NFNS
MCID: NRF008
MIFTS: 50

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 57 75 53 59 74 37 29 13 55 6 40 72
Nfns 57 53 59 74
Neurofibromatosis with Noonan Phenotype 57 53
Neurofibromatosis Type 1-Noonan Syndrome 59
Noonan-Neurofibromatosis Syndrome 57
Noonan Neurofibromatosis Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 () and noonan syndrome ()


HPO:

32
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601321
KEGG 37 H02189
MESH via Orphanet 45 C537393 D009456
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C0553586 C2931482
Orphanet 59 ORPHA638
MedGen 42 C2931482
UMLS 72 C2931482

Summaries for Neurofibromatosis-Noonan Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 638DefinitionNeurofibromatosis-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 : 37
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 : 74 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 : 75 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 41)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 30.5 PTPN11 NF1
2 noonan syndrome 1 30.0 PTPN11 NF1 MAP2K2
3 leopard syndrome 29.6 PTPN11 NF1
4 pulmonic stenosis 29.0 PTPN11 NF1 MAP2K2
5 medulloblastoma 11.5
6 pseudo-turner syndrome 10.7
7 neurofibromatosis, type i 10.4
8 fibroma 10.2
9 giant cell tumor 10.2
10 pigmented villonodular synovitis 10.2
11 synovitis 10.2
12 tenosynovial giant cell tumor 10.2
13 villonodular synovitis 10.2
14 fetal hydantoin syndrome 10.2
15 ptosis 10.2
16 neurofibroma 10.2
17 hypotonia 10.2
18 rasopathy 10.2
19 migraine with or without aura 1 10.1
20 dermatitis, atopic 10.1
21 withdrawal disorder 10.1
22 contact dermatitis 10.1
23 allergic contact dermatitis 10.1
24 skin disease 10.1
25 cryptorchidism, unilateral or bilateral 10.0
26 noonan syndrome 4 10.0
27 leukemia, acute lymphoblastic 10.0
28 lymphocytic leukemia 10.0
29 leukemia 10.0
30 giant cell reparative granuloma 10.0
31 plexiform neurofibroma 10.0
32 infertility 10.0
33 learning disability 10.0
34 growth hormone deficiency 10.0
35 legius syndrome 9.7 PTPN11 NF1
36 costello syndrome 9.6 PTPN11 MAP2K2
37 cardiofaciocutaneous syndrome 1 9.6 PTPN11 MAP2K2
38 chronic myelomonocytic leukemia 9.5 PTPN11 NF1
39 neurofibromatosis, familial spinal 9.5 NF1 MIR4733 LOC105371722
40 bone marrow cancer 9.4 PTPN11 NF1
41 juvenile myelomonocytic leukemia 9.3 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:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 very rare (1%) Very frequent (99-80%) HP:0000316
2 ptosis 59 32 very rare (1%) Very frequent (99-80%) HP:0000508
3 abnormality of the helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0011039
4 short stature 59 32 very rare (1%) Very frequent (99-80%) HP:0004322
5 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
6 abdominal wall muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009023
7 webbed neck 59 32 very rare (1%) Very frequent (99-80%) HP:0000465
8 specific learning disability 59 32 very rare (1%) Very frequent (99-80%) HP:0001328
9 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
10 downslanted palpebral fissures 59 32 very rare (1%) Very frequent (99-80%) HP:0000494
11 multiple cafe-au-lait spots 59 32 very rare (1%) Very frequent (99-80%) HP:0007565
12 pulmonic stenosis 59 32 very rare (1%) Very frequent (99-80%) HP:0001642
13 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
14 abnormality of the thorax 59 32 frequent (33%) Frequent (79-30%) HP:0000765
15 cryptorchidism 59 32 very rare (1%) Frequent (79-30%) HP:0000028
16 abnormality of the lymphatic system 59 32 frequent (33%) Frequent (79-30%) HP:0100763
17 prolonged bleeding time 59 32 frequent (33%) Frequent (79-30%) HP:0003010
18 macrocephaly 32 very rare (1%) HP:0000256
19 malar flattening 32 very rare (1%) HP:0000272
20 low-set ears 32 very rare (1%) HP:0000369
21 pectus excavatum 32 very rare (1%) HP:0000767
22 intellectual disability 32 very rare (1%) HP:0001249
23 scoliosis 32 very rare (1%) HP:0002650
24 thick vermilion border 32 very rare (1%) HP:0012471
25 epicanthus 32 very rare (1%) HP:0000286
26 cubitus valgus 32 very rare (1%) HP:0002967
27 low posterior hairline 32 very rare (1%) HP:0002162
28 plexiform neurofibroma 32 very rare (1%) HP:0009732
29 lisch nodules 32 very rare (1%) HP:0009737
30 neuroblastoma 32 very rare (1%) HP:0003006
31 posteriorly rotated ears 32 very rare (1%) HP:0000358
32 axillary freckling 32 very rare (1%) HP:0000997
33 optic nerve glioma 32 very rare (1%) HP:0009734
34 short neck 32 HP:0000470
35 muscle weakness 32 HP:0001324
36 global developmental delay 32 HP:0001263
37 depressed nasal bridge 32 HP:0005280
38 delayed speech and language development 32 HP:0000750
39 abnormality of the face 59 Very frequent (99-80%)
40 midface retrusion 32 HP:0011800
41 secundum atrial septal defect 32 HP:0001684
42 prominent nasolabial fold 32 HP:0005272
43 inguinal freckling 32 HP:0030052
44 pectus excavatum of inferior sternum 32 HP:0000915
45 superior pectus carinatum 32 HP:0000917

