NS9
MCID: NNN024
MIFTS: 36

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 57 12 75 29 6 15
Ns9 57 12 75
Syndrome, Noonan, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
noonan syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome 9

UniProtKB/Swiss-Prot : 75 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 retinitis pigmentosa 33 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 Interferon gamma signaling. The drugs Antiviral Agents and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are hypertelorism and short neck

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

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Noonan Syndrome 9:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 ptosis 32 HP:0000508
4 global developmental delay 32 occasional (7.5%) HP:0001263
5 short stature 32 HP:0004322
6 cryptorchidism 32 HP:0000028
7 webbed neck 32 HP:0000465
8 coarctation of aorta 32 HP:0001680
9 downslanted palpebral fissures 32 HP:0000494
10 pulmonic stenosis 32 HP:0001642
11 curly hair 32 HP:0002212
12 hyperkeratosis pilaris 32 HP:0040180
13 abnormal cardiac septum morphology 32 HP:0001671
14 sparse and thin eyebrow 32 HP:0000535

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 Antiviral Agents Phase 1
2 Immunologic Factors Phase 1
3 Liver Extracts Phase 1
4 Poly I-C Phase 1
5 Anti-Infective Agents Phase 1
6 Interferon Inducers Phase 1
7 interferons 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 29 SOS2

Anatomical Context for Noonan Syndrome 9

MalaCards organs/tissues related to Noonan Syndrome 9:

41
Skin, Heart, Eye

Publications for Noonan Syndrome 9

Articles related to Noonan Syndrome 9:

# Title Authors Year
1
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:

75
# 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 148)
# 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_006939.3(SOS2): c.2443A> G (p.Asn815Asp) single nucleotide variant Uncertain significance rs886041958 GRCh37 Chromosome 14, 50612256: 50612256
6 SOS2 NM_006939.3(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_006939.3(SOS2): c.3584C> T (p.Ala1195Val) single nucleotide variant Uncertain significance rs753151750 GRCh37 Chromosome 14, 50585477: 50585477
26 SOS2 NM_006939.3(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 GRCh37 Chromosome 14, 50666423: 50666423
34 SOS2 NM_006939.3(SOS2): c.496A> G (p.Met166Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50199705: 50199705
35 SOS2 NM_006939.3(SOS2): c.3781A> C (p.Thr1261Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50585280: 50585280
36 SOS2 NM_006939.3(SOS2): c.3781A> C (p.Thr1261Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50118562: 50118562
37 SOS2 NM_006939.3(SOS2): c.3744G> T (p.Trp1248Cys) single nucleotide variant Benign/Likely benign rs138133010 GRCh37 Chromosome 14, 50585317: 50585317
38 SOS2 NM_006939.3(SOS2): c.3744G> T (p.Trp1248Cys) single nucleotide variant Benign/Likely benign rs138133010 GRCh38 Chromosome 14, 50118599: 50118599
39 SOS2 NM_006939.3(SOS2): c.600T> C (p.Tyr200=) single nucleotide variant Likely benign rs766470992 GRCh37 Chromosome 14, 50655329: 50655329
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.3088A> G (p.Thr1030Ala) single nucleotide variant Likely benign rs550680554 GRCh37 Chromosome 14, 50597468: 50597468
42 SOS2 NM_006939.3(SOS2): c.3066A> G (p.Pro1022=) single nucleotide variant Benign rs201696354 GRCh37 Chromosome 14, 50600850: 50600850
43 SOS2 NM_006939.3(SOS2): c.3066A> G (p.Pro1022=) single nucleotide variant Benign rs201696354 GRCh38 Chromosome 14, 50134132: 50134132
44 SOS2 NM_006939.3(SOS2): c.2625A> T (p.Ala875=) single nucleotide variant Benign rs761442415 GRCh37 Chromosome 14, 50611930: 50611930
45 SOS2 NM_006939.3(SOS2): c.2625A> T (p.Ala875=) single nucleotide variant Benign rs761442415 GRCh38 Chromosome 14, 50145212: 50145212
46 SOS2 NM_006939.3(SOS2): c.600T> C (p.Tyr200=) single nucleotide variant Likely benign rs766470992 GRCh38 Chromosome 14, 50188611: 50188611
47 SOS2 NM_006939.3(SOS2): c.2604C> T (p.Gly868=) single nucleotide variant Likely benign rs765945171 GRCh37 Chromosome 14, 50611951: 50611951
48 SOS2 NM_006939.3(SOS2): c.2604C> T (p.Gly868=) single nucleotide variant Likely benign rs765945171 GRCh38 Chromosome 14, 50145233: 50145233
49 SOS2 NM_006939.3(SOS2): c.2162-10C> T single nucleotide variant Likely benign rs375702667 GRCh37 Chromosome 14, 50616958: 50616958
50 SOS2 NM_006939.3(SOS2): c.2162-10C> T single nucleotide variant Likely benign rs375702667 GRCh38 Chromosome 14, 50150240: 50150240

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 11.95 IFNA1 IRF3 RNASEL
2
Show member pathways
11.82 IFNA1 IRF3 RNASEL
3
Show member pathways
11.71 IFNA1 IRF3 RNASEL
4 11.04 IFNA1 IRF3 RNASEL SOS2
5
Show member pathways
10.43 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 response to exogenous dsRNA GO:0043330 9.16 IFNA1 IRF3
3 defense response to virus GO:0051607 9.13 IFNA1 IRF3 RNASEL
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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