NFNS
MCID: NRF008
MIFTS: 79

Neurofibromatosis-Noonan Syndrome (NFNS)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

MalaCards integrated aliases for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 57 11 19 19 58 75 73 28 12 53 5 43 14 38 71
Nfns 57 11 19 58 73
Neurofibromatosis Type 1 19 42 58 53
Neurofibromatosis with Noonan Phenotype 57 11 19
Von Recklinghausen Disease 19 42 58
Neurofibromatosis Type 1-Noonan Syndrome 11 58
Noonan Neurofibromatosis Syndrome 11 19
Recklinghausen's Disease 19 5
Nf1 19 42
Disseminated Nonossifying Fibromas in Association with Cafe-Au-Lait Spots 19
Fibromatosis Multiple Non Ossifying 19
Nonmosaic Neurofibromatosis Type 1 58
Noonan-Neurofibromatosis Syndrome 57
Recklinghausen Disease, Nerve 42
Peripheral Neurofibromatosis 42
Jaffe Campanacci Syndrome 19
Jaffe-Campanacci Syndrome 71
Type 1 Neurofibromatosis 19
Neurofibromatosis 1 42
Nonmosaic Nf1 58

Characteristics:


Inheritance:

Neurofibromatosis-Noonan Syndrome: Autosomal dominant 58 57
Neurofibromatosis Type 1: Autosomal dominant 58

Prevelance:

Neurofibromatosis Type 1: 1-5/10000 (United Kingdom, Finland, New Zealand, Europe, United States, United Kingdom, Worldwide, Finland, Sweden) 1-9/100000 (Canada) 58

Age Of Onset:

Neurofibromatosis-Noonan Syndrome: Infancy,Neonatal 58
Neurofibromatosis Type 1: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 and noonan syndrome


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare cardiac malformations
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111683
OMIM® 57 601321
MeSH 43 C537393
SNOMED-CT 68 715344006
MESH via Orphanet 44 C537393 C538607 D009456
ICD10 via Orphanet 32 Q85.0 Q87.1
UMLS via Orphanet 72 C0027831 C0553586 C2931482
Orphanet 58 ORPHA636 ORPHA638
MedGen 40 C2931482
UMLS 71 C0796000 C2931482

Summaries for Neurofibromatosis-Noonan Syndrome

MedlinePlus Genetics: 42 Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.Additional signs and symptoms of neurofibromatosis type 1 vary, but they can include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention-deficit/hyperactivity disorder (ADHD) occur frequently in affected individuals.

MalaCards based summary: Neurofibromatosis-Noonan Syndrome, also known as nfns, is related to legius syndrome and pilocytic astrocytoma. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Disease and Signal Transduction. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord, and related phenotypes are ptosis and hypertelorism

Orphanet 58 Neurofibromatosis-noonan syndrome: 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 café-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 café-au-lait spots are present in patients diagnosed with NS).

Neurofibromatosis type 1: Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

GARD: 19 Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.

Disease Ontology: 11 A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has material basis in heterozygous mutation in NF1 on chromosome 17q11.2.

UniProtKB/Swiss-Prot: 73 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 top 50) (show all 1501)
# Related Disease Score Top Affiliating Genes
1 legius syndrome 32.4 SPRED1 NF1 HRAS
2 pilocytic astrocytoma 32.0 SOS1 PTPN11 NF1 HRAS
3 gastrointestinal stromal tumor 31.9 NF1 MAP2K1 HRAS EWSR1
4 plexiform neurofibroma 31.6 SPRED1 NF1 MAP2K1 LZTR1 HRAS
5 lipomatosis, multiple 31.6 SPRED1 NF1 EWSR1
6 skin benign neoplasm 31.5 NF1 HRAS EWSR1
7 pulsating exophthalmos 31.5 SPRED1 NF1
8 moyamoya disease 1 31.5 SPRED1 SHOC2 NF1
9 peripheral nerve schwannoma 31.5 NF1 LZTR1
10 atypical neurofibroma 31.5 NF1 LZTR1
11 optic nerve sheath meningioma 31.5 NF1 LZTR1
12 plexiform schwannoma 31.4 NF1 LZTR1
13 epithelioid malignant peripheral nerve sheath tumor 31.4 NF1 EWSR1
14 optic nerve neoplasm 31.4 SPRED1 NF1 LZTR1
15 meningioma, familial 31.4 SPRED1 NF1 LZTR1 HRAS EWSR1
16 conjunctival nevus 31.3 NF1 HRAS
17 malignant spindle cell melanoma 31.3 RASA2 NF1 HRAS
18 neuroma 31.3 SOS1 NF1 LZTR1
19 malignant dermis tumor 31.3 SPRED1 NF1 HRAS
20 vulvar melanoma 31.3 SPRED1 NF1 HRAS
21 malignant skin fibrous histiocytoma 31.3 SPRED1 NF1 HRAS
22 keratosis pilaris atrophicans faciei 31.3 SOS1 PTPN11 NF1 MAP2K1
23 spinal canal and spinal cord meningioma 31.3 NF1 LZTR1
24 neurilemmomatosis 31.3 SPRED1 NF1 MRAS LZTR1
25 optic nerve glioma 31.3 SPRED1 NF1
26 giant cell glioblastoma 31.3 NF1 LZTR1 HRAS
27 schimmelpenning-feuerstein-mims syndrome 31.3 SOS1 NF1 HRAS
28 non-langerhans-cell histiocytosis 31.3 NF1 MAP2K1 HRAS
29 skeletal muscle cancer 31.3 NF1 HRAS EWSR1
30 muscle cancer 31.2 NF1 HRAS EWSR1
31 spinal meningioma 31.2 NF1 LZTR1
32 embryonal rhabdomyosarcoma 31.2 NF1 HRAS EWSR1
33 mucosal melanoma 31.2 SPRED1 NF1 MAP2K1 HRAS
34 myelodysplastic/myeloproliferative neoplasm 31.2 SOS1 PTPN11 NF1 HRAS
35 arteriovenous malformation 31.1 RASA2 NF1 MAP2K1 HRAS
36 acral lentiginous melanoma 31.1 NF1 HRAS
37 rhabdomyosarcoma 31.0 SOS1 PTPN11 NF1 MAP2K2 MAP2K1 HRAS
38 skin granular cell tumor 30.9 SPRED1 SOS1 SHOC2 PTPN11 NF1 MAP2K2
39 villonodular synovitis 30.6 SOS1 PTPN11
40 neurofibromatosis 30.6 SPRED1 SOS1 RASA2 PTPN11 NF1 LZTR1
41 neurofibroma 30.5 SPRED1 RASA2 NF1
42 inherited cancer-predisposing syndrome 30.5 PTPN11 NF1 LZTR1 LOC111811965
43 bap1 tumor predisposition syndrome 30.5 PTPN11 NF1 LZTR1 LOC111811965
44 juvenile myelomonocytic leukemia 30.5 SPRED1 SOS2 SOS1 SHOC2 RASA2 PTPN11
45 pigmented villonodular synovitis 30.5 SOS1 PTPN11
46 ptosis 30.4 SOS1 SHOC2 PTPN11 PPP1CB
47 heart septal defect 30.3 SOS1 SHOC2 PTPN11
48 neurofibromatosis, type i 30.0 SPRED1 SOS1 RASA2 PTPN11 NF1 MAP2K1
49 patent ductus arteriosus 1 30.0 SOS1 SHOC2 PTPN11
50 skin melanoma 29.9 MAP2K2 MAP2K1 HRAS

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 30 (show top 50) (show all 108)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000508
2 hypertelorism 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000316
3 short stature 58 30 Very rare (1%) Occasional (29-5%)
Very frequent (99-80%)
HP:0004322
4 webbed neck 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000465
5 specific learning disability 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001328
6 hypertrophic cardiomyopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001639
7 downslanted palpebral fissures 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000494
8 multiple cafe-au-lait spots 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0007565
9 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
10 pulmonic stenosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001642
11 abdominal wall muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009023
12 abnormal helix morphology 30 Hallmark (90%) HP:0011039
13 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
14 cryptorchidism 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0000028
15 abnormality of the lymphatic system 58 30 Frequent (33%) Frequent (79-30%)
HP:0100763
16 prolonged bleeding time 58 30 Frequent (33%) Frequent (79-30%)
HP:0003010
17 abnormal thorax morphology 30 Frequent (33%) HP:0000765
18 macrocephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000256
19 scoliosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0002650
20 plexiform neurofibroma 58 30 Very rare (1%) Very frequent (99-80%)
HP:0009732
21 lisch nodules 58 30 Very rare (1%) Very frequent (99-80%)
HP:0009737
22 intellectual disability 30 Very rare (1%) HP:0001249
23 thick vermilion border 30 Very rare (1%) HP:0012471
24 cubitus valgus 30 Very rare (1%) HP:0002967
25 low-set ears 30 Very rare (1%) HP:0000369
26 low posterior hairline 30 Very rare (1%) HP:0002162
27 epicanthus 30 Very rare (1%) HP:0000286
28 pectus excavatum 30 Very rare (1%) HP:0000767
29 malar flattening 30 Very rare (1%) HP:0000272
30 neuroblastoma 30 Very rare (1%) HP:0003006
31 posteriorly rotated ears 30 Very rare (1%) HP:0000358
32 axillary freckling 30 Very rare (1%) HP:0000997
33 optic nerve glioma 30 Very rare (1%) HP:0009734
34 seizure 58 Occasional (29-5%)
35 neurological speech impairment 58 Frequent (79-30%)
36 ataxia 58 Frequent (79-30%)
37 kyphosis 58 Occasional (29-5%)
38 hydrocephalus 58 Occasional (29-5%)
39 short neck 30 HP:0000470
40 hypertension 58 Occasional (29-5%)
41 precocious puberty 58 Occasional (29-5%)
42 muscle weakness 30 HP:0001324
43 hearing impairment 58 Frequent (79-30%)
44 cataract 58 Occasional (29-5%)
45 global developmental delay 30 HP:0001263
46 skeletal dysplasia 58 Frequent (79-30%)
47 depressed nasal bridge 30 HP:0005280
48 corneal opacity 58 Occasional (29-5%)
49 abnormality of the helix 58 Very frequent (99-80%)
50 delayed speech and language development 30 HP:0000750

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

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

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus

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

Skeletal Spine:
scoliosis

Head And Neck Neck:
short neck
webbed neck

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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 (Updated 08-Dec-2022)

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

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.05 EWSR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.05 TUBB2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.05 SOS2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.05 SOS1 SOS2 TUBB2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.05 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.05 SOS2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.05 SOS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.05 SOS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.05 EWSR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.05 SOS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.05 EWSR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.05 SOS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.05 EWSR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-203 10.05 EWSR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.05 TUBB2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.05 EWSR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.05 SOS2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.05 TUBB2A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.05 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.05 SOS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.05 EWSR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.05 SOS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.05 EWSR1
24 Reduced mammosphere formation GR00396-S 9.23 ERG HRAS PPP1CB PTPN11 SHOC2 SOS1

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.02 ERG EWSR1 HRAS MAP2K1 MAP2K2 MRAS
2 endocrine/exocrine gland MP:0005379 9.96 ERG EWSR1 HRAS MAP2K1 MAP2K2 NF1
3 neoplasm MP:0002006 9.91 ERG EWSR1 HRAS MAP2K1 MAP2K2 NF1
4 craniofacial MP:0005382 9.76 HRAS LZTR1 MAP2K1 MAP2K2 NF1 PTPN11
5 skeleton MP:0005390 9.65 ERG EWSR1 HRAS LZTR1 MAP2K1 MAP2K2
6 integument MP:0010771 9.36 ERG EWSR1 HRAS MAP2K1 MAP2K2 NF1

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

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

(show top 50) (show all 145)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760
4 Central Nervous System Stimulants Phase 4
5 Dopamine Uptake Inhibitors Phase 4
6 Dopamine Agents Phase 4
7 Neurotransmitter Agents Phase 4
8
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
9
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
10
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
11
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 2, Phase 3 55-56-1 2713 9552079
12
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
13 Antimitotic Agents Phase 3
14 Tubulin Modulators Phase 3
15 Hormones Phase 2, Phase 3
16 Calcium, Dietary Phase 2, Phase 3
17 Antipsychotic Agents Phase 2, Phase 3
18 Sodium Channel Blockers Phase 2, Phase 3
19 Psychotropic Drugs Phase 2, Phase 3
20 Anticonvulsants Phase 2, Phase 3
21 calcium channel blockers Phase 2, Phase 3
22 Chlorhexidine gluconate Phase 2, Phase 3
23 Diuretics, Potassium Sparing Phase 2, Phase 3
24
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
27
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
28
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
29
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
30
Vinblastine Approved Phase 2 865-21-4 241903 13342
31
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
32
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
33
Etoposide Approved Phase 2 33419-42-0 36462
34
Lenograstim Approved, Investigational Phase 2 135968-09-1
35
Ifosfamide Approved Phase 2 3778-73-2 3690
36
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
37
Diclofenac Approved, Vet_approved Phase 2 15307-86-5, 15307-79-6 3033
38
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
39
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908
40
Lactitol Approved, Investigational Phase 2 585-86-4 157355
41
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
42
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
43
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
44
Aminolevulinic acid Approved Phase 2 106-60-5 137
45
Caffeine Approved Phase 2 58-08-2 2519
46
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
47
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
48
Trametinib Approved Phase 2 871700-17-3 11707110
49
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
50
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812

Interventional clinical trials:

(show top 50) (show all 191)
# Name Status NCT ID Phase Drugs
1 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
2 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
3 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Completed NCT02471339 Phase 3
4 A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG) Recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
5 A Phase 3 Randomized Non-Inferiority Study of Carboplatin and Vincristine Versus Selumetinib (NSC# 748727) in Newly Diagnosed or Previously Untreated Low-Grade Glioma (LGG) Not Associated With BRAFV600E Mutations or Systemic Neurofibromatosis Type 1 (NF1) Recruiting NCT04166409 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
6 A Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET) Recruiting NCT04924608 Phase 3 Selumetinib
7 A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants With Progressive NF2 Mutated Meningiomas Recruiting NCT05130866 Phase 2, Phase 3 REC-2282;Placebo
8 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Terminated NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
9 A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I Terminated NCT04461886 Phase 3 NPC-12G gel
10 Medical Treatment of "High-Risk" Neurofibromas in Patients With Type 1 Neurofibromatosis: A Clinical Trial of Sequential Medical Therapies Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
11 A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults With NF1-Associated Morbid Plexiform Neurofibromas Completed NCT02096471 Phase 2 PD-0325901
12 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
13 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
14 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
15 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
16 Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated High Grade Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
17 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
18 Clinical Assessment of the Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With Neurofibromatosis Type 1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
19 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
20 Phase 2 Study of the mTOR Inhibitor Everolimus in Combination With Bevacizumab in Patients With Sporadic and Neurofibromatosis Type 1 (NF1) Related Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
21 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
22 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2a Study to Determine Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Activity of NFX-179 Gel in Subjects With Cutaneous Neurofibromas Completed NCT04435665 Phase 2 NFX-179 Gel;Vehicle Gel
23 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
24 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
25 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
26 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
27 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
28 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
29 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
30 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
31 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
32 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
33 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
34 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Completed NCT01767792 Phase 2 Bevacizumab
35 A Single Arm, Single Center, Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Completed NCT01490476 Phase 2 RAD001
36 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02934256 Phase 2 Icotinib
37 A Single Arm Phase 2 Study of the Dual mTORC1/mTORC2 Inhibitor AZD2014 Provided on an Intermittent Schedule for Neurofibromatosis 2 Patients With Progressive or Symptomatic Meningiomas Completed NCT02831257 Phase 2 AZD2014
38 Phase I/II Trial of Dabrafenib, Trametinib, and Hydroxychloroquine (HCQ) for BRAF V600E-mutant or Trametinib and HCQ for BRAF Fusion/Duplication Positive or NF1-associated Recurrent or Progressive Gliomas in Children and Young Adults Recruiting NCT04201457 Phase 1, Phase 2 Dabrafenib;Trametinib;Hydroxychloroquine
39 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
40 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
41 A Phase I/II, Single-Arm, Open Label Study to Evaluate the Pharmacokinetics, Safety/Tolerability and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With Neurofibromatosis Type 1 (NF1) Related Symptomatic, Inoperable Plexiform Neurofibromas (PN) (SPRINKLE) Recruiting NCT05309668 Phase 1, Phase 2 Selumetinib granule formulation;Selumetinib capsule formulation
42 A Phase 2 Study of the MEK Inhibitor Trametinib (NSC# 763093) in Children With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
43 A Phase I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas Recruiting NCT04750928 Phase 1, Phase 2 Abemaciclib
44 Antioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1 Recruiting NCT04481048 Phase 2 N-Acetyl cysteine
45 A Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the Treatment of Adult Participants With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT05331105 Phase 2 HL-085
46 A Multi-center, Open-label, Single-arm Phase I Dose-escalation and Phase II Dose-expansion Study to Evaluate the Safety, Tolerability, PK Characteristics and Anti-tumor Activity of FCN-159 in Adult and Pediatric Participants With Neurofibromatosis Type 1 Recruiting NCT04954001 Phase 1, Phase 2 FCN-159
47 A Phase II Trial of Poly-ICLC for Progressive, Previously Treated Low-Grade Gliomas in Children and Young Adults With Neurofibromatosis Type 1 Recruiting NCT04544007 Phase 2 Poly ICLC
48 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
49 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2 Dose-Response Study to Determine Safety and Effectiveness of Two Concentrations of NFX-179 Gel in Subjects With Cutaneous Neurofibromas Recruiting NCT05005845 Phase 2 NFX-179 gel;Vehicle gel
50 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib;Neratinib

Search NIH Clinical Center for Neurofibromatosis-Noonan Syndrome

Cochrane evidence based reviews: 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

Organs/tissues related to Neurofibromatosis-Noonan Syndrome:

MalaCards : Skin, Eye, Spinal Cord, Bone, Brain, Heart, Small Intestine

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show top 50) (show all 9457)
# Title Authors PMID Year
1
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 53 62 57 5
19449407 2009
2
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 62 57 5
19845691 2009
3
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 62 57 5
16542390 2006
4
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 62 57 5
16380919 2005
5
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 62 57 5
15948193 2005
6
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). 62 57 5
12707950 2003
7
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. 62 57 5
9475595 1998
8
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. 62 57 5
7586657 1995
9
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq. 62 5
34782607 2021
10
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients. 62 5
33877690 2021
11
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants. 62 5
33443663 2021
12
[Genetic analysis of a child with global developmental delay and neurofibromatosis type 1]. 62 5
32761593 2020
13
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. 62 5
32107864 2020
14
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules. 62 5
31573083 2020
15
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. 62 5
31595648 2020
16
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types. 62 5
31776437 2020
17
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. 62 5
31766501 2019
18
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1. 62 5
31730495 2019
19
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children. 62 5
31717729 2019
20
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST). 62 5
31397088 2019
21
Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1. 62 5
31533651 2019
22
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients. 62 5
31533797 2019
23
Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1. 62 5
31347283 2019
24
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1. 62 5
31201679 2019
25
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 62 5
31370276 2019
26
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. 62 5
30190611 2019
27
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation. 62 5
30530636 2019
28
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA. 62 5
30308447 2018
29
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis. 62 5
30290804 2018
30
Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1. 62 5
29849115 2018
31
[Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1]. 62 5
30098238 2018
32
Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1. 62 5
30046999 2018
33
Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient. 62 5
29952103 2018
34
Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours. 62 5
29680440 2018
35
[A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis]. 62 5
30124220 2018
36
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1. 62 5
29914388 2018
37
Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA. 62 5
29522274 2018
38
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. 62 5
29449315 2018
39
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1. 62 5
29618358 2018
40
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. 62 5
29673180 2018
41
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? 62 5
29566708 2018
42
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study. 62 5
29415745 2018
43
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer. 62 5
28891274 2018
44
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. 62 5
30001348 2018
45
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 62 5
29290338 2018
46
Children with 5'-end NF1 gene mutations are more likely to have glioma. 62 5
28955729 2017
47
Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report. 62 5
29082380 2017
48
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes. 62 5
28529006 2017
49
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience. 62 5
28422438 2017
50
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia. 62 5
27980226 2017

Variations for Neurofibromatosis-Noonan Syndrome

ClinVar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

5 (show top 50) (show all 8561)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.4546G>T (p.Glu1516Ter) SNV Pathogenic
216064 rs786203390 GRCh37: 17:29587502-29587502
GRCh38: 17:31260484-31260484
2 NF1 NM_000267.3(NF1):c.3496+57_4772+2639dup DUP Pathogenic
217111 GRCh37: 17:29559956-29594996
GRCh38: 17:31232938-31267978
3 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.655-60_888+5621delins135 INDEL Pathogenic
217051 GRCh37: 17:29508668-29515304
GRCh38: 17:31181650-31188286
4 NF1 NM_000267.3(NF1):c.1527+443_3709-761dup DUP Pathogenic
217108 GRCh37: 17:29542046-29561868
GRCh38: 17:31215028-31234850
5 NF1 NM_001042492.3(NF1):c.7970+149_8160+723dup DUP Pathogenic
217114 GRCh37: 17:29684534-29684535
GRCh38: 17:31357516-31357517
6 NF1 NM_000267.3(NF1):c.4773-23713_7907+14del DEL Pathogenic
217088 GRCh37:
GRCh38:
7 NF1 NM_001042492.3(NF1):c.1846-496_2410-645delinsTAGC INDEL Pathogenic
217068 GRCh37: 17:29551617-29555398
GRCh38: 17:31224599-31228380
8 NF1 NM_000267.3(NF1):c.587-282_8315-3687del DEL Pathogenic
217050 GRCh37:
GRCh38:
9 NF1 NM_000267.3(NF1):c.5943+448_7127-414del DEL Pathogenic
217099 GRCh37: 17:29662497-29675724
GRCh38: 17:31335479-31348706
10 NF1 NM_001042492.3(NF1):c.2410-110_2850+65delinsAAAA INDEL Pathogenic
217073 rs1555614169 GRCh37: 17:29555933-29556548
GRCh38: 17:31228915-31229530
11 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.4773-1597_7395-685dup DUP Pathogenic
217113 GRCh37: 17:29651241-29678590
GRCh38: 17:31324223-31351572
12 NF1 NM_001042492.3(NF1):c.889-453_908del DEL Pathogenic
217053 rs1555610774 GRCh37: 17:29526983-29527455
GRCh38: 17:31199965-31200437
13 NF1 NM_000267.3(NF1):c.3709-266_7259-397delinsCAG INDEL Pathogenic
217076 GRCh37:
GRCh38:
14 NF1 and overlap with 2 gene(s) NM_000267.3(NF1):c.61-12088_204+933del DEL Pathogenic
217033 GRCh37: 17:29470913-29484077
GRCh38: 17:31143895-31157059
15 NF1 NM_001042492.3(NF1):c.889-894_1261-284del DEL Pathogenic
217056 GRCh37: 17:29526546-29532974
GRCh38: 17:31199528-31205956
16 NF1 and overlap with 2 gene(s) NM_000267.3(NF1):c.4773-22561_6311del DEL Pathogenic
217085 GRCh37: 17:29630277-29663879
GRCh38: 17:31303259-31336861
17 NF1 NM_000267.3(NF1):c.889-8381_6757-5del DEL Pathogenic
217059 GRCh37:
GRCh38:
18 NF1 NM_001042492.3(NF1):c.1527+1509_1641+1137del DEL Pathogenic
217065 GRCh37: 17:29543111-29547272
GRCh38: 17:31216093-31220254
19 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.288+230_480-1812delins323 INDEL Pathogenic
217039 GRCh37: 17:29486341-29495097
GRCh38: 17:31159323-31168079
20 NF1 NM_001042492.3(NF1):c.1393-2652_1528-892del DEL Pathogenic
217062 GRCh37: 17:29538815-29545129
GRCh38: 17:31211797-31218111
21 NF1 NM_000267.3:c.3975-364_4515-510indel810 DEL Pathogenic
217079 GRCh37:
GRCh38:
22 NF1 and overlap with 1 gene(s) NM_001042492.3(NF1):c.7458-600_7615+735del DEL Pathogenic
217102 GRCh37: 17:29678649-29680141
GRCh38: 17:31351631-31353123
23 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.289-1237_586+3325del DEL Pathogenic
217042 GRCh37: 17:29488967-29500340
GRCh38: 17:31161949-31173322
24 NF1 and overlap with 2 gene(s) NM_000267.3(NF1):c.4662-397_4773-14262del DEL Pathogenic
217082 GRCh37: 17:29591850-29638576
GRCh38: 17:31264832-31311558
25 NF1 NM_001042492.3(NF1):c.61-6522_204+1022dup DUP Pathogenic
217105 GRCh37: 17:29476478-29476479
GRCh38: 17:31149460-31149461
26 NF1 NM_001042492.3(NF1):c.2298_2304del (p.Glu767fs) DEL Pathogenic
188217 rs786204154 GRCh37: 17:29554278-29554284
GRCh38: 17:31227260-31227266
27 NF1 NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) SNV Pathogenic
188220 rs786204157 GRCh37: 17:29586057-29586057
GRCh38: 17:31259039-31259039
28 NF1 NM_001042492.3(NF1):c.3494T>A (p.Ile1165Lys) SNV Pathogenic
188312 rs786204211 GRCh37: 17:29559897-29559897
GRCh38: 17:31232879-31232879
29 NF1 NM_001042492.3(NF1):c.3139_3140del (p.Asp1047fs) DEL Pathogenic
216063 rs863224490 GRCh37: 17:29557884-29557885
GRCh38: 17:31230866-31230867
30 NF1 NM_001042492.3(NF1):c.1059del (p.Lys354fs) DEL Pathogenic
216060 rs863224488 GRCh37: 17:29527609-29527609
GRCh38: 17:31200591-31200591
31 NF1 NM_001042492.3(NF1):c.1738dup (p.Tyr580fs) DUP Pathogenic
188397 rs786204255 GRCh37: 17:29550472-29550473
GRCh38: 17:31223454-31223455
32 NF1 NM_001042492.3(NF1):c.7797dup (p.Glu2600Ter) DUP Pathogenic
216867 rs863224837 GRCh37: 17:29684035-29684036
GRCh38: 17:31357017-31357018
33 NF1 NM_001042492.3(NF1):c.1094C>A (p.Ser365Ter) SNV Pathogenic
219467 rs864622107 GRCh37: 17:29528086-29528086
GRCh38: 17:31201068-31201068
34 NF1 NM_001042492.3(NF1):c.5813-1086_6006+244del DEL Pathogenic
217093 GRCh37: 17:29660768-29662291
GRCh38: 17:31333750-31335273
35 NF1 NM_000267.3(NF1):c.60+3120_3975-326del DEL Pathogenic
217036 GRCh37:
GRCh38:
36 NF1 NM_000267.3(NF1):c.5749+6_6858+633delins130 INDEL Pathogenic
217096 GRCh37: 17:29657522-29666456
GRCh38: 17:31330504-31339438
37 NF1 NM_000267.3:c.5547-961+5943+244del DEL Pathogenic
217090 GRCh37:
GRCh38:
38 NF1 NM_000267.3(NF1):c.1641+156_3975-2222del DEL Pathogenic
217067 GRCh37: 17:29546292-29573780
GRCh38: 17:31219274-31246762
39 NF1 NM_000267.3(NF1):c.4941_7127-2901del DEL Pathogenic
217087 GRCh37: 17:29653006-29673237
GRCh38: 17:31325988-31346219
40 NF1 NM_000267.3(NF1):c.1393-3329_3975-6377del DEL Pathogenic
217064 GRCh37: 17:29538140-29569625
GRCh38: 17:31211122-31242607
41 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.586+2095_1261-2276delinsGTGG INDEL Pathogenic
217047 GRCh37: 17:29499110-29530982
GRCh38: 17:31172092-31203964
42 NF1 NM_000267.3(NF1):c.1393-1905_2251+85dup DUP Pathogenic
217107 GRCh37: 17:29539564-29553787
GRCh38: 17:31212546-31226769
43 NF1 NM_000267.3(NF1):c.4515-343_8314+3380del DEL Pathogenic
217084 GRCh37:
GRCh38:
44 NF1 NM_001042492.3(NF1):c.2851-151_2990+121dup DUP Pathogenic
217110 rs1555614386 GRCh37: 17:29556697-29556698
GRCh38: 17:31229679-31229680
45 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.480-2832_888+5938delinsTTGAA INDEL Pathogenic
217044 GRCh37: 17:29494077-29515621
GRCh38: 17:31167059-31188603
46 NF1 NM_000267.3(NF1):c.1845+537_4661+331del DEL Pathogenic
217070 GRCh37: 17:29551122-29589206
GRCh38: 17:31224104-31262188
47 NF1 and overlap with 1 gene(s) NM_000267.3(NF1):c.289-950_586+3043del DEL Pathogenic
217041 GRCh37: 17:29489254-29500058
GRCh38: 17:31162236-31173040
48 NF1 and overlap with 1 gene(s) NM_001042492.3(NF1):c.7321+383_7925del DEL Pathogenic
217101 GRCh37: 17:29676650-29684340
GRCh38: 17:31349632-31357322
49 NF1 NM_000267.3(NF1):c.1260+220_7553-1095del DEL Pathogenic
217061 GRCh37:
GRCh38:
50 NF1 NM_000267.3(NF1):c.204+155_2990+53del DEL Pathogenic
217038 GRCh37:
GRCh38:

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

Cosmic variations for Neurofibromatosis-Noonan Syndrome:

8 (show top 50) (show all 19955)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85192834 ZW10 central nervous system,brain,glioma,NS c.2140C>T p.P714S 11:113736699-113736699 3
2 COSM86922763 ZSWIM4 central nervous system,brain,glioma,NS c.266C>T p.P89L 19:13799832-13799832 3
3 COSM88263742 ZRSR2 central nervous system,brain,glioma,NS c.340C>T p.Q114* 23:15804138-15804138 3
4 COSM88261602 ZRSR2 central nervous system,brain,glioma,NS c.961C>T p.P321S 23:15822754-15822754 3
5 COSM88263021 ZRSR2 central nervous system,brain,glioma,NS c.260G>A p.R87K 23:15803744-15803744 3
6 COSM88261596 ZRSR2 central nervous system,brain,glioma,NS c.271G>A p.E91K 23:15803755-15803755 3
7 COSM88262556 ZRSR2 central nervous system,brain,glioma,NS c.220G>A p.E74K 23:15803704-15803704 3
8 COSM87830624 ZPLD1 central nervous system,brain,glioma,NS c.393A>T p.G131= 3:102456210-102456210 3
9 COSM119316158 ZPLD1 central nervous system,brain,glioma,NS c.345A>T p.G115= 3:102456210-102456210 3
10 COSM116178212 ZPLD1 central nervous system,brain,glioma,NS c.345A>T p.G115= 3:102456210-102456210 3
11 COSM106156998 ZNF697 central nervous system,brain,glioma,NS c.1550G>A p.G517D 1:119622793-119622793 3
12 COSM93171584 ZNF687 central nervous system,brain,glioma,NS c.3651C>T p.T1217= 1:151291146-151291146 3
13 COSM93173649 ZNF687 central nervous system,brain,glioma,NS c.2044T>A p.C682S 1:151288335-151288335 3
14 COSM93173639 ZNF687 central nervous system,brain,glioma,NS c.2043G>C p.Q681H 1:151288334-151288334 3
15 COSM92762364 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 19:32354347-32354347 3
16 COSM91851905 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 19:32354347-32354347 3
17 COSM130988554 ZNF507 central nervous system,brain,glioma,NS c.1517G>C p.R506T 19:32354347-32354347 3
18 COSM141250987 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14= 19:50039193-50039193 3
19 COSM84172269 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14= 19:50039193-50039193 3
20 COSM141790125 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14= 19:50039193-50039193 3
21 COSM99924035 ZNF473 central nervous system,brain,glioma,NS c.42C>T p.D14= 19:50039193-50039193 3
22 COSM111538647 ZNF473 central nervous system,brain,glioma,NS c.6C>T p.D2= 19:50039193-50039193 3
23 COSM84507966 ZNF276 central nervous system,brain,glioma,NS c.*664G>A p.? 16:89738910-89738910 3
24 COSM102909520 ZMYND8 central nervous system,brain,glioma,NS c.2116G>A p.D706N 20:47246116-47246116 3
25 COSM116582422 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 20:47246116-47246116 3
26 COSM92864918 ZMYND8 central nervous system,brain,glioma,NS c.2102T>G p.V701G 20:47246130-47246130 3
27 COSM111370233 ZMYND8 central nervous system,brain,glioma,NS c.2116G>A p.D706N 20:47246116-47246116 3
28 COSM91410147 ZMYND8 central nervous system,brain,glioma,NS c.2116G>A p.D706N 20:47246116-47246116 3
29 COSM97055096 ZMYND8 central nervous system,brain,glioma,NS c.1913T>G p.V638G 20:47246130-47246130 3
30 COSM112970642 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 20:47246116-47246116 3
31 COSM92871777 ZMYND8 central nervous system,brain,glioma,NS c.2116G>A p.D706N 20:47246116-47246116 3
32 COSM85475347 ZMYND8 central nervous system,brain,glioma,NS c.2102T>G p.V701G 20:47246130-47246130 3
33 COSM143801239 ZMYND8 central nervous system,brain,glioma,NS c.2041G>A p.D681N 20:47246116-47246116 3
34 COSM114834078 ZMYND8 central nervous system,brain,glioma,NS c.2087T>G p.V696G 20:47246130-47246130 3
35 COSM114839982 ZMYND8 central nervous system,brain,glioma,NS c.2101G>A p.D701N 20:47246116-47246116 3
36 COSM91535436 ZMYND8 central nervous system,brain,glioma,NS c.2176G>A p.D726N 20:47246116-47246116 3
37 COSM91528627 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 20:47246130-47246130 3
38 COSM133275210 ZMYND8 central nervous system,brain,glioma,NS c.1960G>A p.D654N 20:47246116-47246116 3
39 COSM143618110 ZMYND8 central nervous system,brain,glioma,NS c.2116G>A p.D706N 20:47246116-47246116 3
40 COSM111362863 ZMYND8 central nervous system,brain,glioma,NS c.2102T>G p.V701G 20:47246130-47246130 3
41 COSM91401933 ZMYND8 central nervous system,brain,glioma,NS c.2102T>G p.V701G 20:47246130-47246130 3
42 COSM130874736 ZMYND8 central nervous system,brain,glioma,NS c.2197G>A p.D733N 20:47246116-47246116 3
43 COSM116576154 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 20:47246130-47246130 3
44 COSM143862983 ZMYND8 central nervous system,brain,glioma,NS c.2101G>A p.D701N 20:47246116-47246116 3
45 COSM143796197 ZMYND8 central nervous system,brain,glioma,NS c.2027T>G p.V676G 20:47246130-47246130 3
46 COSM102902986 ZMYND8 central nervous system,brain,glioma,NS c.2102T>G p.V701G 20:47246130-47246130 3
47 COSM133265728 ZMYND8 central nervous system,brain,glioma,NS c.1946T>G p.V649G 20:47246130-47246130 3
48 COSM85483642 ZMYND8 central nervous system,brain,glioma,NS c.2116G>A p.D706N 20:47246116-47246116 3
49 COSM112964306 ZMYND8 central nervous system,brain,glioma,NS c.2162T>G p.V721G 20:47246130-47246130 3
50 COSM143856741 ZMYND8 central nervous system,brain,glioma,NS c.2087T>G p.V696G 20:47246130-47246130 3

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 top 50) (show all 133)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 HRAS MAP2K1 MAP2K2 MRAS NF1 PPP1CB
2 13.81 HRAS MAP2K1 MAP2K2 MRAS NF1 PPP1CB
3
Show member pathways
13.58 SOS2 SOS1 RASA2 PTPN11 NF1 MRAS
4
Show member pathways
13.5 HRAS MAP2K1 MAP2K2 MRAS PPP1CB RASA2
5
Show member pathways
13.43 HRAS MAP2K1 MAP2K2 MRAS NF1 PPP1CB
6
Show member pathways
13.41 SOS2 SOS1 PPP1CB MRAS MAP2K2 MAP2K1
7
Show member pathways
13.37 TUBB2A SOS2 SOS1 MRAS MAP2K2 MAP2K1
8
Show member pathways
13.32 TUBB2A PPP1CB MRAS MAP2K2 MAP2K1 HRAS
9
Show member pathways
13.18 SOS2 SOS1 PPP1CB MRAS MAP2K2 MAP2K1
10
Show member pathways
13.14 SOS2 SOS1 MRAS MAP2K2 MAP2K1 HRAS
11
Show member pathways
13.02 SOS2 SOS1 MRAS MAP2K2 MAP2K1 HRAS
12
Show member pathways
13.02 SOS2 SOS1 PPP1CB MRAS MAP2K2 MAP2K1
13
Show member pathways
13 SOS2 SOS1 MAP2K2 MAP2K1 HRAS
14
Show member pathways
12.99 SOS2 SOS1 PTPN11 MRAS MAP2K2 MAP2K1
15
Show member pathways
12.98 TUBB2A MRAS MAP2K2 MAP2K1 HRAS
16
Show member pathways
12.97 HRAS MAP2K1 MAP2K2 MRAS SOS1 SOS2
17 12.94 SPRED1 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
18
Show member pathways
12.93 SOS2 SOS1 MRAS MAP2K1 HRAS
19
Show member pathways
12.93 SOS2 SOS1 MAP2K2 MAP2K1 HRAS
20
Show member pathways
12.92 HRAS MAP2K1 MAP2K2 SOS1 SOS2
21
Show member pathways
12.89 SOS2 SOS1 MRAS MAP2K2 MAP2K1 HRAS
22
Show member pathways
12.86 SOS2 SOS1 PTPN11 PPP1CB MAP2K2 MAP2K1
23
Show member pathways
12.83 SOS2 SOS1 NF1 MAP2K2 MAP2K1 HRAS
24
Show member pathways
12.79 HRAS MAP2K1 MAP2K2 MRAS PPP1CB SHOC2
25
Show member pathways
12.79 SOS2 SOS1 PPP1CB MRAS MAP2K2 MAP2K1
26
Show member pathways
12.78 SOS2 SOS1 MRAS MAP2K2 MAP2K1 HRAS
27
Show member pathways
12.78 HRAS MAP2K1 MAP2K2 MRAS PTPN11 SOS1
28
Show member pathways
12.77 TUBB2A SOS2 SOS1 MRAS MAP2K2 MAP2K1
29
Show member pathways
12.75 HRAS MAP2K1 MAP2K2 PTPN11 SOS1 SOS2
30
Show member pathways
12.72 SOS2 SOS1 MAP2K2 MAP2K1 HRAS
31
Show member pathways
12.71 HRAS MAP2K1 MAP2K2 PPP1CB SOS1 SOS2
32
Show member pathways
12.66 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
33
Show member pathways
12.65 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
34
Show member pathways
12.63 SOS2 SOS1 PTPN11 HRAS
35
Show member pathways
12.63 SPRED1 SOS1 PTPN11 HRAS
36
Show member pathways
12.61 SOS2 SOS1 MRAS MAP2K2 MAP2K1 HRAS
37
Show member pathways
12.6 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
38
Show member pathways
12.59 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
39
Show member pathways
12.58 HRAS MAP2K1 MAP2K2 MRAS SOS1 SOS2
40
Show member pathways
12.56 SOS2 SOS1 RASA2 PPP1CB NF1 MRAS
41
Show member pathways
12.54 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
42
Show member pathways
12.51 SOS2 SOS1 PTPN11 NF1 MAP2K2 MAP2K1
43
Show member pathways
12.5 SOS2 SOS1 MRAS MAP2K2 MAP2K1 HRAS
44
Show member pathways
12.5 SOS2 SOS1 PTPN11 MRAS MAP2K2 MAP2K1
45
Show member pathways
12.47 TUBB2A SOS2 SOS1 HRAS
46
Show member pathways
12.46 SOS2 SOS1 MAP2K2 MAP2K1 HRAS
47
Show member pathways
12.45 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS
48
Show member pathways
12.45 HRAS MAP2K1 MAP2K2 PTPN11 SOS1 SOS2
49 12.45 HRAS MAP2K1 MAP2K2 MRAS NF1 RASA2
50
Show member pathways
12.43 HRAS MAP2K1 MAP2K2 PPP1CB

GO Terms for Neurofibromatosis-Noonan Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 GTPase complex GO:1905360 8.92 SOS1 HRAS

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 10.03 SOS1 SHOC2 PTPN11
2 positive regulation of small GTPase mediated signal transduction GO:0051057 9.87 SOS2 SOS1
3 regulation of early endosome to late endosome transport GO:2000641 9.85 MAP2K2 MAP2K1
4 trachea formation GO:0060440 9.83 MAP2K2 MAP2K1
5 regulation of axon regeneration GO:0048679 9.8 MAP2K2 MAP2K1
6 regulation of T cell differentiation in thymus GO:0033081 9.78 SOS2 SOS1
7 regulation of MAPK cascade GO:0043408 9.76 SPRED1 PTPN11 NF1
8 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.73 MAP2K1 MAP2K2
9 regulation of Golgi inheritance GO:0090170 9.71 MAP2K1 MAP2K2
10 regulation of pro-B cell differentiation GO:2000973 9.67 SOS1 SOS2
11 negative regulation of Ras protein signal transduction GO:0046580 9.65 RASA2 NF1 LZTR1
12 MAPK cascade GO:0000165 9.65 PPP1CB NF1 MAP2K2 MAP2K1 HRAS
13 cerebellar cortex formation GO:0021697 9.62 PTPN11 MAP2K1
14 lymphocyte homeostasis GO:0002260 9.54 SOS2 SOS1
15 positive regulation of miRNA maturation GO:1903800 9.51 MAP2K2 MAP2K1
16 Ras protein signal transduction GO:0007265 9.4 SOS2 SOS1 SHOC2 NF1 MRAS HRAS
17 insulin-like growth factor receptor signaling pathway GO:0048009 9.33 SOS1 MAP2K2 MAP2K1

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

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activator activity GO:0043539 9.1 SOS1 MAP2K2 MAP2K1 HRAS

Sources for Neurofibromatosis-Noonan Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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