c.179G> C (p.Gly60Ala)single nucleotide variantPathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
61PTPN11NM_002834.3(PTPN11): c.205G> C (p.Glu69Gln)single nucleotide variantPathogenicrs397507511GRCh37Chr 12, 112888189: 112888189
62PTPN11NM_002834.3(PTPN11): c.211T> C (p.Phe71Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397507512GRCh37Chr 12, 112888195: 112888195
63PTPN11NM_080601.1(PTPN11): c.214G> C (p.Ala72Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
64PTPN11NM_002834.3(PTPN11): c.228G> T (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
65PTPN11NM_002834.3(PTPN11): c.228G> C (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
66PTPN11NM_002834.3(PTPN11): c.317A> C (p.Asp106Ala)single nucleotide variantPathogenicrs397507517GRCh37Chr 12, 112888301: 112888301
67PTPN11NM_002834.3(PTPN11): c.328G> A (p.Glu110Lys)single nucleotide variantPathogenicrs397507518GRCh37Chr 12, 112888312: 112888312
68PTPN11NM_002834.3(PTPN11): c.417G> C (p.Glu139Asp)single nucleotide variantPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
69PTPN11NM_002834.3(PTPN11): c.781C> T (p.Leu261Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507525GRCh37Chr 12, 112910772: 112910772
70PTPN11NM_002834.3(PTPN11): c.785T> G (p.Leu262Arg)single nucleotide variantPathogenicrs397507526GRCh37Chr 12, 112910776: 112910776
71PTPN11NM_002834.3(PTPN11): c.794G> A (p.Arg265Gln)single nucleotide variantLikely pathogenic, Pathogenicrs376607329GRCh37Chr 12, 112910785: 112910785
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 variantPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
81PTPN11NM_002834.3(PTPN11): c.1472C> T (p.Pro491Leu)single nucleotide variantPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
82PTPN11NM_080601.1(PTPN11): c.*2445G> Asingle nucleotide variantPathogenicrs397507543GRCh37Chr 12, 112926882: 112926882
83PTPN11NM_002834.3(PTPN11): c.1505C> T (p.Ser502Leu)single nucleotide variantPathogenicrs397507544GRCh37Chr 12, 112926885: 112926885
84PTPN11NM_002834.3(PTPN11): c.1507G> C (p.Gly503Arg)single nucleotide variantPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
85PTPN11NM_002834.3(PTPN11): c.1507G> A (p.Gly503Arg)single nucleotide variantPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
86PTPN11NM_002834.3(PTPN11): c.1510A> G (p.Met504Val)single nucleotide variantPathogenicrs397507547GRCh37Chr 12, 112926890: 112926890
87RAF1NM_002880.3(RAF1): c.524A> G (p.His175Arg)single nucleotide variantPathogenicrs397516822GRCh37Chr 3, 12650322: 12650322
88RAF1NM_002880.3(RAF1): c.768G> T (p.Arg256Ser)single nucleotide variantPathogenicrs397516826GRCh37Chr 3, 12645701: 12645701
89RAF1NM_002880.3(RAF1): c.769T> C (p.Ser257Pro)single nucleotide variantLikely pathogenic, Pathogenicrs727505017GRCh37Chr 3, 12645700: 12645700
90RAF1NM_002880.3(RAF1): c.775T> A (p.Ser259Thr)single nucleotide variantLikely pathogenic, Pathogenicrs3730271GRCh37Chr 3, 12645694: 12645694
91RAF1NM_002880.3(RAF1): c.781C> A (p.Pro261Thr)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
92RAF1NM_002880.3(RAF1): c.781C> G (p.Pro261Ala)single nucleotide variantLikely pathogenic, Pathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
93RAF1NM_002880.3(RAF1): c.782C> G (p.Pro261Arg)single nucleotide variantPathogenicrs397516828GRCh37Chr 3, 12645687: 12645687
94RAF1NM_002880.3(RAF1): c.788T> G (p.Val263Gly)single nucleotide variantLikely pathogenic, Pathogenicrs397516830GRCh37Chr 3, 12645681: 12645681
95RAF1NM_002880.3(RAF1): c.1082G> C (p.Gly361Ala)single nucleotide variantLikely pathogenic, Pathogenicrs397516813GRCh37Chr 3, 12641216: 12641216
96SOS1NM_005633.3(SOS1): c.322G> A (p.Glu108Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397517164GRCh37Chr 2, 39285837: 39285837
97SOS1NM_005633.3(SOS1): c.508A> G (p.Lys170Glu)single nucleotide variantPathogenicrs397517172GRCh37Chr 2, 39283845: 39283845
98SOS1NM_005633.3(SOS1): c.806T> C (p.Met269Thr)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
99SOS1NM_005633.3(SOS1): c.1297G> A (p.Glu433Lys)single nucleotide variantPathogenicrs397517147GRCh37Chr 2, 39250272: 39250272
100SOS1NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg)single nucleotide variantPathogenicrs397517148GRCh37Chr 2, 39250269: 39250269
101SOS1NM_005633.3(SOS1): c.1322G> A (p.Cys441Tyr)single nucleotide variantPathogenicrs727504295GRCh37Chr 2, 39250247: 39250247
102SOS1NM_005633.3(SOS1): c.1642A> C (p.Ser548Arg)single nucleotide variantPathogenicrs397517149GRCh37Chr 2, 39249927: 39249927
103SOS1NM_005633.3(SOS1): c.1649T> C (p.Leu550Pro)single nucleotide variantPathogenicrs397517153GRCh37Chr 2, 39249920: 39249920
104SOS1NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
105SOS1NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
106SOS1NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
107SOS1NM_005633.3(SOS1): c.2104T> C (p.Tyr702His)single nucleotide variantPathogenicrs727505381GRCh37Chr 2, 39240664: 39240664
108SOS1NM_005633.3(SOS1): c.2183A> T (p.Lys728Ile)single nucleotide variantPathogenicrs397517156GRCh37Chr 2, 39239474: 39239474
109SOS1NM_005633.3(SOS1): c.2536G> A (p.Glu846Lys)single nucleotide variantPathogenicrs397517159GRCh37Chr 2, 39234309: 39234309
110PTPN11NM_002834.3(PTPN11): c.209A> G (p.Lys70Arg)single nucleotide variantLikely pathogenic, Pathogenicrs397516801GRCh37Chr 12, 112888193: 112888193
111PTPN11NM_002834.3(PTPN11): c.217_218delACinsCT (p.Thr73Leu)indelPathogenicrs397516802GRCh37Chr 12, 112888201: 112888202
112PTPN11NM_002834.3(PTPN11): c.774G> T (p.Glu258Asp)single nucleotide variantLikely pathogenic, Pathogenicrs397516809GRCh37Chr 12, 112910765: 112910765
113PTPN11NM_002834.3(PTPN11): c.802G> A (p.Gly268Ser)single nucleotide variantLikely pathogenic, Pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
114PTPN11NM_002834.3(PTPN11): c.855T> G (p.Phe285Leu)single nucleotide variantPathogenicrs397516810GRCh37Chr 12, 112915456: 112915456
115RAF1NM_002880.3(RAF1): c.786T> A (p.Asn262Lys)single nucleotide variantPathogenicrs397516829GRCh37Chr 3, 12645683: 12645683
116BRAFNM_004333.4(BRAF): c.722C> A (p.Thr241Lys)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
117KRASNM_033360.3(KRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs121913240GRCh37Chr 12, 25380276: 25380276
118KRASNM_033360.3(KRAS): c.*20T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs397517042GRCh37Chr 12, 25362830: 25362830
119SOS1NM_005633.3(SOS1): c.1310T> C (p.Ile437Thr)single nucleotide variantPathogenicrs397517150GRCh37Chr 2, 39250259: 39250259
120SOS1NM_005633.3(SOS1): c.925G> T (p.Asp309Tyr)single nucleotide variantPathogenicrs397517180GRCh37Chr 2, 39262581: 39262581
121RIT1NM_006912.5(RIT1): c.170C> G (p.Ala57Gly)single nucleotide variantPathogenicrs672601334GRCh37Chr 1, 155874589: 155874589
122RIT1NM_006912.5(RIT1): c.284G> C (p.Gly95Ala)single nucleotide variantPathogenicrs672601335GRCh37Chr 1, 155874247: 155874247
123SHOC2NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly)single nucleotide variantLikely 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 top 50)    (show all 185)
idSuper pathwaysScoreTop Affiliating Genes
18.3BRAF, HRAS, KRAS, NRAS, RAF1, SOS1
2
Show member pathways
7.9HRAS, MAP2K1, PTPN11, RAF1, SOS1, SOS2
37.8BRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1
47.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
57.7HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
6
Show member pathways
7.6BRAF, MAP2K1, MAP2K2, NF1, RAF1, RASA2
77.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
87.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
9
Show member pathways
7.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
107.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
11
Show member pathways
7.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
12
Show member pathways
7.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
137.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
147.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
15
Show member pathways
7.4HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1
16
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
17
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
18
Show member pathways
7.2HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1
197.0BRAF, MAP2K1, MAP2K2, NF1, RAF1, RASA2
207.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
21
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
22
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
236.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
24
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
25
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
26
Show member pathways
6.9HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11
27
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
286.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
296.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
30
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
31
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
32
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
33
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
34
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
35
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
36
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
37
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
38
Show member pathways
6.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
396.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
40
Show member pathways
6.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
41
Show member pathways
6.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
42
Show member pathways
6.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
43
Show member pathways
6.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
446.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS
45
Show member pathways
6.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
46
Show member pathways
6.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
476.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
485.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
49
Show member pathways
5.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
50
Show member pathways
5.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1

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
1intrinsic component of the cytoplasmic side of the plasma membraneGO:003123510.0NF1, RASA2
2Golgi apparatusGO:00057947.6HRAS, LZTR1, MAP2K1, MAP2K2, NRAS, RAF1
3cytosolGO:00058295.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1

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:005105710.5SOS1, SOS2
2forebrain astrocyte developmentGO:002189710.5KRAS, NF1
3neurotrophin TRK receptor signaling pathwayGO:004801110.2PTPN11, RAF1, SOS1
4Bergmann glial cell differentiationGO:006002010.1MAP2K1, PTPN11
5cerebellar cortex formationGO:002169710.0MAP2K1, PTPN11
6regulation of Rho protein signal transductionGO:003502310.0RAF1, SOS1, SOS2
7regulation of synaptic transmission, GABAergicGO:00322289.9KRAS, NF1
8positive regulation of production of miRNAs involved in gene silencing by miRNAGO:19038009.9MAP2K1, MAP2K2
9proteolysis in other organismGO:00358979.9MAP2K1, MAP2K2
10regulation of Golgi inheritanceGO:00901709.9MAP2K1, MAP2K2
11regulation of stress-activated MAPK cascadeGO:00328729.9MAP2K1, MAP2K2
12epithelial cell proliferation involved in lung morphogenesisGO:00605029.8MAP2K1, MAP2K2
13trachea formationGO:00604409.7MAP2K1, MAP2K2
14Fc-epsilon receptor signaling pathwayGO:00380959.7HRAS, KRAS, NRAS, SOS1
15stimulatory C-type lectin receptor signaling pathwayGO:00022239.6HRAS, KRAS, NRAS, RAF1
16ERBB2 signaling pathwayGO:00381289.6HRAS, KRAS, NRAS, SOS1
17regulation of early endosome to late endosome transportGO:20006419.6MAP2K1, MAP2K2
18positive regulation of axonogenesisGO:00507729.5BRAF, MAP2K1, MAP2K2
19regulation of axon regenerationGO:00486799.5BRAF, MAP2K1, MAP2K2
20visual learningGO:00085429.5BRAF, KRAS, NF1
21epidermal growth factor receptor signaling pathwayGO:00071739.4HRAS, KRAS, NRAS, PTPN11, SOS1
22regulation of long-term neuronal synaptic plasticityGO:00481699.3HRAS, KRAS, NF1
23thyroid gland developmentGO:00308789.2BRAF, MAP2K1, MAP2K2, RAF1
24face developmentGO:00603249.2BRAF, MAP2K1, MAP2K2, RAF1
25leukocyte migrationGO:00509009.2HRAS, KRAS, NRAS, PTPN11, SOS1
26thymus developmentGO:00485389.1BRAF, MAP2K1, MAP2K2, RAF1
27axon guidanceGO:00074119.1HRAS, KRAS, NRAS, SOS1
28positive regulation of gene expressionGO:00106288.9BRAF, HRAS, KRAS, MAP2K1
29activation of MAPK activityGO:00001878.8MAP2K1, MAP2K2, PTPN11
30Ras protein signal transductionGO:00072658.6HRAS, KRAS, NF1, NRAS, RIT1, SOS1
31positive regulation of GTPase activityGO:00435478.5HRAS, NF1, RASA2, SOS1, SOS2
32heart developmentGO:00075078.4MAP2K1, MAP2K2, NF1, PTPN11, RAF1
33positive regulation of ERK1 and ERK2 cascadeGO:00703748.1BRAF, HRAS, MAP2K1, MAP2K2, PTPN11
34signal transductionGO:00071657.4HRAS, MAP2K1, RAF1, RASA2, RIT1, SOS1
35MAPK cascadeGO:00001656.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:003126710.4BRAF, RAF1
2MAP kinase kinase activityGO:00047089.7MAP2K1, MAP2K2
3mitogen-activated protein kinase kinase bindingGO:00314349.7BRAF, RAF1
4protein serine/threonine kinase activator activityGO:00435399.5MAP2K1, MAP2K2
5protein serine/threonine kinase activityGO:00046748.6BRAF, MAP2K1, MAP2K2, RAF1

Sources for Noonan Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet