NS3
MCID: NNN010
MIFTS: 52

Noonan Syndrome 3 (NS3)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Noonan Syndrome 3

Summaries for Noonan Syndrome 3

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Noonan Syndrome 3, also known as ns3, is related to hepatitis c virus and hepatitis c. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. Affiliated tissues include heart, skin and skeletal muscle, and related phenotypes are frontal bossing and ptosis

OMIM®: 57 Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (609942) (Updated 08-Dec-2022)

Disease Ontology: 11 A Noonan syndrome that has material basis in heterozygous mutation in the KRAS gene.

Related Diseases for Noonan Syndrome 3

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10 Noonan Syndrome 11
Noonan Syndrome 12 Noonan Syndrome 13
Noonan Syndrome 14

Diseases related to Noonan Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 hepatitis c virus 11.2
2 hepatitis c 11.2
3 dengue disease 11.0
4 dengue virus 11.0
5 hepatitis 11.0
6 zika fever 10.8
7 west nile virus 10.8
8 encephalitis 10.7
9 viral infectious disease 10.6
10 japanese encephalitis 10.6
11 yellow fever 10.6
12 vaccinia 10.6
13 liver cirrhosis 10.6
14 diarrhea 10.5
15 microcephaly 10.4
16 viral encephalitis 10.4
17 dengue hemorrhagic fever 10.4
18 tick-borne encephalitis 10.4
19 guillain-barre syndrome, familial 10.4
20 guillain-barre syndrome 10.4
21 helix syndrome 10.4
22 liver disease 10.4
23 trachea carcinoma in situ 10.3 KRAS HRAS
24 keratosis pilaris atrophicans faciei 10.3 SOS1 PTPN11
25 common bile duct neoplasm 10.3 KRAS HRAS
26 villonodular synovitis 10.3 SOS1 PTPN11
27 ampulla of vater benign neoplasm 10.3 KRAS HRAS
28 bladder urachal carcinoma 10.3 KRAS HRAS
29 hepatic flexure cancer 10.3 KRAS HRAS
30 vaginal carcinosarcoma 10.3 KRAS HRAS
31 urachus cancer 10.3 KRAS HRAS
32 cutaneous-skeletal hypophosphatemia syndrome 10.3 LRRC56 HRAS
33 adenosquamous lung carcinoma 10.3 KRAS HRAS
34 descending colon cancer 10.3 KRAS HRAS
35 mucinous intrahepatic cholangiocarcinoma 10.3 KRAS HRAS
36 hepatocellular carcinoma 10.3
37 chronic bilirubin encephalopathy 10.3
38 sigmoid neoplasm 10.3 KRAS HRAS
39 appendiceal neoplasm 10.3 KRAS HRAS
40 melanocytic nevus syndrome, congenital 10.3 LRRC56 HRAS
41 pancreatic mucinous cystadenoma 10.3 KRAS HRAS
42 transverse colon cancer 10.3 KRAS HRAS
43 testicular spermatocytic seminoma 10.3 PTPN11 HRAS
44 liver angiosarcoma 10.3 KRAS HRAS
45 ascending colon cancer 10.3 KRAS HRAS
46 mucinous lung adenocarcinoma 10.3 KRAS HRAS
47 skin granular cell tumor 10.3 SOS1 PTPN11
48 dengue shock syndrome 10.3
49 oto-palatal-digital syndrome 10.3
50 cystadenofibroma 10.3 KRAS HRAS

Graphical network of the top 20 diseases related to Noonan Syndrome 3:



Diseases related to Noonan Syndrome 3

Symptoms & Phenotypes for Noonan Syndrome 3

Human phenotypes related to Noonan Syndrome 3:

30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 30 Very rare (1%) HP:0002007
2 ptosis 30 Very rare (1%) HP:0000508
3 nystagmus 30 Very rare (1%) HP:0000639
4 high palate 30 Very rare (1%) HP:0000218
5 global developmental delay 30 Very rare (1%) HP:0001263
6 hypertelorism 30 Very rare (1%) HP:0000316
7 pectus carinatum 30 Very rare (1%) HP:0000768
8 short nose 30 Very rare (1%) HP:0003196
9 anteverted nares 30 Very rare (1%) HP:0000463
10 short stature 30 Very rare (1%) HP:0004322
11 strabismus 30 Very rare (1%) HP:0000486
12 cryptorchidism 30 Very rare (1%) HP:0000028
13 low-set ears 30 Very rare (1%) HP:0000369
14 webbed neck 30 Very rare (1%) HP:0000465
15 shield chest 30 Very rare (1%) HP:0000914
16 epicanthus 30 Very rare (1%) HP:0000286
17 cystic hygroma 30 Very rare (1%) HP:0000476
18 pectus excavatum 30 Very rare (1%) HP:0000767
19 hypertrophic cardiomyopathy 30 Very rare (1%) HP:0001639
20 mitral valve prolapse 30 Very rare (1%) HP:0001634
21 dolichocephaly 30 Very rare (1%) HP:0000268
22 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
23 polyhydramnios 30 Very rare (1%) HP:0001561
24 ventricular septal defect 30 Very rare (1%) HP:0001629
25 pulmonic stenosis 30 Very rare (1%) HP:0001642
26 bruising susceptibility 30 Very rare (1%) HP:0000978
27 thickened helices 30 Very rare (1%) HP:0000391
28 posteriorly rotated ears 30 Very rare (1%) HP:0000358
29 tricuspid valve prolapse 30 Very rare (1%) HP:0001704
30 patent foramen ovale 30 Very rare (1%) HP:0001655
31 chiari type i malformation 30 Very rare (1%) HP:0007099
32 sagittal craniosynostosis 30 Very rare (1%) HP:0004442
33 juvenile myelomonocytic leukemia 30 Very rare (1%) HP:0012209
34 left unilambdoid synostosis 30 Very rare (1%) HP:0011321
35 delayed skeletal maturation 30 HP:0002750
36 patent ductus arteriosus 30 HP:0001643
37 hypoplastic nasal bridge 30 HP:0005281
38 scaphocephaly 30 HP:0030799

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
dolichocephaly
scaphocephaly

Head And Neck Mouth:
high palate

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
mitral valve prolapse
patent ductus arteriosus
ventricular septal defect
more
Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal:
delayed bone age

Head And Neck Neck:
webbed neck (in some patients)
cystic hygroma (in some patients)

Chest External Features:
broad thorax
thorax deformities

Head And Neck Face:
frontal bossing

Head And Neck Nose:
short nose
anteverted nares
hypoplastic nasal bridge

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Skeletal Skull:
craniosynostosis (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Neurologic Central Nervous System:
developmental delay, mild to severe (in some patients)

Clinical features from OMIM®:

609942 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Noonan Syndrome 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 DNM2 HRAS KRAS PTPN11 PTPN14 RAF1
2 cardiovascular system MP:0005385 9.7 DNM2 DRD3 FRMD6 HRAS HUS1 KRAS
3 vision/eye MP:0005391 9.28 ASPN DNM2 FRMD6 KRAS PRC1 PTPN11

Drugs & Therapeutics for Noonan Syndrome 3

Search Clinical Trials, NIH Clinical Center for Noonan Syndrome 3

Cochrane evidence based reviews: noonan syndrome 3

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

# Genetic test Affiliating Genes
1 Noonan Syndrome 3 28 KRAS

Anatomical Context for Noonan Syndrome 3

Organs/tissues related to Noonan Syndrome 3:

MalaCards : Heart, Skin, Skeletal Muscle, Bone, Bone Marrow, Myeloid
ODiseA: Blood And Bone Marrow, Skeletal Muscle, Heart-Atrium, Heart-Ventricle, Heart, Skin

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 57 5
19396835 2009
2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 57 5
16474404 2006
3
Germline KRAS mutations cause Noonan syndrome. 57 5
16474405 2006
4
Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease. 5
30415384 2020
5
Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS. 5
31160609 2019
6
Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 5
27683039 2016
7
Genomic Classification and Prognosis in Acute Myeloid Leukemia. 5
27276561 2016
8
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 5
27069254 2016
9
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 5
26607044 2016
10
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 5
25914815 2015
11
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 5
25708222 2015
12
Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. 5
25395418 2015
13
Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition. 5
25253770 2014
14
K-RasV14I recapitulates Noonan syndrome in mice. 5
25359213 2014
15
Juvenile myelomonocytic leukaemia and Noonan syndrome. 5
25097206 2014
16
Pectus excavatum and carinatum. 5
24821303 2014
17
The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q). 5
24931631 2014
18
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 5
24803665 2014
19
Behavioral profile in RASopathies. 5
24458522 2014
20
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 5
24150203 2014
21
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 5
24451042 2014
22
Clinical and biological implications of driver mutations in myelodysplastic syndromes. 5
24030381 2013
23
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 5
23321623 2013
24
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 5
23756559 2013
25
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 5
23885229 2013
26
NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 5
23487764 2013
27
Atrioventricular canal defect in patients with RASopathies. 5
22781091 2013
28
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. 5
22821648 2012
29
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? 5
22211815 2012
30
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 5
22488759 2012
31
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 5
22465605 2012
32
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. 5
22250184 2012
33
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 5
22058153 2012
34
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 5
21784453 2011
35
Prenatal features of Noonan syndrome: prevalence and prognostic value. 5
21744363 2011
36
Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 5
21680795 2011
37
RASopathies: Clinical Diagnosis in the First Year of Life. 5
22190897 2011
38
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 5
21387466 2011
39
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 5
22681964 2011
40
Ras in cancer and developmental diseases. 5
21779504 2011
41
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 5
20949621 2011
42
KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues. 5
21686179 2011
43
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 5
21677813 2011
44
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 5
20954246 2010
45
[Mutation analysis of PTPN11 gene in Noonan syndrome]. 5
20931536 2010
46
Synthesis of the Rheb and K-Ras4B GTPases. 5
20652921 2010
47
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 5
20578946 2010
48
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 5
20308328 2010
49
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 5
20186801 2010
50
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 5
20112233 2010

Variations for Noonan Syndrome 3

ClinVar genetic disease variations for Noonan Syndrome 3:

5 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_033360.4(KRAS):c.*9T>G SNV Pathogenic
12591 rs104894367 GRCh37: 12:25362841-25362841
GRCh38: 12:25209907-25209907
2 KRAS NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) SNV Pathogenic
431103 rs1135401776 GRCh37: 12:25378558-25378558
GRCh38: 12:25225624-25225624
3 CLTC NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) INDEL Pathogenic
984634 rs2032738350 GRCh37: 17:57743970-57743974
GRCh38: 17:59666609-59666613
4 KRAS NM_004985.5(KRAS):c.53C>T (p.Ala18Val) SNV Pathogenic
1695421 GRCh37: 12:25398266-25398266
GRCh38: 12:25245332-25245332
5 KRAS NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr) INSERT Pathogenic
1695422 GRCh37: 12:25380263-25380264
GRCh38: 12:25227329-25227330
6 KRAS NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) SNV Pathogenic
12588 rs104894364 GRCh37: 12:25380285-25380285
GRCh38: 12:25227351-25227351
7 KRAS NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) SNV Pathogenic
12597 rs104894359 GRCh37: 12:25380280-25380280
GRCh38: 12:25227346-25227346
8 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic
12590 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
9 KRAS NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) SNV Pathogenic
163758 rs397517042 GRCh37: 12:25362830-25362830
GRCh38: 12:25209896-25209896
10 PTPN11 NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) SNV Pathogenic
44615 rs397516810 GRCh37: 12:112915456-112915456
GRCh38: 12:112477652-112477652
11 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) SNV Pathogenic
40488 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
12 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic
Pathogenic
12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
13 KRAS NM_004985.5(KRAS):c.40G>A (p.Val14Ile) SNV Pathogenic
12589 rs104894365 GRCh37: 12:25398279-25398279
GRCh38: 12:25245345-25245345
14 KRAS NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) SNV Pathogenic
12596 rs193929331 GRCh37: 12:25398306-25398306
GRCh38: 12:25245372-25245372
15 KRAS NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) SNV Pathogenic
Pathogenic
40452 rs727503110 GRCh37: 12:25398254-25398254
GRCh38: 12:25245320-25245320
16 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic
40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
17 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic
40528 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
18 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic
13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
19 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic
40495 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
20 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic
13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
21 SOS1 NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) SNV Pathogenic
40683 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
22 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic
13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
23 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic
13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
24 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic
40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
25 PTPN11 NM_002834.5(PTPN11):c.181G>C (p.Asp61His) SNV Pathogenic
40494 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
26 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic
13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416
27 PTPN11 NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) SNV Likely Pathogenic
40499 rs397507512 GRCh37: 12:112888195-112888195
GRCh38: 12:112450391-112450391
28 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) SNV Likely Pathogenic
40507 rs397507518 GRCh37: 12:112888312-112888312
GRCh38: 12:112450508-112450508
29 HRAS, LRRC56 NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) SNV Likely Pathogenic
12601 rs28933406 GRCh37: 11:533875-533875
GRCh38: 11:533875-533875
30 HRAS, LRRC56 NM_005343.4(HRAS):c.183G>T (p.Gln61His) SNV Likely Pathogenic
376318 rs121913496 GRCh37: 11:533873-533873
GRCh38: 11:533873-533873
31 KRAS NM_004985.5(KRAS):c.451-5642A>T SNV Likely Pathogenic
637030 rs1592798693 GRCh37: 12:25368487-25368487
GRCh38: 12:25215553-25215553
32 KRAS NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) SNV Likely Pathogenic
1676497 GRCh37:
GRCh38:
33 KRAS NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) SNV Likely Pathogenic
438796 rs1555194026 GRCh37: 12:25380264-25380264
GRCh38: 12:25227330-25227330
34 SOS1 NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) SNV Likely Pathogenic
40701 rs574088829 GRCh37: 2:39239460-39239460
GRCh38: 2:39012319-39012319
35 PTPN11 NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) SNV Likely Pathogenic
40500 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
36 KRAS NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) SNV Likely Pathogenic
Not Provided
40460 rs730880471 GRCh37: 12:25378643-25378643
GRCh38: 12:25225709-25225709
37 KRAS NM_004985.5(KRAS):c.202_204del (p.Arg68del) DEL Likely Pathogenic
984644 rs1951405809 GRCh37: 12:25380254-25380256
GRCh38: 12:25227320-25227322
38 RAF1 NM_002880.4(RAF1):c.788T>A (p.Val263Asp) SNV Likely Pathogenic
496189 rs397516830 GRCh37: 3:12645681-12645681
GRCh38: 3:12604182-12604182
39 PTPN11 NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) SNV Likely Pathogenic
164997 rs727503380 GRCh37: 12:112888190-112888190
GRCh38: 12:112450386-112450386
40 SHOC2 NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) SNV Uncertain Significance
1030212 rs1848438761 GRCh37: 10:112764550-112764550
GRCh38: 10:111004792-111004792
41 KRAS NM_004985.5(KRAS):c.76A>C (p.Asn26His) SNV Uncertain Significance
1333392 GRCh37: 12:25398243-25398243
GRCh38: 12:25245309-25245309
42 KRAS NM_033360.4(KRAS):c.112-5C>T SNV Uncertain Significance
626130 rs376520586 GRCh37: 12:25380351-25380351
GRCh38: 12:25227417-25227417
43 KRAS NM_004985.5(KRAS):c.111+8T>G SNV Uncertain Significance
883635 rs779370636 GRCh37: 12:25398200-25398200
GRCh38: 12:25245266-25245266
44 SHOC2 NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) SNV Uncertain Significance
1030213 rs1026930115 GRCh37: 10:112769525-112769525
GRCh38: 10:111009767-111009767
45 KRAS NM_033360.4(KRAS):c.*44C>T SNV Likely Benign
547512 rs1555192443 GRCh37: 12:25362806-25362806
GRCh38: 12:25209872-25209872
46 KRAS NM_004985.5(KRAS):c.451-9G>A SNV Benign
40464 rs12313763 GRCh37: 12:25362854-25362854
GRCh38: 12:25209920-25209920

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 KRAS p.Val14Ile VAR_026109 rs104894365
2 KRAS p.Thr58Ile VAR_026111 rs104894364
3 KRAS p.Gln22Arg VAR_064851 rs727503110
4 KRAS p.Pro34Leu VAR_064852 rs104894366
5 KRAS p.Pro34Gln VAR_064853
6 KRAS p.Ile36Met VAR_064854 rs727503109
7 KRAS p.Lys5Glu VAR_065144 rs193929331
8 KRAS p.Gly60Ser VAR_065146 rs104894359

Expression for Noonan Syndrome 3

Search GEO for disease gene expression data for Noonan Syndrome 3.

