NS7
MCID: NNN020
MIFTS: 38

Noonan Syndrome 7 (NS7)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Noonan Syndrome 7

Summaries for Noonan Syndrome 7

UniProtKB/Swiss-Prot: 73 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 7, also known as ns7, is related to noonan syndrome and noonan-related syndrome and pseudo-turner syndrome. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are MAP Kinase Signaling and Signaling by MRAS-complex mutants. Affiliated tissues include heart, skin and skeletal muscle, and related phenotypes are macrocephaly and intellectual disability

OMIM®: 57 Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009). (613706) (Updated 08-Dec-2022)

Disease Ontology: 11 A Noonan syndrome that has material basis in heterozygous mutation in the BRAF gene.

Related Diseases for Noonan Syndrome 7

Graphical network of the top 20 diseases related to Noonan Syndrome 7:



Diseases related to Noonan Syndrome 7

Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 Very rare (1%) HP:0000256
2 intellectual disability 30 Very rare (1%) HP:0001249
3 seizure 30 Very rare (1%) HP:0001250
4 scoliosis 30 Very rare (1%) HP:0002650
5 hyperhidrosis 30 Very rare (1%) HP:0000975
6 short neck 30 Very rare (1%) HP:0000470
7 depressed nasal bridge 30 Very rare (1%) HP:0005280
8 hypertelorism 30 Very rare (1%) HP:0000316
9 thick vermilion border 30 Very rare (1%) HP:0012471
10 short stature 30 Very rare (1%) HP:0004322
11 prominent forehead 30 Very rare (1%) HP:0011220
12 strabismus 30 Very rare (1%) HP:0000486
13 cubitus valgus 30 Very rare (1%) HP:0002967
14 low-set ears 30 Very rare (1%) HP:0000369
15 webbed neck 30 Very rare (1%) HP:0000465
16 shield chest 30 Very rare (1%) HP:0000914
17 low posterior hairline 30 Very rare (1%) HP:0002162
18 pectus excavatum 30 Very rare (1%) HP:0000767
19 atrial septal defect 30 Very rare (1%) HP:0001631
20 joint hypermobility 30 Very rare (1%) HP:0001382
21 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
22 pulmonic stenosis 30 Very rare (1%) HP:0001642
23 large earlobe 30 Very rare (1%) HP:0009748
24 thickened helices 30 Very rare (1%) HP:0000391
25 large for gestational age 30 Very rare (1%) HP:0001520
26 deep palmar crease 30 Very rare (1%) HP:0006191
27 nasogastric tube feeding in infancy 30 Very rare (1%) HP:0011470
28 poor suck 30 Very rare (1%) HP:0002033
29 generalized hypotonia 30 Very rare (1%) HP:0001290
30 impaired oropharyngeal swallow response 30 Very rare (1%) HP:0031162
31 curly hair 30 Very rare (1%) HP:0002212
32 narrow forehead 30 Very rare (1%) HP:0000341
33 numerous nevi 30 Very rare (1%) HP:0001054
34 abnormal esophagus morphology 30 Very rare (1%) HP:0002031
35 abnormality of the chin 30 Very rare (1%) HP:0000306
36 palpebral thickening 30 Very rare (1%) HP:0030939
37 lentigo maligna melanoma 30 Very rare (1%) HP:0012059
38 dysphagia 30 HP:0002015
39 hypotonia 30 HP:0001252
40 pectus carinatum 30 HP:0000768
41 feeding difficulties in infancy 30 HP:0008872
42 cognitive impairment 30 HP:0100543
43 dolichocephaly 30 HP:0000268

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck
webbed neck

Head And Neck Eyes:
hypertelorism

Growth Height:
short stature

Head And Neck Ears:
low-set ears
thick helix

Abdomen Gastrointestinal:
feeding difficulties
poor suck
poor swallowing

Head And Neck Nose:
flat nasal bridge

Chest External Features:
broad chest

Skeletal Hands:
small joint hyperextensibility

Neurologic Central Nervous System:
hypotonia
cognitive deficits, mild to moderate

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus carinatum (in some patients)

Head And Neck Face:
prominent forehead
bitemporal narrowing

Head And Neck Head:
dolichocephaly

Cardiovascular Heart:
congenital heart defects (in some patients)

Skeletal Spine:
scoliosis (in some patients)

Growth Other:
neonatal growth failure

Skin Nails Hair Skin:
hyperpigmented cutaneous lesions (in some patients)

Clinical features from OMIM®:

613706 (Updated 08-Dec-2022)

Drugs & Therapeutics for Noonan Syndrome 7

Search Clinical Trials, NIH Clinical Center for Noonan Syndrome 7

Genetic Tests for Noonan Syndrome 7

Genetic tests related to Noonan Syndrome 7:

# Genetic test Affiliating Genes
1 Noonan Syndrome 7 28 BRAF

Anatomical Context for Noonan Syndrome 7

Organs/tissues related to Noonan Syndrome 7:

MalaCards : Heart, Skin, Skeletal Muscle, Brain
ODiseA: Brain, Skeletal Muscle, Heart-Atrium, Heart-Ventricle, Heart, Skin

Publications for Noonan Syndrome 7

Articles related to Noonan Syndrome 7:

# Title Authors PMID Year
1
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 57 5
19206169 2009
2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 5
16474404 2006

Variations for Noonan Syndrome 7

ClinVar genetic disease variations for Noonan Syndrome 7:

5 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRAF NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser) SNV Pathogenic
666569 rs397507478 GRCh37: 7:140476814-140476814
GRCh38: 7:140777014-140777014
2 BRAF NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) SNV Pathogenic
222077 rs869025340 GRCh37: 7:140476832-140476832
GRCh38: 7:140777032-140777032
3 BRAF NM_004333.6(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic
Pathogenic/Likely Pathogenic
29805 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
4 BRAF NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) SNV Pathogenic
29806 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
5 BRAF NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) SNV Pathogenic
29808 rs606231228 GRCh37: 7:140476813-140476813
GRCh38: 7:140777013-140777013
6 BRAF NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic
Pathogenic
Not Provided
29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
7 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) SNV Pathogenic
13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346
8 BRAF NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) SNV Pathogenic
Pathogenic
13973 rs180177035 GRCh37: 7:140501302-140501302
GRCh38: 7:140801502-140801502
9 BRAF NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) SNV Pathogenic
13974 rs121913355 GRCh37: 7:140481402-140481402
GRCh38: 7:140781602-140781602
10 BRAF NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) SNV Pathogenic
180784 rs397516903 GRCh37: 7:140501333-140501333
GRCh38: 7:140801533-140801533
11 BRAF NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) SNV Likely Pathogenic
162795 rs727502904 GRCh37: 7:140434563-140434563
GRCh38: 7:140734763-140734763
12 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) SNV Likely Pathogenic
40347 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
13 BRAF NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) SNV Likely Pathogenic
587514 rs1562957000 GRCh37: 7:140481421-140481421
GRCh38: 7:140781621-140781621
14 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) SNV Likely Pathogenic
13981 rs180177042 GRCh37: 7:140449165-140449165
GRCh38: 7:140749365-140749365
15 BRAF NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) SNV Likely Pathogenic
44811 rs397516895 GRCh37: 7:140453192-140453192
GRCh38: 7:140753392-140753392
16 BRAF NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) SNV Uncertain Significance
561797 rs1562939198 GRCh37: 7:140449139-140449139
GRCh38: 7:140749339-140749339
17 BRAF NM_004333.6(BRAF):c.1237G>A (p.Val413Met) SNV Uncertain Significance
Uncertain Significance
44799 rs377093637 GRCh37: 7:140482898-140482898
GRCh38: 7:140783098-140783098
18 BRAF NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) SNV Uncertain Significance
372564 rs557241012 GRCh37: 7:140534476-140534476
GRCh38: 7:140834676-140834676
19 BRAF NM_004333.6(BRAF):c.*3C>T SNV Uncertain Significance
359043 rs746680490 GRCh37: 7:140434394-140434394
GRCh38: 7:140734594-140734594
20 BRAF NM_004333.6(BRAF):c.1694+14G>A SNV Uncertain Significance
44809 rs184144181 GRCh37: 7:140476698-140476698
GRCh38: 7:140776898-140776898
21 BRAF NM_004333.6(BRAF):c.*7T>C SNV Uncertain Significance
162794 rs727502903 GRCh37: 7:140434390-140434390
GRCh38: 7:140734590-140734590
22 BRAF NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) SNV Uncertain Significance
359048 rs201481342 GRCh37: 7:140494224-140494224
GRCh38: 7:140794424-140794424
23 BRAF NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) SNV Uncertain Significance
543985 rs1554400237 GRCh37: 7:140482945-140482945
GRCh38: 7:140783145-140783145
24 BRAF NM_004333.6(BRAF):c.1699T>G (p.Leu567Val) SNV Uncertain Significance
945231 GRCh37: 7:140454029-140454029
GRCh38: 7:140754229-140754229
25 BRAF NM_004333.6(BRAF):c.981-14C>A SNV Uncertain Significance
359049 rs200002171 GRCh37: 7:140494281-140494281
GRCh38: 7:140794481-140794481
26 BRAF NM_004333.6(BRAF):c.708C>T (p.Asn236=) SNV Uncertain Significance
44827 rs138333692 GRCh37: 7:140507763-140507763
GRCh38: 7:140807963-140807963
27 BRAF NM_004333.6(BRAF):c.1068A>G (p.Gln356=) SNV Uncertain Significance
44788 rs143335467 GRCh37: 7:140494180-140494180
GRCh38: 7:140794380-140794380
28 BRAF NM_004333.6(BRAF):c.1166G>A (p.Arg389His) SNV Uncertain Significance
372627 rs577372072 GRCh37: 7:140487359-140487359
GRCh38: 7:140787559-140787559
29 BRAF NM_004333.6(BRAF):c.1714A>G (p.Ile572Val) SNV Uncertain Significance
1699096 GRCh37: 7:140454014-140454014
GRCh38: 7:140754214-140754214
30 BRAF NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys) SNV Uncertain Significance
429447 rs1131691387 GRCh37: 7:140534659-140534659
GRCh38: 7:140834859-140834859
31 BRAF NM_004333.6(BRAF):c.66C>G (p.Asp22Glu) SNV Uncertain Significance
1710942 GRCh37: 7:140624438-140624438
GRCh38: 7:140924638-140924638
32 BRAF NM_004333.6(BRAF):c.1858A>G (p.Met620Val) SNV Uncertain Significance
1691521 GRCh37: 7:140453077-140453077
GRCh38: 7:140753277-140753277
33 BRAF NM_004333.6(BRAF):c.1332G>A (p.Arg444=) SNV Uncertain Significance
40362 rs56101602 GRCh37: 7:140481476-140481476
GRCh38: 7:140781676-140781676
34 BRAF NM_004333.6(BRAF):c.2196C>G (p.Ser732=) SNV Uncertain Significance
417227 rs142592480 GRCh37: 7:140434502-140434502
GRCh38: 7:140734702-140734702
35 BRAF NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) SNV Uncertain Significance
40335 rs397507456 GRCh37: 7:140624440-140624440
GRCh38: 7:140924640-140924640
36 BRAF NM_004333.6(BRAF):c.1023A>G (p.Pro341=) SNV Uncertain Significance
512959 rs56092510 GRCh37: 7:140494225-140494225
GRCh38: 7:140794425-140794425
37 BRAF NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) SNV Uncertain Significance
910577 rs1398817791 GRCh37: 7:140494192-140494192
GRCh38: 7:140794392-140794392
38 BRAF NM_004333.6(BRAF):c.-56C>T SNV Uncertain Significance
910632 rs867823794 GRCh37: 7:140624559-140624559
GRCh38: 7:140924759-140924759
39 BRAF NM_004333.6(BRAF):c.-12C>T SNV Uncertain Significance
910631 rs1390547132 GRCh37: 7:140624515-140624515
GRCh38: 7:140924715-140924715
40 BRAF NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu) SNV Uncertain Significance
910576 rs151308995 GRCh37: 7:140494182-140494182
GRCh38: 7:140794382-140794382
41 BRAF NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) SNV Uncertain Significance
910575 rs923739321 GRCh37: 7:140482955-140482955
GRCh38: 7:140783155-140783155
42 BRAF NM_004333.6(BRAF):c.*124G>C SNV Uncertain Significance
910515 rs1317771158 GRCh37: 7:140434273-140434273
GRCh38: 7:140734473-140734473
43 BRAF NM_004333.6(BRAF):c.*143A>G SNV Uncertain Significance
910514 rs1585929994 GRCh37: 7:140434254-140434254
GRCh38: 7:140734454-140734454
44 BRAF NM_004333.6(BRAF):c.*203A>G SNV Uncertain Significance
910513 rs1796208696 GRCh37: 7:140434194-140434194
GRCh38: 7:140734394-140734394
45 BRAF NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) SNV Uncertain Significance
133720 rs587778114 GRCh37: 7:140624432-140624432
GRCh38: 7:140924632-140924632
46 BRAF NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) SNV Uncertain Significance
505121 rs749247588 GRCh37: 7:140534597-140534597
GRCh38: 7:140834797-140834797
47 BRAF NM_004333.6(BRAF):c.1569A>G (p.Pro523=) SNV Uncertain Significance
909644 rs759843625 GRCh37: 7:140476837-140476837
GRCh38: 7:140777037-140777037
48 BRAF NM_004333.6(BRAF):c.*216T>C SNV Uncertain Significance
909590 rs184804021 GRCh37: 7:140434181-140434181
GRCh38: 7:140734381-140734381
49 BRAF NM_004333.6(BRAF):c.469G>A (p.Val157Ile) SNV Uncertain Significance
503529 rs1258111302 GRCh37: 7:140534444-140534444
GRCh38: 7:140834644-140834644
50 BRAF NM_004333.6(BRAF):c.563G>C (p.Arg188Thr) SNV Uncertain Significance
908852 rs1803936771 GRCh37: 7:140508737-140508737
GRCh38: 7:140808937-140808937

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 7:

73
# Symbol AA change Variation ID SNP ID
1 BRAF p.Leu597Val VAR_018627 rs121913369
2 BRAF p.Thr241Met VAR_058620 rs387906660
3 BRAF p.Thr241Arg VAR_058622 rs387906660
4 BRAF p.Trp531Cys VAR_058627 rs606231228

Expression for Noonan Syndrome 7

Search GEO for disease gene expression data for Noonan Syndrome 7.

Pathways for Noonan Syndrome 7

Pathways related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 SHOC2 BRAF
2
Show member pathways
10 SHOC2 BRAF

GO Terms for Noonan Syndrome 7

Biological processes related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 JNK cascade GO:0007254 9.26 SH2D3C SH2D3A
2 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.1 SH2D3C SH2D3A BRAF

Molecular functions related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotyrosine residue binding GO:0001784 8.92 SH2D3C SH2D3A

Sources for Noonan Syndrome 7

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....