MCID: NRF008
MIFTS: 47

Neurofibromatosis-Noonan Syndrome

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

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

MalaCards integrated aliases for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 53 72 49 55 71 28 13 51 69
Nfns 53 49 55 71
Neurofibromatosis with Noonan Phenotype 53 49
Neurofibromatosis Type 1-Noonan Syndrome 55
Noonan-Neurofibromatosis Syndrome 53
Noonan Neurofibromatosis Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 and noonan syndrome


HPO:

31
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis-Noonan Syndrome

UniProtKB/Swiss-Prot : 71 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, type iv, of riccardi and noonan syndrome 1, 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 brain, and related phenotypes are craniofacial and digestive/alimentary

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Neurofibromatosis.

Wikipedia : 72 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

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 via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
scoliosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline
frontal upsweep of the hair

Skin Nails Hair Skin:
neurofibromas
cafe-au-lait spots
axillary freckling
inguinal freckling

Head And Neck Face:
midface hypoplasia
prominent nasolabial folds

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum superiorly
pectus excavatum inferiorly

Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds
lisch nodules

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus

Cardiovascular Heart:
pulmonic stenosis

Neoplasia:
neurofibromas
optic glioma
low incidence of plexiform neurofibromas

Neurologic Central Nervous System:
speech delay
developmental delay, mild
articulation defects
unidentified bright objects seen on brain mri

Head And Neck Nose:
low nasal root


Clinical features from OMIM:

601321

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

55 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
4 abnormality of the helix 55 31 hallmark (90%) Very frequent (99-80%) HP:0011039
5 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 hypertrophic cardiomyopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001639
7 abdominal wall muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0009023
8 abnormality of the thorax 55 31 frequent (33%) Frequent (79-30%) HP:0000765
9 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
10 webbed neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000465
11 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
12 abnormality of the lymphatic system 55 31 frequent (33%) Frequent (79-30%) HP:0100763
13 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
14 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
15 multiple cafe-au-lait spots 55 31 hallmark (90%) Very frequent (99-80%) HP:0007565
16 prolonged bleeding time 55 31 frequent (33%) Frequent (79-30%) HP:0003010
17 pulmonic stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001642
18 muscle weakness 31 HP:0001324
19 macrocephaly 31 HP:0000256
20 malar flattening 31 HP:0000272
21 low-set ears 31 HP:0000369
22 short neck 31 HP:0000470
23 scoliosis 31 HP:0002650
24 global developmental delay 31 HP:0001263
25 depressed nasal bridge 31 HP:0005280
26 delayed speech and language development 31 HP:0000750
27 epicanthus 31 HP:0000286
28 cubitus valgus 31 HP:0002967
29 low posterior hairline 31 HP:0002162
30 abnormality of the face 55 Very frequent (99-80%)
31 midface retrusion 31 HP:0011800
32 secundum atrial septal defect 31 HP:0001684
33 cafe-au-lait spot 31 HP:0000957
34 posteriorly rotated ears 31 HP:0000358
35 neurofibromas 31 HP:0001067
36 prominent nasolabial fold 31 HP:0005272
37 axillary freckling 31 HP:0000997
38 inguinal freckling 31 HP:0030052
39 lisch nodules 31 occasional (7.5%) HP:0009737
40 optic nerve glioma 31 HP:0009734
41 pectus excavatum of inferior sternum 31 HP:0000915
42 superior pectus carinatum 31 HP:0000917

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 MAP2K2 NF1 PTPN11
2 digestive/alimentary MP:0005381 9.43 MAP2K2 NF1 PTPN11
3 hearing/vestibular/ear MP:0005377 9.33 MAP2K2 NF1 PTPN11
4 neoplasm MP:0002006 9.13 MAP2K2 NF1 PTPN11
5 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:

# Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome 28 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

38
Skin, Brain

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 20)
# Title Authors Year
1
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. ( 28971455 )
2017
2
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. ( 26758488 )
2016
3
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome. ( 24357598 )
2013
4
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. ( 22965773 )
2012
5
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. ( 21549079 )
2011
6
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. ( 19449407 )
2009
7
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. ( 16380919 )
2005
8
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. ( 15948193 )
2005
9
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. ( 15356469 )
2004
10
Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). ( 12707950 )
2003
11
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. ( 11013475 )
2000
12
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. ( 10206464 )
1999
13
Neurofibromatosis-Noonan syndrome. ( 9475594 )
1998
14
Neurofibromatosis-Noonan syndrome. ( 7501563 )
1995
15
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. ( 8135279 )
1993
16
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? ( 1348094 )
1992
17
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. ( 2518512 )
1989
18
Vertical transmission of the neurofibromatosis/Noonan syndrome. ( 3105315 )
1987
19
The neurofibromatosis-Noonan syndrome. ( 3927725 )
1985
20
The neurofibromatosis-Noonan syndrome. ( 3927726 )
1985

Variations for Neurofibromatosis-Noonan Syndrome

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
2 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh37 Chromosome 17, 29684326: 29684326
3 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
4 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Pathogenic/Likely pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
5 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh37 Chromosome 17, 29576122: 29576123
6 NF1 NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met) indel Pathogenic rs267606609 GRCh37 Chromosome 17, 29527496: 29527497

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)
# 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
12.1 MAP2K2 PTPN11
5
Show member pathways
12.07 MAP2K2 PTPN11
6
Show member pathways
12.07 MAP2K2 NF1 PTPN11
7
Show member pathways
12.06 MAP2K2 PTPN11
8
Show member pathways
12.03 MAP2K2 PTPN11
9
Show member pathways
12.02 MAP2K2 PTPN11
10
Show member pathways
12.01 MAP2K2 PTPN11
11
Show member pathways
11.94 MAP2K2 PTPN11
12
Show member pathways
11.93 MAP2K2 PTPN11
13 11.92 MAP2K2 PTPN11
14
Show member pathways
11.91 MAP2K2 NF1
15
Show member pathways
11.88 MAP2K2 PTPN11
16 11.81 MAP2K2 PTPN11
17
Show member pathways
11.79 MAP2K2 PTPN11
18
Show member pathways
11.76 MAP2K2 PTPN11
19
Show member pathways
11.75 MAP2K2 PTPN11
20 11.72 MAP2K2 PTPN11
21
Show member pathways
11.67 MAP2K2 NF1
22
Show member pathways
11.65 MAP2K2 PTPN11
23
Show member pathways
11.54 MAP2K2 PTPN11
24 11.54 MAP2K2 NF1
25
Show member pathways
11.52 MAP2K2 NF1 PTPN11
26 11.46 MAP2K2 PTPN11
27
Show member pathways
11.44 MAP2K2 PTPN11
28
Show member pathways
11.37 MAP2K2 PTPN11
29
Show member pathways
11.21 MAP2K2 NF1
30 11.05 MAP2K2 PTPN11
31 11.01 MAP2K2 PTPN11
32
Show member pathways
10.94 MAP2K2 PTPN11
33 10.85 MAP2K2 NF1 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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