Pathways for Noonan Syndrome 3

Pathways related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 ATP6V1G2 CLTC DNM2 HRAS KRAS MCEMP1
2 13.77 ATP6V1G2 CLTC DNM2 DRD3 HRAS KRAS
3
Show member pathways
12.92 SOS1 RAF1 KRAS HRAS DRD3
4
Show member pathways
12.89 HRAS KRAS PTPN11 RAF1 SOS1
5
Show member pathways
12.74 SOS1 PTPN11 KRAS HRAS ATP6V1G2
6 12.74 ATP6V1G2 CLTC DNM2 HRAS KRAS PTPN11
7
Show member pathways
12.7 HRAS KRAS PTPN11 RAF1 SOS1
8
Show member pathways
12.7 SOS1 RAF1 KRAS HRAS DNM2
9
Show member pathways
12.69 SOS1 RAF1 KRAS HRAS DNM2
10
Show member pathways
12.63 HRAS KRAS PTPN11 RAF1 SOS1
11
Show member pathways
12.61 SOS1 PTPN11 KRAS HRAS
12
Show member pathways
12.6 SOS1 PTPN11 KRAS HRAS
13 12.56 CLTC DNM2 FRMD6 PRC1
14
Show member pathways
12.54 SOS1 RAF1 PTPN11 HRAS
15
Show member pathways
12.53 SOS1 RAF1 KRAS HRAS
16
Show member pathways
12.49 SOS1 RAF1 PTPN11 HRAS
17
Show member pathways
12.48 SOS1 PTPN11 KRAS HRAS DNM2 CLTC
18
Show member pathways
12.46 SOS1 RAF1 KRAS HRAS
19
Show member pathways
12.45 SOS1 PTPN11 KRAS HRAS
20
Show member pathways
12.45 SOS1 RAF1 PTPN11 KRAS HRAS
21 12.44 HRAS KRAS RAF1 SOS1
22
Show member pathways
12.4 SOS1 RAF1 PTPN11 KRAS HRAS
23
Show member pathways
12.37 HRAS PTPN11 RAF1 SOS1
24
Show member pathways
12.37 SOS1 RAF1 PTPN11 KRAS HRAS
25
Show member pathways
12.35 SOS1 RAF1 PTPN11 HRAS
26
Show member pathways
12.35 RAF1 PTPN11 KRAS HRAS
27
Show member pathways
12.35 SOS1 RAF1 PTPN11 KRAS HRAS
28
Show member pathways
12.3 SOS1 RAF1 PTPN11 DNM2
29
Show member pathways
12.3 SOS1 PTPN11 KRAS HRAS
30
Show member pathways
12.29 SOS1 RAF1 KRAS HRAS
31
Show member pathways
12.25 SOS1 PTPN11 KRAS HRAS
32
Show member pathways
12.24 SOS1 RAF1 KRAS HRAS
33
Show member pathways
12.23 SOS1 RAF1 KRAS HRAS
34
Show member pathways
12.22 HRAS PTPN11 RAF1 SOS1
35 12.2 SOS1 RAF1 KRAS HRAS
36
Show member pathways
12.2 SOS1 RAF1 KRAS HRAS
37
Show member pathways
12.19 SOS1 RAF1 PTPN11 HRAS
38 12.17 SOS1 RAF1 PTPN11 KRAS HRAS
39
Show member pathways
12.13 SOS1 PTPN11 KRAS HRAS
40
Show member pathways
12.01 SOS1 RAF1 PTPN11 HRAS
41
Show member pathways
12 SOS1 KRAS HRAS
42
Show member pathways
11.98 HRAS KRAS RAF1 SOS1
43
Show member pathways
11.96 SOS1 KRAS HRAS
44
Show member pathways
11.96 SOS1 KRAS HRAS
45 11.95 SOS1 KRAS HRAS
46 11.92 SOS1 RAF1 KRAS
47
Show member pathways
11.9 HRAS KRAS PTPN11 SOS1
48
Show member pathways
11.89 SOS1 KRAS HRAS
49
Show member pathways
11.88 SOS1 PTPN11 KRAS HRAS
50 11.85 SOS1 RAF1 HRAS

GO Terms for Noonan Syndrome 3

Cellular components related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase complex GO:1905360 8.92 SOS1 HRAS

Biological processes related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of protein export from nucleus GO:0046825 9.26 PTPN14 PTPN11
2 neurotrophin TRK receptor signaling pathway GO:0048011 9.1 SOS1 RAF1 PTPN11

Molecular functions related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activator activity GO:0043539 8.92 SOS1 RAF1 KRAS HRAS

Sources for Noonan Syndrome 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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