NS7
MCID: NNN020
MIFTS: 34

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 : 74 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 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 Development A2B receptor- action via G-protein alpha s and Parathyroid hormone synthesis, secretion and action. 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 : 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 Noonan Syndrome 11

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

# Related Disease Score Top Affiliating Genes
1 adrenocortical carcinoma, hereditary 9.3 CREB1 BRAF

Symptoms & Phenotypes for Noonan Syndrome 7

Human phenotypes related to Noonan Syndrome 7:

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

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

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

26
# 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

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:

41
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. 8 71
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). 71
25173338 2014
3
Noonan syndrome: clinical features, diagnosis, and management guidelines. 71
20876176 2010
4
Leopard syndrome. 71
18505544 2008
5
Noonan Syndrome 71
20301303 2001

Variations for Noonan Syndrome 7

ClinVar genetic disease variations for Noonan Syndrome 7:

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

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

74
# 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

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 CREB1 BRAF
2 cellular response to nerve growth factor stimulus GO:1990090 8.62 CREB1 BRAF

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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