NS6
MCID: NNN013
MIFTS: 39

Noonan Syndrome 6 (NS6)

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 6

Summaries for Noonan Syndrome 6

UniProtKB/Swiss-Prot : 75 Noonan syndrome 6: 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 6, also known as ns6, is related to noonan syndrome 7 and noonan syndrome 4. An important gene associated with Noonan Syndrome 6 is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Human cytomegalovirus infection and Epstein-Barr virus infection. The drugs Miconazole and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13.

Description from OMIM: 613224

Related Diseases for Noonan Syndrome 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome 7 10.1
2 noonan syndrome 4 9.8 CTTNBP2 ITPA
3 viral infectious disease 9.8 MAVS TBK1
4 noonan syndrome 3 9.6 ITPA MAVS TBK1
5 noonan syndrome 1 9.5 CTTNBP2 MAVS NRAS TBK1

Graphical network of the top 20 diseases related to Noonan Syndrome 6:



Diseases related to Noonan Syndrome 6

Symptoms & Phenotypes for Noonan Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Growth Height:
short stature

Skin Nails Hair Skin:
hyperkeratosis
lentigines
keratosis pilaris
cafe-au-lait spots

Head And Neck Neck:
webbed neck
nuchal edema

Neurologic Central Nervous System:
motor delay
hypotonia
learning difficulties (in some patients)
developmental delay (in some patients)

Head And Neck Face:
high forehead

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Hematology:
juvenile myelomonocytic leukemia (in 1 patient)

Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in 1 patient)

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Cardiovascular Heart:
hypertrophic cardiomyopathy
pulmonic stenosis
supraventricular extrasystoles

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
myopia
downslanting palpebral fissures
epicanthal folds
long eyebrows

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
curly hair
sparse hair

Chest External Features:
thorax deformity


Clinical features from OMIM:

613224

Human phenotypes related to Noonan Syndrome 6:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) HP:0000256
2 hypertelorism 32 obligate (100%) HP:0000316
3 low-set ears 32 obligate (100%) HP:0000369
4 global developmental delay 32 very rare (1%) HP:0001263
5 depressed nasal bridge 32 HP:0005280
6 wide nasal bridge 32 HP:0000431
7 delayed speech and language development 32 very rare (1%) HP:0000750
8 sensorineural hearing impairment 32 HP:0000407
9 short stature 32 obligate (100%) HP:0004322
10 intellectual disability, mild 32 very rare (1%) HP:0001256
11 hypertrophic cardiomyopathy 32 very rare (1%) HP:0001639
12 hyperkeratosis 32 obligate (100%) HP:0000962
13 edema 32 HP:0000969
14 epicanthus 32 HP:0000286
15 cryptorchidism 32 obligate (100%) HP:0000028
16 webbed neck 32 obligate (100%) HP:0000465
17 myopia 32 very rare (1%) HP:0000545
18 motor delay 32 HP:0001270
19 downslanted palpebral fissures 32 HP:0000494
20 pulmonic stenosis 32 very rare (1%) HP:0001642
21 curly hair 32 obligate (100%) HP:0002212
22 sparse hair 32 HP:0008070
23 generalized hypotonia 32 obligate (100%) HP:0001290
24 asymmetry of the thorax 32 obligate (100%) HP:0001555
25 cafe-au-lait spot 32 HP:0000957
26 long eyebrows 32 HP:0004523

GenomeRNAi Phenotypes related to Noonan Syndrome 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.02 CTTNBP2 ITPA MAVS NRAS TBK1

MGI Mouse Phenotypes related to Noonan Syndrome 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 ITPA MAVS NRAS TBK1
2 integument MP:0010771 8.92 ITPA MAVS NRAS TBK1

Drugs & Therapeutics for Noonan Syndrome 6

Drugs for Noonan Syndrome 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
2 Anti-Infective Agents Not Applicable
3 Antiprotozoal Agents Not Applicable
4 monensin Not Applicable
5 Ionophores Not Applicable
6 Antiparasitic Agents Not Applicable
7 Antifungal Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Trial to Monitor Interface Pressure in Relation to Volume Change in Leg Lymphoedema Completed NCT01828606 Not Applicable

Search NIH Clinical Center for Noonan Syndrome 6

Genetic Tests for Noonan Syndrome 6

Genetic tests related to Noonan Syndrome 6:

# Genetic test Affiliating Genes
1 Noonan Syndrome 6 29 NRAS

Anatomical Context for Noonan Syndrome 6

MalaCards organs/tissues related to Noonan Syndrome 6:

41
Skin, Heart, Eye

Publications for Noonan Syndrome 6

Articles related to Noonan Syndrome 6:

# Title Authors Year
1
Porcine Deltacoronavirus Accessory Protein NS6 Antagonizes Interferon Beta Production by Interfering with the Binding of RIG-I/MDA5 to Double-Stranded RNA. ( 29769346 )
2018
2
Identification and subcellular localization of porcine deltacoronavirus accessory protein NS6. ( 27661736 )
2016
3
Structure determination of Murine Norovirus NS6 proteases with C-terminal extensions designed to probe protease-substrate interactions. ( 25755927 )
2015
4
Structure of a murine norovirus NS6 protease-product complex revealed by adventitious crystallisation. ( 22685603 )
2012
5
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 6

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 6:

75
# Symbol AA change Variation ID SNP ID
1 NRAS p.Thr50Ile VAR_063085 rs267606921
2 NRAS p.Gly60Glu VAR_063086 rs267606920

ClinVar genetic disease variations for Noonan Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
2 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh38 Chromosome 1, 114716123: 114716123
3 NRAS NM_002524.4(NRAS): c.149C> T (p.Thr50Ile) single nucleotide variant Pathogenic rs267606921 GRCh37 Chromosome 1, 115256562: 115256562
4 NRAS NM_002524.4(NRAS): c.149C> T (p.Thr50Ile) single nucleotide variant Pathogenic rs267606921 GRCh38 Chromosome 1, 114713941: 114713941
5 NRAS NM_002524.4(NRAS): c.179G> A (p.Gly60Glu) single nucleotide variant Pathogenic rs267606920 GRCh37 Chromosome 1, 115256532: 115256532
6 NRAS NM_002524.4(NRAS): c.179G> A (p.Gly60Glu) single nucleotide variant Pathogenic rs267606920 GRCh38 Chromosome 1, 114713911: 114713911
7 NRAS NM_002524.4(NRAS): c.317C> T (p.Ser106Leu) single nucleotide variant Uncertain significance rs797045795 GRCh37 Chromosome 1, 115252323: 115252323
8 NRAS NM_002524.4(NRAS): c.317C> T (p.Ser106Leu) single nucleotide variant Uncertain significance rs797045795 GRCh38 Chromosome 1, 114709702: 114709702

Expression for Noonan Syndrome 6

Search GEO for disease gene expression data for Noonan Syndrome 6.

Pathways for Noonan Syndrome 6

Pathways related to Noonan Syndrome 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 MAVS NRAS TBK1
2 11.56 MAVS TBK1
3 10.92 MAVS NRAS TBK1
4 10.77 NRAS TBK1

GO Terms for Noonan Syndrome 6

Biological processes related to Noonan Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.37 MAVS TBK1
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.32 MAVS TBK1
3 negative regulation of type I interferon production GO:0032480 9.26 MAVS TBK1
4 positive regulation of interferon-beta production GO:0032728 9.16 MAVS TBK1
5 activation of innate immune response GO:0002218 8.96 MAVS TBK1
6 positive regulation of interferon-alpha production GO:0032727 8.62 MAVS TBK1

Sources for Noonan Syndrome 6

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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