NFNS
MCID: NRF008
MIFTS: 52

Neurofibromatosis-Noonan Syndrome (NFNS) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases, Neuronal diseases categories

Summaries for Neurofibromatosis-Noonan Syndrome

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48OMIM, 34MalaCards
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MalaCards: Neurofibromatosis-Noonan Syndrome, also known as noonan neurofibromatosis syndrome, is related to neurofibromatosis and noonan syndrome, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, short stature/dwarfism/nanism and anomalies of chest/thorax/trunk. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (neurofibromin 1), and among its related pathways are pilocytic astrocytoma and IL-9 Signaling Pathways. The compounds methionine and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Description from OMIM:48 601321

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

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44NIH Rare Diseases, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 21GeneTests, 23GTR, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
neurofibromatosis-noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neurofibromatosis-noonan syndrome 44 48 46 50 63
noonan neurofibromatosis syndrome 44 21 23
nfns 44 50
neurofibromatosis type 1-noonan syndrome 50
neurofibromatosis with noonan phenotype 44


External Ids:

OMIM48 601321
MESH via Orphanet37 C537393, D009456
SNOMED-CT via Orphanet60 403820003
UMLS via Orphanet64 C0553586, C2931482
ICD1026 Q85.0

Related Diseases for Neurofibromatosis-Noonan Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Neurofibromatosis-Noonan Syndrome:



Diseases related to neurofibromatosis-noonan syndrome

Symptoms for Neurofibromatosis-Noonan Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

601321

Clinical features from OMIM:

601321

Symptoms:

50 (show all 18)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • anomalies of chest/thorax/trunk
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • anomalies of the lymphatic system
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • cardiomyopathy/hypertrophic/dilated
  • pulmonary valve atresia/stenosis/narrowing
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • ptosis
  • low set ears/posteriorly rotated ears
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • webbed neck/pterygium colli
  • absent/hypotonic/flaccid abdominal wall muscles
  • cafe-au-lait spot
  • face/facial anomalies

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Neurofibromatosis-Noonan Syndrome:

id Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome21 23 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

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34MalaCards
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MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

34
Testes, Skin

Animal Models for Neurofibromatosis-Noonan Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3NF1, PTPN11
2MP:00053778.7NF1, MAP2K2, PTPN11
3MP:00020068.7NF1, MAP2K2, PTPN11
4MP:00053828.7PTPN11, MAP2K2, NF1
5MP:00053918.6NF1, MAP2K2, PTPN11
6MP:00053798.6PTPN11, MAP2K2, NF1
7MP:00053908.5NF1, MAP2K2, PTPN11
8MP:00107718.4PTPN11, MAP2K2, NF1
9MP:00028738.2NF1, MAP2K2, PTPN11

Publications for Neurofibromatosis-Noonan Syndrome

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Sources:
53PubMed
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Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 17)
idTitleAuthorsYear
1
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome. (24357598)
2013
2
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. (22965773)
2012
3
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. (21549079)
2011
4
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (19449407)
2009
5
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (15948193)
2005
6
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
7
Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). (12707950)
2003
8
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. (11013475)
2000
9
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. (10206464)
1999
10
Neurofibromatosis-Noonan syndrome. (9475594)
1998
11
Neurofibromatosis-Noonan syndrome. (7501563)
1995
12
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. (8135279)
1993
13
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? (1348094)
1992
14
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. (2518512)
1989
15
Vertical transmission of the neurofibromatosis/Noonan syndrome. (3105315)
1987
16
The neurofibromatosis-Noonan syndrome. (3927725)
1985
17
The neurofibromatosis-Noonan syndrome. (3927726)
1985

Variations for Neurofibromatosis-Noonan Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis-Noonan Syndrome:

65
id Symbol AA change Variation ID SNP ID
1NF1p.Lys1444GluVAR_002659rs137854550
2NF1p.Leu194ArgVAR_032462rs199474753
3NF1p.Asn1451ThrVAR_032475rs199474754
4NF1p.Val1453LeuVAR_032476rs199474755
5NF1p.Leu1411PheVAR_065236rs199474789

Clinvar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NF1NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe)single nucleotide variantPathogenicrs199474789GRCh37Chr 17, 29585419: 29585419
2NF1NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del)deletionPathogenicrs267606606GRCh37Chr 17, 29556972: 29556974
3NF1NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del)deletionPathogenicrs267606607GRCh37Chr 17, 29586092: 29586094
4NF1NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs)insertionPathogenicrs267606608GRCh37Chr 17, 29576122: 29576123
5NF1NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met)indelPathogenicrs267606609GRCh37Chr 17, 29527496: 29527497