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 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 Hormones Phase 2
5 Sodium Channel Blockers Phase 2
6 Tranquilizing Agents Phase 2
7 Diuretics, Potassium Sparing Phase 2
8 Lipid Regulating Agents Phase 2
9 L 647318 Phase 2
10 Dihydromevinolin Phase 2
11 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
12 Central Nervous System Depressants Phase 2
13 Antipsychotic Agents Phase 2
14 Hypolipidemic Agents Phase 2
15 Psychotropic Drugs Phase 2
16 Anticonvulsants Phase 2
17 Calcium, Dietary Phase 2
18 calcium channel blockers Phase 2
19 Antimetabolites Phase 2
20 Anticholesteremic Agents 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:

41
Brain, Heart, Testes, Skin, Thyroid

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 38 8 71
19845691 2009
2
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 38 8 71
16542390 2006
3
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). 38 8 71
12707950 2003
4
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. 8 71
7586657 1995
5
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 9 38 8
19449407 2009
6
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 38 8
16380919 2005
7
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 38 8
15948193 2005
8
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. 38 8
10206464 1999
9
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. 38 8
9475595 1998
10
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. 38 8
8985499 1996
11
Neurofibromatosis with fully expressed Noonan syndrome. 38 8
3135755 1988
12
Vertical transmission of the neurofibromatosis/Noonan syndrome. 38 8
3105315 1987
13
Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. 38 8
3105316 1987
14
The neurofibromatosis-Noonan syndrome. 38 8
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. 71
17160901 2007
16
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. 71
13680360 2003
17
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. 71
14569132 2003
18
Predictive identification of exonic splicing enhancers in human genes. 71
12114529 2002
19
Listening to silence and understanding nonsense: exonic mutations that affect splicing. 71
11967553 2002
20
Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. 8
8740913 1996
21
Mapping a gene for Noonan syndrome to the long arm of chromosome 12. 8
7894486 1994
22
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. 71
1568246 1992
23
Noonan phenotype associated with neurofibromatosis. 8
2411134 1985
24
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 9 38
17020470 2006
25
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 38
31088041 2019
26
High performance electronic devices based on nanofibers via a crosslinking welding process. 38
30310899 2018
27
Low-voltage and high-performance field-effect transistors based on ZnxSn1-xO nanofibers with a ZrOx dielectric. 38
30043022 2018
28
Nature-Inspired Capillary-Driven Welding Process for Boosting Metal-Oxide Nanofiber Electronics. 38
29799183 2018
29
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. 38
28971455 2017
30
Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors? 38
27107091 2016
31
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 38
26758488 2016
32
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 38
24767283 2014
33
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 38
24357598 2014
34
Multiple café au lait spots in familial patients with MAP2K2 mutation. 38
24311457 2014
35
Rasopathies - dysmorphic syndromes with short stature and risk of malignancy. 38
24156711 2013
36
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 38
23047742 2013
37
Synthesis and characterization of nickel and zinc ferrite nanocatalysts for decomposition of CO2 greenhouse effect gas. 38
23763127 2013
38
Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link. 38
23691379 2013
39
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. 38
22965773 2012
40
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. 38
22488932 2012
41
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 38
21365175 2011
42
Lethal presentation of neurofibromatosis and Noonan syndrome. 38
21567923 2011
43
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. 38
21549079 2011
44
Genetic and pathogenetic aspects of Noonan syndrome and related disorders. 38
20029240 2009
45
Asymmetric lateral inhibitory neural activity in the auditory system: a magnetoencephalographic study. 38
17509141 2007
46
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 38
17103458 2006
47
The dependence of the auditory evoked N1m decrement on the bandwidth of preceding notch-filtered noise. 38
15869488 2005
48
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. 38
15356469 2004
49
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. 38
11013475 2000
50
Neurofibromatosis-Noonan syndrome. 38
9475594 1998

Variations for Neurofibromatosis-Noonan Syndrome

ClinVar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

6 (show top 50) (show all 129)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1): c.6907C> T (p.Gln2303Ter) single nucleotide variant Pathogenic rs1131691073 17:29667571-29667571 17:31340553-31340553
2 NF1 NM_000267.3(NF1): c.6641+1G> T single nucleotide variant Pathogenic rs1060500376 17:29664899-29664899 17:31337881-31337881
3 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 17:29585518-29585518 17:31258500-31258500
4 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 17:29661945-29661945 17:31334927-31334927
5 NF1 NM_000267.3(NF1): c.2446C> T (p.Arg816Ter) single nucleotide variant Pathogenic rs886041347 17:29556079-29556079 17:31229061-31229061
6 NF1 NM_000267.3(NF1): c.2266C> T (p.Gln756Ter) single nucleotide variant Pathogenic 17:29554250-29554250 17:31227232-31227232
7 NF1 NM_000267.3(NF1): c.4480C> T (p.Gln1494Ter) single nucleotide variant Pathogenic 17:29587499-29587499 17:31260481-31260481
8 NF1 NM_000267.3(NF1): c.3870+1G> T single nucleotide variant Pathogenic 17:29562791-29562791 17:31235773-31235773
9 NF1 NM_000267.3(NF1): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs778405030 17:29533315-29533315 17:31206297-31206297
10 NF1 NM_000267.3(NF1): c.6792C> A (p.Tyr2264Ter) single nucleotide variant Pathogenic rs772295894 17:29665757-29665757 17:31338739-31338739
11 NF1 NM_000267.3(NF1): c.5719G> T (p.Glu1907Ter) single nucleotide variant Pathogenic rs786203896 17:29657486-29657486 17:31330468-31330468
12 NF1 NM_000267.3(NF1): c.5546G> A (p.Arg1849Gln) single nucleotide variant Pathogenic rs786202112 17:29654857-29654857 17:31327839-31327839
13 NF1 NM_000267.3(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 17:29562747-29562747 17:31235729-31235729
14 NF1 NM_000267.3(NF1): c.2970_2972del (p.Met992del) deletion Pathogenic rs267606606 17:29556972-29556974 17:31229954-31229956
15 NF1 NM_000267.3(NF1): c.945_946delinsAA (p.Leu316Met) indel Pathogenic rs267606609 17:29527496-29527497 17:31200478-31200479
16 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366fs) insertion Pathogenic rs267606608 17:29576122-29576123 17:31249104-31249105
17 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 17:29585419-29585419 17:31258401-31258401
18 NF1 NM_000267.3(NF1): c.7846C> T (p.Arg2616Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 17:29684326-29684326 17:31357308-31357308
19 NF1 NM_000267.3(NF1): c.5928G> A (p.Trp1976Ter) single nucleotide variant Pathogenic/Likely pathogenic rs876660696 17:29662034-29662034 17:31335016-31335016
20 NF1 NM_000267.3(NF1): c.5426G> T (p.Arg1809Leu) single nucleotide variant Pathogenic/Likely pathogenic rs771529172 17:29654737-29654737 17:31327719-31327719
21 NF1 NM_000267.3(NF1): c.3447G> T (p.Met1149Ile) single nucleotide variant Pathogenic/Likely pathogenic rs1064794277 17:29559850-29559850 17:31232832-31232832
22 NF1 NM_000267.3(NF1): c.5943+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1555534433 17:29662050-29662050 17:31335032-31335032
23 NF1 NM_000267.3(NF1): c.4309_4311GAA[1] (p.Glu1438del) short repeat Likely pathogenic rs267606607 17:29586092-29586094 17:31259074-31259076
24 NF1 NM_000267.3(NF1): c.6963G> A (p.Leu2321=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 17:29667627-29667627 17:31340609-31340609
25 NF1 NM_000267.3(NF1): c.6492G> A (p.Arg2164=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 17:29664513-29664513 17:31337495-31337495
26 NF1 NM_000267.3(NF1): c.7183C> T (p.Leu2395=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 17:29676194-29676194 17:31349176-31349176
27 NF1 NM_000267.3(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 17:29562948-29562948 17:31235930-31235930
28 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 17:29685632-29685632 17:31358614-31358614
29 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 17:29496957-29496957 17:31169939-31169939
30 NF1 NM_000267.3(NF1): c.4788A> G (p.Gln1596=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 17:29652853-29652853 17:31325835-31325835
31 NF1 NM_000267.3(NF1): c.4686A> G (p.Glu1562=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 17:29592271-29592271 17:31265253-31265253
32 NF1 NM_000267.3(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 17:29550550-29550550 17:31223532-31223532
33 NF1 NM_000267.3(NF1): c.8436T> C (p.Asn2812=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 17:29701152-29701152 17:31374134-31374134
34 NF1 NM_000267.3(NF1): c.730+16dup duplication Conflicting interpretations of pathogenicity rs373999174 17:29508819-29508819 17:31181801-31181801
35 NF1 NM_000267.3(NF1): c.4661+11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368649260 17:29588886-29588886 17:31261868-31261868
36 NF1 NM_000267.3(NF1): c.3891A> G (p.Leu1297=) single nucleotide variant Conflicting interpretations of pathogenicity rs753036396 17:29562956-29562956 17:31235938-31235938
37 NF1 NM_000267.3(NF1): c.6567G> A (p.Leu2189=) single nucleotide variant Uncertain significance rs886052801 17:29664588-29664588 17:31337570-31337570
38 NF1 NM_000267.3(NF1): c.7462C> T (p.Pro2488Ser) single nucleotide variant Uncertain significance rs886052803 17:29679342-29679342 17:31352324-31352324
39 NF1 NM_000267.3(NF1): c.*859_*860AT[9] short repeat Uncertain significance rs369548314 17:29702046-29702047 17:31375028-31375029
40 NF1 NM_000267.3(NF1): c.*1446T> C single nucleotide variant Uncertain significance rs886052809 17:29702619-29702619 17:31375601-31375601
41 NF1 NM_000267.3(NF1): c.*2132T> C single nucleotide variant Uncertain significance rs551806545 17:29703305-29703305 17:31376287-31376287
42 NF1 NM_000267.3(NF1): c.*2566C> T single nucleotide variant Uncertain significance rs545937364 17:29703739-29703739 17:31376721-31376721
43 NF1 NM_000267.3(NF1): c.*2884T> A single nucleotide variant Uncertain significance rs886052814 17:29704057-29704057 17:31377039-31377039
44 NF1 NM_000267.3(NF1): c.*3091A> C single nucleotide variant Uncertain significance rs570154156 17:29704264-29704264 17:31377246-31377246
45 NF1 NM_000267.3(NF1): c.*3266G> A single nucleotide variant Uncertain significance rs548117626 17:29704439-29704439 17:31377421-31377421
46 NF1 NM_000267.3(NF1): c.*3174A> C single nucleotide variant Uncertain significance rs886052815 17:29704347-29704347 17:31377329-31377329
47 NF1 NM_000267.3(NF1): c.*3248G> A single nucleotide variant Uncertain significance rs527971565 17:29704421-29704421 17:31377403-31377403
48 NF1 NM_000267.3(NF1): c.*3514G> C single nucleotide variant Uncertain significance rs574282086 17:29704687-29704687 17:31377669-31377669
49 NF1 NM_000267.3(NF1): c.-249_-247dup duplication Uncertain significance rs886052786 17:29422079-29422081 17:31095061-31095063
50 NF1 NM_000267.3(NF1): c.-248_-247dup duplication Uncertain significance rs886052786 17:29422080-29422081 17:31095062-31095063

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

74
# 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:

37
# 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 PTPN11 NF1 MAP2K2
2 11.82 PTPN11 MAP2K2
3
Show member pathways
11.81 PTPN11 MAP2K2
4
Show member pathways
11.77 PTPN11 MAP2K2
5 11.74 PTPN11 MAP2K2
6
Show member pathways
11.71 NF1 MAP2K2
7
Show member pathways
11.69 PTPN11 MAP2K2
8 11.58 NF1 MAP2K2
9
Show member pathways
11.57 PTPN11 MAP2K2
10
Show member pathways
11.52 PTPN11 NF1 MAP2K2
11 11.5 PTPN11 MAP2K2
12
Show member pathways
11.5 PTPN11 MAP2K2
13
Show member pathways
11.41 PTPN11 MAP2K2
14
Show member pathways
11.26 NF1 MAP2K2
15 11.11 NF1 MAP2K2
16 11.08 PTPN11 MAP2K2
17 11.01 PTPN11 MAP2K2
18 10.97 PTPN11 MAP2K2
19
Show member pathways
10.88 PTPN11 MAP2K2
20 10.85 PTPN11 NF1 MAP2K2
21
Show member pathways
10.82 PTPN11 MAP2K2
22 10.67 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 8.62 PTPN11 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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