NFNS
MCID: NRF008
MIFTS: 52

Neurofibromatosis-Noonan Syndrome (NFNS)

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

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

MalaCards integrated aliases for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 56 74 52 58 73 36 29 13 54 6 39 71
Nfns 56 52 58 73
Neurofibromatosis with Noonan Phenotype 56 52
Neurofibromatosis Type 1-Noonan Syndrome 58
Noonan-Neurofibromatosis Syndrome 56
Noonan Neurofibromatosis Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 and noonan syndrome


HPO:

31
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Neurofibromatosis-Noonan Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 638 Definition Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature , typical facial features (hypertelorism, ptosis , downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafe-au-lait spots are present in patients diagnosed with NS). Visit the Orphanet disease page for more resources.

MalaCards based summary : Neurofibromatosis-Noonan Syndrome, also known as nfns, is related to neurofibromatosis, type iv, of riccardi and noonan syndrome 1. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Ras signaling pathway and MAPK signaling pathway. The drugs Lovastatin and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are hypertelorism and ptosis

KEGG : 36 Neurofibromatosis-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders, neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. It has been reported that mutations in the NF1 gene are associated with NFNS.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

More information from OMIM: 601321

Related Diseases for Neurofibromatosis-Noonan Syndrome

Diseases related to Neurofibromatosis-Noonan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 30.4 PTPN11 NF1
2 noonan syndrome 1 29.9 PTPN11 NF1 MAP2K2
3 learning disability 29.6 PTPN11 NF1
4 rasopathy 29.3 PTPN11 NF1 MAP2K2
5 pulmonic stenosis 29.1 PTPN11 NF1 MAP2K2
6 leopard syndrome 29.0 PTPN11 NF1 MAP2K2
7 medulloblastoma 11.5
8 pseudo-turner syndrome 10.7
9 neurofibromatosis, type i 10.3
10 fibroma 10.2
11 giant cell tumor 10.2
12 pigmented villonodular synovitis 10.2
13 synovitis 10.2
14 tenosynovial giant cell tumor 10.2
15 villonodular synovitis 10.2
16 fetal hydantoin syndrome 10.2
17 ptosis 10.2
18 neurofibroma 10.2
19 hypotonia 10.2
20 migraine with or without aura 1 10.1
21 dermatitis, atopic 10.1
22 withdrawal disorder 10.1
23 contact dermatitis 10.1
24 allergic contact dermatitis 10.1
25 skin disease 10.1
26 cryptorchidism, unilateral or bilateral 10.0
27 noonan syndrome 4 10.0
28 leukemia, acute lymphoblastic 10.0
29 lymphocytic leukemia 10.0
30 leukemia 10.0
31 giant cell reparative granuloma 10.0
32 plexiform neurofibroma 10.0
33 infertility 10.0
34 growth hormone deficiency 10.0
35 neurofibromatosis, familial spinal 9.9 NF1 LOC111811965
36 noonan syndrome and noonan-related syndrome 9.7 PTPN11 MAP2K2
37 specific learning disability 9.7 PTPN11 NF1
38 legius syndrome 9.7 PTPN11 NF1
39 pulmonary valve disease 9.7 PTPN11 MAP2K2
40 pulmonary valve stenosis 9.6 PTPN11 MAP2K2
41 myelodysplastic/myeloproliferative neoplasm 9.6 PTPN11 NF1
42 melanoma, cutaneous malignant 1 9.6 NF1 MAP2K2
43 myeloproliferative neoplasm 9.6 PTPN11 NF1
44 chronic myelomonocytic leukemia 9.5 PTPN11 NF1
45 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.5 PTPN11 NF1
46 skin granular cell tumor 9.3 PTPN11 NF1 MAP2K2
47 costello syndrome 9.3 PTPN11 NF1 MAP2K2
48 cardiofaciocutaneous syndrome 1 9.3 PTPN11 NF1 MAP2K2
49 juvenile myelomonocytic leukemia 9.2 PTPN11 NF1

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



Diseases related to Neurofibromatosis-Noonan Syndrome

Symptoms & Phenotypes for Neurofibromatosis-Noonan Syndrome

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 very rare (1%) Very frequent (99-80%) HP:0000316
2 ptosis 58 31 very rare (1%) Very frequent (99-80%) HP:0000508
3 abnormality of the helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0011039
4 short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0004322
5 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
6 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
7 abdominal wall muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009023
8 webbed neck 58 31 very rare (1%) Very frequent (99-80%) HP:0000465
9 specific learning disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001328
10 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
11 multiple cafe-au-lait spots 58 31 very rare (1%) Very frequent (99-80%) HP:0007565
12 pulmonic stenosis 58 31 very rare (1%) Very frequent (99-80%) HP:0001642
13 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
14 cryptorchidism 58 31 very rare (1%) Frequent (79-30%) HP:0000028
15 abnormality of the thorax 58 31 frequent (33%) Frequent (79-30%) HP:0000765
16 abnormality of the lymphatic system 58 31 frequent (33%) Frequent (79-30%) HP:0100763
17 prolonged bleeding time 58 31 frequent (33%) Frequent (79-30%) HP:0003010
18 macrocephaly 31 very rare (1%) HP:0000256
19 malar flattening 31 very rare (1%) HP:0000272
20 low-set ears 31 very rare (1%) HP:0000369
21 pectus excavatum 31 very rare (1%) HP:0000767
22 intellectual disability 31 very rare (1%) HP:0001249
23 scoliosis 31 very rare (1%) HP:0002650
24 thick vermilion border 31 very rare (1%) HP:0012471
25 epicanthus 31 very rare (1%) HP:0000286
26 cubitus valgus 31 very rare (1%) HP:0002967
27 low posterior hairline 31 very rare (1%) HP:0002162
28 posteriorly rotated ears 31 very rare (1%) HP:0000358
29 plexiform neurofibroma 31 very rare (1%) HP:0009732
30 lisch nodules 31 very rare (1%) HP:0009737
31 neuroblastoma 31 very rare (1%) HP:0003006
32 axillary freckling 31 very rare (1%) HP:0000997
33 optic nerve glioma 31 very rare (1%) HP:0009734
34 short neck 31 HP:0000470
35 muscle weakness 31 HP:0001324
36 global developmental delay 31 HP:0001263
37 depressed nasal bridge 31 HP:0005280
38 delayed speech and language development 31 HP:0000750
39 midface retrusion 31 HP:0011800
40 abnormality of the face 58 Very frequent (99-80%)
41 secundum atrial septal defect 31 HP:0001684
42 prominent nasolabial fold 31 HP:0005272
43 inguinal freckling 31 HP:0030052
44 pectus excavatum of inferior sternum 31 HP:0000915
45 superior pectus carinatum 31 HP:0000917

Symptoms via clinical synopsis from OMIM:

56
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
axillary freckling
inguinal freckling
cafe-au-lait spots

Head And Neck Face:
midface hypoplasia
prominent nasolabial folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum superiorly
pectus excavatum inferiorly

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

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

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 MAP2K2 NF1 PTPN11
2 neoplasm MP:0002006 8.8 MAP2K2 NF1 PTPN11

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

Drugs for Neurofibromatosis-Noonan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
2
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
3
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
4 Tranquilizing Agents Phase 2
5 Antipsychotic Agents Phase 2
6 Anticholesteremic Agents Phase 2
7 Hypolipidemic Agents Phase 2
8 Dihydromevinolin Phase 2
9 Psychotropic Drugs Phase 2
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
11 Anticonvulsants Phase 2
12 Central Nervous System Depressants Phase 2
13 Calcium, Dietary Phase 2
14 calcium channel blockers Phase 2
15 Sodium Channel Blockers Phase 2
16 L 647318 Phase 2
17 Antimetabolites Phase 2
18 Diuretics, Potassium Sparing Phase 2
19 Lipid Regulating Agents Phase 2
20 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine

Search 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 29 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

40
Brain, Heart, Testes, Skin, Thyroid

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 61 56 6
19845691 2009
2
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 61 56 6
16542390 2006
3
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). 61 56 6
12707950 2003
4
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. 56 6
7586657 1995
5
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 54 61 56
19449407 2009
6
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 61 56
16380919 2005
7
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 61 56
15948193 2005
8
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. 61 56
10206464 1999
9
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. 61 56
9475595 1998
10
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. 61 56
8985499 1996
11
Neurofibromatosis with fully expressed Noonan syndrome. 61 56
3135755 1988
12
Vertical transmission of the neurofibromatosis/Noonan syndrome. 61 56
3105315 1987
13
Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. 61 56
3105316 1987
14
The neurofibromatosis-Noonan syndrome. 61 56
3927726 1985
15
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. 6
17160901 2007
16
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. 6
14569132 2003
17
Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. 56
8740913 1996
18
Mapping a gene for Noonan syndrome to the long arm of chromosome 12. 56
7894486 1994
19
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. 6
1568246 1992
20
Noonan phenotype associated with neurofibromatosis. 56
2411134 1985
21
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 54 61
17020470 2006
22
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 61
31088041 2019
23
High performance electronic devices based on nanofibers via a crosslinking welding process. 61
30310899 2018
24
Low-voltage and high-performance field-effect transistors based on ZnxSn1-xO nanofibers with a ZrOx dielectric. 61
30043022 2018
25
Nature-Inspired Capillary-Driven Welding Process for Boosting Metal-Oxide Nanofiber Electronics. 61
29799183 2018
26
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. 61
28971455 2017
27
Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors? 61
27107091 2016
28
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 61
26758488 2016
29
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 61
24767283 2014
30
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 61
24357598 2014
31
Multiple café au lait spots in familial patients with MAP2K2 mutation. 61
24311457 2014
32
Rasopathies - dysmorphic syndromes with short stature and risk of malignancy. 61
24156711 2013
33
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 61
23047742 2013
34
Synthesis and characterization of nickel and zinc ferrite nanocatalysts for decomposition of CO2 greenhouse effect gas. 61
23763127 2013
35
Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link. 61
23691379 2013
36
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. 61
22965773 2012
37
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. 61
22488932 2012
38
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 61
21365175 2011
39
Lethal presentation of neurofibromatosis and Noonan syndrome. 61
21567923 2011
40
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. 61
21549079 2011
41
Genetic and pathogenetic aspects of Noonan syndrome and related disorders. 61
20029240 2009
42
Asymmetric lateral inhibitory neural activity in the auditory system: a magnetoencephalographic study. 61
17509141 2007
43
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 61
17103458 2006
44
The dependence of the auditory evoked N1m decrement on the bandwidth of preceding notch-filtered noise. 61
15869488 2005
45
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. 61
15356469 2004
46
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. 61
11013475 2000
47
Neurofibromatosis-Noonan syndrome. 61
9475594 1998
48
Noonan syndrome and its related disorders. 61
8992851 1996
49
Neurologic and other disorders in relatives of pediatric patients with CNS tumors. 61
8534275 1995
50
Neurofibromatosis-Noonan syndrome. 61
7501563 1995

Variations for Neurofibromatosis-Noonan Syndrome

ClinVar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

6 (show top 50) (show all 129) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln)SNV Pathogenic 185354 rs786202112 17:29654857-29654857 17:31327839-31327839
2 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter)SNV Pathogenic 187652 rs786203896 17:29657486-29657486 17:31330468-31330468
3 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter)SNV Pathogenic 185082 rs772295894 17:29665757-29665757 17:31338739-31338739
4 NF1 NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu)SNV Pathogenic 336 rs137854550 17:29585518-29585518 17:31258500-31258500
5 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter)SNV Pathogenic 343 rs137854552 17:29661945-29661945 17:31334927-31334927
6 NF1 NM_000267.3(NF1):c.2970_2972del (p.Met992del)deletion Pathogenic 363 rs267606606 17:29556972-29556974 17:31229954-31229956
7 NF1 NM_000267.3(NF1):c.4095_4096insTG (p.His1366fs)insertion Pathogenic 365 rs267606608 17:29576122-29576123 17:31249104-31249105
8 NF1 NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln)SNV Pathogenic 68341 rs137854556 17:29562747-29562747 17:31235729-31235729
9 NF1 NM_000267.3(NF1):c.1318C>T (p.Arg440Ter)SNV Pathogenic 230673 rs778405030 17:29533315-29533315 17:31206297-31206297
10 NF1 NM_000267.3(NF1):c.2446C>T (p.Arg816Ter)SNV Pathogenic 280055 rs886041347 17:29556079-29556079 17:31229061-31229061
11 NF1 NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter)SNV Pathogenic 428948 rs1131691073 17:29667571-29667571 17:31340553-31340553
12 NF1 NM_000267.3(NF1):c.6641+1G>TSNV Pathogenic 547680 rs1060500376 17:29664899-29664899 17:31337881-31337881
13 NF1 NM_000267.3(NF1):c.2266C>T (p.Gln756Ter)SNV Pathogenic 576444 rs1567847905 17:29554250-29554250 17:31227232-31227232
14 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter)SNV Pathogenic 570950 rs1567862991 17:29587499-29587499 17:31260481-31260481
15 NF1 NM_000267.3(NF1):c.3870+1G>TSNV Pathogenic 565498 rs1131691075 17:29562791-29562791 17:31235773-31235773
16 NF1 NM_000267.3(NF1):c.3447G>T (p.Met1149Ile)SNV Pathogenic/Likely pathogenic 457650 rs1064794277 17:29559850-29559850 17:31232832-31232832
17 NF1 NM_000267.3(NF1):c.5943+1G>ASNV Pathogenic/Likely pathogenic 488817 rs1555534433 17:29662050-29662050 17:31335032-31335032
18 NF1 NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter)SNV Pathogenic/Likely pathogenic 233869 rs876660696 17:29662034-29662034 17:31335016-31335016
19 NF1 NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe)SNV Pathogenic/Likely pathogenic 30992 rs199474789 17:29585419-29585419 17:31258401-31258401
20 NF1 NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter)SNV Pathogenic/Likely pathogenic 184261 rs786201367 17:29684326-29684326 17:31357308-31357308
21 NF1 NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu)SNV Pathogenic/Likely pathogenic 208854 rs771529172 17:29654737-29654737 17:31327719-31327719
22 NF1 NM_001042492.2(NF1):c.4372_4374GAA[1] (p.Glu1459del)short repeat Likely pathogenic 364 rs267606607 17:29586087-29586089 17:31259069-31259071
23 MAP2K2 NM_030662.3(MAP2K2):c.274A>G (p.Arg92Gly)SNV Conflicting interpretations of pathogenicity 40772 rs759061964 19:4117446-4117446 19:4117448-4117448
24 NF1 NM_000267.3(NF1):c.8436T>C (p.Asn2812=)SNV Conflicting interpretations of pathogenicity 184533 rs142636150 17:29701152-29701152 17:31374134-31374134
25 NF1 NM_000267.3(NF1):c.7183C>T (p.Leu2395=)SNV Conflicting interpretations of pathogenicity 184165 rs786201310 17:29676194-29676194 17:31349176-31349176
26 NF1 NM_000267.3(NF1):c.6963G>A (p.Leu2321=)SNV Conflicting interpretations of pathogenicity 184460 rs371581213 17:29667627-29667627 17:31340609-31340609
27 NF1 NM_000267.3(NF1):c.4686A>G (p.Glu1562=)SNV Conflicting interpretations of pathogenicity 184594 rs144091165 17:29592271-29592271 17:31265253-31265253
28 NF1 NM_000267.3(NF1):c.4788A>G (p.Gln1596=)SNV Conflicting interpretations of pathogenicity 184492 rs150309802 17:29652853-29652853 17:31325835-31325835
29 NF1 NM_000267.3(NF1):c.1810T>C (p.Leu604=)SNV Conflicting interpretations of pathogenicity 184133 rs142712751 17:29550550-29550550 17:31223532-31223532
30 NF1 NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala)SNV Conflicting interpretations of pathogenicity 185777 rs143836226 17:29562948-29562948 17:31235930-31235930
31 NF1 NM_000267.3(NF1):c.6492G>A (p.Arg2164=)SNV Conflicting interpretations of pathogenicity 186748 rs786203189 17:29664513-29664513 17:31337495-31337495
32 NF1 NM_000267.3(NF1):c.4661+11A>GSNV Conflicting interpretations of pathogenicity 227742 rs368649260 17:29588886-29588886 17:31261868-31261868
33 NF1 NM_000267.3(NF1):c.528T>A (p.Asp176Glu)SNV Conflicting interpretations of pathogenicity 41673 rs112306990 17:29496957-29496957 17:31169939-31169939
34 NF1 NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe)SNV Conflicting interpretations of pathogenicity 41679 rs201824349 17:29685632-29685632 17:31358614-31358614
35 NF1 NM_000267.3(NF1):c.730+16dupduplication Conflicting interpretations of pathogenicity 322568 rs373999174 17:29508818-29508819 17:31181800-31181801
36 NF1 NM_000267.3(NF1):c.3891A>G (p.Leu1297=)SNV Conflicting interpretations of pathogenicity 322573 rs753036396 17:29562956-29562956 17:31235938-31235938
37 NF1 NM_000267.3(NF1):c.6567G>A (p.Leu2189=)SNV Uncertain significance 322575 rs886052801 17:29664588-29664588 17:31337570-31337570
38 NF1 NM_000267.3(NF1):c.7462C>T (p.Pro2488Ser)SNV Uncertain significance 322577 rs886052803 17:29679342-29679342 17:31352324-31352324
39 NF1 NM_000267.3(NF1):c.*2638_*2646delinsTTATGindel Uncertain significance 322601 rs886052813 17:29703811-29703819 17:31376793-31376801
40 NF1 NM_000267.3(NF1):c.-237dupduplication Uncertain significance 322557 rs886052788 17:29422087-29422088 17:31095069-31095070
41 NF1 NM_000267.3(NF1):c.*2777C>ASNV Uncertain significance 322602 rs185015732 17:29703950-29703950 17:31376932-31376932
42 NF1 NM_000267.3(NF1):c.*3174A>CSNV Uncertain significance 322606 rs886052815 17:29704347-29704347 17:31377329-31377329
43 NF1 NM_000267.3(NF1):c.*3248G>ASNV Uncertain significance 322607 rs527971565 17:29704421-29704421 17:31377403-31377403
44 NF1 NM_000267.3(NF1):c.*3514G>CSNV Uncertain significance 322609 rs574282086 17:29704687-29704687 17:31377669-31377669
45 NF1 NM_000267.3(NF1):c.-249_-247dupduplication Uncertain significance 322555 rs886052786 17:29422076-29422077 17:31095058-31095059
46 NF1 NM_000267.3(NF1):c.-248_-247dupduplication Uncertain significance 322554 rs886052786 17:29422076-29422077 17:31095058-31095059
47 NF1 NM_000267.3(NF1):c.-242dupduplication Uncertain significance 322556 rs886052787 17:29422082-29422083 17:31095064-31095065
48 NF1 NM_000267.3(NF1):c.-173C>GSNV Uncertain significance 322561 rs886052791 17:29422155-29422155 17:31095137-31095137
49 NF1 NM_000267.3(NF1):c.-115T>CSNV Uncertain significance 322563 rs886052793 17:29422213-29422213 17:31095195-31095195
50 NF1 NM_000267.3(NF1):c.1846-8T>ASNV Uncertain significance 322571 rs886052799 17:29552105-29552105 17:31225087-31225087

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

73
# 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

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 KEGG:

36
# Name Kegg Source Accession
1 Ras signaling pathway hsa04014
2 MAPK signaling pathway hsa04010

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 PTPN11 NF1 MAP2K2
2
Show member pathways
12.05 PTPN11 NF1 MAP2K2
3
Show member pathways
12.04 PTPN11 MAP2K2
4 11.95 PTPN11 MAP2K2
5
Show member pathways
11.95 PTPN11 MAP2K2
6
Show member pathways
11.94 NF1 MAP2K2
7
Show member pathways
11.86 PTPN11 MAP2K2
8
Show member pathways
11.85 PTPN11 MAP2K2
9 11.83 PTPN11 MAP2K2
10
Show member pathways
11.82 PTPN11 MAP2K2
11
Show member pathways
11.78 PTPN11 MAP2K2
12 11.74 PTPN11 MAP2K2
13
Show member pathways
11.71 NF1 MAP2K2
14
Show member pathways
11.69 PTPN11 MAP2K2
15 11.6 NF1 MAP2K2
16 11.54 PTPN11 MAP2K2
17
Show member pathways
11.53 PTPN11 MAP2K2
18
Show member pathways
11.52 PTPN11 NF1 MAP2K2
19
Show member pathways
11.46 PTPN11 MAP2K2
20
Show member pathways
11.39 PTPN11 MAP2K2
21 11.16 NF1 MAP2K2
22 11.15 PTPN11 MAP2K2
23 11.1 PTPN11 MAP2K2
24 11.08 PTPN11 MAP2K2
25
Show member pathways
11.03 PTPN11 MAP2K2
26
Show member pathways
10.89 NF1 MAP2K2
27
Show member pathways
10.86 PTPN11 MAP2K2
28 10.85 PTPN11 NF1 MAP2K2
29 10.78 PTPN11 MAP2K2

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 activation of MAPK activity GO:0000187 8.96 PTPN11 MAP2K2
2 heart development GO:0007507 8.8 PTPN11 NF1 MAP2K2

Sources for Neurofibromatosis-Noonan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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