NFNS
MCID: NRF008
MIFTS: 31

Neurofibromatosis-Noonan Syndrome (NFNS) malady

Neuronal diseases category

Summaries for Neurofibromatosis-Noonan Syndrome

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46OMIM, 32MalaCards
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MalaCards: Neurofibromatosis-Noonan Syndrome, also known as noonan neurofibromatosis syndrome, is related to neurofibromatosis and noonan syndrome. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (neurofibromin 1), and among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and pilocytic astrocytoma. The compounds methionine and rapamycin have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:46 601321

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

neurofibromatosis-noonan syndrome 42 46 44 60
noonan neurofibromatosis syndrome 42 20 22
neurofibromatosis with noonan phenotype 42
nfns 42


External Ids:

ICD1025 Q85.0

Related Diseases for Neurofibromatosis-Noonan Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Neurofibromatosis-Noonan Syndrome:



Diseases related to neurofibromatosis-noonan syndrome

Clinical Features for Neurofibromatosis-Noonan Syndrome

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46OMIM
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Clinical features from OMIM:

601321

Clinical synopsis from OMIM:

601321

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Neurofibromatosis-Noonan Syndrome

Drug clinical trials:

Search ClinicalTrials for Neurofibromatosis-Noonan Syndrome

Search NIH Clinical Center for Neurofibromatosis-Noonan Syndrome

Search CenterWatch for Neurofibromatosis-Noonan Syndrome

Genetic Tests for Neurofibromatosis-Noonan Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Neurofibromatosis-Noonan Syndrome:

id Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome20 22 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

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Animal Models for Neurofibromatosis-Noonan Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1PTPN11, NF1
2MP:00011868.8PTPN11, NF1

Publications for Neurofibromatosis-Noonan Syndrome

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Genetic Variations for Neurofibromatosis-Noonan Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Neurofibromatosis-Noonan Syndrome:

62
id Symbol AA change Variation ID SNP ID
1NF1p.Lys1444GluVAR_002659rs137854550
2NF1p.Leu194ArgVAR_032462rs199474753
3NF1p.Asn1451ThrVAR_032475rs199474754
4NF1p.Val1453LeuVAR_032476rs199474755
5NF1p.Leu1411PheVAR_065236rs199474789

Expression for genes affiliated with Neurofibromatosis-Noonan Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurofibromatosis-Noonan Syndrome

Search GEO for disease gene expression data for Neurofibromatosis-Noonan Syndrome.

Pathways for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Sources:
12EMD Millipore, 37NCBI BioSystems Database
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Pathways related to Neurofibromatosis-Noonan Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1PTPN11, NF1
29.1PTPN11, NF1

Compounds for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank
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Compounds related to Neurofibromatosis-Noonan Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methionine449.2PTPN11, NF1
2rapamycin449.1PTPN11, NF1
3oligonucleotide449.1PTPN11, NF1
4forskolin44 49 1111.0NF1, PTPN11
5lysine448.8PTPN11, NF1

GO Terms for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Sources:
16Gene Ontology
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Biological processes related to Neurofibromatosis-Noonan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brain developmentGO:0074209.1PTPN11, NF1
2heart developmentGO:0075078.8PTPN11, NF1

Products for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Sources for Neurofibromatosis-Noonan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet