MCID: NNN033
MIFTS: 29

Noonan Syndrome and Noonan-Related Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

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 6

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 villonodular synovitis and pontocerebellar hypoplasia, type 8. An important gene associated with Noonan Syndrome and Noonan-Related Syndrome is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Innate Immune System and HIV Life Cycle. Affiliated tissues include skin, heart and thyroid, and related phenotypes are Increased shRNA abundance (Z-score > 2) 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 all 29)
# Related Disease Score Top Affiliating Genes
1 villonodular synovitis 9.9 SOS1 PTPN11
2 pontocerebellar hypoplasia, type 8 9.9 RAF1 BRAF
3 pilomyxoid astrocytoma 9.9 RAF1 BRAF
4 cystic lymphangioma 9.9 SOS1 PTPN11
5 embryonal rhabdomyosarcoma 9.8 SOS1 PTPN11
6 heart septal defect 9.8 SOS1 PTPN11
7 thyroid carcinoma, familial medullary 9.8 RAF1 BRAF
8 patent ductus arteriosus 1 9.7 SOS1 PTPN11
9 skin squamous cell carcinoma 9.6 RAF1 BRAF
10 neurofibromatosis-noonan syndrome 9.6 PTPN11 MAP2K2
11 noonan syndrome 3 9.5 SOS1 RAF1 PTPN11
12 adenocarcinoma 9.5 SOS1 RAF1 BRAF
13 lentigines 9.5 RAF1 PTPN11 BRAF
14 hypertelorism 9.5 RAF1 PTPN11 BRAF
15 skin granular cell tumor 9.3 SOS1 PTPN11 MAP2K2
16 pulmonary valve disease 9.3 SOS1 PTPN11 MAP2K2
17 melanoma, cutaneous malignant 1 9.3 RAF1 MAP2K2 BRAF
18 pulmonary valve stenosis 9.3 SOS1 PTPN11 MAP2K2
19 juvenile myelomonocytic leukemia 9.1 SOS1 RAF1 PTPN11 BRAF
20 leukemia 9.1 SOS1 RAF1 PTPN11 BRAF
21 pancreatic adenocarcinoma 9.1 RAF1 MAP2K2 BRAF
22 costello syndrome 8.9 SOS1 PTPN11 MAP2K2 BRAF
23 gastric adenocarcinoma 8.8 RAF1 MAP2K2 BRAF
24 pulmonic stenosis 8.5 SOS1 RAF1 PTPN11 MAP2K2 BRAF
25 rasopathy 8.5 SOS1 RAF1 PTPN11 MAP2K2 BRAF
26 cardiofaciocutaneous syndrome 1 8.5 SOS1 RAF1 PTPN11 MAP2K2 BRAF
27 leopard syndrome 8.5 SOS1 RAF1 PTPN11 MAP2K2 BRAF
28 hypertrophic cardiomyopathy 8.5 SOS1 RAF1 PTPN11 MAP2K2 BRAF
29 noonan syndrome 1 8.5 SOS1 RAF1 PTPN11 MAP2K2 BRAF

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:

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 SOS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.09 BRAF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.09 PTPN11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.09 SOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 PTPN11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.09 SOS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 PTPN11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 BRAF PTPN11 RAF1 SOS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 RAF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 RAF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 BRAF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.09 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.09 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 PTPN11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 BRAF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 BRAF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.09 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.09 BRAF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.09 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 BRAF PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 RAF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.09 PTPN11
23 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 PTPN11
24 Decreased cell migration GR00055-A-1 9.43 BRAF MAP2K2 SOS1
25 Increased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.33 BRAF MAP2K2 RAF1
26 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 BRAF MAP2K2 PTPN11

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.89 BRAF MAP2K2 PTPN11 RAF1 SOS1
2 cellular MP:0005384 9.88 BRAF MAP2K2 PTPN11 RAF1 SOS1
3 craniofacial MP:0005382 9.85 BRAF MAP2K2 PTPN11 RAF1 SOS1
4 endocrine/exocrine gland MP:0005379 9.8 BRAF MAP2K2 PTPN11 RAF1 SOS1
5 digestive/alimentary MP:0005381 9.73 BRAF MAP2K2 PTPN11 SOS1
6 integument MP:0010771 9.72 BRAF MAP2K2 PTPN11 RAF1 SOS1
7 hearing/vestibular/ear MP:0005377 9.67 BRAF MAP2K2 PTPN11 RAF1
8 muscle MP:0005369 9.56 BRAF PTPN11 RAF1 SOS1
9 neoplasm MP:0002006 9.46 BRAF MAP2K2 PTPN11 RAF1
10 skeleton MP:0005390 9.35 BRAF MAP2K2 PTPN11 RAF1 SOS1
11 vision/eye MP:0005391 9.02 BRAF MAP2K2 PTPN11 RAF1 SOS1

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

MalaCards organs/tissues related to Noonan Syndrome and Noonan-Related Syndrome:

40
Skin, Heart, Thyroid

Publications for Noonan Syndrome and Noonan-Related Syndrome

Variations for Noonan Syndrome and Noonan-Related Syndrome

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

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)SNV Pathogenic 180784 rs397516903 7:140501333-140501333 7:140801533-140801533
2 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser)SNV Pathogenic 12872 rs267607079 2:39249913-39249913 2:39022772-39022772
3 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)SNV Pathogenic 40347 rs397507466 7:140501337-140501337 7:140801537-140801537
4 BRAF NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)SNV Pathogenic 40348 rs397507466 7:140501337-140501337 7:140801537-140801537
5 PTPN11 NM_002834.4(PTPN11):c.166A>G (p.Ile56Val)SNV Pathogenic 40485 rs397507504 12:112888150-112888150 12:112450346-112450346
6 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser)SNV Pathogenic 40684 rs267607079 2:39249913-39249913 2:39022772-39022772
7 BRAF NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)SNV Pathogenic 55793 rs397509343 7:140501331-140501331 7:140801531-140801531
8 SOS1 NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp)SNV Likely pathogenic 372656 rs137852814 2:39249915-39249915 2:39022774-39022774
9 PTPN11 NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr)SNV Likely pathogenic 477669 rs1052382672 12:112888151-112888151 12:112450347-112450347
10 SOS1 NM_005633.3(SOS1):c.1655G>T (p.Arg552Met)SNV Likely pathogenic 40681 rs397517154 2:39249914-39249914 2:39022773-39022773
11 BRAF NM_004333.6(BRAF):c.739T>G (p.Phe247Val)SNV Likely pathogenic 44830 rs397516903 7:140501333-140501333 7:140801533-140801533
12 SOS1 NM_005633.3(SOS1):c.512T>C (p.Val171Ala)SNV Likely pathogenic 45373 rs397517174 2:39281963-39281963 2:39054822-39054822
13 BRAF NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)SNV Likely pathogenic 40349 7:140501332-140501332 7:140801532-140801532
14 SOS1 NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile)SNV Likely pathogenic 636262 2:39241979-39241979 2:39014838-39014838
15 MAP2K2 NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu)SNV Uncertain significance 40818 rs730880511 19:4101030-4101030 19:4101032-4101032
16 MAP2K2 NM_030662.3(MAP2K2):c.692G>A (p.Arg231His)SNV Uncertain significance 543999 rs730880511 19:4101030-4101030 19:4101032-4101032
17 SOS1 NM_005633.3(SOS1):c.1867_1869delinsGAA (p.Phe623Glu)indel Uncertain significance 636263 2:39241977-39241979 2:39014836-39014838
18 SOS1 NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu)SNV Likely benign 40733 rs141594736 2:39213367-39213367 2:38986226-38986226
19 RAF1 NM_002880.3(RAF1):c.94A>G (p.Ile32Val)SNV Benign 40584 rs372738063 3:12660127-12660127 3:12618628-12618628
20 SOS1 NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser)SNV Benign 40664 rs190222208 2:39262409-39262409 2:39035268-39035268

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 155)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 SOS1 RAF1 PTPN11 MAP2K2 BRAF
2
Show member pathways
13.55 SOS1 RAF1 PTPN11 MAP2K2 BRAF
3
Show member pathways
13.39 SOS1 RAF1 PTPN11 MAP2K2 BRAF
4
Show member pathways
13.37 SOS1 RAF1 MAP2K2 BRAF
5
Show member pathways
13.36 SOS1 RAF1 PTPN11 MAP2K2 BRAF
6
Show member pathways
13.25 SOS1 RAF1 MAP2K2 BRAF
7
Show member pathways
13.24 SOS1 RAF1 PTPN11 MAP2K2 BRAF
8
Show member pathways
13.15 SOS1 RAF1 MAP2K2 BRAF
9
Show member pathways
13.08 SOS1 RAF1 MAP2K2 BRAF
10
Show member pathways
13.02 SOS1 RAF1 MAP2K2 BRAF
11
Show member pathways
12.97 SOS1 RAF1 MAP2K2 BRAF
12
Show member pathways
12.94 SOS1 RAF1 MAP2K2 BRAF
13
Show member pathways
12.91 SOS1 RAF1 MAP2K2 BRAF
14
Show member pathways
12.82 SOS1 RAF1 MAP2K2 BRAF
15
Show member pathways
12.8 SOS1 RAF1 PTPN11 MAP2K2 BRAF
16
Show member pathways
12.79 SOS1 RAF1 MAP2K2 BRAF
17
Show member pathways
12.78 RAF1 MAP2K2 BRAF
18
Show member pathways
12.78 SOS1 RAF1 MAP2K2 BRAF
19 12.77 SOS1 RAF1 MAP2K2 BRAF
20
Show member pathways
12.76 RAF1 MAP2K2 BRAF
21
Show member pathways
12.76 SOS1 RAF1 PTPN11 MAP2K2 BRAF
22
Show member pathways
12.75 SOS1 RAF1 BRAF
23
Show member pathways
12.74 SOS1 RAF1 MAP2K2 BRAF
24
Show member pathways
12.71 RAF1 MAP2K2 BRAF
25 12.71 SOS1 RAF1 MAP2K2 BRAF
26
Show member pathways
12.7 SOS1 RAF1 MAP2K2 BRAF
27
Show member pathways
12.67 SOS1 RAF1 PTPN11 MAP2K2 BRAF
28
Show member pathways
12.63 SOS1 RAF1 PTPN11 MAP2K2 BRAF
29
Show member pathways
12.62 SOS1 RAF1 MAP2K2 BRAF
30
Show member pathways
12.62 SOS1 RAF1 MAP2K2 BRAF
31
Show member pathways
12.62 SOS1 RAF1 MAP2K2 BRAF
32
Show member pathways
12.6 SOS1 RAF1 PTPN11 MAP2K2 BRAF
33
Show member pathways
12.58 SOS1 RAF1 MAP2K2
34 12.58 SOS1 RAF1 MAP2K2 BRAF
35
Show member pathways
12.57 RAF1 MAP2K2 BRAF
36
Show member pathways
12.56 SOS1 RAF1 MAP2K2
37
Show member pathways
12.56 SOS1 RAF1 PTPN11 MAP2K2
38
Show member pathways
12.54 SOS1 RAF1 MAP2K2
39
Show member pathways
12.54 SOS1 RAF1 PTPN11 MAP2K2
40
Show member pathways
12.53 SOS1 RAF1 PTPN11 MAP2K2
41
Show member pathways
12.52 SOS1 RAF1 MAP2K2
42
Show member pathways
12.5 SOS1 RAF1 MAP2K2
43
Show member pathways
12.49 SOS1 PTPN11 BRAF
44
Show member pathways
12.48 SOS1 RAF1 PTPN11 MAP2K2
45
Show member pathways
12.48 SOS1 RAF1 MAP2K2 BRAF
46
Show member pathways
12.48 SOS1 RAF1 PTPN11 MAP2K2 BRAF
47 12.46 SOS1 RAF1 MAP2K2
48
Show member pathways
12.46 SOS1 RAF1 MAP2K2 BRAF
49
Show member pathways
12.44 SOS1 RAF1 PTPN11 MAP2K2
50
Show member pathways
12.42 RAF1 MAP2K2 BRAF

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 mitochondrion GO:0005739 8.92 RAF1 PTPN11 MAP2K2 BRAF

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.58 RAF1 PTPN11 MAP2K2
2 MAPK cascade GO:0000165 9.56 SOS1 RAF1 MAP2K2 BRAF
3 multicellular organism growth GO:0035264 9.54 SOS1 PTPN11
4 regulation of Rho protein signal transduction GO:0035023 9.52 SOS1 RAF1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.51 RAF1 BRAF
6 thymus development GO:0048538 9.5 RAF1 MAP2K2 BRAF
7 somatic stem cell population maintenance GO:0035019 9.49 RAF1 BRAF
8 epidermal growth factor receptor signaling pathway GO:0007173 9.48 SOS1 PTPN11
9 activation of MAPKK activity GO:0000186 9.46 RAF1 BRAF
10 positive regulation of axonogenesis GO:0050772 9.43 MAP2K2 BRAF
11 regulation of axon regeneration GO:0048679 9.37 MAP2K2 BRAF
12 thyroid gland development GO:0030878 9.33 RAF1 MAP2K2 BRAF
13 neurotrophin TRK receptor signaling pathway GO:0048011 9.13 SOS1 RAF1 PTPN11
14 face development GO:0060324 8.8 RAF1 MAP2K2 BRAF

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.61 RAF1 MAP2K2 BRAF
2 protein heterodimerization activity GO:0046982 9.58 SOS1 RAF1 BRAF
3 protein serine/threonine kinase activity GO:0004674 9.54 RAF1 MAP2K2 BRAF
4 nucleotide binding GO:0000166 9.5 RAF1 MAP2K2 BRAF
5 small GTPase binding GO:0031267 9.26 RAF1 BRAF
6 MAP kinase kinase kinase activity GO:0004709 9.16 RAF1 BRAF
7 Ras GTPase binding GO:0017016 8.96 RAF1 BRAF
8 mitogen-activated protein kinase kinase binding GO:0031434 8.62 RAF1 BRAF

Sources for Noonan Syndrome and Noonan-Related Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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