MCID: NNN033
MIFTS: 40

Noonan Syndrome and Noonan-Related Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Noonan Syndrome and Noonan-Related Syndrome

MalaCards integrated aliases for Noonan Syndrome and Noonan-Related Syndrome:

Name: Noonan Syndrome and Noonan-Related Syndrome 58 5

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA98733

Summaries for Noonan Syndrome and Noonan-Related Syndrome

MalaCards based summary: Noonan Syndrome and Noonan-Related Syndrome is related to spitz nevus and cutaneous-skeletal hypophosphatemia syndrome. An important gene associated with Noonan Syndrome and Noonan-Related Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Disease and ERK Signaling. Affiliated tissues include cortex and heart, and related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)

Related Diseases for Noonan Syndrome and Noonan-Related Syndrome

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

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 spitz nevus 10.3 HRAS BRAF
2 cutaneous-skeletal hypophosphatemia syndrome 10.3 LRRC56 HRAS
3 melphalan allergy 10.3 NRAS BRAF
4 syringocystadenoma papilliferum 10.3 HRAS BRAF
5 childhood leptomeningeal melanoma 10.3 NRAS HRAS
6 malignant anus melanoma 10.3 NRAS HRAS
7 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.3 PTPN11 CBL
8 meningeal melanomatosis 10.3 NRAS HRAS
9 conjunctival nevus 10.3 NRAS HRAS
10 central nervous system melanocytic neoplasm 10.3 NRAS HRAS
11 testicular spermatocytic seminoma 10.2 PTPN11 HRAS
12 malignant struma ovarii 10.2 NRAS HRAS
13 cervix melanoma 10.2 NRAS HRAS
14 acute megakaryoblastic leukemia in down syndrome 10.2 PTPN11 NRAS
15 nuchal bleb, familial 10.2 SOS1 LZTR1
16 lip and oral cavity cancer 10.2 LRRC56 HRAS BRAF
17 acral lentiginous melanoma 10.2 NRAS HRAS BRAF
18 nodular malignant melanoma 10.2 NRAS HRAS BRAF
19 histiocytosis 10.2 NRAS MAP2K1 BRAF
20 melanocytic nevus syndrome, congenital 10.2 NRAS LRRC56 HRAS
21 thyroid gland follicular carcinoma 10.2 NRAS HRAS BRAF
22 villonodular synovitis 10.2 SOS1 PTPN11
23 spitzoid melanoma 10.2 NRAS HRAS
24 large congenital melanocytic nevus 10.2 NRAS LRRC56 HRAS
25 erdheim-chester disease 10.1 NRAS MAP2K1 BRAF
26 trachea carcinoma in situ 10.1 KRAS HRAS
27 common bile duct neoplasm 10.1 KRAS HRAS
28 lentigines 10.1 RAF1 PTPN11 BRAF
29 ampulla of vater benign neoplasm 10.1 KRAS HRAS
30 bladder urachal carcinoma 10.1 KRAS HRAS
31 hepatic flexure cancer 10.1 KRAS HRAS
32 vaginal carcinosarcoma 10.1 KRAS HRAS
33 optic nerve neoplasm 10.1 SPRED1 LZTR1
34 urachus cancer 10.1 KRAS HRAS
35 adenosquamous lung carcinoma 10.1 KRAS HRAS
36 descending colon cancer 10.1 KRAS HRAS
37 mucinous intrahepatic cholangiocarcinoma 10.1 KRAS HRAS
38 sigmoid neoplasm 10.1 KRAS HRAS
39 appendiceal neoplasm 10.1 KRAS HRAS
40 adenofibroma 10.1 KRAS BRAF
41 pancreatic mucinous cystadenoma 10.1 KRAS HRAS
42 transverse colon cancer 10.1 KRAS HRAS
43 legius syndrome 10.1 SPRED1 HRAS
44 liver angiosarcoma 10.1 KRAS HRAS
45 ascending colon cancer 10.1 KRAS HRAS
46 mucinous lung adenocarcinoma 10.1 KRAS HRAS
47 cystadenofibroma 10.1 KRAS HRAS
48 pigmented villonodular synovitis 10.1 SOS1 PTPN11
49 endosalpingiosis 10.1 KRAS HRAS
50 ovarian mucinous neoplasm 10.1 KRAS HRAS

Graphical network of the top 20 diseases related to Noonan Syndrome and Noonan-Related Syndrome:



Diseases related to Noonan Syndrome and Noonan-Related Syndrome

Symptoms & Phenotypes for Noonan Syndrome and Noonan-Related Syndrome

GenomeRNAi Phenotypes related to Noonan Syndrome and Noonan-Related Syndrome according to GeneCards Suite gene sharing:

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.41 CBL HRAS BRAF KRAS
2 Decreased viability GR00055-A-2 10.41 CBL HRAS BRAF KRAS
3 Decreased viability GR00055-A-3 10.41 KRAS
4 Decreased viability GR00106-A-0 10.41 KRAS
5 Decreased viability GR00107-A-1 10.41 MAP2K1
6 Decreased viability GR00221-A-1 10.41 HRAS NRAS KRAS
7 Decreased viability GR00221-A-2 10.41 CBL HRAS KRAS
8 Decreased viability GR00221-A-3 10.41 CBL HRAS MAP2K1 NRAS
9 Decreased viability GR00221-A-4 10.41 BRAF
10 Decreased viability GR00249-S 10.41 BRAF
11 Decreased viability GR00301-A 10.41 BRAF KRAS
12 Decreased viability GR00381-A-1 10.41 BRAF KRAS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.05 RAF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.05 SOS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.05 CBL SOS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.05 SOS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.05 BRAF CBL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.05 RAF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.05 CBL RAF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.05 CBL
21 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.05 SOS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.05 PTPN11
23 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.05 CBL
24 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.05 CBL
25 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.05 CBL
26 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.05 CBL
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.05 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.05 RAF1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.05 SOS1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.05 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.05 RAF1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.05 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.05 CBL
34 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.05 SOS1
35 Reduced mammosphere formation GR00396-S 9.17 BRAF HRAS KRAS NRAS PTPN11 SHOC2

MGI Mouse Phenotypes related to Noonan Syndrome and Noonan-Related Syndrome:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 BRAF CBL HRAS KRAS LRRC56 LZTR1
2 homeostasis/metabolism MP:0005376 10.41 BRAF CBL HRAS KRAS LRRC56 MAP2K1
3 cardiovascular system MP:0005385 10.33 BRAF CBL HRAS KRAS LRRC56 LZTR1
4 craniofacial MP:0005382 10.31 BRAF CBL HRAS KRAS LZTR1 MAP2K1
5 endocrine/exocrine gland MP:0005379 10.28 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
6 normal MP:0002873 10.24 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
7 cellular MP:0005384 10.22 BRAF CBL KRAS LZTR1 MAP2K1 MAP2K2
8 neoplasm MP:0002006 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
9 muscle MP:0005369 10.19 BRAF CBL HRAS KRAS LZTR1 PTPN11
10 hearing/vestibular/ear MP:0005377 10.16 BRAF CBL KRAS MAP2K1 MAP2K2 PTPN11
11 digestive/alimentary MP:0005381 10.16 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
12 embryo MP:0005380 10.13 BRAF KRAS MAP2K1 NRAS PTPN11 RAF1
13 immune system MP:0005387 10.13 BRAF CBL KRAS LRRC56 NRAS PTPN11
14 skeleton MP:0005390 10.1 BRAF CBL HRAS KRAS LZTR1 MAP2K1
15 respiratory system MP:0005388 10.06 BRAF CBL HRAS KRAS LRRC56 PTPN11
16 limbs/digits/tail MP:0005371 10.05 BRAF CBL KRAS NRAS PTPN11 SPRED1
17 reproductive system MP:0005389 10.02 BRAF CBL KRAS LRRC56 MAP2K1 MAP2K2
18 pigmentation MP:0001186 10 BRAF CBL KRAS NRAS PTPN11
19 vision/eye MP:0005391 9.96 BRAF KRAS MAP2K1 MAP2K2 NRAS PTPN11
20 hematopoietic system MP:0005397 9.85 BRAF CBL KRAS LZTR1 NRAS PTPN11
21 mortality/aging MP:0010768 9.8 BRAF CBL HRAS KRAS LRRC56 LZTR1
22 integument MP:0010771 9.44 BRAF CBL HRAS KRAS LRRC56 MAP2K1

Drugs & Therapeutics for Noonan Syndrome and Noonan-Related Syndrome

Search Clinical Trials, NIH Clinical Center for Noonan Syndrome and Noonan-Related Syndrome

Genetic Tests for Noonan Syndrome and Noonan-Related Syndrome

Anatomical Context for Noonan Syndrome and Noonan-Related Syndrome

Organs/tissues related to Noonan Syndrome and Noonan-Related Syndrome:

MalaCards : Cortex, Heart

Publications for Noonan Syndrome and Noonan-Related Syndrome

Articles related to Noonan Syndrome and Noonan-Related Syndrome:

(show all 26)
# Title Authors PMID Year
1
Synergy from gene expression and network mining (SynGeNet) method predicts synergistic drug combinations for diverse melanoma genomic subtypes. 5
30820351 2019
2
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes. 5
29696744 2018
3
Oncogenic Signaling Pathways in The Cancer Genome Atlas. 5
29625050 2018
4
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies. 5
29402968 2018
5
Engineering and Functional Characterization of Fusion Genes Identifies Novel Oncogenic Drivers of Cancer. 5
28512244 2017
6
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome. 5
28378436 2017
7
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes. 5
27304678 2016
8
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 5
26817465 2016
9
Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 5
26297936 2015
10
External ear anomalies and hearing impairment in Noonan Syndrome. 5
25862627 2015
11
Impaired motor cortex plasticity in patients with Noonan syndrome. 5
23763990 2013
12
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 5
23885229 2013
13
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 5
22488759 2012
14
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 5
22465605 2012
15
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 5
21784453 2011
16
RASopathies: Clinical Diagnosis in the First Year of Life. 5
22190897 2011
17
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 5
21387466 2011
18
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. 5
20673819 2010
19
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 5
19352411 2009
20
Dominant-negative ALK2 allele associates with congenital heart defects. 5
19506109 2009
21
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 5
19206169 2009
22
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 5
18854871 2009
23
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. 5
18925667 2008
24
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 5
19020799 2008
25
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 5
17586837 2007
26
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 5
17143282 2007

Variations for Noonan Syndrome and Noonan-Related Syndrome

ClinVar genetic disease variations for Noonan Syndrome and Noonan-Related Syndrome:

5 (show top 50) (show all 558)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPN11 NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) SNV Pathogenic
40485 rs397507504 GRCh37: 12:112888150-112888150
GRCh38: 12:112450346-112450346
2 BRAF NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) SNV Pathogenic
55793 rs397509343 GRCh37: 7:140501331-140501331
GRCh38: 7:140801531-140801531
3 BRAF NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) SNV Pathogenic
180784 rs397516903 GRCh37: 7:140501333-140501333
GRCh38: 7:140801533-140801533
4 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) SNV Pathogenic
40347 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
5 BRAF NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) SNV Pathogenic
177775 rs121913357 GRCh37: 7:140481403-140481403
GRCh38: 7:140781603-140781603
6 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic
177778 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
7 PTPN11 NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) SNV Pathogenic
181496 rs121918464 GRCh37: 12:112888210-112888210
GRCh38: 12:112450406-112450406
8 RIT1 NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) SNV Pathogenic
183407 rs869025194 GRCh37: 1:155874287-155874287
GRCh38: 1:155904496-155904496
9 RIT1 NM_006912.6(RIT1):c.265T>C (p.Tyr89His) SNV Pathogenic
183411 rs869025197 GRCh37: 1:155874266-155874266
GRCh38: 1:155904475-155904475
10 NRAS NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic
219097 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
11 SPRED1 NM_152594.3(SPRED1):c.796_797del (p.Met266fs) DEL Pathogenic
220172 rs864622410 GRCh37: 15:38643326-38643327
GRCh38: 15:38351125-38351126
12 PTPN11 NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) SNV Pathogenic
55797 rs397507509 GRCh37: 12:112888163-112888163
GRCh38: 12:112450359-112450359
13 SOS1 NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) SNV Pathogenic
45379 rs397517180 GRCh37: 2:39262581-39262581
GRCh38: 2:39035440-39035440
14 SOS1 NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) SNV Pathogenic
40669 rs397517147 GRCh37: 2:39250272-39250272
GRCh38: 2:39023131-39023131
15 SOS1 NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) SNV Pathogenic
40649 rs397517164 GRCh37: 2:39285837-39285837
GRCh38: 2:39058696-39058696
16 RAF1 NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) SNV Pathogenic
40616 rs730881002 GRCh37: 3:12632388-12632388
GRCh38: 3:12590889-12590889
17 RAF1 NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) SNV Pathogenic
40603 rs397516827 GRCh37: 3:12645693-12645693
GRCh38: 3:12604194-12604194
18 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) SNV Pathogenic
40507 rs397507518 GRCh37: 12:112888312-112888312
GRCh38: 12:112450508-112450508
19 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic
40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
20 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) SNV Pathogenic
40488 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
21 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic
40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
22 BRAF NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) SNV Pathogenic
40383 rs397507480 GRCh37: 7:140454033-140454033
GRCh38: 7:140754233-140754233
23 HRAS, LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic
35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
24 BRAF NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) SNV Pathogenic
13976 rs180177037 GRCh37: 7:140477813-140477813
GRCh38: 7:140778013-140778013
25 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) SNV Pathogenic
13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346
26 CBL NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) SNV Pathogenic
13807 rs267606704 GRCh37: 11:119148880-119148880
GRCh38: 11:119278170-119278170
27 PTPN11 NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) SNV Pathogenic
13337 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
28 BRAF NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) SNV Pathogenic
40348 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
29 BRAF NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) SNV Pathogenic
40366 rs397507473 GRCh37: 7:140481405-140481405
GRCh38: 7:140781605-140781605
30 HRAS, LRRC56 NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) SNV Pathogenic
12604 rs104894226 GRCh37: 11:534285-534285
GRCh38: 11:534285-534285
31 LZTR1 NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) SNV Pathogenic
373089 rs747430075 GRCh37: 22:21347167-21347167
GRCh38: 22:20992878-20992878
32 SPRED1 NM_152594.3(SPRED1):c.304dup (p.Thr102fs) DUP Pathogenic
536688 rs1555391053 GRCh37: 15:38614537-38614538
GRCh38: 15:38322336-38322337
33 SPRED1 NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) SNV Pathogenic
536693 rs750777752 GRCh37: 15:38591593-38591593
GRCh38: 15:38299392-38299392
34 RIT1 NM_006912.6(RIT1):c.268A>G (p.Met90Val) SNV Pathogenic
561681 GRCh37: 1:155874263-155874263
GRCh38: 1:155904472-155904472
35 SPRED1 NM_152594.3(SPRED1):c.1044_1045del (p.Arg349fs) DEL Pathogenic
1334196 GRCh37: 15:38643574-38643575
GRCh38: 15:38351373-38351374
36 SPRED1 NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) SNV Pathogenic
1334310 rs727504170 GRCh37: 15:38614463-38614463
GRCh38: 15:38322262-38322262
37 KRAS NM_004985.5(KRAS):c.40G>A (p.Val14Ile) SNV Pathogenic
12589 rs104894365 GRCh37: 12:25398279-25398279
GRCh38: 12:25245345-25245345
38 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic
12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
39 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic
13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
40 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic
13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
41 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic
13326 rs28933386 GRCh37: 12:112915523-112915523
GRCh38: 12:112477719-112477719
42 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic
13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
43 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic
13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
44 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic
13329 rs121918460 GRCh37: 12:112888168-112888168
GRCh38: 12:112450364-112450364
45 PTPN11 NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) SNV Pathogenic
13330 rs121918461 GRCh37: 12:112888166-112888166
GRCh38: 12:112450362-112450362
46 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic
13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
47 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic
13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
48 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic
13334 rs121918462 GRCh37: 12:112888202-112888202
GRCh38: 12:112450398-112450398
49 PTPN11 NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) SNV Pathogenic
13335 rs121918463 GRCh37: 12:112915455-112915455
GRCh38: 12:112477651-112477651
50 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic
13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416

Expression for Noonan Syndrome and Noonan-Related Syndrome

Search GEO for disease gene expression data for Noonan Syndrome and Noonan-Related Syndrome.

Pathways for Noonan Syndrome and Noonan-Related Syndrome

Pathways related to Noonan Syndrome and Noonan-Related Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 213)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
2
Show member pathways
13.94 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
3
Show member pathways
13.92 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
4 13.92 SPRED1 SOS1 SHOC2 RIT1 RAF1 PTPN11
5
Show member pathways
13.81 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
6
Show member pathways
13.74 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
7
Show member pathways
13.71 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
8
Show member pathways
13.68 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
9
Show member pathways
13.65 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
10
Show member pathways
13.55 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
11
Show member pathways
13.54 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
12
Show member pathways
13.47 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
13
Show member pathways
13.45 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
14
Show member pathways
13.45 SOS1 PTPN11 NRAS MAP2K1 KRAS HRAS
15
Show member pathways
13.4 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
16
Show member pathways
13.38 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
17
Show member pathways
13.27 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
18
Show member pathways
13.23 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
19
Show member pathways
13.14 HRAS KRAS MAP2K1 MAP2K2 NRAS RAF1
20
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13.12 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
21
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13.11 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
22
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13.11 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
23
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13.09 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
24
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13.08 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
25
Show member pathways
13.06 CBL HRAS MAP2K1 MAP2K2 RAF1 SOS1
26
Show member pathways
13.06 SOS1 RAF1 NRAS MAP2K1 KRAS HRAS
27
Show member pathways
13.06 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
28
Show member pathways
13.04 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
29
Show member pathways
13.04 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
30
Show member pathways
13.01 SOS1 PTPN11 NRAS KRAS HRAS
31
Show member pathways
13.01 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
32
Show member pathways
12.98 SPRED1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
33
Show member pathways
12.96 CBL HRAS MAP2K1 MAP2K2 PTPN11 RAF1
34
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12.94 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
35
Show member pathways
12.93 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
36
Show member pathways
12.92 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
37
Show member pathways
12.9 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
38
Show member pathways
12.9 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
39
Show member pathways
12.9 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
40 12.89 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
41
Show member pathways
12.86 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
42
Show member pathways
12.86 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
43
Show member pathways
12.85 SOS1 PTPN11 NRAS KRAS HRAS
44 12.84 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
45
Show member pathways
12.84 RAF1 PTPN11 NRAS MAP2K2 MAP2K1 KRAS
46
Show member pathways
12.83 SPRED1 SOS1 PTPN11 NRAS KRAS HRAS
47
Show member pathways
12.82 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
48
Show member pathways
12.77 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
49
Show member pathways
12.77 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
50
Show member pathways
12.76 SOS1 RAF1 MAP2K2 MAP2K1 HRAS

