MCID: NNN033
MIFTS: 23

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 59 6

Classifications:



External Ids:

Orphanet 59 ORPHA98733

Summaries for Noonan Syndrome and Noonan-Related Syndrome

MalaCards based summary : Noonan Syndrome and Noonan-Related Syndrome is related to villonodular synovitis and pulmonary valve stenosis. 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 Developmental Biology and Cytokine Signaling in Immune system. Related phenotypes are Reduced mammosphere formation and craniofacial

Related Diseases for Noonan Syndrome and Noonan-Related Syndrome

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.8 BRAF PTPN11 SOS1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 BRAF PTPN11 SOS1
2 digestive/alimentary MP:0005381 9.13 BRAF PTPN11 SOS1
3 muscle MP:0005369 8.8 BRAF PTPN11 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

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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SOS1 NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 2:39249913-39249913 2:39022772-39022772
2 BRAF NM_004333.6(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic rs397507466 7:140501337-140501337 7:140801537-140801537
3 BRAF NM_004333.6(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic rs397507466 7:140501337-140501337 7:140801537-140801537
4 PTPN11 NM_002834.4(PTPN11): c.166A> G (p.Ile56Val) single nucleotide variant Pathogenic rs397507504 12:112888150-112888150 12:112450346-112450346
5 SOS1 NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser) single nucleotide variant Pathogenic rs267607079 2:39249913-39249913 2:39022772-39022772
6 BRAF NM_004333.6(BRAF): c.741T> G (p.Phe247Leu) single nucleotide variant Pathogenic rs397509343 7:140501331-140501331 7:140801531-140801531
7 BRAF NM_004333.6(BRAF): c.739T> C (p.Phe247Leu) single nucleotide variant Pathogenic rs397516903 7:140501333-140501333 7:140801533-140801533
8 BRAF NM_004333.6(BRAF): c.739T> G (p.Phe247Val) single nucleotide variant Likely pathogenic rs397516903 7:140501333-140501333 7:140801533-140801533
9 SOS1 NM_005633.3(SOS1): c.512T> C (p.Val171Ala) single nucleotide variant Likely pathogenic rs397517174 2:39281963-39281963 2:39054822-39054822
10 SOS1 NM_005633.3(SOS1): c.1655G> T (p.Arg552Met) single nucleotide variant Likely pathogenic rs397517154 2:39249914-39249914 2:39022773-39022773
11 SOS1 NM_005633.3(SOS1): c.1654A> T (p.Arg552Trp) single nucleotide variant Likely pathogenic rs137852814 2:39249915-39249915 2:39022774-39022774
12 PTPN11 NM_002834.4(PTPN11): c.167T> C (p.Ile56Thr) single nucleotide variant Likely pathogenic rs1052382672 12:112888151-112888151 12:112450347-112450347
13 BRAF NM_004333.6(BRAF): c.740T> C (p.Phe247Ser) single nucleotide variant Likely pathogenic rs397507467 7:140501332-140501332 7:140801532-140801532
14 SOS1 NM_005633.3(SOS1): c.1867T> A (p.Phe623Ile) single nucleotide variant Likely pathogenic 2:39241979-39241979 2:39014838-39014838
15 MAP2K2 NM_030662.3(MAP2K2): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs730880511 19:4101030-4101030 19:4101032-4101032
16 MAP2K2 NM_030662.3(MAP2K2): c.692G> T (p.Arg231Leu) single nucleotide variant Uncertain significance rs730880511 19:4101030-4101030 19:4101032-4101032
17 SOS1 NM_005633.3(SOS1): c.1867_1869delinsGAA (p.Phe623Glu) indel Uncertain significance 2:39241977-39241979 2:39014836-39014838
18 SOS1 NM_005633.3(SOS1): c.3600C> G (p.Asp1200Glu) single nucleotide variant Likely benign rs141594736 2:39213367-39213367 2:38986226-38986226
19 RAF1 NM_002880.3(RAF1): c.94A> G (p.Ile32Val) single nucleotide variant Benign rs372738063 3:12660127-12660127 3:12618628-12618628
20 SOS1 NM_005633.3(SOS1): c.1018C> T (p.Pro340Ser) single nucleotide variant Benign 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 59)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 SOS1 PTPN11 BRAF
2
Show member pathways
13 SOS1 PTPN11 BRAF
3
Show member pathways
12.58 SOS1 PTPN11 BRAF
4
Show member pathways
12.54 SOS1 PTPN11 BRAF
5
Show member pathways
12.44 SOS1 PTPN11 BRAF
6
Show member pathways
12.38 SOS1 PTPN11 BRAF
7
Show member pathways
12.35 SOS1 PTPN11 BRAF
8
Show member pathways
12.18 SOS1 PTPN11
9
Show member pathways
12.18 SOS1 PTPN11 BRAF
10
Show member pathways
12.16 SOS1 PTPN11 BRAF
11
Show member pathways
12.12 SOS1 PTPN11
12
Show member pathways
12.11 SOS1 PTPN11
13
Show member pathways
12.11 SOS1 PTPN11 BRAF
14
Show member pathways
12.09 SOS1 BRAF
15
Show member pathways
12.05 SOS1 BRAF
16
Show member pathways
11.97 SOS1 PTPN11 BRAF
17
Show member pathways
11.96 SOS1 PTPN11
18
Show member pathways
11.94 SOS1 PTPN11 BRAF
19 11.92 SOS1 BRAF
20
Show member pathways
11.91 SOS1 PTPN11
21
Show member pathways
11.88 SOS1 BRAF
22
Show member pathways
11.88 SOS1 PTPN11
23
Show member pathways
11.83 SOS1 BRAF
24
Show member pathways
11.82 SOS1 PTPN11
25
Show member pathways
11.78 SOS1 BRAF
26
Show member pathways
11.75 SOS1 PTPN11 BRAF
27 11.74 SOS1 PTPN11 BRAF
28 11.73 SOS1 BRAF
29
Show member pathways
11.72 SOS1 PTPN11
30
Show member pathways
11.72 SOS1 PTPN11
31 11.69 SOS1 BRAF
32 11.68 SOS1 BRAF
33
Show member pathways
11.67 SOS1 BRAF
34
Show member pathways
11.66 SOS1 PTPN11
35 11.65 SOS1 BRAF
36
Show member pathways
11.63 SOS1 PTPN11
37
Show member pathways
11.62 SOS1 PTPN11 BRAF
38
Show member pathways
11.59 SOS1 PTPN11
39
Show member pathways
11.48 SOS1 PTPN11
40
Show member pathways
11.43 SOS1 PTPN11
41
Show member pathways
11.41 SOS1 BRAF
42 11.37 SOS1 BRAF
43 11.37 SOS1 PTPN11
44 11.35 SOS1 PTPN11 BRAF
45 11.34 SOS1 PTPN11
46 11.31 SOS1 BRAF
47 11.29 SOS1 PTPN11
48 11.25 SOS1 PTPN11
49 11.24 SOS1 PTPN11
50 11.23 SOS1 BRAF

GO Terms for Noonan Syndrome and Noonan-Related Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.37 SOS1 BRAF
2 axon guidance GO:0007411 9.32 SOS1 PTPN11
3 leukocyte migration GO:0050900 9.26 SOS1 PTPN11
4 multicellular organism growth GO:0035264 9.16 SOS1 PTPN11
5 epidermal growth factor receptor signaling pathway GO:0007173 8.96 SOS1 PTPN11
6 neurotrophin TRK receptor signaling pathway GO:0048011 8.62 SOS1 PTPN11

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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