MCID: NRF008
MIFTS: 54

Neurofibromatosis-Noonan Syndrome malady

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

Summaries for Neurofibromatosis-Noonan Syndrome

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MalaCards based summary: Neurofibromatosis-Noonan Syndrome, also known as noonan neurofibromatosis syndrome, is related to neurofibromatosis and leopard syndrome, and has symptoms including hypertelorism, low-set, posteriorly rotated ears and webbed neck. 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:47 601321

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 62UMLS, 22GeneTests, 24GTR, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Neurofibromatosis-Noonan Syndrome, Aliases & Descriptions:

Name: Neurofibromatosis-Noonan Syndrome 47 11 43 45 49 62
Noonan Neurofibromatosis Syndrome 43 22 24
Neurofibromatosis Type 1-Noonan Syndrome 43 49
 
Neurofibromatosis with Noonan Phenotype 43 62
Nfns 43 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
neurofibromatosis-noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 601321
Orphanet49 638
UMLS via Orphanet63 C0553586, C2931482
MESH via Orphanet36 C537393, D009456

Related Diseases for Neurofibromatosis-Noonan Syndrome

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Graphical network of diseases related to Neurofibromatosis-Noonan Syndrome:



Diseases related to neurofibromatosis-noonan syndrome

Symptoms for Neurofibromatosis-Noonan Syndrome

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Symptoms by clinical synopsis from OMIM:

601321

Clinical features from OMIM:

601321

Symptoms:

 49 (show all 18)
  • face/facial anomalies
  • 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
  • pulmonary valve atresia/stenosis/narrowing
  • cardiomyopathy/hypertrophic/dilated
  • 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

HPO human phenotypes related to Neurofibromatosis-Noonan Syndrome:

(show all 49)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
3 webbed neck hallmark (90%) HP:0000465
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 ptosis hallmark (90%) HP:0000508
6 cafe-au-lait spot hallmark (90%) HP:0000957
7 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
8 abnormality of the pulmonary valve hallmark (90%) HP:0001641
9 short stature hallmark (90%) HP:0004322
10 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
11 abnormality of the helix hallmark (90%) HP:0011039
12 cognitive impairment hallmark (90%) HP:0100543
13 cryptorchidism typical (50%) HP:0000028
14 abnormality of the thorax typical (50%) HP:0000765
15 abnormality of coagulation typical (50%) HP:0001928
16 feeding difficulties in infancy typical (50%) HP:0008872
17 abnormality of the lymphatic system typical (50%) HP:0100763
18 autosomal dominant inheritance HP:0000006
19 cryptorchidism HP:0000028
20 macrocephaly HP:0000256
21 malar flattening HP:0000272
22 epicanthus HP:0000286
23 hypertelorism HP:0000316
24 posteriorly rotated ears HP:0000358
25 low-set ears HP:0000369
26 webbed neck HP:0000465
27 short neck HP:0000470
28 downslanted palpebral fissures HP:0000494
29 ptosis HP:0000508
30 delayed speech and language development HP:0000750
31 pectus excavatum of inferior sternum HP:0000915
32 superior pectus carinatum HP:0000917
33 cafe-au-lait spot HP:0000957
34 axillary freckling HP:0000997
35 neurofibromas HP:0001067
36 global developmental delay HP:0001263
37 muscle weakness HP:0001324
38 specific learning disability HP:0001328
39 pulmonic stenosis HP:0001642
40 secundum atrial septal defect HP:0001684
41 low posterior hairline HP:0002162
42 scoliosis HP:0002650
43 cubitus valgus HP:0002967
44 short stature HP:0004322
45 prominent nasolabial fold HP:0005272
46 optic glioma HP:0009734
47 lisch nodules HP:0009737
48 midface retrusion HP:0011800
49 inguinal freckling HP:0030052

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

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Drug clinical trials:

Search ClinicalTrials for Neurofibromatosis-Noonan Syndrome

Search NIH Clinical Center for Neurofibromatosis-Noonan Syndrome

Genetic Tests for Neurofibromatosis-Noonan Syndrome

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Genetic tests related to Neurofibromatosis-Noonan Syndrome:

id Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome22 24 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

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MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

33
Testes, Skin

Animal Models for Neurofibromatosis-Noonan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

37
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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Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 18)
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
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (16380919)
2005
6
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (15948193)
2005
7
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
8
Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). (12707950)
2003
9
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. (11013475)
2000
10
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. (10206464)
1999
11
Neurofibromatosis-Noonan syndrome. (9475594)
1998
12
Neurofibromatosis-Noonan syndrome. (7501563)
1995
13
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. (8135279)
1993
14
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? (1348094)
1992
15
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. (2518512)
1989
16
Vertical transmission of the neurofibromatosis/Noonan syndrome. (3105315)
1987
17
The neurofibromatosis-Noonan syndrome. (3927725)
1985
18
The neurofibromatosis-Noonan syndrome. (3927726)
1985

Variations for Neurofibromatosis-Noonan Syndrome

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

64
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:

7
id Gene Variation 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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Search GEO for disease gene expression data for Neurofibromatosis-Noonan Syndrome.

Pathways for genes affiliated with Neurofibromatosis-Noonan Syndrome

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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 Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.1MAP2K2, PTPN11
3
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
9.1PTPN11, MAP2K2
49.1MAP2K2, PTPN11
59.1MAP2K2, PTPN11
6
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
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 pathway38
TCR Signaling Pathway38
9.1PTPN11, MAP2K2
13
Show member pathways
9.1PTPN11, MAP2K2
14
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
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 PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1PTPN11, MAP2K2
19
Show member pathways
Immune response CD16 signaling in NK cells60
9.1MAP2K2, PTPN11
20
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
9.1MAP2K2, PTPN11
21
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
9.1MAP2K2, PTPN11
22
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.1PTPN11, MAP2K2
23
Show member pathways
IL-2 Signaling pathway38
9.1MAP2K2, PTPN11
24
Show member pathways
9.1PTPN11, MAP2K2
25
Show member pathways
9.1PTPN11, MAP2K2
26
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
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 Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
9.1PTPN11, MAP2K2
369.1MAP2K2, PTPN11
37
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.1PTPN11, MAP2K2
38
Show member pathways
Immune response IL 3 activation and signaling pathway60
9.1MAP2K2, PTPN11
39
Show member pathways
Development Flt3 signaling60
9.1MAP2K2, PTPN11
40
Show member pathways
MAPK signaling pathway38
9.0NF1, MAP2K2
41
Show member pathways
G protein signaling M RAS regulation pathway60
9.0MAP2K2, NF1
429.0NF1, MAP2K2
43
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.0MAP2K2, NF1
44
Show member pathways
Signaling Pathways in Glioblastoma38
9.0NF1, MAP2K2
45
Show member pathways
8.5NF1, MAP2K2, PTPN11

Compounds for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1methionine459.3NF1, PTPN11
2rapamycin459.2NF1, PTPN11
3phosphoinositide459.1MAP2K2, PTPN11
4wortmannin458.8MAP2K2, PTPN11
5phosphatidylinositol458.7NF1, MAP2K2, PTPN11
6serine458.6NF1, MAP2K2, PTPN11
7tyrosine458.6PTPN11, MAP2K2, NF1

GO Terms for genes affiliated with Neurofibromatosis-Noonan Syndrome

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:00075079.5NF1, PTPN11
2brain developmentGO:00074209.4NF1, PTPN11
3activation of MAPK activityGO:00001879.3PTPN11, MAP2K2
4insulin receptor signaling pathwayGO:00082869.3MAP2K2, PTPN11
5MAPK cascadeGO:00001659.3NF1, MAP2K2
6Ras protein signal transductionGO:00072659.3NF1, MAP2K2
7fibroblast growth factor receptor signaling pathwayGO:00085439.2PTPN11, MAP2K2
8Fc-epsilon receptor signaling pathwayGO:00380959.1MAP2K2, PTPN11
9axon guidanceGO:00074119.1MAP2K2, PTPN11
10epidermal growth factor receptor signaling pathwayGO:00071739.0PTPN11, MAP2K2
11neurotrophin TRK receptor signaling pathwayGO:00480118.8MAP2K2, PTPN11

Products for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Sources for Neurofibromatosis-Noonan Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet