Noonan Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

Sources

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:

Sources

Symptoms & Phenotypes for Noonan Syndrome 3

Human phenotypes related to Noonan Syndrome 3:

³⁰ (show all 38)

#	Description	HPO 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

Sources

Drugs & Therapeutics for Noonan Syndrome 3

Search Clinical Trials, NIH Clinical Center for Noonan Syndrome 3

Cochrane evidence based reviews: noonan syndrome 3

Sources

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

#	Genetic test	Affiliating Genes
1	Noonan Syndrome 3 ²⁸	KRAS

Sources

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

Sources

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	Kratz CP...Zenker M	19396835	2009
2	Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. ⁵⁷ ⁵	Niihori T...Matsubara Y	16474404	2006
3	Germline KRAS mutations cause Noonan syndrome. ⁵⁷ ⁵	Schubbert S...Kratz CP	16474405	2006
4	Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease. ⁵	Lorenzoni PJ...Scola RH	30415384	2020
5	Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS. ⁵	Eijkelenboom A...Rehmann H	31160609	2019
6	Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. ⁵	de Smith AJ...Wiemels JL	27683039	2016
7	Genomic Classification and Prognosis in Acute Myeloid Leukemia. ⁵	Papaemmanuil E...Campbell PJ	27276561	2016
8	The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. ⁵	Arber DA...Vardiman JW	27069254	2016
9	New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. ⁵	Cizmarova M...Ilencikova D	26607044	2016
10	Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. ⁵	Coromilas A...Chung WK	25914815	2015
11	Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. ⁵	Hahn A...Schranz D	25708222	2015
12	Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. ⁵	Stieglitz E...Loh ML	25395418	2015
13	Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition. ⁵	Irving J...Eckert C	25253770	2014
14	K-RasV14I recapitulates Noonan syndrome in mice. ⁵	Hernandez-Porras I...Barbacid M	25359213	2014
15	Juvenile myelomonocytic leukaemia and Noonan syndrome. ⁵	Strullu M...Cave H	25097206	2014
16	Pectus excavatum and carinatum. ⁵	Cobben JM...van Dijk FS	24821303	2014
17	The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q). ⁵	McNerney ME...White KP	24931631	2014
18	Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. ⁵	Kiel C...Serrano L	24803665	2014
19	Behavioral profile in RASopathies. ⁵	Alfieri P...Vicari S	24458522	2014
20	Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. ⁵	Rodriguez FA...Cassorla F	24150203	2014
21	Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. ⁵	Lepri FR...Dallapiccola B	24451042	2014
22	Clinical and biological implications of driver mutations in myelodysplastic syndromes. ⁵	Papaemmanuil E...Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium	24030381	2013
23	Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. ⁵	Croonen EA...Yntema HG	23321623	2013
24	Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. ⁵	Timeus F...Ferrero GB	23756559	2013
25	Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. ⁵	Croonen EA...Yntema HG	23885229	2013
26	NMR-based functional profiling of RASopathies and oncogenic RAS mutations. ⁵	Smith MJ...Ikura M	23487764	2013
27	Atrioventricular canal defect in patients with RASopathies. ⁵	Digilio MC...Dallapiccola B	22781091	2013
28	Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. ⁵	Schulz S...Schneider U	22821648	2012
29	Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? ⁵	Bertola DR...Messiaen LM	22211815	2012
30	Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. ⁵	Quaio CR...Bertola DR	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	Ezquieta B...Galbis L	22465605	2012
32	Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. ⁵	Lucia A...Andreu AL	22250184	2012
33	The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. ⁵	Schramm C...Krenz M	22058153	2012
34	Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. ⁵	Lee BH...Yoo HW	21784453	2011
35	Prenatal features of Noonan syndrome: prevalence and prognostic value. ⁵	Baldassarre G...Ferrero GB	21744363	2011
36	Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. ⁵	Zhang J...Hunger SP	21680795	2011
37	RASopathies: Clinical Diagnosis in the First Year of Life. ⁵	Digilio MC...Dallapiccola B	22190897	2011
38	SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. ⁵	Lepri F...Tartaglia M	21387466	2011
39	PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? ⁵	Lauriol J...Kontaridis MI	22681964	2011
40	Ras in cancer and developmental diseases. ⁵	Fernandez-Medarde A...Santos E	21779504	2011
41	Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. ⁵	Gremer L...Ahmadian MR	20949621	2011
42	KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues. ⁵	Solassol J...Maudelonde T	21686179	2011
43	LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. ⁵	Ganigara M...Kumar RS	21677813	2011
44	Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. ⁵	Derbent M...Ozbek N	20954246	2010
45	[Mutation analysis of PTPN11 gene in Noonan syndrome]. ⁵	Yang T...Huang SZ	20931536	2010
46	Synthesis of the Rheb and K-Ras4B GTPases. ⁵	Chen YX...Waldmann H	20652921	2010
47	PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. ⁵	Brasil AS...Bertola DR	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	Edouard T...Raynal P	20308328	2010
49	Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. ⁵	Pierpont EI...Seidenberg MS	20186801	2010
50	Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. ⁵	Houweling AC...Go AT	20112233	2010

Sources

Genes for Noonan Syndrome 3

Genes related to Noonan Syndrome 3 (4 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1332.52	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	10590419 10681080 16474404 (more) 16474405 16773572 16987887 17056636 17211612 17468812 17704260 17994553 18386799 18958496 19020799 19396835 20652921 20949621 21686179 21779504 21784453 22211815 22250184 23885229 24803665 25359213 30415384 31160609
2	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	11992261 12325025 12634870 (more) 12717436 12960218 14644997 15001945 15248152 15385933 15520399 15689434 15690106 15710330 15723289 15761018 15834506 15842656 15928039 15956085 15985475 15987685 15996221 16358218 16377799 16498234 16638574 16804314 16990350 17020470 17339163 17546245 17661820 17972951 18241070 18505544 18678287 18854871 19020799 19047918 19077116 19120036 19179468 20112233 20186801 20308328 20578946 20931536 20954246 21677813 21744363 21784453 22058153 22190897 22465605 22488759 22781091 23321623 23756559 24458522 24821303 25097206 25253770 25395418 25708222 25914815 26607044 27069254 27276561 15604238 16467864 18470943 18759865 19737548 21680795 22681964 24030381 24150203 24451042 24931631 27683039
3	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	21784453 21387466 17586837 (more) 17143282 23487764 20186801
4	CLTC	Clathrin Heavy Chain	Protein Coding	400	Pathogenic ⁵
5	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	25	Likely pathogenic ⁵	1904555 3510078
6	LRRC56	Leucine Rich Repeat Containing 56	Protein Coding	25	Likely pathogenic ⁵	1904555 3510078
7	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	25	Likely pathogenic ⁵	22821648
8	NT5DC3	5'-Nucleotidase Domain Containing 3	Protein Coding	6.27	DISEASES inferred ¹⁴
9	PRC1	Protein Regulator Of Cytokinesis 1	Protein Coding	5.35	DISEASES inferred ¹⁴
10	PHGR1	Proline, Histidine And Glycine Rich 1	Protein Coding	5.28	DISEASES inferred ¹⁴
11	HUS1	HUS1 Checkpoint Clamp Component	Protein Coding	5.08	DISEASES inferred ¹⁴
12	MRPL58	Mitochondrial Ribosomal Protein L58	Protein Coding	4.89	DISEASES inferred ¹⁴
13	FRMD6	FERM Domain Containing 6	Protein Coding	4.87	DISEASES inferred ¹⁴
14	DNAJC22	DnaJ Heat Shock Protein Family (Hsp40) Member C22	Protein Coding	4.82	DISEASES inferred ¹⁴
15	ASPN	Asporin	Protein Coding	4.74	DISEASES inferred ¹⁴
16	MCEMP1	Mast Cell Expressed Membrane Protein 1	Protein Coding	4.62	DISEASES inferred ¹⁴
17	ATP6V1G2	ATPase H+ Transporting V1 Subunit G2	Protein Coding	4.48	DISEASES inferred ¹⁴
18	DRD3	Dopamine Receptor D3	Protein Coding	4.44	DISEASES inferred ¹⁴
19	DNM2	Dynamin 2	Protein Coding	4.39	DISEASES inferred ¹⁴
20	PTPN14	Protein Tyrosine Phosphatase Non-Receptor Type 14	Protein Coding	4.36	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Noonan Syndrome 3