Expression for genes affiliated with Neurofibromatosis-Noonan Syndrome

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 55R&D Systems, 61Thomson Reuters, 54QIAGEN, 31KEGG, 56Reactome, 5Cell Signaling Technology
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Pathways related to Neurofibromatosis-Noonan Syndrome according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NF1, PTPN11
2
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
9.1MAP2K2, PTPN11
3
Show member pathways
Apoptosis and survival BAD phosphorylation61
Development Alpha 2 adrenergic receptor activation of ERK61
Chemotaxis CXCR4 signaling pathway61
9.1PTPN11, MAP2K2
49.1MAP2K2, PTPN11
59.1MAP2K2, PTPN11
6
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.1PTPN11, MAP2K2
7
Show member pathways
9.1MAP2K2, PTPN11
8
Show member pathways
9.1PTPN11, MAP2K2
9
Show member pathways
9.1MAP2K2, PTPN11
109.1MAP2K2, PTPN11
119.1MAP2K2, PTPN11
12
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.1PTPN11, MAP2K2
13
Show member pathways
9.1PTPN11, MAP2K2
14
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.1MAP2K2, PTPN11
15
Show member pathways
9.1MAP2K2, PTPN11
16
Show member pathways
9.1MAP2K2, PTPN11
179.1PTPN11, MAP2K2
18
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.1PTPN11, MAP2K2
19
Show member pathways
Immune response CD16 signaling in NK cells61
9.1MAP2K2, PTPN11
20
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.1MAP2K2, PTPN11
21
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
9.1MAP2K2, PTPN11
22
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.1PTPN11, MAP2K2
23
Show member pathways
IL-2 Signaling pathway39
9.1MAP2K2, PTPN11
24
Show member pathways
9.1PTPN11, MAP2K2
25
Show member pathways
9.1PTPN11, MAP2K2
26
Show member pathways
EPO Receptor Signaling39
EPO signaling pathway39
9.1PTPN11, MAP2K2
279.1MAP2K2, PTPN11
289.1MAP2K2, PTPN11
29
Show member pathways
9.1MAP2K2, PTPN11
309.1PTPN11, MAP2K2
319.1MAP2K2, PTPN11
329.1PTPN11, MAP2K2
339.1PTPN11, MAP2K2
34
Show member pathways
9.1PTPN11, MAP2K2
35
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
9.1PTPN11, MAP2K2
369.1MAP2K2, PTPN11
37
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
9.1PTPN11, MAP2K2
38
Show member pathways
Immune response IL 3 activation and signaling pathway61
9.1MAP2K2, PTPN11
39
Show member pathways
Development Flt3 signaling61
9.1MAP2K2, PTPN11
40
Show member pathways
MAPK signaling pathway39
9.0NF1, MAP2K2
41
Show member pathways
G protein signaling M RAS regulation pathway61
9.0MAP2K2, NF1
429.0NF1, MAP2K2
43
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
9.0MAP2K2, NF1
44
Show member pathways
Signaling Pathways in Glioblastoma39
9.0NF1, MAP2K2
45
Show member pathways
8.5NF1, MAP2K2, PTPN11

Compounds for genes affiliated with Neurofibromatosis-Noonan Syndrome

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46Novoseek
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Compounds related to Neurofibromatosis-Noonan Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methionine469.3NF1, PTPN11
2rapamycin469.2NF1, PTPN11
3phosphoinositide469.1MAP2K2, PTPN11
4wortmannin468.8MAP2K2, PTPN11
5phosphatidylinositol468.7NF1, MAP2K2, PTPN11
6serine468.6NF1, MAP2K2, PTPN11
7tyrosine468.6PTPN11, MAP2K2, NF1

GO Terms for genes affiliated with Neurofibromatosis-Noonan Syndrome

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17Gene Ontology
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Biological processes related to Neurofibromatosis-Noonan Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:0075079.5NF1, PTPN11
2brain developmentGO:0074209.4NF1, PTPN11
3activation of MAPK activityGO:0001879.3PTPN11, MAP2K2
4insulin receptor signaling pathwayGO:0082869.3MAP2K2, PTPN11
5MAPK cascadeGO:0001659.3NF1, MAP2K2
6Ras protein signal transductionGO:0072659.3NF1, MAP2K2
7fibroblast growth factor receptor signaling pathwayGO:0085439.2PTPN11, MAP2K2
8Fc-epsilon receptor signaling pathwayGO:0380959.1MAP2K2, PTPN11
9axon guidanceGO:0074119.1MAP2K2, PTPN11
10epidermal growth factor receptor signaling pathwayGO:0071739.0PTPN11, MAP2K2
11neurotrophin TRK receptor signaling pathwayGO:0480118.8MAP2K2, PTPN11

Products for genes affiliated with Neurofibromatosis-Noonan Syndrome

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  • Antibodies
  • Proteins
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Sources for Neurofibromatosis-Noonan Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet