MCID: NRF008
MIFTS: 44

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:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 52 48 24 54 70 12 50 68
Nfns 48 24 54 70
Noonan Neurofibromatosis Syndrome 48 27
 
Neurofibromatosis Type 1-Noonan Syndrome 54
Neurofibromatosis with Noonan Phenotype 48

Characteristics:

Orphanet epidemiological data:

54
neurofibromatosis-noonan syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
neurofibromatosis-noonan syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 601321
Orphanet54 ORPHA638
ICD10 via Orphanet31 Q87.1
MESH via Orphanet40 C537393, D009456
UMLS via Orphanet69 C0553586, C2931482
MedGen37 C2931482

Summaries for Neurofibromatosis-Noonan Syndrome

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UniProtKB/Swiss-Prot:70 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 giant cell tumor, 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 Kit Receptor Signaling Pathway. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and digestive/alimentary.

Description from OMIM:52 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 & Phenotypes for Neurofibromatosis-Noonan Syndrome

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Symptoms by clinical synopsis from OMIM:

601321

Clinical features from OMIM:

601321

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

 64 54 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set, posteriorly rotated ears64 54 hallmark (90%) Very frequent (99-80%) HP:0000368
3 webbed neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000465
4 downslanted palpebral fissures64 54 hallmark (90%) Very frequent (99-80%) HP:0000494
5 ptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000508
6 cafe-au-lait spot64 hallmark (90%) HP:0000957
7 hypertrophic cardiomyopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0001639
8 abnormality of the pulmonary valve64 hallmark (90%) HP:0001641
9 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
10 aplasia/hypoplasia of the abdominal wall musculature64 hallmark (90%) HP:0010318
11 abnormality of the helix64 54 hallmark (90%) Very frequent (99-80%) HP:0011039
12 cognitive impairment64 hallmark (90%) HP:0100543
13 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
14 abnormality of the thorax64 54 typical (50%) Frequent (79-30%) HP:0000765
15 abnormality of coagulation64 typical (50%) HP:0001928
16 feeding difficulties in infancy64 typical (50%) HP:0008872
17 abnormality of the lymphatic system64 54 typical (50%) Frequent (79-30%) HP:0100763
18 macrocephaly64 HP:0000256
19 malar flattening64 HP:0000272
20 epicanthus64 HP:0000286
21 posteriorly rotated ears64 HP:0000358
22 low-set ears64 HP:0000369
23 short neck64 HP:0000470
24 delayed speech and language development64 HP:0000750
25 pectus excavatum of inferior sternum64 HP:0000915
26 superior pectus carinatum64 HP:0000917
27 axillary freckling64 HP:0000997
28 neurofibromas64 HP:0001067
29 global developmental delay64 HP:0001263
30 muscle weakness64 HP:0001324
31 specific learning disability64 54 Very frequent (99-80%) HP:0001328
32 pulmonic stenosis64 54 Very frequent (99-80%) HP:0001642
33 secundum atrial septal defect64 HP:0001684
34 low posterior hairline64 HP:0002162
35 scoliosis64 HP:0002650
36 cubitus valgus64 HP:0002967
37 prominent nasolabial fold64 HP:0005272
38 depressed nasal bridge64 HP:0005280
39 optic glioma64 HP:0009734
40 lisch nodules64 HP:0009737
41 midface retrusion64 HP:0011800
42 inguinal freckling64 HP:0030052
43 abnormality of the face54 Very frequent (99-80%)
44 dysphagia54 Frequent (79-30%)
45 prolonged bleeding time54 Frequent (79-30%)
46 multiple cafe-au-lait spots54 Very frequent (99-80%)
47 abdominal wall muscle weakness54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3MAP2K2, NF1, PTPN11
2MP:00053819.3MAP2K2, NF1, PTPN11
3MP:00053779.3MAP2K2, NF1, PTPN11
4MP:00107719.3MAP2K2, NF1, PTPN11
5MP:00020069.2MAP2K2, NF1, PTPN11
6MP:00053918.5MAP2K2, NF1, PTPN11

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 Syndrome27 24 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

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MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

36
Skin

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:

70
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)SNVLikely 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 24)
idSuper pathwaysScoreTop Affiliating Genes
19.3NF1, PTPN11
2
Show member pathways
9.1MAP2K2, PTPN11
39.1MAP2K2, PTPN11
4
Show member pathways
9.1MAP2K2, PTPN11
5
Show member pathways
9.1MAP2K2, PTPN11
69.1MAP2K2, 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
14
Show member pathways
9.1MAP2K2, PTPN11
159.1MAP2K2, PTPN11
169.1MAP2K2, PTPN11
17
Show member pathways
9.1MAP2K2, PTPN11
189.1MAP2K2, PTPN11
199.0MAP2K2, NF1
20
Show member pathways
9.0MAP2K2, NF1
219.0MAP2K2, NF1
22
Show member pathways
8.5MAP2K2, NF1, PTPN11
23
Show member pathways
8.5MAP2K2, NF1, PTPN11
24
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
1brain developmentGO:000742010.0NF1, PTPN11
2activation of MAPK activityGO:00001879.8MAP2K2, PTPN11
3MAPK cascadeGO:00001659.6MAP2K2, NF1
4heart developmentGO:00075079.2MAP2K2, NF1, PTPN11
5positive regulation of ERK1 and ERK2 cascadeGO:00703749.1MAP2K2, PTPN11

Sources for Neurofibromatosis-Noonan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet