MCID: NRF008
MIFTS: 48

Neurofibromatosis-Noonan Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases, Neuronal diseases

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Neurofibromatosis-Noonan Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
neurofibromatosis-noonan syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601321
Orphanet51 638
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537393, D009456
UMLS via Orphanet66 C0553586, C2931482
MedGen34 C2931482
UMLS65 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 neurofibromatosis and noonan syndrome 1, and has symptoms including cognitive impairment, abnormality of the helix and aplasia/hypoplasia of the abdominal wall musculature. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (Neurofibromin 1), and among its related pathways are pilocytic astrocytoma and Chronic myeloid leukemia. Affiliated tissues include testes, skin and smooth muscle, and related mouse phenotypes are tumorigenesis and integument.

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 49)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormality of the helix hallmark (90%) HP:0011039
3 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
4 short stature hallmark (90%) HP:0004322
5 abnormality of the pulmonary valve hallmark (90%) HP:0001641
6 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
7 cafe-au-lait spot hallmark (90%) HP:0000957
8 ptosis hallmark (90%) HP:0000508
9 downslanted palpebral fissures hallmark (90%) HP:0000494
10 webbed neck hallmark (90%) HP:0000465
11 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
12 hypertelorism hallmark (90%) HP:0000316
13 abnormality of the lymphatic system typical (50%) HP:0100763
14 feeding difficulties in infancy typical (50%) HP:0008872
15 abnormality of coagulation typical (50%) HP:0001928
16 abnormality of the thorax typical (50%) HP:0000765
17 cryptorchidism typical (50%) HP:0000028
18 inguinal freckling HP:0030052
19 midface retrusion HP:0011800
20 lisch nodules HP:0009737
21 optic glioma HP:0009734
22 depressed nasal bridge HP:0005280
23 prominent nasolabial fold HP:0005272
24 short stature HP:0004322
25 cubitus valgus HP:0002967
26 scoliosis HP:0002650
27 low posterior hairline HP:0002162
28 secundum atrial septal defect HP:0001684
29 pulmonic stenosis HP:0001642
30 specific learning disability HP:0001328
31 muscle weakness HP:0001324
32 global developmental delay HP:0001263
33 neurofibromas HP:0001067
34 axillary freckling HP:0000997
35 cafe-au-lait spot HP:0000957
36 superior pectus carinatum HP:0000917
37 pectus excavatum of inferior sternum HP:0000915
38 delayed speech and language development HP:0000750
39 ptosis HP:0000508
40 downslanted palpebral fissures HP:0000494
41 short neck HP:0000470
42 webbed neck HP:0000465
43 low-set ears HP:0000369
44 posteriorly rotated ears HP:0000358
45 hypertelorism HP:0000316
46 epicanthus HP:0000286
47 malar flattening HP:0000272
48 macrocephaly HP:0000256
49 cryptorchidism HP:0000028

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 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

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MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

33
Testes, Skin, Smooth muscle, Spinal cord, Pancreas, Endothelial, Tongue

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:00020068.7MAP2K2, NF1, PTPN11
2MP:00107718.7MAP2K2, NF1, PTPN11
3MP:00053918.7MAP2K2, NF1, PTPN11
4MP:00053818.5MAP2K2, NF1, PTPN11
5MP:00053778.5MAP2K2, NF1, PTPN11
6MP:00053828.4MAP2K2, NF1, PTPN11

Publications for Neurofibromatosis-Noonan Syndrome

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Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 19)
idTitleAuthorsYear
1
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. (26758488)
2016
2
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome. (24357598)
2013
3
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. (22965773)
2012
4
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. (21549079)
2011
5
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (19449407)
2009
6
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (16380919)
2005
7
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (15948193)
2005
8
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
9
Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). (12707950)
2003
10
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. (11013475)
2000
11
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. (10206464)
1999
12
Neurofibromatosis-Noonan syndrome. (9475594)
1998
13
Neurofibromatosis-Noonan syndrome. (7501563)
1995
14
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. (8135279)
1993
15
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? (1348094)
1992
16
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. (2518512)
1989
17
Vertical transmission of the neurofibromatosis/Noonan syndrome. (3105315)
1987
18
The neurofibromatosis-Noonan syndrome. (3927725)
1985
19
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 pathwaysScoreTop Affiliating Genes
19.3NF1, PTPN11
2
Show member pathways
9.1MAP2K2, PTPN11
3
Show member pathways
9.1MAP2K2, PTPN11
4
Show member pathways
9.1MAP2K2, PTPN11
59.1MAP2K2, PTPN11
6
Show member pathways
9.1MAP2K2, PTPN11
7
Show member pathways
9.1MAP2K2, PTPN11
8
Show member pathways
9.1MAP2K2, PTPN11
99.1MAP2K2, PTPN11
10
Show member pathways
9.1MAP2K2, PTPN11
119.1MAP2K2, PTPN11
12
Show member pathways
9.1MAP2K2, PTPN11
139.1MAP2K2, PTPN11
149.1MAP2K2, PTPN11
15
Show member pathways
9.1MAP2K2, PTPN11
16
Show member pathways
9.1MAP2K2, PTPN11
179.1MAP2K2, PTPN11
18
Show member pathways
9.1MAP2K2, PTPN11
199.1MAP2K2, PTPN11
209.1MAP2K2, PTPN11
219.1MAP2K2, 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 8)
idNameGO IDScoreTop Affiliating Genes
1epidermal growth factor receptor signaling pathwayGO:00071739.8NF1, PTPN11
2activation of MAPK activityGO:00001879.6MAP2K2, PTPN11
3activation of MAPKK activityGO:00001869.3MAP2K2, NF1
4vascular endothelial growth factor receptor signaling pathwayGO:00480109.3MAP2K2, NF1
5Fc-epsilon receptor signaling pathwayGO:00380959.0NF1, PTPN11
6fibroblast growth factor receptor signaling pathwayGO:00085438.9MAP2K2, NF1, PTPN11
7insulin receptor signaling pathwayGO:00082868.7MAP2K2, NF1, PTPN11
8innate immune responseGO:00450878.5MAP2K2, 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