NS3
MCID: NNN010
MIFTS: 51

Noonan Syndrome 3 (NS3)

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

Aliases & Classifications for Noonan Syndrome 3

Summaries for Noonan Syndrome 3

UniProtKB/Swiss-Prot : 72 Noonan syndrome 3: 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 Regulation of lipid metabolism Insulin signaling-generic cascades and Endometrial cancer. Affiliated tissues include myeloid, bone and heart, and related phenotypes are cryptorchidism and cystic hygroma

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the KRAS gene.

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 05-Apr-2021)

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

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

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 hepatitis c virus 11.2
2 hepatitis c 11.1
3 dengue virus 10.9
4 hepatitis 10.8
5 west nile virus 10.8
6 encephalitis 10.7
7 japanese encephalitis 10.6
8 vaccinia 10.6
9 yellow fever 10.6
10 dengue disease 10.5
11 liver cirrhosis 10.5
12 lentigines 10.5 RAF1 PTPN11
13 hepatic flexure cancer 10.5 KRAS HRAS
14 trachea carcinoma in situ 10.5 KRAS HRAS
15 signet ring basal cell carcinoma 10.5 KRAS HRAS
16 cobblestone retinal degeneration 10.5 KRAS HRAS
17 immature teratoma of ovary 10.5 KRAS HRAS
18 pancreatic signet ring cell adenocarcinoma 10.5 KRAS HRAS
19 descending colon cancer 10.5 KRAS HRAS
20 ampulla of vater benign neoplasm 10.5 KRAS HRAS
21 keratosis pilaris atrophicans faciei 10.5 SOS1 PTPN11
22 transverse colon cancer 10.5 KRAS HRAS
23 periampullary adenoma 10.5 KRAS HRAS
24 bone giant cell sarcoma 10.4 KRAS HRAS
25 acneiform dermatitis 10.4 KRAS HRAS
26 appendiceal neoplasm 10.4 KRAS HRAS
27 gallbladder benign neoplasm 10.4 KRAS HRAS
28 spitz nevus 10.4 LRRC56 HRAS
29 adenosquamous lung carcinoma 10.4 KRAS HRAS
30 appendix adenocarcinoma 10.4 KRAS HRAS
31 mucinous lung adenocarcinoma 10.4 KRAS HRAS
32 wolffian duct adenocarcinoma 10.4 KRAS HRAS
33 microcephaly 10.4
34 diarrhea 10.4
35 testicular spermatocytic seminoma 10.4 PTPN11 HRAS
36 myh-associated polyposis 10.4 KRAS HRAS
37 villonodular synovitis 10.4 SOS1 PTPN11
38 leopard syndrome 2 10.4 RAF1 PTPN11
39 ascending colon cancer 10.4 KRAS HRAS
40 biliary tract benign neoplasm 10.4 KRAS HRAS
41 ovarian mucinous neoplasm 10.4 KRAS HRAS
42 malignant exocrine pancreas neoplasm 10.4 KRAS HRAS
43 skin granular cell tumor 10.4 SOS1 SHOC2 PTPN11
44 large intestine adenocarcinoma 10.4 LRRC56 KRAS HRAS
45 noonan syndrome-like disorder with loose anagen hair 2 10.4 SOS1 SHOC2 PTPN11
46 noonan syndrome and noonan-related syndrome 10.4 SOS1 RAF1 PTPN11
47 pancreatic acinar cell adenocarcinoma 10.4 KRAS HRAS
48 paronychia 10.4 KRAS HRAS
49 schimmelpenning-feuerstein-mims syndrome 10.4 LRRC56 KRAS HRAS
50 respiratory system benign neoplasm 10.4 RAF1 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:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 very rare (1%) HP:0000028
2 cystic hygroma 31 very rare (1%) HP:0000476
3 macrocephaly 31 HP:0000256
4 frontal bossing 31 HP:0002007
5 high palate 31 HP:0000218
6 global developmental delay 31 HP:0001263
7 delayed skeletal maturation 31 HP:0002750
8 hypertelorism 31 HP:0000316
9 short nose 31 HP:0003196
10 anteverted nares 31 HP:0000463
11 short stature 31 HP:0004322
12 low-set ears 31 HP:0000369
13 webbed neck 31 HP:0000465
14 epicanthus 31 HP:0000286
15 pectus excavatum 31 HP:0000767
16 atrial septal defect 31 HP:0001631
17 hypertrophic cardiomyopathy 31 HP:0001639
18 mitral valve prolapse 31 HP:0001634
19 downslanted palpebral fissures 31 HP:0000494
20 polyhydramnios 31 HP:0001561
21 patent ductus arteriosus 31 HP:0001643
22 ventricular septal defect 31 HP:0001629
23 pulmonic stenosis 31 HP:0001642
24 posteriorly rotated ears 31 HP:0000358
25 hypoplastic nasal bridge 31 HP:0005281
26 sagittal craniosynostosis 31 HP:0004442
27 scaphocephaly 31 HP:0030799
28 atrial septal dilatation 31 HP:0011995
29 juvenile myelomonocytic leukemia 31 HP:0012209

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

GenomeRNAi Phenotypes related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CLTC EEF1B2 HRAS KRAS PTPN11 SHOC2

Drugs & Therapeutics for Noonan Syndrome 3

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 3

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

# Genetic test Affiliating Genes
1 Noonan Syndrome 3 29 KRAS

Anatomical Context for Noonan Syndrome 3

MalaCards organs/tissues related to Noonan Syndrome 3:

40
Myeloid, Bone, Heart

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 6 57
19396835 2009
2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 6 57
16474404 2006
3
Germline KRAS mutations cause Noonan syndrome. 57 6
16474405 2006
4
Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 6
27683039 2016
5
Genomic Classification and Prognosis in Acute Myeloid Leukemia. 6
27276561 2016
6
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 6
27069254 2016
7
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 6
26607044 2016
8
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 6
25914815 2015
9
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 6
25708222 2015
10
Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. 6
25395418 2015
11
Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition. 6
25253770 2014
12
K-RasV14I recapitulates Noonan syndrome in mice. 6
25359213 2014
13
Juvenile myelomonocytic leukaemia and Noonan syndrome. 6
25097206 2014
14
Pectus excavatum and carinatum. 6
24821303 2014
15
The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q). 6
24931631 2014
16
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 6
24803665 2014
17
Behavioral profile in RASopathies. 6
24458522 2014
18
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 6
24150203 2014
19
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 6
24451042 2014
20
Clinical and biological implications of driver mutations in myelodysplastic syndromes. 6
24030381 2013
21
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 6
23321623 2013
22
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 6
23756559 2013
23
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 6
23885229 2013
24
NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 6
23487764 2013
25
Atrioventricular canal defect in patients with RASopathies. 6
22781091 2013
26
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. 6
22821648 2012
27
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? 6
22211815 2012
28
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 6
22465605 2012
29
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 6
22488759 2012
30
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 6
22058153 2012
31
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 6
21784453 2011
32
Prenatal features of Noonan syndrome: prevalence and prognostic value. 6
21744363 2011
33
Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 6
21680795 2011
34
RASopathies: Clinical Diagnosis in the First Year of Life. 6
22190897 2011
35
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 6
21387466 2011
36
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 6
22681964 2011
37
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 6
20949621 2011
38
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 6
21677813 2011
39
KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues. 6
21686179 2011
40
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 6
20954246 2010
41
[Mutation analysis of PTPN11 gene in Noonan syndrome]. 6
20931536 2010
42
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 6
20578946 2010
43
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 6
20308328 2010
44
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 6
20112233 2010
45
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 6
20186801 2010
46
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. 6
19737548 2009
47
Genotype differences in cognitive functioning in Noonan syndrome. 6
19077116 2009
48
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 6
18854871 2009
49
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 6
19120036 2009
50
Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis. 6
19179468 2009

Variations for Noonan Syndrome 3

ClinVar genetic disease variations for Noonan Syndrome 3:

6 (show all 45)
# 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 GRCh37: 17:57743970-57743974
GRCh38: 17:59666609-59666613
4 KRAS NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) SNV Pathogenic 12588 rs104894364 GRCh37: 12:25380285-25380285
GRCh38: 12:25227351-25227351
5 KRAS NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) SNV Pathogenic 12596 rs193929331 GRCh37: 12:25398306-25398306
GRCh38: 12:25245372-25245372
6 KRAS NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) SNV Pathogenic 12597 rs104894359 GRCh37: 12:25380280-25380280
GRCh38: 12:25227346-25227346
7 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic 12590 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
8 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
9 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic 40495 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
10 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) SNV Pathogenic 40488 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
11 PTPN11 NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) SNV Pathogenic 44615 rs397516810 GRCh37: 12:112915456-112915456
GRCh38: 12:112477652-112477652
12 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
13 PTPN11 NM_002834.4(PTPN11):c.181G>C (p.Asp61His) SNV Pathogenic 40494 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
14 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic 12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
15 KRAS NM_004985.5(KRAS):c.40G>A (p.Val14Ile) SNV Pathogenic 12589 rs104894365 GRCh37: 12:25398279-25398279
GRCh38: 12:25245345-25245345
16 KRAS NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) SNV Pathogenic 40452 rs727503110 GRCh37: 12:25398254-25398254
GRCh38: 12:25245320-25245320
17 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
18 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic 40528 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
19 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic 13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
20 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) SNV Pathogenic 40683 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
21 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic 13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
22 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic 13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
23 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic 13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416
24 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic 12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
25 KRAS NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) SNV Pathogenic 40452 rs727503110 GRCh37: 12:25398254-25398254
GRCh38: 12:25245320-25245320
26 KRAS NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) SNV Likely pathogenic 438796 rs1555194026 GRCh37: 12:25380264-25380264
GRCh38: 12:25227330-25227330
27 PTPN11 NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) SNV Likely pathogenic 164997 rs727503380 GRCh37: 12:112888190-112888190
GRCh38: 12:112450386-112450386
28 PTPN11 NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) SNV Likely pathogenic 40500 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
29 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) SNV Likely pathogenic 40507 rs397507518 GRCh37: 12:112888312-112888312
GRCh38: 12:112450508-112450508
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 PTPN11 NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) SNV Likely pathogenic 40499 rs397507512 GRCh37: 12:112888195-112888195
GRCh38: 12:112450391-112450391
32 RAF1 NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) SNV Likely pathogenic 496189 rs397516830 GRCh37: 3:12645681-12645681
GRCh38: 3:12604182-12604182
33 HRAS , LRRC56 NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) SNV Likely pathogenic 12601 rs28933406 GRCh37: 11:533875-533875
GRCh38: 11:533875-533875
34 SOS1 NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) SNV Likely pathogenic 40701 rs574088829 GRCh37: 2:39239460-39239460
GRCh38: 2:39012319-39012319
35 KRAS NM_004985.5(KRAS):c.202_204del (p.Arg68del) Deletion Likely pathogenic 984644 GRCh37: 12:25380254-25380256
GRCh38: 12:25227320-25227322
36 KRAS NM_004985.5(KRAS):c.451-5642A>T SNV Likely pathogenic 637030 rs1592798693 GRCh37: 12:25368487-25368487
GRCh38: 12:25215553-25215553
37 KRAS NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) SNV Likely pathogenic 40460 rs730880471 GRCh37: 12:25378643-25378643
GRCh38: 12:25225709-25225709
38 KRAS NM_004985.5(KRAS):c.111+8T>G SNV Uncertain significance 883635 GRCh37: 12:25398200-25398200
GRCh38: 12:25245266-25245266
39 KRAS NM_033360.4(KRAS):c.112-5C>T SNV Uncertain significance 626130 rs376520586 GRCh37: 12:25380351-25380351
GRCh38: 12:25227417-25227417
40 SHOC2 NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) SNV Uncertain significance 1030212 GRCh37: 10:112764550-112764550
GRCh38: 10:111004792-111004792
41 SHOC2 NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) SNV Uncertain significance 1030213 GRCh37: 10:112769525-112769525
GRCh38: 10:111009767-111009767
42 KRAS NM_033360.4(KRAS):c.*44C>T SNV Likely benign 547512 rs1555192443 GRCh37: 12:25362806-25362806
GRCh38: 12:25209872-25209872
43 KRAS NM_004985.5(KRAS):c.451-9G>A SNV Benign 40464 rs12313763 GRCh37: 12:25362854-25362854
GRCh38: 12:25209920-25209920
44 KRAS NM_004985.5(KRAS):c.451-5617= SNV Benign 46538 rs4362222 GRCh37: 12:25368462-25368462
GRCh38: 12:25215528-25215528
45 KRAS NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) SNV not provided 40460 rs730880471 GRCh37: 12:25378643-25378643
GRCh38: 12:25225709-25225709

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

72
# 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 83)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 SOS1 RAF1 PTPN11 KRAS HRAS
2
Show member pathways
12.89 SOS1 RAF1 PTPN11 KRAS HRAS
3
Show member pathways
12.8 SOS1 RAF1 PTPN11 KRAS HRAS
4
Show member pathways
12.74 SOS1 RAF1 PTPN11 KRAS HRAS
5
Show member pathways
12.71 SOS1 SHOC2 RAF1 PTPN11 KRAS HRAS
6
Show member pathways
12.64 SOS1 RAF1 PTPN11 KRAS HRAS
7
Show member pathways
12.62 SOS1 RAF1 PTPN11 KRAS HRAS
8
Show member pathways
12.6 SOS1 RAF1 PTPN11 KRAS HRAS
9 12.55 SOS1 RAF1 KRAS HRAS
10
Show member pathways
12.54 SOS1 RAF1 PTPN11 HRAS
11
Show member pathways
12.52 SOS1 RAF1 KRAS HRAS
12
Show member pathways
12.52 SOS1 RAF1 KRAS HRAS
13
Show member pathways
12.52 SOS1 RAF1 PTPN11 KRAS HRAS
14
Show member pathways
12.51 SOS1 PTPN11 KRAS HRAS
15
Show member pathways
12.49 SOS1 RAF1 PTPN11 KRAS HRAS
16
Show member pathways
12.43 SOS1 RAF1 KRAS HRAS
17
Show member pathways
12.43 SOS1 RAF1 PTPN11 HRAS
18
Show member pathways
12.42 SOS1 RAF1 PTPN11 HRAS
19
Show member pathways
12.4 SOS1 RAF1 PTPN11 KRAS HRAS
20
Show member pathways
12.39 SOS1 RAF1 PTPN11 KRAS HRAS
21
Show member pathways
12.38 SOS1 RAF1 PTPN11 KRAS HRAS
22
Show member pathways
12.36 SOS1 RAF1 KRAS HRAS
23
Show member pathways
12.36 SOS1 RAF1 KRAS HRAS
24
Show member pathways
12.33 SOS1 RAF1 PTPN11 HRAS
25
Show member pathways
12.33 SOS1 RAF1 PTPN11 KRAS HRAS
26
Show member pathways
12.31 SOS1 RAF1 PTPN11 KRAS HRAS CLTC
27
Show member pathways
12.3 SOS1 PTPN11 KRAS HRAS
28
Show member pathways
12.3 XRN2 LSM5 EDC4 DCP1A
29 12.27 RAF1 PTPN11 KRAS HRAS
30
Show member pathways
12.25 SOS1 PTPN11 KRAS HRAS
31 12.25 SOS1 RAF1 PTPN11 KRAS HRAS
32
Show member pathways
12.24 RAF1 PTPN11 KRAS HRAS
33
Show member pathways
12.23 SOS1 RAF1 KRAS HRAS
34
Show member pathways
12.23 SOS1 RAF1 PTPN11 KRAS HRAS
35
Show member pathways
12.2 SOS1 RAF1 PTPN11 HRAS
36
Show member pathways
12.16 SOS1 RAF1 KRAS HRAS
37 12.11 SOS1 RAF1 PTPN11 KRAS HRAS
38
Show member pathways
12.09 SOS1 RAF1 KRAS HRAS
39
Show member pathways
12.05 SOS1 RAF1 PTPN11 KRAS HRAS
40 11.98 XRN2 LSG1 GNL3
41
Show member pathways
11.98 SOS1 RAF1 PTPN11 KRAS HRAS
42
Show member pathways
11.97 RAF1 KRAS HRAS
43 11.97 SOS1 RAF1 KRAS HRAS
44
Show member pathways
11.96 SOS1 KRAS HRAS
45 11.9 SOS1 RAF1 KRAS
46
Show member pathways
11.88 SOS1 PTPN11 HRAS
47
Show member pathways
11.88 SOS1 KRAS HRAS
48
Show member pathways
11.88 SOS1 RAF1 PTPN11 HRAS
49
Show member pathways
11.87 SOS1 KRAS HRAS
50
Show member pathways
11.83 RAF1 KRAS 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 cytosol GO:0005829 9.77 SOS1 SHOC2 RAF1 PTPN11 LSM5 LSG1
2 cytoplasm GO:0005737 9.5 TNPO3 SOS1 SHOC2 SH2D3C RAF1 PTPN11

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.67 SOS1 RAF1 KRAS HRAS
2 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.33 LSM5 EDC4 DCP1A
3 response to isolation stress GO:0035900 9.32 KRAS HRAS
4 deadenylation-independent decapping of nuclear-transcribed mRNA GO:0031087 9.26 EDC4 DCP1A
5 neurotrophin TRK receptor signaling pathway GO:0048011 9.13 SOS1 RAF1 PTPN11
6 Ras protein signal transduction GO:0007265 9.02 SOS1 SHOC2 KRAS HRAS G3BP2

Sources for Noonan Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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