MCID: NNN009
MIFTS: 26

Noonan Syndrome 2

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Noonan Syndrome 2

MalaCards integrated aliases for Noonan Syndrome 2:

Name: Noonan Syndrome 2 57 12 53 29 73
Ns2 57 12 53
Noonan Syndrome 2, Autosomal Recessive 57
Noonan Syndrome, Autosomal Recessive 57
Autosomal Recessive Noonan Syndrome 53
Noonan Syndrome Autosomal Recessive 53

Classifications:



External Ids:

OMIM 57 605275
Disease Ontology 12 DOID:0060580
ICD10 33 Q87.1
UMLS 73 C1854469

Summaries for Noonan Syndrome 2

OMIM : 57 Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by van der Burgt and Brunner, 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (605275)

MalaCards based summary : Noonan Syndrome 2, also known as ns2, is related to influenza and hepatitis c virus. An important gene associated with Noonan Syndrome 2 is NS2 (Noonan Syndrome 2). The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include heart.

Disease Ontology : 12 A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has material basis in an autosomal recessive inheritance.

Related Diseases for Noonan Syndrome 2

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

# Related Disease Score Top Affiliating Genes
1 influenza 10.4
2 hepatitis c virus 10.3
3 hepatitis 10.3
4 hepatitis c 10.3
5 pneumonia 10.0
6 hemorrhagic disease 9.8
7 aleutian mink disease 9.8
8 type i 9.8
9 noonan syndrome 1 9.7
10 pseudo-turner syndrome 9.7

Graphical network of the top 20 diseases related to Noonan Syndrome 2:



Diseases related to Noonan Syndrome 2

Symptoms & Phenotypes for Noonan Syndrome 2

Clinical features from OMIM:

605275

Drugs & Therapeutics for Noonan Syndrome 2

Drugs for Noonan Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
3
Ethanol Approved Phase 2 64-17-5 702
4 Antiemetics Phase 2
5 Anti-Inflammatory Agents Phase 2
6 Antineoplastic Agents, Hormonal Phase 2
7 Autonomic Agents Phase 2
8 Gastrointestinal Agents Phase 2
9 glucocorticoids Phase 2
10 Hormone Antagonists Phase 2
11 Hormones Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
13 Methylprednisolone acetate Phase 2
14 Methylprednisolone Hemisuccinate Phase 2
15 Neuroprotective Agents Phase 2
16 Ophthalmic Solutions Phase 2
17 Peripheral Nervous System Agents Phase 2
18 Pharmaceutical Solutions Phase 2
19 Prednisolone acetate Phase 2
20 Prednisolone hemisuccinate Phase 2
21 Prednisolone phosphate Phase 2
22 Protective Agents Phase 2
23 Tetrahydrozoline Phase 2
24 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Short Term Effectiveness Study of Juxta-Fit Versus Trico Bandages in the Treatment of Leg Lymphedema Completed NCT01068431 Phase 4
2 A Safety and Efficacy Study of NS2 in Patients With Anterior Uveitis Completed NCT02406209 Phase 2 NS2;Prednisolone acetate ophthalmic suspension (1%)
3 A Safety and Activity Study of NS2 in Subjects With Allergic Conjunctivitis Completed NCT02578914 Phase 2 NS2 Ophthalmic Drops (0.5%);NS2 Ophthalmic Drops Vehicle (0.0%)
4 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
5 Evaluating the Infectivity, Safety, and Immunogenicity of a Single Dose of a Recombinant Live-Attenuated Respiratory Syncytial Virus Vaccine (D46/NS2/N/ΔM2-2-HindIII) in RSV-Seronegative Infants 6 to 24 Months of Age Completed NCT03102034 Phase 1
6 Evaluating the Infectivity, Safety, and Immunogenicity of a Respiratory Syncytial Virus Vaccine (RSV 6120/∆NS2/1030s) in RSV-Seropositive Children and RSV-Seronegative Infants and Children Recruiting NCT03387137 Phase 1
7 Infectivity, Safety and Immunogenicity of a Recombinant Live-Attenuated Respiratory Syncytial Virus Vaccine (D46/NS2/N/ΔM2-2-HindIII) in RSV-Seronegative Infants and Children 6 to 24 Months of Age Recruiting NCT03099291 Phase 1
8 Effect of Coccinia Cordifolia Extract on Blood Sugar of Newly Diagnosed Diabetics Completed NCT00502008 Not Applicable Coccinia Cordifolia (herbal extract)
9 Study of Human Epidermal Growth Receptor (HER2) Status Evaluation in Breast Cancer Pathology Samples Completed NCT02580799

Search NIH Clinical Center for Noonan Syndrome 2

Genetic Tests for Noonan Syndrome 2

Genetic tests related to Noonan Syndrome 2:

# Genetic test Affiliating Genes
1 Noonan Syndrome 2 29

Anatomical Context for Noonan Syndrome 2

MalaCards organs/tissues related to Noonan Syndrome 2:

41
Heart

Publications for Noonan Syndrome 2

Articles related to Noonan Syndrome 2:

# Title Authors Year
1
Orofacial aspects in Noonan syndrome: 2 case report. ( 18505655 )
2008

Variations for Noonan Syndrome 2

Expression for Noonan Syndrome 2

Search GEO for disease gene expression data for Noonan Syndrome 2.

Pathways for Noonan Syndrome 2

GO Terms for Noonan Syndrome 2

Sources for Noonan Syndrome 2

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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