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

Sources

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	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	14.01	ATP6V1G2 CLTC DNM2 HRAS KRAS MCEMP1
2	Signal Transduction ⁶⁶	13.77	ATP6V1G2 CLTC DNM2 DRD3 HRAS KRAS
3	Beta-Adrenergic Signaling ⁶⁴ Show member pathways CDK5 Pathway ⁶⁴ Erythropoietin Pathway ⁶⁴ Insulin Pathway ⁷⁰ Insulin Receptor Pathway ⁶⁴	12.92	SOS1 RAF1 KRAS HRAS DRD3
4	IL-9 Signaling Pathways ⁶⁵ Show member pathways Adipocytokines and Insulin Signaling ⁶⁵ Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁵ Development Thrombopoietin-regulated cell processes ²² IL-15 Signaling Pathways ⁶⁵ IL-2 Signaling Pathways ⁶⁵ IL-21 Signaling Pathways ⁶⁵ IL-4 Pathway ⁶⁴ IL-4 Signaling Pathways ⁶⁵ IL-7 Signaling Pathways ⁶⁵ IL-9 Pathway ⁶⁴ Immune response IL-9 signaling pathway ²² Interleukin-9 signaling ⁶⁶	12.89	HRAS KRAS PTPN11 RAF1 SOS1
5	Insulin receptor signalling cascade ⁶⁶ Show member pathways Glucose homeostasis ⁷⁴ IGF1R signaling cascade ⁶⁶ IRS activation ⁶⁶ IRS-mediated signalling ⁶⁶ IRS-related events triggered by IGF1R ⁶⁶ PI3K Cascade ⁶⁶ SHC-related events triggered by IGF1R ⁶⁶ Signal attenuation ⁶⁶ Signaling by Insulin receptor ⁶⁶ Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) ⁶⁶ SOS-mediated signalling ⁶⁶	12.74	SOS1 PTPN11 KRAS HRAS ATP6V1G2
6	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.74	ATP6V1G2 CLTC DNM2 HRAS KRAS PTPN11
7	CNTF Signaling ⁶⁴ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ FLT3 Signaling ⁶⁴ G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Host-pathogen interaction of human coronaviruses - MAPK signaling ⁷⁴ IL-3 Pathway ⁶⁴ Immune response Oncostatin M signaling via MAPK in human cells ²² Inhibition of exosome biogenesis and secretion by Manumycin A in CRPC cells ⁷⁴ MAPK cascade ⁷⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12.7	HRAS KRAS PTPN11 RAF1 SOS1
8	G-protein signaling G-Protein alpha-i signaling cascades ²² Show member pathways Development Beta-adrenergic receptors regulation of ERK ²² G-protein signaling G-Protein alpha-s signaling cascades ²² G-protein signaling G-Protein beta/gamma signaling cascades ²² Signaling in Gap Junctions ⁶⁴	12.7	SOS1 RAF1 KRAS HRAS DNM2
9	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.69	SOS1 RAF1 KRAS HRAS DNM2
10	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways IL1 signaling pathway ⁶⁷ Immune response IL-1 signaling pathway ²² Interleukin-1 (IL-1) structural pathway ⁷⁴ Interleukin-33 signaling ⁶⁶ Interleukin-36 pathway ⁶⁶ Mucin expression in CF via TLRs, EGFR signaling pathways ²² Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.63	HRAS KRAS PTPN11 RAF1 SOS1
11	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ⁶¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ⁶¹ Immune response IL-10 signaling pathway ²² RAC1/PAK1/p38/MMP2 pathway ⁷⁴	12.61	SOS1 PTPN11 KRAS HRAS
12	Negative regulation of FGFR1 signaling ⁶⁶ Show member pathways FGFR1 ligand binding and activation ⁶⁶ FGFR1b ligand binding and activation ⁶⁶ FGFR1c and Klotho ligand binding and activation ⁶⁶ FGFR1c ligand binding and activation ⁶⁶ FGFRL1 modulation of FGFR1 signaling ⁶⁶ Negative regulation of FGFR2 signaling ⁶⁶ Negative regulation of FGFR3 signaling ⁶⁶ Negative regulation of FGFR4 signaling ⁶⁶ Signaling by activated point mutants of FGFR1 ⁶⁶ Signaling by FGFR1 ⁶⁶ Signaling by FGFR1 amplification mutants ⁶⁶ Signaling by FGFR3 ⁶⁶ Signaling by FGFR4 ⁶⁶ Spry regulation of FGF signaling ⁶⁶	12.6	SOS1 PTPN11 KRAS HRAS
13	Cytoskeletal Signaling ³	12.56	CLTC DNM2 FRMD6 PRC1
14	Angiopoietin-like protein 8 regulatory pathway ⁷⁴ Show member pathways Insulin signaling ⁷⁴ Liver X receptor pathway ⁷⁴	12.54	SOS1 RAF1 PTPN11 HRAS
15	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.53	SOS1 RAF1 KRAS HRAS
16	Hepatocyte growth factor receptor signaling ⁷⁴ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development HGF signaling pathway ²² Development Neurotrophin family signaling ²² Drug-mediated inhibition of MET activation ⁶⁶ MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ PLC-gamma1 signalling ⁶⁶ Trk receptor signaling mediated by PI3K and PLC-gamma ⁶¹ TRKA activation by NGF ⁶⁶	12.49	SOS1 RAF1 PTPN11 HRAS
17	Signaling by NTRKs ⁶⁶ Show member pathways Activated NTRK3 signals through PI3K ⁶⁶ Activated NTRK3 signals through PLCG1 ⁶⁶ Activated NTRK3 signals through RAS ⁶⁶ Activation of TRKA receptors ⁶⁶ NGF-independant TRKA activation ⁶⁶ NTF3 activates NTRK3 signaling ⁶⁶ NTRK3 as a dependence receptor ⁶⁶ PI3K/AKT activation ⁶⁶ Retrograde neurotrophin signalling ⁶⁶ Signaling by NTRK1 (TRKA) ⁶⁶ Signaling by NTRK3 (TRKC) ⁶⁶	12.48	SOS1 PTPN11 KRAS HRAS DNM2 CLTC
18	VEGF Pathway (Qiagen) ⁶⁴ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF and VEGFR signaling network ⁶¹ VEGF Family Ligands and Receptor Interactions ⁶⁴	12.46	SOS1 RAF1 KRAS HRAS
19	MET promotes cell motility ⁶⁶ Show member pathways Beta1 integrin cell surface interactions ⁶¹ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.45	SOS1 PTPN11 KRAS HRAS
20	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.45	SOS1 RAF1 PTPN11 KRAS HRAS
21	MAPK signaling pathway ⁷⁴	12.44	HRAS KRAS RAF1 SOS1
22	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²² Extra-nuclear estrogen signaling ⁶⁶	12.4	SOS1 RAF1 PTPN11 KRAS HRAS
23	Immune response Fc epsilon RI pathway ²² Show member pathways Fc-epsilon receptor I signaling in mast cells ⁶¹ Immune response BCR pathway ²²	12.37	HRAS PTPN11 RAF1 SOS1
24	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.37	SOS1 RAF1 PTPN11 KRAS HRAS
25	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.35	SOS1 RAF1 PTPN11 HRAS
26	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.35	RAF1 PTPN11 KRAS HRAS
27	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.35	SOS1 RAF1 PTPN11 KRAS HRAS
28	PDGFR-beta signaling pathway ⁶¹ Show member pathways ErbB1 downstream signaling ⁶¹	12.3	SOS1 RAF1 PTPN11 DNM2
29	Signaling by FGFR2 ⁶⁶ Show member pathways FGFR2 ligand binding and activation ⁶⁶ FGFR2b ligand binding and activation ⁶⁶ Signaling by FGFR ⁶⁶	12.3	SOS1 PTPN11 KRAS HRAS
30	Integrin-mediated cell adhesion ⁷⁴ Show member pathways HGF Pathway ⁶⁴	12.29	SOS1 RAF1 KRAS HRAS
31	Cell surface interactions at the vascular wall ⁶⁶ Show member pathways Fibronectin matrix formation ⁶⁶ PECAM1 interactions ⁶⁶ Tie2 Signaling ⁶⁶	12.25	SOS1 PTPN11 KRAS HRAS
32	VEGF Signaling Pathway ⁶⁰ ⁶⁷ Show member pathways Nanoparticle-mediated activation of receptor signaling ⁷⁴ TGF-beta Signaling ⁶⁷	12.24	SOS1 RAF1 KRAS HRAS
33	GDNF-Family Ligands and Receptor Interactions ⁶⁴ Show member pathways BDNF Pathway ⁶⁴ Development GDNF family signaling ²²	12.23	SOS1 RAF1 KRAS HRAS
34	Immune response CD16 signaling in NK cells ²² Show member pathways Immune response Role of DAP12 receptors in NK cells ²²	12.22	HRAS PTPN11 RAF1 SOS1
35	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	12.2	SOS1 RAF1 KRAS HRAS
36	NGF Pathway ⁶⁴ Show member pathways MAPK and NFkB signaling pathways inhibited by Yersinia YopJ ⁷⁴ TRKA Signaling ⁶⁴	12.2	SOS1 RAF1 KRAS HRAS
