MCID: NNN013
MIFTS: 26

Noonan Syndrome 6

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal 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, is also known as ns6. An important gene associated with Noonan Syndrome 6 is NRAS (NRAS Proto-Oncogene, GTPase). The drugs Menthol and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, and related phenotypes are cryptorchidism and macrocephaly

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

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
curly hair
sparse hair

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

Head And Neck Face:
high forehead

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

Chest External Features:
thorax deformity


Clinical features from OMIM:

613224

Human phenotypes related to Noonan Syndrome 6:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 obligate (100%) HP:0000028
2 macrocephaly 32 very rare (1%) HP:0000256
3 hypertelorism 32 obligate (100%) HP:0000316
4 low-set ears 32 obligate (100%) HP:0000369
5 webbed neck 32 obligate (100%) HP:0000465
6 myopia 32 very rare (1%) HP:0000545
7 delayed speech and language development 32 very rare (1%) HP:0000750
8 hyperkeratosis 32 obligate (100%) HP:0000962
9 intellectual disability, mild 32 very rare (1%) HP:0001256
10 generalized hypotonia 32 obligate (100%) HP:0001290
11 asymmetry of the thorax 32 obligate (100%) HP:0001555
12 hypertrophic cardiomyopathy 32 very rare (1%) HP:0001639
13 pulmonic stenosis 32 very rare (1%) HP:0001642
14 curly hair 32 obligate (100%) HP:0002212
15 short stature 32 obligate (100%) HP:0004322

Drugs & Therapeutics for Noonan Syndrome 6

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666
2
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
3 Antifungal Agents Not Applicable
4 Anti-Infective Agents Not Applicable
5 Antiparasitic Agents Not Applicable
6 Antiprotozoal Agents Not Applicable
7 Ionophores Not Applicable
8 monensin 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

Publications for Noonan Syndrome 6

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

Expression for Noonan Syndrome 6

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

Pathways for Noonan Syndrome 6

GO Terms for Noonan Syndrome 6

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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