MCID: NNN024
MIFTS: 27

Noonan Syndrome 9

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Noonan Syndrome 9

MalaCards integrated aliases for Noonan Syndrome 9:

Name: Noonan Syndrome 9 57 12 75 29 6
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, is also known as ns9. An important gene associated with Noonan Syndrome 9 is SOS2 (SOS Ras/Rho Guanine Nucleotide Exchange Factor 2). The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and liver, and related phenotypes are cryptorchidism and hypertelorism

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

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

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

MGI Mouse Phenotypes related to Noonan Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 SOS2 VCPKMT

Drugs & Therapeutics for Noonan Syndrome 9

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

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

Publications for Noonan Syndrome 9

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 122)
# 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.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61755576 GRCh37 Chromosome 14, 50597321: 50597321
6 SOS2 NM_006939.3(SOS2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61755576 GRCh38 Chromosome 14, 50130603: 50130603
7 SOS2 NM_006939.3(SOS2): c.2317G> C (p.Asp773His) single nucleotide variant Likely benign rs114711076 GRCh37 Chromosome 14, 50616793: 50616793
8 SOS2 NM_006939.3(SOS2): c.2317G> C (p.Asp773His) single nucleotide variant Likely benign rs114711076 GRCh38 Chromosome 14, 50150075: 50150075
9 SOS2 NM_006939.3(SOS2): c.3075+7C> T single nucleotide variant Benign rs144391749 GRCh37 Chromosome 14, 50600834: 50600834
10 SOS2 NM_006939.3(SOS2): c.3075+7C> T single nucleotide variant Benign rs144391749 GRCh38 Chromosome 14, 50134116: 50134116
11 SOS2 NM_006939.3(SOS2): c.2162-4C> A single nucleotide variant Benign rs57179949 GRCh37 Chromosome 14, 50616952: 50616952
12 SOS2 NM_006939.3(SOS2): c.2162-4C> A single nucleotide variant Benign rs57179949 GRCh38 Chromosome 14, 50150234: 50150234
13 SOS2 NM_006939.3(SOS2): c.622G> A (p.Ala208Thr) single nucleotide variant Benign rs61755579 GRCh37 Chromosome 14, 50655307: 50655307
14 SOS2 NM_006939.3(SOS2): c.622G> A (p.Ala208Thr) single nucleotide variant Benign rs61755579 GRCh38 Chromosome 14, 50188589: 50188589
15 SOS2 NM_006939.3(SOS2): c.1448G> A (p.Ser483Asn) single nucleotide variant Benign rs17122201 GRCh37 Chromosome 14, 50626553: 50626553
16 SOS2 NM_006939.3(SOS2): c.1448G> A (p.Ser483Asn) single nucleotide variant Benign rs17122201 GRCh38 Chromosome 14, 50159835: 50159835
17 SOS2 NM_006939.3(SOS2): c.591A> G (p.Leu197=) single nucleotide variant Benign rs113460230 GRCh37 Chromosome 14, 50655338: 50655338
18 SOS2 NM_006939.3(SOS2): c.591A> G (p.Leu197=) single nucleotide variant Benign rs113460230 GRCh38 Chromosome 14, 50188620: 50188620
19 SOS2 NM_006939.3(SOS2): c.1344G> A (p.Leu448=) single nucleotide variant Benign rs35530861 GRCh37 Chromosome 14, 50626657: 50626657
20 SOS2 NM_006939.3(SOS2): c.1344G> A (p.Leu448=) single nucleotide variant Benign rs35530861 GRCh38 Chromosome 14, 50159939: 50159939
21 SOS2 NM_006939.3(SOS2): c.3584C> T (p.Ala1195Val) single nucleotide variant Uncertain significance rs753151750 GRCh37 Chromosome 14, 50585477: 50585477
22 SOS2 NM_006939.3(SOS2): c.3584C> T (p.Ala1195Val) single nucleotide variant Uncertain significance rs753151750 GRCh38 Chromosome 14, 50118759: 50118759
23 SOS2 NM_006939.3(SOS2): c.572C> G (p.Pro191Arg) single nucleotide variant Benign rs72681869 GRCh37 Chromosome 14, 50655357: 50655357
24 SOS2 NM_006939.3(SOS2): c.572C> G (p.Pro191Arg) single nucleotide variant Benign rs72681869 GRCh38 Chromosome 14, 50188639: 50188639
25 SOS2 NM_006939.3(SOS2): c.3755_3757delTTA (p.Ile1252del) deletion Conflicting interpretations of pathogenicity rs775506222 GRCh37 Chromosome 14, 50585304: 50585306
26 SOS2 NM_006939.3(SOS2): c.3755_3757delTTA (p.Ile1252del) deletion Conflicting interpretations of pathogenicity rs775506222 GRCh38 Chromosome 14, 50118586: 50118588
27 SOS2 NM_006939.3(SOS2): c.2014C> A (p.Leu672Ile) single nucleotide variant Benign/Likely benign rs34139502 GRCh37 Chromosome 14, 50623760: 50623760
28 SOS2 NM_006939.3(SOS2): c.2014C> A (p.Leu672Ile) single nucleotide variant Benign/Likely benign rs34139502 GRCh38 Chromosome 14, 50157042: 50157042
29 SOS2 NM_006939.3(SOS2): c.496A> G (p.Met166Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50666423: 50666423
30 SOS2 NM_006939.3(SOS2): c.496A> G (p.Met166Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50199705: 50199705
31 SOS2 NM_006939.3(SOS2): c.3781A> C (p.Thr1261Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50585280: 50585280
32 SOS2 NM_006939.3(SOS2): c.3781A> C (p.Thr1261Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 50118562: 50118562
33 SOS2 NM_006939.3(SOS2): c.3744G> T (p.Trp1248Cys) single nucleotide variant Benign/Likely benign rs138133010 GRCh38 Chromosome 14, 50118599: 50118599
34 SOS2 NM_006939.3(SOS2): c.3744G> T (p.Trp1248Cys) single nucleotide variant Benign/Likely benign rs138133010 GRCh37 Chromosome 14, 50585317: 50585317
35 SOS2 NM_006939.3(SOS2): c.2162-10C> T single nucleotide variant Likely benign rs375702667 GRCh37 Chromosome 14, 50616958: 50616958
36 SOS2 NM_006939.3(SOS2): c.3088A> G (p.Thr1030Ala) single nucleotide variant Likely benign rs550680554 GRCh37 Chromosome 14, 50597468: 50597468
37 SOS2 NM_006939.3(SOS2): c.3088A> G (p.Thr1030Ala) single nucleotide variant Likely benign rs550680554 GRCh38 Chromosome 14, 50130750: 50130750
38 SOS2 NM_006939.3(SOS2): c.3066A> G (p.Pro1022=) single nucleotide variant Benign rs201696354 GRCh38 Chromosome 14, 50134132: 50134132
39 SOS2 NM_006939.3(SOS2): c.3066A> G (p.Pro1022=) single nucleotide variant Benign rs201696354 GRCh37 Chromosome 14, 50600850: 50600850
40 SOS2 NM_006939.3(SOS2): c.2625A> T (p.Ala875=) single nucleotide variant Benign rs761442415 GRCh37 Chromosome 14, 50611930: 50611930
41 SOS2 NM_006939.3(SOS2): c.2625A> T (p.Ala875=) single nucleotide variant Benign rs761442415 GRCh38 Chromosome 14, 50145212: 50145212
42 SOS2 NM_006939.3(SOS2): c.2604C> T (p.Gly868=) single nucleotide variant Likely benign rs765945171 GRCh38 Chromosome 14, 50145233: 50145233
43 SOS2 NM_006939.3(SOS2): c.2604C> T (p.Gly868=) single nucleotide variant Likely benign rs765945171 GRCh37 Chromosome 14, 50611951: 50611951
44 SOS2 NM_006939.3(SOS2): c.2162-10C> T single nucleotide variant Likely benign rs375702667 GRCh38 Chromosome 14, 50150240: 50150240
45 SOS2 NM_006939.3(SOS2): c.858+9A> G single nucleotide variant Benign rs201701595 GRCh38 Chromosome 14, 50182454: 50182454
46 SOS2 NM_006939.3(SOS2): c.858+9A> G single nucleotide variant Benign rs201701595 GRCh37 Chromosome 14, 50649172: 50649172
47 SOS2 NM_006939.3(SOS2): c.600T> C (p.Tyr200=) single nucleotide variant Likely benign rs766470992 GRCh38 Chromosome 14, 50188611: 50188611
48 SOS2 NM_006939.3(SOS2): c.600T> C (p.Tyr200=) single nucleotide variant Likely benign rs766470992 GRCh37 Chromosome 14, 50655329: 50655329
49 SOS2 NM_006939.3(SOS2): c.3952C> T (p.Pro1318Ser) single nucleotide variant Likely benign rs140995728 GRCh37 Chromosome 14, 50585109: 50585109
50 SOS2 NM_006939.3(SOS2): c.3952C> T (p.Pro1318Ser) single nucleotide variant Likely benign rs140995728 GRCh38 Chromosome 14, 50118391: 50118391

Expression for Noonan Syndrome 9

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

Pathways for Noonan Syndrome 9

GO Terms for Noonan Syndrome 9

Sources for Noonan Syndrome 9

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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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