37	Apoptosis and survival BAD phosphorylation ²² Show member pathways BAD Phosphorylation ⁶⁴	12.19	SOS1 RAF1 PTPN11 HRAS
38	Ras signaling ⁷⁴	12.17	SOS1 RAF1 PTPN11 KRAS HRAS
39	FLT3 signaling in disease ⁶⁶ Show member pathways FLT3 Signaling ⁶⁶ FLT3 signaling by CBL mutants ⁶⁶ FLT3 signaling through SRC family kinases ⁶⁶ Negative regulation of FLT3 ⁶⁶ Signaling by FLT3 fusion proteins ⁶⁶ Signaling by FLT3 ITD and TKD mutants ⁶⁶ STAT5 Activation ⁶⁶ STAT5 activation downstream of FLT3 ITD mutants ⁶⁶	12.13	SOS1 PTPN11 KRAS HRAS
40	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	12.01	SOS1 RAF1 PTPN11 HRAS
41	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	12	SOS1 KRAS HRAS
42	Development EGFR signaling via small GTPases ²² Show member pathways Development EGFR signaling via PIP3 ²² Development PDGF signaling via MAPK cascades ²²	11.98	HRAS KRAS RAF1 SOS1
43	Signalling to ERKs ⁶⁶ Show member pathways ARMS-mediated activation ⁶⁶ Frs2-mediated activation ⁶⁶ p38MAPK events ⁶⁶ Prolonged ERK activation events ⁶⁶ Signalling to p38 via RIT and RIN ⁶⁶ Signalling to RAS ⁶⁶	11.96	SOS1 KRAS HRAS
44	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.96	SOS1 KRAS HRAS
45	DNA damage response (only ATM dependent) ⁷⁴	11.95	SOS1 KRAS HRAS
46	TGF-beta Signaling Pathways ⁶⁵	11.92	SOS1 RAF1 KRAS
47	Signaling by SCF-KIT ⁶⁶ Show member pathways Regulation of KIT signaling ⁶⁶ Signaling by KIT in disease ⁶⁶ Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants ⁶⁶	11.9	HRAS KRAS PTPN11 SOS1
48	FGFR1 mutant receptor activation ⁶⁶ Show member pathways Signaling by cytosolic FGFR1 fusion mutants ⁶⁶ Signaling by FGFR1 in disease ⁶⁶ Signaling by plasma membrane FGFR1 fusions ⁶⁶	11.89	SOS1 KRAS HRAS
49	Signaling by EGFR ⁶⁶ Show member pathways EGFR downregulation ⁶⁶ GAB1 signalosome ⁶⁶	11.88	SOS1 PTPN11 KRAS HRAS
50	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.85	SOS1 RAF1 HRAS

Sources

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

Sources for Noonan Syndrome 3

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Noonan Syndrome 3 (NS3)

Aliases & Classifications for Noonan Syndrome 3

MalaCards integrated aliases for Noonan Syndrome 3:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Noonan Syndrome 3

Related Diseases for Noonan Syndrome 3

Diseases in the Noonan Syndrome 1 family:

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

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

Symptoms & Phenotypes for Noonan Syndrome 3

Human phenotypes related to Noonan Syndrome 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Noonan Syndrome 3:

Drugs & Therapeutics for Noonan Syndrome 3

Cochrane evidence based reviews: noonan syndrome 3

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

Anatomical Context for Noonan Syndrome 3

Organs/tissues related to Noonan Syndrome 3:

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

Genes for Noonan Syndrome 3

Genes related to Noonan Syndrome 3 (4 elite genes):

Variations for Noonan Syndrome 3

ClinVar genetic disease variations for Noonan Syndrome 3:

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

Expression for Noonan Syndrome 3

Pathways for Noonan Syndrome 3

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

GO Terms for Noonan Syndrome 3

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

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

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

Sources for Noonan Syndrome 3