MCID: NRF008
MIFTS: 46

Neurofibromatosis-Noonan Syndrome malady

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

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 49 11 45 47 51 65 67
Nfns 45 22 51 67
Noonan Neurofibromatosis Syndrome 45 22 24
 
Neurofibromatosis Type 1-Noonan Syndrome 51
Neurofibromatosis with Noonan Phenotype 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
neurofibromatosis-noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 601321
Orphanet51 638
MESH via Orphanet37 C537393, D009456
UMLS via Orphanet66 C0553586, C2931482
MedGen34 C2931482

Summaries for Neurofibromatosis-Noonan Syndrome

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UniProtKB/Swiss-Prot:67 Neurofibromatosis-Noonan syndrome: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.

MalaCards based summary: Neurofibromatosis-Noonan Syndrome, also known as nfns, is related to noonan syndrome 1 and neurofibromatosis, 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 BDNF signaling pathway. Affiliated tissues include testes and skin, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

Description from OMIM:49 601321

Related Diseases for Neurofibromatosis-Noonan Syndrome

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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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Symptoms by clinical synopsis from OMIM:

601321

Clinical features from OMIM:

601321

Symptoms:

 51 (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 50)
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 depressed nasal bridge HP:0005280
47 optic glioma HP:0009734
48 lisch nodules HP:0009737
49 hypoplasia of midface HP:0011800
50 inguinal freckling HP:0030052

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8MAP2K2, NF1, PTPN11
2MP:00053778.7MAP2K2, NF1, PTPN11
3MP:00053828.7MAP2K2, NF1, PTPN11
4MP:00028738.7MAP2K2, NF1, PTPN11
5MP:00053918.5MAP2K2, NF1, PTPN11
6MP:00053798.5MAP2K2, NF1, PTPN11
7MP:00107718.4MAP2K2, NF1, PTPN11
8MP:00020068.2MAP2K2, NF1, 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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NF1NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe)single nucleotide variantLikely pathogenic, Pathogenicrs199474789GRCh37Chr 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 Suite gene sharing:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NF1, PTPN11
29.1MAP2K2, PTPN11
3
Show member pathways
9.1MAP2K2, PTPN11
4
Show member pathways
9.1MAP2K2, PTPN11
5
Show member pathways
9.1MAP2K2, PTPN11
6
B Cell Receptor Signaling Pathway (WikiPathways)
Show member pathways
9.1MAP2K2, PTPN11
7
Show member pathways
9.1MAP2K2, PTPN11
8
Show member pathways
9.1MAP2K2, PTPN11
99.1MAP2K2, PTPN11
109.1MAP2K2, PTPN11
11
Show member pathways
9.1MAP2K2, PTPN11
129.1MAP2K2, PTPN11
139.1MAP2K2, PTPN11
14
Show member pathways
9.1MAP2K2, PTPN11
159.1MAP2K2, PTPN11
169.1MAP2K2, PTPN11
179.1MAP2K2, PTPN11
189.1MAP2K2, PTPN11
19
Show member pathways
9.1MAP2K2, PTPN11
209.1MAP2K2, PTPN11
21
Show member pathways
9.1MAP2K2, PTPN11
229.0MAP2K2, NF1
23
Show member pathways
9.0MAP2K2, NF1
24
Show member pathways
8.5MAP2K2, NF1, PTPN11
25
Show member pathways
8.5MAP2K2, NF1, PTPN11
26
Show member pathways
8.5MAP2K2, NF1, PTPN11

GO Terms for genes affiliated with Neurofibromatosis-Noonan Syndrome

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Biological processes related to Neurofibromatosis-Noonan Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:00075079.5NF1, PTPN11
2activation of MAPK activityGO:00001879.5MAP2K2, PTPN11
3brain developmentGO:00074209.4NF1, PTPN11
4MAPK cascadeGO:00001659.4MAP2K2, NF1
5activation of MAPKK activityGO:00001869.4MAP2K2, NF1
6Ras protein signal transductionGO:00072659.4MAP2K2, NF1
7vascular endothelial growth factor receptor signaling pathwayGO:00480109.0MAP2K2, NF1
8insulin receptor signaling pathwayGO:00082868.8MAP2K2, NF1, PTPN11
9fibroblast growth factor receptor signaling pathwayGO:00085438.8MAP2K2, NF1, PTPN11
10Fc-epsilon receptor signaling pathwayGO:00380958.8MAP2K2, NF1, PTPN11
11neurotrophin TRK receptor signaling pathwayGO:00480118.7MAP2K2, NF1, PTPN11
12epidermal growth factor receptor signaling pathwayGO:00071738.5MAP2K2, NF1, PTPN11
13axon guidanceGO:00074118.4MAP2K2, NF1, PTPN11
14innate immune responseGO:00450878.2MAP2K2, NF1, PTPN11

Sources for Neurofibromatosis-Noonan Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet