NFNS
MCID: NRF008
MIFTS: 44

Neurofibromatosis-Noonan Syndrome (NFNS) malady

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

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

Aliases & Descriptions for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 54 50 24 56 66 13 52 69
Nfns 50 24 56 66
Noonan Neurofibromatosis Syndrome 50 29
Neurofibromatosis Type 1-Noonan Syndrome 56
Neurofibromatosis with Noonan Phenotype 50

Characteristics:

Orphanet epidemiological data:

56
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601321
Orphanet 56 ORPHA638
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 43 C537393 D009456
UMLS via Orphanet 70 C0553586 C2931482
MedGen 40 C2931482

Summaries for Neurofibromatosis-Noonan Syndrome

UniProtKB/Swiss-Prot : 66 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, ptosis and dysphagia. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Developmental Biology and Cytokine Signaling in Immune system. Affiliated tissues include skin, and related phenotypes are craniofacial and digestive/alimentary

Description from OMIM: 601321

Related Diseases for Neurofibromatosis-Noonan Syndrome

Graphical network of the top 20 diseases related to Neurofibromatosis-Noonan Syndrome:



Diseases related to Neurofibromatosis-Noonan Syndrome

Symptoms & Phenotypes for Neurofibromatosis-Noonan Syndrome

Symptoms by clinical synopsis from OMIM:

601321

Clinical features from OMIM:

601321

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 ptosis 56 32 Very frequent (99-80%) HP:0000508
3 dysphagia 56 32 Frequent (79-30%) HP:0002015
4 abnormality of the helix 56 32 Very frequent (99-80%) HP:0011039
5 short stature 56 32 Very frequent (99-80%) HP:0004322
6 hypertrophic cardiomyopathy 56 32 Very frequent (99-80%) HP:0001639
7 abdominal wall muscle weakness 56 32 Very frequent (99-80%) HP:0009023
8 abnormality of the thorax 56 32 Frequent (79-30%) HP:0000765
9 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
10 webbed neck 56 32 Very frequent (99-80%) HP:0000465
11 abnormality of the lymphatic system 56 32 Frequent (79-30%) HP:0100763
12 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
13 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
14 multiple cafe-au-lait spots 56 32 Very frequent (99-80%) HP:0007565
15 specific learning disability 56 32 Very frequent (99-80%) HP:0001328
16 prolonged bleeding time 56 32 Frequent (79-30%) HP:0003010
17 pulmonic stenosis 56 32 Very frequent (99-80%) HP:0001642
18 muscle weakness 32 HP:0001324
19 macrocephaly 32 HP:0000256
20 malar flattening 32 HP:0000272
21 low-set ears 32 HP:0000369
22 short neck 32 HP:0000470
23 scoliosis 32 HP:0002650
24 global developmental delay 32 HP:0001263
25 depressed nasal bridge 32 HP:0005280
26 delayed speech and language development 32 HP:0000750
27 epicanthus 32 HP:0000286
28 low posterior hairline 32 HP:0002162
29 cubitus valgus 32 HP:0002967
30 abnormality of the face 56 Very frequent (99-80%)
31 midface retrusion 32 HP:0011800
32 secundum atrial septal defect 32 HP:0001684
33 posteriorly rotated ears 32 HP:0000358
34 cafe-au-lait spot 32 HP:0000957
35 prominent nasolabial fold 32 HP:0005272
36 neurofibromas 32 HP:0001067
37 axillary freckling 32 HP:0000997
38 optic glioma 32 HP:0009734
39 lisch nodules 32 HP:0009737
40 inguinal freckling 32 HP:0030052
41 pectus excavatum of inferior sternum 32 HP:0000915
42 superior pectus carinatum 32 HP:0000917

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 MAP2K2 NF1 PTPN11
2 digestive/alimentary MP:0005381 9.5 MAP2K2 NF1 PTPN11
3 hearing/vestibular/ear MP:0005377 9.43 MAP2K2 NF1 PTPN11
4 integument MP:0010771 9.33 MAP2K2 NF1 PTPN11
5 neoplasm MP:0002006 9.13 MAP2K2 NF1 PTPN11
6 vision/eye MP:0005391 8.8 MAP2K2 NF1 PTPN11

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

Search Clinical Trials , NIH Clinical Center for Neurofibromatosis-Noonan Syndrome

Genetic Tests for Neurofibromatosis-Noonan Syndrome

Genetic tests related to Neurofibromatosis-Noonan Syndrome:

id Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome 29 24 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

39
Skin

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 19)
id Title Authors Year
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
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. ( 15948193 )
2005
7
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. ( 16380919 )
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

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis-Noonan Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 NF1 p.Lys1444Glu VAR_002659 rs137854550
2 NF1 p.Leu194Arg VAR_032462 rs199474753
3 NF1 p.Asn1451Thr VAR_032475 rs199474754
4 NF1 p.Val1453Leu VAR_032476 rs199474755
5 NF1 p.Leu1411Phe VAR_065236 rs199474789

ClinVar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
2 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
3 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh37 Chromosome 17, 29576122: 29576123
4 NF1 NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met) indel Pathogenic rs267606609 GRCh37 Chromosome 17, 29527496: 29527497
5 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419

Expression for Neurofibromatosis-Noonan Syndrome

Search GEO for disease gene expression data for Neurofibromatosis-Noonan Syndrome.

Pathways for Neurofibromatosis-Noonan Syndrome

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

(show all 34)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 MAP2K2 NF1 PTPN11
2
Show member pathways
12.89 MAP2K2 NF1 PTPN11
3
Show member pathways
12.11 MAP2K2 PTPN11
4
Show member pathways
12.07 MAP2K2 PTPN11
5
Show member pathways
12.07 MAP2K2 PTPN11
6
Show member pathways
12.07 MAP2K2 NF1 PTPN11
7
Show member pathways
12.04 MAP2K2 PTPN11
8
Show member pathways
12.03 MAP2K2 PTPN11
9
Show member pathways
12.01 MAP2K2 PTPN11
10
Show member pathways
11.96 MAP2K2 PTPN11
11
Show member pathways
11.93 MAP2K2 PTPN11
12 11.92 MAP2K2 PTPN11
13
Show member pathways
11.92 MAP2K2 NF1
14
Show member pathways
11.89 MAP2K2 PTPN11
15 11.81 MAP2K2 PTPN11
16
Show member pathways
11.8 MAP2K2 PTPN11
17
Show member pathways
11.76 MAP2K2 PTPN11
18 11.73 MAP2K2 PTPN11
19
Show member pathways
11.71 MAP2K2 PTPN11
20
Show member pathways
11.69 MAP2K2 NF1
21
Show member pathways
11.67 MAP2K2 PTPN11
22 11.58 MAP2K2 NF1
23
Show member pathways
11.52 MAP2K2 NF1 PTPN11
24
Show member pathways
11.5 MAP2K2 PTPN11
25 11.44 MAP2K2 PTPN11
26
Show member pathways
11.41 MAP2K2 PTPN11
27
Show member pathways
11.35 MAP2K2 PTPN11
28
Show member pathways
11.26 MAP2K2 NF1
29 11.08 MAP2K2 PTPN11
30 11.05 MAP2K2 PTPN11
31
Show member pathways
10.99 MAP2K2 PTPN11
32 10.83 MAP2K2 NF1 PTPN11
33
Show member pathways
10.78 MAP2K2 PTPN11
34 10.67 MAP2K2 PTPN11

GO Terms for Neurofibromatosis-Noonan Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.32 MAP2K2 NF1
2 brain development GO:0007420 9.26 NF1 PTPN11
3 heart development GO:0007507 9.16 NF1 PTPN11
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.96 MAP2K2 PTPN11
5 activation of MAPK activity GO:0000187 8.62 MAP2K2 PTPN11

Sources for Neurofibromatosis-Noonan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....