NS7
MCID: NNN020
MIFTS: 35

Noonan Syndrome 7 (NS7)

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 7

Summaries for Noonan Syndrome 7

UniProtKB/Swiss-Prot : 76 Noonan syndrome 7: 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 6 and adrenocortical carcinoma, hereditary. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Vascular smooth muscle contraction and Development A2B receptor- action via G-protein alpha s. Affiliated tissues include skin and eye, and related phenotypes are scoliosis and pectus carinatum

Disease Ontology : 12 A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene.

OMIM : 58 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)

Related Diseases for Noonan Syndrome 7

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

Diseases related to Noonan Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome 6 10.1
2 adrenocortical carcinoma, hereditary 9.7 BRAF CREB1

Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 pectus carinatum 33 very rare (1%) HP:0000768
3 atrial septal defect 33 very rare (1%) HP:0001631
4 pulmonic stenosis 33 very rare (1%) HP:0001642
5 hyperpigmentation of the skin 33 very rare (1%) HP:0000953
6 hypertelorism 33 HP:0000316
7 low-set ears 33 HP:0000369
8 short neck 33 HP:0000470
9 intellectual disability 33 HP:0001249
10 dysphagia 33 HP:0002015
11 depressed nasal bridge 33 HP:0005280
12 short stature 33 HP:0004322
13 cognitive impairment 33 HP:0100543
14 prominent forehead 33 HP:0011220
15 dolichocephaly 33 HP:0000268
16 webbed neck 33 HP:0000465
17 thickened helices 33 HP:0000391
18 generalized hypotonia 33 HP:0001290
19 poor suck 33 HP:0002033
20 narrow forehead 33 HP:0000341

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
poor suck
poor swallowing

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

Head And Neck Head:
dolicocephaly

Chest External Features:
broad chest

Skeletal Hands:
small joint hyperextensibility

Head And Neck Ears:
low-set ears
thick helix

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

Head And Neck Face:
prominent forehead
bitemporal narrowing

Cardiovascular Heart:
congenital heart defects (in some patients)

Head And Neck Nose:
flat nasal bridge

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

GenomeRNAi Phenotypes related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability ratio GR00368-A 9.02 BRAF CREB1 CTTNBP2 PAH PLA2G12A

Drugs & Therapeutics for Noonan Syndrome 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison Between a Non-elastic Falcro Device and Current Method After Total Knee Arthroplasty Completed NCT02375945 Phase 4

Search 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 30 BRAF

Anatomical Context for Noonan Syndrome 7

MalaCards organs/tissues related to Noonan Syndrome 7:

42
Skin, Eye

Publications for Noonan Syndrome 7

Articles related to Noonan Syndrome 7:

# Title Authors Year
1
Nucleolin interacts with the feline calicivirus 3' untranslated region and the protease-polymerase NS6 and NS7 proteins, playing a role in virus replication. ( 21680514 )
2011
2
Noonan syndrome: clinical features, diagnosis, and management guidelines. ( 20876176 )
2010
3
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. ( 19206169 )
2009

Variations for Noonan Syndrome 7

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

76
# Symbol AA change Variation ID SNP ID
1 BRAF p.Leu597Val VAR_018627 rs121913369
2 BRAF p.Trp531Cys VAR_058627 rs606231228

ClinVar genetic disease variations for Noonan Syndrome 7:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.5(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic rs121913369 GRCh37 Chromosome 7, 140453146: 140453146
2 BRAF NM_004333.5(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic rs121913369 GRCh38 Chromosome 7, 140753346: 140753346
3 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh37 Chromosome 7, 140477807: 140477807
4 BRAF NM_004333.4(BRAF): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic/Likely pathogenic rs180177038 GRCh38 Chromosome 7, 140778007: 140778007
5 BRAF NM_004333.5(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177042 GRCh37 Chromosome 7, 140449165: 140449165
6 BRAF NM_004333.5(BRAF): c.1914T> A (p.Asp638Glu) single nucleotide variant Pathogenic/Likely pathogenic rs180177042 GRCh38 Chromosome 7, 140749365: 140749365
7 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
8 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
9 BRAF NM_004333.4(BRAF): c.722C> G (p.Thr241Arg) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
10 BRAF NM_004333.4(BRAF): c.722C> G (p.Thr241Arg) single nucleotide variant Pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
11 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
12 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
13 BRAF NM_004333.5(BRAF): c.1593G> C (p.Trp531Cys) single nucleotide variant Pathogenic rs606231228 GRCh38 Chromosome 7, 140777013: 140777013
14 BRAF NM_004333.5(BRAF): c.1593G> C (p.Trp531Cys) single nucleotide variant Pathogenic rs606231228 GRCh37 Chromosome 7, 140476813: 140476813
15 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
16 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh38 Chromosome 7, 140801537: 140801537
17 BRAF NM_004333.5(BRAF): c.1237G> A (p.Val413Met) single nucleotide variant Uncertain significance rs377093637 GRCh37 Chromosome 7, 140482898: 140482898
18 BRAF NM_004333.5(BRAF): c.1237G> A (p.Val413Met) single nucleotide variant Uncertain significance rs377093637 GRCh38 Chromosome 7, 140783098: 140783098
19 BRAF NM_004333.4(BRAF): c.1743T> A (p.Asn581Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516895 GRCh37 Chromosome 7, 140453192: 140453192
20 BRAF NM_004333.4(BRAF): c.1743T> A (p.Asn581Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516895 GRCh38 Chromosome 7, 140753392: 140753392
21 BRAF NM_004333.5(BRAF): c.1166G> A (p.Arg389His) single nucleotide variant Uncertain significance rs577372072 GRCh37 Chromosome 7, 140487359: 140487359
22 BRAF NM_004333.5(BRAF): c.1166G> A (p.Arg389His) single nucleotide variant Uncertain significance rs577372072 GRCh38 Chromosome 7, 140787559: 140787559
23 BRAF NM_004333.5(BRAF): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs557241012 GRCh37 Chromosome 7, 140534476: 140534476
24 BRAF NM_004333.5(BRAF): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs557241012 GRCh38 Chromosome 7, 140834676: 140834676
25 BRAF NM_004333.5(BRAF): c.1940A> G (p.Tyr647Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 140449139: 140449139
26 BRAF NM_004333.5(BRAF): c.1940A> G (p.Tyr647Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 140749339: 140749339
27 BRAF NM_004333.5(BRAF): c.1387A> G (p.Ile463Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 140781621: 140781621
28 BRAF NM_004333.5(BRAF): c.1387A> G (p.Ile463Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 140481421: 140481421

Expression for Noonan Syndrome 7

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

Pathways for Noonan Syndrome 7

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 visual learning GO:0008542 8.96 BRAF CREB1
2 cellular response to nerve growth factor stimulus GO:1990090 8.62 BRAF CREB1

Sources for Noonan Syndrome 7

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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