NS9
MCID: NNN024
MIFTS: 39

Noonan Syndrome 9 (NS9)

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 9

MalaCards integrated aliases for Noonan Syndrome 9:

Name: Noonan Syndrome 9 58 12 76 30 6 15
Ns9 58 12 76
Syndrome, Noonan, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
five patients from 3 unrelated families have been reported (last curated september 2015)


HPO:

33
noonan syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome 9

UniProtKB/Swiss-Prot : 76 Noonan syndrome 9: 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 9, also known as ns9, is related to noonan syndrome 1 and noonan syndrome 2. An important gene associated with Noonan Syndrome 9 is SOS2 (SOS Ras/Rho Guanine Nucleotide Exchange Factor 2), and among its related pathways/superpathways are NF-kappaB Signaling and Immune response IFN alpha/beta signaling pathway. The drugs Interferon Inducers and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are global developmental delay and hypertelorism

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the SOS2 gene on chromosome 14q21.

OMIM : 58 Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (616559)

Related Diseases for Noonan Syndrome 9

Graphical network of the top 20 diseases related to Noonan Syndrome 9:



Diseases related to Noonan Syndrome 9

Symptoms & Phenotypes for Noonan Syndrome 9

Human phenotypes related to Noonan Syndrome 9:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 hypertelorism 33 HP:0000316
3 short neck 33 HP:0000470
4 ptosis 33 HP:0000508
5 short stature 33 HP:0004322
6 cryptorchidism 33 HP:0000028
7 webbed neck 33 HP:0000465
8 coarctation of aorta 33 HP:0001680
9 downslanted palpebral fissures 33 HP:0000494
10 pulmonic stenosis 33 HP:0001642
11 curly hair 33 HP:0002212
12 hyperkeratosis pilaris 33 HP:0040180
13 abnormal cardiac septum morphology 33 HP:0001671
14 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

Growth Height:
short stature

Skin Nails Hair Hair:
curly hair
sparse eyebrows

Cardiovascular Heart:
pulmonary valve stenosis
septal defects
coarctation of the aorta
cardiac malformations

Hematology:
coagulation defects

Head And Neck Neck:
short neck
webbed neck

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
hyperkeratosis pilaris
ulerythema ophryogenes

Neurologic Central Nervous System:
learning disabilities (in some patients)
developmental delay (in some patients)

Clinical features from OMIM:

616559

Drugs & Therapeutics for Noonan Syndrome 9

Drugs for Noonan Syndrome 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Interferon Inducers Phase 1
2 Anti-Infective Agents Phase 1
3 Antiviral Agents Phase 1
4 interferons Phase 1
5 Poly I-C Phase 1
6 Immunologic Factors Phase 1
7 Liver Extracts Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of NS-9 in Patients With Liver Metastases Completed NCT00094003 Phase 1 NS-9 [Poly I: Poly C]

Search NIH Clinical Center for Noonan Syndrome 9

Genetic Tests for Noonan Syndrome 9

Genetic tests related to Noonan Syndrome 9:

# Genetic test Affiliating Genes
1 Noonan Syndrome 9 30 SOS2

Anatomical Context for Noonan Syndrome 9

MalaCards organs/tissues related to Noonan Syndrome 9:

42
Skin, Eye

Publications for Noonan Syndrome 9

Articles related to Noonan Syndrome 9:

# Title Authors Year
1
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. ( 30707178 )
2019
2
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. ( 25795793 )
2015
3
Lactobacillus fermentum NS9 restores the antibiotic induced physiological and psychological abnormalities in rats. ( 25869281 )
2015

Variations for Noonan Syndrome 9

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 9:

76
# Symbol AA change Variation ID SNP ID
1 SOS2 p.Met267Lys VAR_075686 rs797045167
2 SOS2 p.Thr376Ser VAR_075689 rs869320687

ClinVar genetic disease variations for Noonan Syndrome 9:

6 (show top 50) (show all 150)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOS2 NM_006939.3(SOS2): c.1127C> G (p.Thr376Ser) single nucleotide variant Pathogenic rs869320687 GRCh37 Chromosome 14, 50628269: 50628269
2 SOS2 NM_006939.3(SOS2): c.1127C> G (p.Thr376Ser) single nucleotide variant Pathogenic rs869320687 GRCh38 Chromosome 14, 50161551: 50161551
3 SOS2 NM_006939.3(SOS2): c.800T> A (p.Met267Lys) single nucleotide variant Pathogenic rs797045167 GRCh37 Chromosome 14, 50649239: 50649239
4 SOS2 NM_006939.3(SOS2): c.800T> A (p.Met267Lys) single nucleotide variant Pathogenic rs797045167 GRCh38 Chromosome 14, 50182521: 50182521
5 SOS2 NM_006939.2(SOS2): c.2443A> G (p.Asn815Asp) single nucleotide variant Uncertain significance rs886041958 GRCh37 Chromosome 14, 50612256: 50612256
6 SOS2 NM_006939.2(SOS2): c.2443A> G (p.Asn815Asp) single nucleotide variant Uncertain significance rs886041958 GRCh38 Chromosome 14, 50145538: 50145538
7 SOS2 NM_006939.3(SOS2): c.674G> A (p.Arg225Gln) single nucleotide variant Uncertain significance rs780580623 GRCh37 Chromosome 14, 50655255: 50655255
8 SOS2 NM_006939.3(SOS2): c.674G> A (p.Arg225Gln) single nucleotide variant Uncertain significance rs780580623 GRCh38 Chromosome 14, 50188537: 50188537
9 SOS2 NM_006939.3(SOS2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61755576 GRCh37 Chromosome 14, 50597321: 50597321
10 SOS2 NM_006939.3(SOS2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61755576 GRCh38 Chromosome 14, 50130603: 50130603
11 SOS2 NM_006939.3(SOS2): c.2317G> C (p.Asp773His) single nucleotide variant Likely benign rs114711076 GRCh37 Chromosome 14, 50616793: 50616793
12 SOS2 NM_006939.3(SOS2): c.2317G> C (p.Asp773His) single nucleotide variant Likely benign rs114711076 GRCh38 Chromosome 14, 50150075: 50150075
13 SOS2 NM_006939.3(SOS2): c.3075+7C> T single nucleotide variant Benign rs144391749 GRCh37 Chromosome 14, 50600834: 50600834
14 SOS2 NM_006939.3(SOS2): c.3075+7C> T single nucleotide variant Benign rs144391749 GRCh38 Chromosome 14, 50134116: 50134116
15 SOS2 NM_006939.3(SOS2): c.2162-4C> A single nucleotide variant Benign rs57179949 GRCh37 Chromosome 14, 50616952: 50616952
16 SOS2 NM_006939.3(SOS2): c.2162-4C> A single nucleotide variant Benign rs57179949 GRCh38 Chromosome 14, 50150234: 50150234
17 SOS2 NM_006939.3(SOS2): c.622G> A (p.Ala208Thr) single nucleotide variant Benign rs61755579 GRCh37 Chromosome 14, 50655307: 50655307
18 SOS2 NM_006939.3(SOS2): c.622G> A (p.Ala208Thr) single nucleotide variant Benign rs61755579 GRCh38 Chromosome 14, 50188589: 50188589
19 SOS2 NM_006939.3(SOS2): c.1448G> A (p.Ser483Asn) single nucleotide variant Benign rs17122201 GRCh37 Chromosome 14, 50626553: 50626553
20 SOS2 NM_006939.3(SOS2): c.1448G> A (p.Ser483Asn) single nucleotide variant Benign rs17122201 GRCh38 Chromosome 14, 50159835: 50159835
21 SOS2 NM_006939.3(SOS2): c.591A> G (p.Leu197=) single nucleotide variant Benign rs113460230 GRCh37 Chromosome 14, 50655338: 50655338
22 SOS2 NM_006939.3(SOS2): c.591A> G (p.Leu197=) single nucleotide variant Benign rs113460230 GRCh38 Chromosome 14, 50188620: 50188620
23 SOS2 NM_006939.3(SOS2): c.1344G> A (p.Leu448=) single nucleotide variant Benign rs35530861 GRCh37 Chromosome 14, 50626657: 50626657
24 SOS2 NM_006939.3(SOS2): c.1344G> A (p.Leu448=) single nucleotide variant Benign rs35530861 GRCh38 Chromosome 14, 50159939: 50159939
25 SOS2 NM_006939.2(SOS2): c.3584C> T (p.Ala1195Val) single nucleotide variant Uncertain significance rs753151750 GRCh37 Chromosome 14, 50585477: 50585477
26 SOS2 NM_006939.2(SOS2): c.3584C> T (p.Ala1195Val) single nucleotide variant Uncertain significance rs753151750 GRCh38 Chromosome 14, 50118759: 50118759
27 SOS2 NM_006939.3(SOS2): c.572C> G (p.Pro191Arg) single nucleotide variant Benign rs72681869 GRCh37 Chromosome 14, 50655357: 50655357
28 SOS2 NM_006939.3(SOS2): c.572C> G (p.Pro191Arg) single nucleotide variant Benign rs72681869 GRCh38 Chromosome 14, 50188639: 50188639