GO Terms for Noonan Syndrome and Noonan-Related Syndrome

Cellular components related to Noonan Syndrome and Noonan-Related Syndrome 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 and Noonan-Related Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.36 BRAF CBL HRAS KRAS MAP2K1 NRAS
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.23 PTPN11 MAP2K1 HRAS BRAF
3 positive regulation of MAPK cascade GO:0043410 10.1 RAF1 MAP2K2 MAP2K1 HRAS
4 positive regulation of protein phosphorylation GO:0001934 10.09 RAF1 KRAS HRAS BRAF
5 epidermal growth factor receptor signaling pathway GO:0007173 10.08 BRAF CBL PTPN11 SOS1
6 fibroblast growth factor receptor signaling pathway GO:0008543 10.07 SOS1 SHOC2 PTPN11
7 thymus development GO:0048538 10.06 BRAF MAP2K1 MAP2K2 RAF1
8 ERK1 and ERK2 cascade GO:0070371 10.05 BRAF MAP2K1 MAP2K2
9 positive regulation of axonogenesis GO:0050772 10 BRAF MAP2K1 MAP2K2
10 neurotrophin TRK receptor signaling pathway GO:0048011 9.97 SOS1 RAF1 PTPN11
11 thyroid gland development GO:0030878 9.97 RAF1 MAP2K2 MAP2K1 BRAF
12 Bergmann glial cell differentiation GO:0060020 9.92 PTPN11 MAP2K1
13 regulation of stress-activated MAPK cascade GO:0032872 9.91 MAP2K2 MAP2K1
14 regulation of early endosome to late endosome transport GO:2000641 9.9 MAP2K2 MAP2K1
15 trachea formation GO:0060440 9.88 MAP2K1 MAP2K2
16 face development GO:0060324 9.86 RAF1 MAP2K2 MAP2K1 BRAF
17 regulation of Golgi inheritance GO:0090170 9.85 MAP2K2 MAP2K1
18 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.84 MAP2K2 MAP2K1
19 regulation of axon regeneration GO:0048679 9.83 MAP2K2 MAP2K1 BRAF
20 cerebellar cortex formation GO:0021697 9.81 PTPN11 MAP2K1
21 insulin receptor signaling pathway GO:0008286 9.78 SOS1 RAF1 HRAS
22 Ras protein signal transduction GO:0007265 9.73 HRAS KRAS NRAS RIT1 SHOC2 SOS1
23 positive regulation of protein serine/threonine kinase activity GO:0071902 9.7 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
24 insulin-like growth factor receptor signaling pathway GO:0048009 9.62 MAP2K1 MAP2K2 RAF1 SOS1
25 positive regulation of miRNA maturation GO:1903800 9.57 MAP2K2 MAP2K1
26 MAPK cascade GO:0000165 9.47 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS

Molecular functions related to Noonan Syndrome and Noonan-Related Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.92 RIT1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
2 scaffold protein binding GO:0097110 9.85 MAP2K2 MAP2K1 BRAF
3 GDP binding GO:0019003 9.76 HRAS KRAS NRAS RIT1
4 MAP kinase kinase activity GO:0004708 9.73 MAP2K2 MAP2K1 BRAF
5 MAP-kinase scaffold activity GO:0005078 9.71 MAP2K2 MAP2K1
6 G protein activity GO:0003925 9.56 RIT1 NRAS KRAS HRAS
7 protein serine/threonine kinase activator activity GO:0043539 9.23 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS

Sources for Noonan Syndrome and Noonan-Related Syndrome

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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