NS9
MCID: NNN024
MIFTS: 32

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 72 29 6 15
Ns9 57 12 72
Syndrome, Noonan, Type 9 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
noonan syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome 9

UniProtKB/Swiss-Prot : 72 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 hereditary lymphedema i. An important gene associated with Noonan Syndrome 9 is SOS2 (SOS Ras/Rho Guanine Nucleotide Exchange Factor 2). Affiliated tissues include eye, and related phenotypes are global developmental delay and ptosis

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) (Updated 20-May-2021)

Related Diseases for Noonan Syndrome 9

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10 Noonan Syndrome 11
Noonan Syndrome 12 Noonan Syndrome 13

Diseases related to Noonan Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 9.9
2 hereditary lymphedema i 9.9
3 rasopathy 9.9
4 pseudo-turner syndrome 9.9
5 noonan syndrome 10 9.1 KLHDC4 KLHDC3 KLHDC1 FEM1C

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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 ptosis 31 HP:0000508
3 short neck 31 HP:0000470
4 hypertelorism 31 HP:0000316
5 short stature 31 HP:0004322
6 cryptorchidism 31 HP:0000028
7 webbed neck 31 HP:0000465
8 coarctation of aorta 31 HP:0001680
9 downslanted palpebral fissures 31 HP:0000494
10 abnormal cardiac septum morphology 31 HP:0001671
11 pulmonic stenosis 31 HP:0001642
12 curly hair 31 HP:0002212
13 keratosis pilaris 31 HP:0032152
14 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
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:
developmental delay (in some patients)
learning disabilities (in some patients)

Clinical features from OMIM®:

616559 (Updated 20-May-2021)

Drugs & Therapeutics for Noonan Syndrome 9

Search Clinical Trials , 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:

40
Eye

Publications for Noonan Syndrome 9

Articles related to Noonan Syndrome 9:

# Title Authors PMID Year
1
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 6 57
25795793 2015
2
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 6
26173643 2015
3
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. 61
30707178 2019

Variations for Noonan Syndrome 9

ClinVar genetic disease variations for Noonan Syndrome 9:

6 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOS2 NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) SNV Pathogenic 209091 rs869320687 GRCh37: 14:50628269-50628269
GRCh38: 14:50161551-50161551
2 SOS2 NM_006939.4(SOS2):c.800T>C (p.Met267Thr) SNV Pathogenic 373114 rs797045167 GRCh37: 14:50649239-50649239
GRCh38: 14:50182521-50182521
3 SOS2 NM_006939.4(SOS2):c.791C>G (p.Thr264Arg) SNV Pathogenic 974590 GRCh37: 14:50649248-50649248
GRCh38: 14:50182530-50182530
4 SOS2 NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) SNV Pathogenic 684626 rs1595001710 GRCh37: 14:50649248-50649248
GRCh38: 14:50182530-50182530
5 SOS2 NM_006939.4(SOS2):c.800T>A (p.Met267Lys) SNV Pathogenic 209092 rs797045167 GRCh37: 14:50649239-50649239
GRCh38: 14:50182521-50182521
6 SOS2 NM_006939.4(SOS2):c.800T>G (p.Met267Arg) SNV Pathogenic/Likely pathogenic 577079 rs797045167 GRCh37: 14:50649239-50649239
GRCh38: 14:50182521-50182521
7 SOS2 NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys) Indel Likely pathogenic 974591 GRCh37: 14:50649239-50649241
GRCh38: 14:50182521-50182523
8 SOS2 NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg) SNV Conflicting interpretations of pathogenicity 859843 GRCh37: 14:50585064-50585064
GRCh38: 14:50118346-50118346
9 SOS2 NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu) SNV Uncertain significance 863213 GRCh37: 14:50616846-50616846
GRCh38: 14:50150128-50150128
10 SOS2 NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys) SNV Uncertain significance 864479 GRCh37: 14:50626681-50626681
GRCh38: 14:50159963-50159963
11 SOS2 NM_006939.4(SOS2):c.2384+5A>G SNV Uncertain significance 475745 rs376903120 GRCh37: 14:50616721-50616721
GRCh38: 14:50150003-50150003
12 SOS2 NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) SNV Uncertain significance 475746 rs751419448 GRCh37: 14:50611953-50611953
GRCh38: 14:50145235-50145235
13 SOS2 NM_006939.4(SOS2):c.714T>G (p.Ser238=) SNV Uncertain significance 565460 rs750665891 GRCh37: 14:50655215-50655215
GRCh38: 14:50188497-50188497
14 SOS2 NM_006939.4(SOS2):c.2304G>T (p.Gln768His) SNV Uncertain significance 565828 rs778281839 GRCh37: 14:50616806-50616806
GRCh38: 14:50150088-50150088
15 SOS2 NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) SNV Uncertain significance 567315 rs773672997 GRCh37: 14:50612303-50612303
GRCh38: 14:50145585-50145585
16 SOS2 NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) SNV Uncertain significance 570816 rs148747022 GRCh37: 14:50649318-50649318
GRCh38: 14:50182600-50182600
17 SOS2 NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) SNV Uncertain significance 373121 rs780580623 GRCh37: 14:50655255-50655255
GRCh38: 14:50188537-50188537
18 SOS2 NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) SNV Uncertain significance 573916 rs1566815476 GRCh37: 14:50587099-50587099
GRCh38: 14:50120381-50120381
19 SOS2 NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) SNV Uncertain significance 574513 rs1348457314 GRCh37: 14:50649259-50649259
GRCh38: 14:50182541-50182541
20 SOS2 NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) SNV Uncertain significance 579913 rs375478974 GRCh37: 14:50587079-50587079
GRCh38: 14:50120361-50120361
21 SOS2 NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) SNV Uncertain significance 280818 rs886041958 GRCh37: 14:50612256-50612256
GRCh38: 14:50145538-50145538
22 SOS2 NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) SNV Uncertain significance 580146 rs530007285 GRCh37: 14:50649200-50649200
GRCh38: 14:50182482-50182482
23 SOS2 NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) SNV Uncertain significance 580477 rs1566827698 GRCh37: 14:50616942-50616942
GRCh38: 14:50150224-50150224
24 SOS2 NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) SNV Uncertain significance 493142 rs1555370029 GRCh37: 14:50625356-50625356
GRCh38: 14:50158638-50158638
25 SOS2 NM_006939.4(SOS2):c.432G>A (p.Leu144=) SNV Uncertain significance 639276 rs1051166055 GRCh37: 14:50666487-50666487
GRCh38: 14:50199769-50199769
26 SOS2 NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) SNV Uncertain significance 639562 rs142863840 GRCh37: 14:50616744-50616744
GRCh38: 14:50150026-50150026
27 SOS2 NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 506639 rs561495878 GRCh37: 14:50611955-50611955
GRCh38: 14:50145237-50145237
28 SOS2 NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) SNV Uncertain significance 641799 rs1594973893 GRCh37: 14:50616889-50616889
GRCh38: 14:50150171-50150171
29 SOS2 NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) SNV Uncertain significance 642933 rs755783805 GRCh37: 14:50606687-50606687
GRCh38: 14:50139969-50139969
30 SOS2 NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) SNV Uncertain significance 645052 rs1409054252 GRCh37: 14:50597290-50597290
GRCh38: 14:50130572-50130572
31 overlap with 14 genes NC_000014.8:g.(?_50092240)_(50698021_?)dup Duplication Uncertain significance 645365 GRCh37: 14:50092240-50698021
GRCh38: 14:49625522-50231303
32 SOS2 NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu) SNV Uncertain significance 646429 rs1594951526 GRCh37: 14:50585501-50585501
GRCh38: 14:50118783-50118783
33 SOS2 NM_006939.4(SOS2):c.257C>T (p.Ala86Val) SNV Uncertain significance 647039 rs146272145 GRCh37: 14:50667759-50667759
GRCh38: 14:50201041-50201041
34 SOS2 NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) SNV Uncertain significance 651617 rs181275468 GRCh37: 14:50616849-50616849
GRCh38: 14:50150131-50150131
35 SOS2 NM_006939.4(SOS2):c.2606T>C (p.Val869Ala) SNV Uncertain significance 653106 rs750095346 GRCh37: 14:50611949-50611949
GRCh38: 14:50145231-50145231
36 SOS2 NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu) SNV Uncertain significance 653679 rs1442962879 GRCh37: 14:50597281-50597281
GRCh38: 14:50130563-50130563
37 SOS2 NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) SNV Uncertain significance 654884 rs777574895 GRCh37: 14:50667726-50667726
GRCh38: 14:50201008-50201008
38 SOS2 NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) SNV Uncertain significance 657987 rs761320331 GRCh37: 14:50600947-50600947
GRCh38: 14:50134229-50134229
39 SOS2 NM_006939.4(SOS2):c.2983A>G (p.Met995Val) SNV Uncertain significance 661524 rs933544183 GRCh37: 14:50600933-50600933
GRCh38: 14:50134215-50134215
40 SOS2 NM_006939.4(SOS2):c.496A>G (p.Met166Val) SNV Uncertain significance 448967 rs1555322175 GRCh37: 14:50666423-50666423
GRCh38: 14:50199705-50199705
41 SOS2 NM_006939.4(SOS2):c.1146A>G (p.Gln382=) SNV Uncertain significance 475739 rs1178247373 GRCh37: 14:50628250-50628250
GRCh38: 14:50161532-50161532
42 SOS2 NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) SNV Uncertain significance 475756 rs1555367637 GRCh37: 14:50585280-50585280
GRCh38: 14:50118562-50118562
43 SOS2 NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) SNV Uncertain significance 475744 rs761689009 GRCh37: 14:50616864-50616864
GRCh38: 14:50150146-50150146
44 SOS2 NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) SNV Uncertain significance 475742 rs768829374 GRCh37: 14:50619821-50619821
GRCh38: 14:50153103-50153103
45 SOS2 NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) SNV Uncertain significance 475749 rs772746106 GRCh37: 14:50605331-50605331
GRCh38: 14:50138613-50138613
46 SOS2 NM_006939.4(SOS2):c.2161+10A>G SNV Uncertain significance 488173 rs201629454 GRCh37: 14:50619778-50619778
GRCh38: 14:50153060-50153060
47 SOS2 NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) SNV Uncertain significance 520415 rs1555370121 GRCh37: 14:50626572-50626572
GRCh38: 14:50159854-50159854
48 SOS2 NM_006939.4(SOS2):c.3338-4A>G SNV Uncertain significance 542397 rs777684425 GRCh37: 14:50596724-50596724
GRCh38: 14:50130006-50130006
49 SOS2 NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) SNV Uncertain significance 421233 rs753151750 GRCh37: 14:50585477-50585477
GRCh38: 14:50118759-50118759
50 SOS2 NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) SNV Uncertain significance 542398 rs61755579 GRCh37: 14:50655307-50655307
GRCh38: 14:50188589-50188589

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

72
# Symbol AA change Variation ID SNP ID
1 SOS2 p.Met267Lys VAR_075686 rs797045167
2 SOS2 p.Thr376Ser VAR_075689 rs869320687

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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