29 SOS2 NM_006939.3(SOS2): c.3755_3757delTTA (p.Ile1252del) deletion Conflicting interpretations of pathogenicity rs775506222 GRCh37 Chromosome 14, 50585304: 50585306
30 SOS2 NM_006939.3(SOS2): c.3755_3757delTTA (p.Ile1252del) deletion Conflicting interpretations of pathogenicity rs775506222 GRCh38 Chromosome 14, 50118586: 50118588
31 SOS2 NM_006939.3(SOS2): c.2014C> A (p.Leu672Ile) single nucleotide variant Benign/Likely benign rs34139502 GRCh37 Chromosome 14, 50623760: 50623760
32 SOS2 NM_006939.3(SOS2): c.2014C> A (p.Leu672Ile) single nucleotide variant Benign/Likely benign rs34139502 GRCh38 Chromosome 14, 50157042: 50157042
33 SOS2 NM_006939.3(SOS2): c.496A> G (p.Met166Val) single nucleotide variant Uncertain significance rs1555322175 GRCh37 Chromosome 14, 50666423: 50666423
34 SOS2 NM_006939.3(SOS2): c.496A> G (p.Met166Val) single nucleotide variant Uncertain significance rs1555322175 GRCh38 Chromosome 14, 50199705: 50199705
35 SOS2 NM_006939.3(SOS2): c.3781A> C (p.Thr1261Pro) single nucleotide variant Uncertain significance rs1555367637 GRCh37 Chromosome 14, 50585280: 50585280
36 SOS2 NM_006939.3(SOS2): c.3781A> C (p.Thr1261Pro) single nucleotide variant Uncertain significance rs1555367637 GRCh38 Chromosome 14, 50118562: 50118562
37 SOS2 NM_006939.3(SOS2): c.3744G> T (p.Trp1248Cys) single nucleotide variant Benign/Likely benign rs138133010 GRCh38 Chromosome 14, 50118599: 50118599
38 SOS2 NM_006939.3(SOS2): c.3744G> T (p.Trp1248Cys) single nucleotide variant Benign/Likely benign rs138133010 GRCh37 Chromosome 14, 50585317: 50585317
39 SOS2 NM_006939.3(SOS2): c.3088A> G (p.Thr1030Ala) single nucleotide variant Likely benign rs550680554 GRCh37 Chromosome 14, 50597468: 50597468
40 SOS2 NM_006939.3(SOS2): c.3088A> G (p.Thr1030Ala) single nucleotide variant Likely benign rs550680554 GRCh38 Chromosome 14, 50130750: 50130750
41 SOS2 NM_006939.3(SOS2): c.3066A> G (p.Pro1022=) single nucleotide variant Benign rs201696354 GRCh37 Chromosome 14, 50600850: 50600850
42 SOS2 NM_006939.3(SOS2): c.3066A> G (p.Pro1022=) single nucleotide variant Benign rs201696354 GRCh38 Chromosome 14, 50134132: 50134132
43 SOS2 NM_006939.3(SOS2): c.2625A> T (p.Ala875=) single nucleotide variant Benign rs761442415 GRCh37 Chromosome 14, 50611930: 50611930
44 SOS2 NM_006939.3(SOS2): c.2625A> T (p.Ala875=) single nucleotide variant Benign rs761442415 GRCh38 Chromosome 14, 50145212: 50145212
45 SOS2 NM_006939.3(SOS2): c.2604C> T (p.Gly868=) single nucleotide variant Likely benign rs765945171 GRCh37 Chromosome 14, 50611951: 50611951
46 SOS2 NM_006939.3(SOS2): c.2604C> T (p.Gly868=) single nucleotide variant Likely benign rs765945171 GRCh38 Chromosome 14, 50145233: 50145233
47 SOS2 NM_006939.3(SOS2): c.2162-10C> T single nucleotide variant Likely benign rs375702667 GRCh38 Chromosome 14, 50150240: 50150240
48 SOS2 NM_006939.3(SOS2): c.2162-10C> T single nucleotide variant Likely benign rs375702667 GRCh37 Chromosome 14, 50616958: 50616958
49 SOS2 NM_006939.3(SOS2): c.858+9A> G single nucleotide variant Benign rs201701595 GRCh38 Chromosome 14, 50182454: 50182454
50 SOS2 NM_006939.3(SOS2): c.858+9A> G single nucleotide variant Benign rs201701595 GRCh37 Chromosome 14, 50649172: 50649172

Expression for Noonan Syndrome 9

Search GEO for disease gene expression data for Noonan Syndrome 9.

Pathways for Noonan Syndrome 9

Pathways related to Noonan Syndrome 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.85 IFNA1 IRF3 RNASEL
2
Show member pathways
11.64 IFNA1 IRF3 RNASEL
3
Show member pathways
11.62 IFNA1 IRF3 RNASEL
4
Show member pathways
10.1 POMC SOS2

GO Terms for Noonan Syndrome 9

Biological processes related to Noonan Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.43 IFNA1 POMC SPX
2 defense response to virus GO:0051607 9.13 IFNA1 IRF3 RNASEL
3 response to exogenous dsRNA GO:0043330 8.85 IFNA1
4 type I interferon signaling pathway GO:0060337 8.8 IFNA1 IRF3 RNASEL

Sources for Noonan Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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