NS7
MCID: NNN020
MIFTS: 29

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 : 75 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 noonan syndrome 1. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skin, heart and eye, and related phenotypes are hypertelorism and low-set ears

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

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)

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 noonan syndrome 1 9.7 BRAF CTTNBP2

Symptoms & Phenotypes for Noonan Syndrome 7

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Noonan Syndrome 7:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 intellectual disability 32 HP:0001249
5 dysphagia 32 HP:0002015
6 scoliosis 32 occasional (7.5%) HP:0002650
7 depressed nasal bridge 32 HP:0005280
8 pectus carinatum 32 very rare (1%) HP:0000768
9 short stature 32 HP:0004322
10 cognitive impairment 32 HP:0100543
11 prominent forehead 32 HP:0011220
12 dolichocephaly 32 HP:0000268
13 webbed neck 32 HP:0000465
14 atrial septal defect 32 very rare (1%) HP:0001631
15 pulmonic stenosis 32 very rare (1%) HP:0001642
16 thickened helices 32 HP:0000391
17 generalized hypotonia 32 HP:0001290
18 poor suck 32 HP:0002033
19 hyperpigmentation of the skin 32 very rare (1%) HP:0000953
20 narrow forehead 32 HP:0000341

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 29 BRAF

Anatomical Context for Noonan Syndrome 7

MalaCards organs/tissues related to Noonan Syndrome 7:

41
Skin, Heart, 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

Variations for Noonan Syndrome 7

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

75
# 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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1789C> G (p.Leu597Val) single nucleotide variant Pathogenic rs121913369 GRCh37 Chromosome 7, 140453146: 140453146
2 BRAF NM_004333.4(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.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
6 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
7 BRAF NM_004333.4(BRAF): c.722C> G (p.Thr241Arg) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
8 BRAF NM_004333.4(BRAF): c.722C> G (p.Thr241Arg) single nucleotide variant Pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
9 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
10 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
11 BRAF NM_004333.4(BRAF): c.1593G> C (p.Trp531Cys) single nucleotide variant Pathogenic rs606231228 GRCh38 Chromosome 7, 140777013: 140777013
12 BRAF NM_004333.4(BRAF): c.1593G> C (p.Trp531Cys) single nucleotide variant Pathogenic rs606231228 GRCh37 Chromosome 7, 140476813: 140476813
13 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
14 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh38 Chromosome 7, 140801537: 140801537

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

Cellular components related to Noonan Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 8.62 BACE1 CTTNBP2

Sources for Noonan Syndrome 7

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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