NFNS
MCID: NRF008
MIFTS: 31

Neurofibromatosis-Noonan Syndrome (NFNS) malady

Neuronal category

Summaries for Neurofibromatosis-Noonan Syndrome

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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. Affiliated tissues include thyroid, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:47 601321

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 61UMLS, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

neurofibromatosis-noonan syndrome 43 47 45 61
noonan neurofibromatosis syndrome 43 20 22
neurofibromatosis with noonan phenotype 43
nfns 43


External Ids:

ICD1025 Q85.0

Related Diseases for Neurofibromatosis-Noonan Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Neurofibromatosis-Noonan Syndrome:



Diseases related to neurofibromatosis-noonan syndrome

Clinical Features for Neurofibromatosis-Noonan Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601321

Clinical synopsis from OMIM:

601321

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Neurofibromatosis-Noonan Syndrome:

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

Anatomical Context for Neurofibromatosis-Noonan Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

33
Thyroid

Animal Models for Neurofibromatosis-Noonan Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1PTPN11, NF1
2MP:00011868.8PTPN11, NF1

Publications for Neurofibromatosis-Noonan Syndrome

Sources:
51PubMed
See all sources

Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 32)
idTitleAuthorsYear
1
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome. (24357598)
2013
2
Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. (22847776)
2012
3
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. (22965773)
2012
4
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome. (22664660)
2012
5
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. (21549079)
2011
6
Lethal presentation of neurofibromatosis and Noonan syndrome. (21567923)
2011
7
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (19449407)
2009
8
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. (19845691)
2009
9
Neurofibromatosis 1/Noonan syndrome associated with Hashimoto's thyroiditis and vitiligo. (16586003)
2006
10
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. (17103458)
2006
11
Diffuse-type tenosynovial giant cell tumor in association with neurofibromatosis type 1-Noonan syndrome: possibly more than a chance relationship. (16723851)
2006
12
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (16380919)
2005
13
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (15948193)
2005
14
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
15
Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). (12707950)
2003
16
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. (11013475)
2000
17
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. (10206464)
1999
18
Neurofibromatosis-Noonan syndrome. (9475594)
1998
19
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. (9475595)
1998
20
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (8985499)
1996
21
Noonan syndrome with cafAc-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. (7586657)
1995
22
Neurofibromatosis-Noonan syndrome. (7501563)
1995
23
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. (8362913)
1993
24
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. (8135279)
1993
25
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. (8317503)
1993
26
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? (1348094)
1992
27
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. (1348095)
1992
28
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. (2518512)
1989
29
Vertical transmission of the neurofibromatosis/Noonan syndrome. (3105315)
1987
30
Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. (3105316)
1987
31
The neurofibromatosis-Noonan syndrome. (3927725)
1985
32
The neurofibromatosis-Noonan syndrome. (3927726)
1985

Genetic Variations for Neurofibromatosis-Noonan Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Neurofibromatosis-Noonan Syndrome:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1methionine459.2PTPN11, NF1
2rapamycin459.1PTPN11, NF1
3oligonucleotide459.1PTPN11, NF1
4forskolin45 50 1111.0NF1, PTPN11
5lysine458.8PTPN11, NF1

GO Terms for genes affiliated with Neurofibromatosis-Noonan Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurofibromatosis-Noonan Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet