NS7
MCID: NNN020
MIFTS: 37

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 : 73 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 exocervical carcinoma and pulmonary valve stenosis. An important gene associated with Noonan Syndrome 7 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include heart and skin, and related phenotypes are scoliosis and macrocephaly

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the BRAF gene.

OMIM : 56 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

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:

31 (showing 44, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 macrocephaly 31 very rare (1%) HP:0000256
3 hypertelorism 31 very rare (1%) HP:0000316
4 low-set ears 31 very rare (1%) HP:0000369
5 pectus excavatum 31 very rare (1%) HP:0000767
6 hyperhidrosis 31 very rare (1%) HP:0000975
7 intellectual disability 31 very rare (1%) HP:0001249
8 seizures 31 very rare (1%) HP:0001250
9 depressed nasal bridge 31 very rare (1%) HP:0005280
10 pectus carinatum 31 very rare (1%) HP:0000768
11 thick vermilion border 31 very rare (1%) HP:0012471
12 short stature 31 very rare (1%) HP:0004322
13 downslanted palpebral fissures 31 very rare (1%) HP:0000494
14 prominent forehead 31 very rare (1%) HP:0011220
15 narrow forehead 31 very rare (1%) HP:0000341
16 generalized hypotonia 31 very rare (1%) HP:0001290
17 strabismus 31 very rare (1%) HP:0000486
18 cubitus valgus 31 very rare (1%) HP:0002967
19 webbed neck 31 very rare (1%) HP:0000465
20 shield chest 31 very rare (1%) HP:0000914
21 low posterior hairline 31 very rare (1%) HP:0002162
22 atrial septal defect 31 very rare (1%) HP:0001631
23 poor suck 31 very rare (1%) HP:0002033
24 joint hypermobility 31 very rare (1%) HP:0001382
25 pulmonic stenosis 31 very rare (1%) HP:0001642
26 abnormality of the chin 31 very rare (1%) HP:0000306
27 curly hair 31 very rare (1%) HP:0002212
28 thickened helices 31 very rare (1%) HP:0000391
29 large earlobe 31 very rare (1%) HP:0009748
30 large for gestational age 31 very rare (1%) HP:0001520
31 deep palmar crease 31 very rare (1%) HP:0006191
32 hyperpigmentation of the skin 31 very rare (1%) HP:0000953
33 abnormal esophagus morphology 31 very rare (1%) HP:0002031
34 impaired oropharyngeal swallow response 31 very rare (1%) HP:0031162
35 nasogastric tube feeding in infancy 31 very rare (1%) HP:0011470
36 numerous nevi 31 very rare (1%) HP:0001054
37 palpebral thickening 31 very rare (1%) HP:0030939
38 lentigo maligna melanoma 31 very rare (1%) HP:0012059
39 short neck 31 HP:0000470
40 muscular hypotonia 31 HP:0001252
41 dysphagia 31 HP:0002015
42 feeding difficulties in infancy 31 HP:0008872
43 cognitive impairment 31 HP:0100543
44 dolichocephaly 31 HP:0000268

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Head And Neck Face:
prominent forehead
bitemporal narrowing

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)

Abdomen Gastrointestinal:
feeding difficulties
poor suck
poor swallowing

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:

26 (showing 25, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.81 BRAF EIF4E
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.81 EIF4G1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.81 GADD45G
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.81 GADD45G
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.81 EIF4G1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.81 EIF4E
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.81 BRAF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.81 BRAF EIF4E EIF4G1 GADD45G
9 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.81 EIF4E
10 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.81 EIF4E
11 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.81 GADD45G
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.81 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.81 EIF4G1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.81 EIF4E EIF4G1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.81 BRAF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.81 GADD45G
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.81 GADD45G
18 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.81 GADD45G
19 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 BRAF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.81 BRAF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.81 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.81 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.81 EIF4E EIF4G1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.81 GADD45G
25 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.81 EIF4G1

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 29 BRAF

Anatomical Context for Noonan Syndrome 7

MalaCards organs/tissues related to Noonan Syndrome 7:

40
Heart, Skin

Publications for Noonan Syndrome 7

Articles related to Noonan Syndrome 7:

(showing 5, show less)
# Title Authors PMID Year
1
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 6 56
19206169 2009
2
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
3
Noonan syndrome: clinical features, diagnosis, and management guidelines. 6
20876176 2010
4
Leopard syndrome. 6
18505544 2008
5
Noonan Syndrome 6
20301303 2001

Variations for Noonan Syndrome 7

ClinVar genetic disease variations for Noonan Syndrome 7:

6 (showing 14, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346
2 BRAF NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)SNV Pathogenic 29806 rs387906660 7:140501350-140501350 7:140801550-140801550
3 BRAF NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)SNV Pathogenic 29808 rs606231228 7:140476813-140476813 7:140777013-140777013
4 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)SNV Pathogenic 40347 rs397507466 7:140501337-140501337 7:140801537-140801537
5 BRAF NC_000007.14:g.140777014C>Gundetermined variant Pathogenic 666569
6 BRAF NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)SNV Pathogenic/Likely pathogenic 29807 rs387906661 7:140501351-140501351 7:140801551-140801551
7 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)SNV Pathogenic/Likely pathogenic 13981 rs180177042 7:140449165-140449165 7:140749365-140749365
8 BRAF NM_004333.6(BRAF):c.722C>T (p.Thr241Met)SNV Pathogenic/Likely pathogenic 29805 rs387906660 7:140501350-140501350 7:140801550-140801550
9 BRAF NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)SNV Pathogenic/Likely pathogenic 44811 rs397516895 7:140453192-140453192 7:140753392-140753392
10 BRAF NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)SNV Likely pathogenic 587514 rs1562957000 7:140481421-140481421 7:140781621-140781621
11 BRAF NM_004333.6(BRAF):c.1237G>A (p.Val413Met)SNV Uncertain significance 44799 rs377093637 7:140482898-140482898 7:140783098-140783098
12 BRAF NM_004333.6(BRAF):c.1166G>A (p.Arg389His)SNV Uncertain significance 372627 rs577372072 7:140487359-140487359 7:140787559-140787559
13 BRAF NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)SNV Uncertain significance 372564 rs557241012 7:140534476-140534476 7:140834676-140834676
14 BRAF NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)SNV Uncertain significance 561797 rs1562939198 7:140449139-140449139 7:140749339-140749339

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

73 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 BRAF p.Leu597Val VAR_018627 rs121913369
2 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

GO Terms for Noonan Syndrome 7

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 SCN5A PLA2G6 PLA2G12A ITPA GADD45G EIF4G1
2 eukaryotic translation initiation factor 4F complex GO:0016281 8.62 EIF4G1 EIF4E

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 behavioral fear response GO:0001662 9.16 EIF4G1 EIF4E
2 phosphatidylcholine acyl-chain remodeling GO:0036151 8.96 PLA2G6 PLA2G12A
3 phosphatidylethanolamine acyl-chain remodeling GO:0036152 8.62 PLA2G6 PLA2G12A

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 9.16 PLA2G6 PLA2G12A
2 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 8.96 PLA2G6 PLA2G12A
3 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 8.62 PLA2G6 PLA2G12A

Sources for Noonan Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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