MCID: NRF008
MIFTS: 45

Neurofibromatosis-Noonan Syndrome malady

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

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 50 46 23 52 68 12 48 66
Nfns 46 23 52 68
Noonan Neurofibromatosis Syndrome 46 25
 
Neurofibromatosis Type 1-Noonan Syndrome 52
Neurofibromatosis with Noonan Phenotype 46

Characteristics:

Orphanet epidemiological data:

52
neurofibromatosis-noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
neurofibromatosis-noonan syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 601321
Orphanet52 ORPHA638
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C537393, D009456
UMLS via Orphanet67 C0553586, C2931482
MedGen35 C2931482

Summaries for Neurofibromatosis-Noonan Syndrome

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UniProtKB/Swiss-Prot:68 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 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 Immune response IL-2 activation and signaling pathway. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and integument.

Description from OMIM:50 601321

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:

 52 (show all 18)
  • cryptorchidism
  • abnormality of the face
  • hypertelorism
  • low-set, posteriorly rotated ears
  • webbed neck
  • downslanted palpebral fissures
  • ptosis
  • abnormality of the thorax
  • specific learning disability
  • hypertrophic cardiomyopathy
  • pulmonic stenosis
  • dysphagia
  • prolonged bleeding time
  • short stature
  • multiple cafe-au-lait spots
  • abdominal wall muscle weakness
  • abnormality of the helix
  • abnormality of the lymphatic system

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 cryptorchidism HP:0000028
19 macrocephaly HP:0000256
20 malar flattening HP:0000272
21 epicanthus HP:0000286
22 hypertelorism HP:0000316
23 posteriorly rotated ears HP:0000358
24 low-set ears HP:0000369
25 webbed neck HP:0000465
26 short neck HP:0000470
27 downslanted palpebral fissures HP:0000494
28 ptosis HP:0000508
29 delayed speech and language development HP:0000750
30 pectus excavatum of inferior sternum HP:0000915
31 superior pectus carinatum HP:0000917
32 cafe-au-lait spot HP:0000957
33 axillary freckling HP:0000997
34 neurofibromas HP:0001067
35 global developmental delay HP:0001263
36 muscle weakness HP:0001324
37 specific learning disability HP:0001328
38 pulmonic stenosis HP:0001642
39 secundum atrial septal defect HP:0001684
40 low posterior hairline HP:0002162
41 scoliosis HP:0002650
42 cubitus valgus HP:0002967
43 short stature HP:0004322
44 prominent nasolabial fold HP:0005272
45 depressed nasal bridge HP:0005280
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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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 Syndrome25 23 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

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MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

34
Skin

Animal Models for Neurofibromatosis-Noonan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8MAP2K2, NF1, PTPN11
2MP:00107718.8MAP2K2, NF1, PTPN11
3MP:00053828.7MAP2K2, NF1, PTPN11
4MP:00020068.5MAP2K2, NF1, PTPN11
5MP:00053918.5MAP2K2, NF1, PTPN11
6MP:00053818.4MAP2K2, 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:

68
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 29)
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
79.1MAP2K2, PTPN11
8
Show member pathways
9.1MAP2K2, PTPN11
9
Show member pathways
9.1MAP2K2, PTPN11
109.1MAP2K2, PTPN11
119.1MAP2K2, PTPN11
12
Show member pathways
9.1MAP2K2, PTPN11
13
Show member pathways
9.1MAP2K2, 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
19
Show member pathways
9.1MAP2K2, PTPN11
209.1MAP2K2, PTPN11
219.1MAP2K2, PTPN11
229.1MAP2K2, PTPN11
239.1MAP2K2, PTPN11
249.0MAP2K2, NF1
25
Show member pathways
9.0MAP2K2, NF1
269.0MAP2K2, NF1
27
Show member pathways
8.5MAP2K2, NF1, PTPN11
28
Show member pathways
8.5MAP2K2, NF1, PTPN11
29
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:

idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:00001659.2MAP2K2, NF1
2brain developmentGO:00074209.2NF1, PTPN11
3activation of MAPK activityGO:00001879.1MAP2K2, PTPN11
4positive regulation of ERK1 and ERK2 cascadeGO:00703748.8MAP2K2, PTPN11
5heart developmentGO:00075078.6MAP2K2, NF1, PTPN11

Sources for Neurofibromatosis-Noonan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet