MCID: NRF018
MIFTS: 78

Neurofibromatosis, Type 1

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

Aliases & Classifications for Neurofibromatosis, Type 1

MalaCards integrated aliases for Neurofibromatosis, Type 1:

Name: Neurofibromatosis, Type 1 54 29 13
Neurofibromatosis 1 12 23 24 25 71 42 69
Neurofibromatosis 12 50 51 52 41 14
Von Recklinghausen Disease 23 50 24 25 71
Neurofibromatosis Type Ii 72 23 50 24 25
Neurofibromatosis 2 23 24 25 42 69
Nf1 23 50 24 25 71
Bilateral Acoustic Neurofibromatosis 23 50 24 25
Central Neurofibromatosis 12 23 24 25
Neurofibromatosis Type 1 12 50 25 52
Nf2 23 50 24 25
Peripheral Neurofibromatosis 12 24 25
Neurofibromatosis Type 2 12 50 25
Von Recklinghausen's Neurofibromatosis 23 24
Neurofibromatosis Type 4 12 29
Neurofibromatoses 42 69
Banf 24 25
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 56
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 56
Vestibular Schwannoma Neurofibromatosis 24
Neurofibromatosis, Type 4, of Riccardi 42
Type Iv Neurofibromatosis of Riccardi 12
Recklinghausen's Neurofibromatosis 12
Neurofibromatosis Peripheral Type 71
Acoustic Schwannomas, Bilateral 24
Schwannoma, Acoustic, Bilateral 25
Acoustic Schwannomas Bilateral 50
Neurofibromatosis Central Type 50
Recklinghausen Disease, Nerve 25
Acoustic Neurinoma Bilateral 50
Von Recklinghausen's Disease 51
Von Recklinghausen Syndrome 71
Acoustic Neurofibromatosis 12
Familial Acoustic Neuromas 25
Neurofibromatosis Type Iv 12
Von Reklinghausen Disease 12
Familial Acoustic Neuroma 69
Neurofibromatosis Type I 72
Recklinghausen's Disease 50
Type 1 Neurofibromatosis 50
Nf 1 24
Nf 2 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
50% of cases are de novo
sporadic occurrence is associated with advanced paternal age
prevalence of 1 in 3,000


HPO:

32
neurofibromatosis, type 1:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is virtually complete after childhood...
Penetrance Penetrance is close to 100%. virtually all individuals who have a germline pathogenic variant develop the disease in an average lifetime...

Classifications:



Summaries for Neurofibromatosis, Type 1

NINDS : 51 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.

MalaCards based summary : Neurofibromatosis, Type 1, also known as neurofibromatosis 1, is related to neurofibromatosis-noonan syndrome and paraganglioma and gastric stromal sarcoma, and has symptoms including short stature, scoliosis and visual impairment. An important gene associated with Neurofibromatosis, Type 1 is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Developmental Biology and Cytokine Signaling in Immune system. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are Decreased viability and cellular

NIH Rare Diseases : 50 neurofibromatosis (nf) is a genetic disease that causes tumors to develop in the nervous system. there are three types of neurofibromatosis that are each associated with unique signs and symptoms:neurofibromatosis type 1 (nf1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. signs and symptoms are usually present at birth. neurofibromatosis type 2 (nf2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. it often starts in the teen years. schwannomatosis causes schwannomas, pain, numbness, and weakness. it is the rarest type. all three types of nf are inherited in an autosomal dominant manner. there is no cure for nf. treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy, and/or medicines. last updated: 2/16/2017

UniProtKB/Swiss-Prot : 71 Neurofibromatosis 1: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.

MedlinePlus : 41 neurofibromatosis is a genetic disorder of the nervous system. it mainly affects how nerve cells form and grow. it causes tumors to grow on nerves. you can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. once you have it, you can pass it along to your children. usually the tumors are benign, but sometimes they can become cancerous. there are three types of neurofibromatosis: type 1 (nf1) causes skin changes and deformed bones. it usually starts in childhood. sometimes the symptoms are present at birth. type 2 (nf2) causes hearing loss, ringing in the ears, and poor balance. symptoms often start in the teen years. schwannomatosis causes intense pain. it is the rarest type. doctors diagnose the different types based on the symptoms. genetic testing is also used to diagnose nf1 and nf2. there is no cure. treatment can help control symptoms. depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. nih: national institute of neurological disorders and stroke

Genetics Home Reference : 25 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.

OMIM : 54
Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009). Type II neurofibromatosis (NF2; 101000) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2; 607379) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993). Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; 120436 and MSH2; 609309) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (276300), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1. See also Legius syndrome (611431), a genetically distinct disorder with a similar phenotype to NF1. (162200)

Wikipedia : 72 Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a... more...

GeneReviews: NBK1201 NBK1109

Related Diseases for Neurofibromatosis, Type 1

Diseases in the Neurofibromatosis, Type 1 family:

Neurofibromatosis, Type 2

Diseases related to Neurofibromatosis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 305)
id Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 34.2 NF1 NF2
2 paraganglioma and gastric stromal sarcoma 32.0 SDHB SDHC SDHD
3 mismatch repair cancer syndrome 31.9 MLH1 MSH2 MSH6 PMS2
4 gastrointestinal stromal tumor 29.8 KIT NF1 PDGFRA SDHB SDHC SDHD
5 pheochromocytoma 29.4 NF1 RET SDHB SDHC SDHD VHL
6 paraganglioma 29.1 NF1 RET SDHB SDHC SDHD VHL
7 neurofibromatosis, familial spinal 25.6 CRTAC1 HRAS KIT LOC106113037 MLH1 MSH2
8 neurofibromatosis, type 2 12.4
9 legius syndrome 11.7
10 chromosome 17q11.2 deletion syndrome 11.4
11 malignant peripheral nerve sheath tumor 11.4
12 optic pathway glioma 11.2
13 pilocytic astrocytoma 11.2
14 neurofibrosarcoma 11.1
15 glioblastoma 11.1
16 insulinoma 11.1
17 pancreatic neuroendocrine tumor 11.1
18 watson syndrome 11.1
19 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.0
20 autosomal dominant deafness-onychodystrophy syndrome 10.8 NF1 SPRED1
21 brain and spinal tumors 10.8
22 hereditary paraganglioma-pheochromocytoma syndromes 10.8
23 noonan syndrome 1 10.8
24 spinal cancer 10.8
25 soft tissue sarcoma 10.8
26 megalencephaly 10.8
27 hemimegalencephaly 10.8
28 interstitial nephritis, karyomegalic 10.6 MSH2 MSH6 NF1 SPRED1
29 wissler's syndrome 10.6 MLH1 MSH2 MSH6
30 psoriasis 10.6 MLH1 MSH2
31 carcinoid tumors, intestinal 10.6 SDHB SDHC SDHD
32 neurogenic hypertension 10.6 SDHB SDHC SDHD
33 rete ovarii cystadenoma 10.6 SDHB SDHC SDHD
34 uterine corpus endometrial carcinoma 10.6 SDHB SDHC SDHD
35 cellular myxoid liposarcoma 10.6 MLH1 MSH2 MSH6
36 serous surface papilloma 10.5 SDHB SDHC SDHD
37 glycogen storage disease ib 10.5 SDHB SDHC SDHD
38 neurofibroma 10.5
39 large intestine adenocarcinoma 10.5 MLH1 MSH2 MSH6 PMS2
40 optic nerve sheath meningioma 10.5 MLH1 MSH2 MSH6 PMS2
41 benign fibrous mesothelioma 10.5 MLH1 MSH2 MSH6 PMS2
42 cataract 27, nuclear progressive 10.5 MLH1 MSH2 MSH6 PMS2
43 residual stage corticosteroid-induced glaucoma 10.5 SDHB SDHC SDHD
44 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 MLH1 MSH2
45 benign ependymoma 10.5 MLH1 MSH2 MSH6 PMS2
46 hereditary nephrotic syndromes, autosomal dominant 10.5 MLH1 MSH2 MSH6 PMS2
47 pediatric supratentorial ependymoma 10.5 SDHB SDHC SDHD
48 muir-torre syndrome 10.5 MLH1 MSH2 MSH6 PMS2
49 borna disease 10.5 NF1 NF2 SPRED1
50 bardet-biedl syndrome 10.4 MLH1 MSH2 MSH6

Comorbidity relations with Neurofibromatosis, Type 1 via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Neurofibromatosis, Type 1:



Diseases related to Neurofibromatosis, Type 1

Symptoms & Phenotypes for Neurofibromatosis, Type 1

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
spina bifida

Head And Neck- Eyes:
hypertelorism
glaucoma
lisch nodules (iris hamartomas)
hyperreflective choroidal spots in the posterior pole

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

Neoplasia:
rhabdomyosarcoma
pheochromocytoma
meningioma
parathyroid adenoma
optic glioma
more
Neurologic- Central Nervous System:
hydrocephalus
aqueductal stenosis
learning disabilities (30%)
mental retardation, mild (10%)

Head And Neck- Head:
macrocephaly
sphenoid dysplasia

Cardiovascular- Vascular:
hypertension
renal artery stenosis

Skeletal- Limbs:
pseudoarthrosis
thinning of long bone cortex
local bony overgrowth


Clinical features from OMIM:

162200

Human phenotypes related to Neurofibromatosis, Type 1:

32 (show top 50) (show all 74)
id Description HPO Frequency HPO Source Accession
1 short stature 32 very rare (1%) HP:0004322
2 scoliosis 32 very rare (1%) HP:0002650
3 visual impairment 32 occasional (7.5%) HP:0000505
4 ataxia 32 frequent (33%) HP:0001251
5 myopia 32 occasional (7.5%) HP:0000545
6 headache 32 frequent (33%) HP:0002315
7 seizures 32 very rare (1%) HP:0001250
8 hydrocephalus 32 occasional (7.5%) HP:0000238
9 hypsarrhythmia 32 very rare (1%) HP:0002521
10 hypertelorism 32 HP:0000316
11 proptosis 32 frequent (33%) HP:0000520
12 kyphosis 32 occasional (7.5%) HP:0002808
13 glaucoma 32 very rare (1%) HP:0000501
14 cryptorchidism 32 frequent (33%) HP:0000028
15 genu valgum 32 very rare (1%) HP:0002857
16 genu varum 32 occasional (7.5%) HP:0002970
17 macrocephaly 32 occasional (7.5%) HP:0000256
18 cataract 32 occasional (7.5%) HP:0000518
19 intellectual disability, mild 32 hallmark (90%) HP:0001256
20 delayed puberty 32 hallmark (90%) HP:0000823
21 recurrent fractures 32 frequent (33%) HP:0002757
22 spina bifida 32 HP:0002414
23 hypertension 32 occasional (7.5%) HP:0000822
24 memory impairment 32 frequent (33%) HP:0002354
25 joint stiffness 32 occasional (7.5%) HP:0001387
26 aqueductal stenosis 32 very rare (1%) HP:0002410
27 renal artery stenosis 32 very rare (1%) HP:0001920
28 tall stature 32 frequent (33%) HP:0000098
29 freckling 32 frequent (33%) HP:0001480
30 axillary freckling 32 HP:0000997
31 astrocytoma 32 hallmark (90%) HP:0009592
32 rhabdomyosarcoma 32 HP:0002859
33 skeletal dysplasia 32 frequent (33%) HP:0002652
34 hypopigmented skin patches 32 occasional (7.5%) HP:0001053
35 pheochromocytoma 32 very rare (1%) HP:0002666
36 meningioma 32 very rare (1%) HP:0002858
37 heterochromia iridis 32 frequent (33%) HP:0001100
38 precocious puberty 32 occasional (7.5%) HP:0000826
39 corneal opacity 32 occasional (7.5%) HP:0007957
40 hearing impairment 32 frequent (33%) HP:0000365
41 overgrowth 32 HP:0001548
42 chorioretinal coloboma 32 occasional (7.5%) HP:0000567
43 abnormal electroretinogram 32 occasional (7.5%) HP:0000512
44 paresthesia 32 frequent (33%) HP:0003401
45 attention deficit hyperactivity disorder 32 frequent (33%) HP:0007018
46 parathyroid adenoma 32 HP:0002897
47 plexiform neurofibroma 32 very rare (1%) HP:0009732
48 inguinal freckling 32 HP:0030052
49 optic glioma 32 very rare (1%) HP:0009734
50 neurofibrosarcoma 32 HP:0100697

UMLS symptoms related to Neurofibromatosis, Type 1:


neuralgia, ataxia, headache, back pain, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.18 HRAS
2 Decreased viability GR00173-A 10.18 PDGFRA
3 Decreased viability GR00221-A-1 10.18 NF1 RET SDHD VHL KIT PDGFRA
4 Decreased viability GR00221-A-2 10.18 NF1 RET SDHD VHL HRAS
5 Decreased viability GR00221-A-3 10.18 HRAS PDGFRA
6 Decreased viability GR00221-A-4 10.18 NF1 RET SDHD PDGFRA RASA2
7 Decreased viability GR00231-A 10.18 RET
8 Decreased viability GR00301-A 10.18 RET VHL KIT MSH2
9 Decreased viability GR00381-A-1 10.18 SDHD
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Neurofibromatosis, Type 1:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 MSH2 MSH6 NF1 PDGFRA PMS2 RASA1
2 homeostasis/metabolism MP:0005376 10.29 HRAS KIT MLH1 MSH2 MSH6 NF1
3 mortality/aging MP:0010768 10.28 HRAS KIT MLH1 MSH2 MSH6 NF1
4 endocrine/exocrine gland MP:0005379 10.24 NF1 NF2 PDGFRA PMS2 RET SDHB
5 digestive/alimentary MP:0005381 10.18 KIT MLH1 MSH2 NF1 PDGFRA PMS2
6 neoplasm MP:0002006 10.18 MSH2 MSH6 NF1 NF2 PDGFRA PMS2
7 craniofacial MP:0005382 10.14 HRAS KIT NF1 NF2 PDGFRA RASA1
8 embryo MP:0005380 10.11 KIT NF1 NF2 PDGFRA RASA1 RET
9 integument MP:0010771 10.11 HRAS KIT MLH1 MSH2 MSH6 NF1
10 nervous system MP:0003631 10.06 CRTAC1 HRAS KIT MSH2 NF1 NF2
11 limbs/digits/tail MP:0005371 9.98 PDGFRA RASA1 RET SPRED1 VHL KIT
12 normal MP:0002873 9.81 HRAS KIT NF1 OMG PDGFRA RET
13 no phenotypic analysis MP:0003012 9.8 RASA1 RET SDHB HRAS KIT OMG
14 renal/urinary system MP:0005367 9.5 HRAS KIT NF1 NF2 PDGFRA RET
15 respiratory system MP:0005388 9.23 NF1 NF2 PDGFRA RET SPRED1 HRAS

Drugs & Therapeutics for Neurofibromatosis, Type 1

Drugs for Neurofibromatosis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 170)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Everolimus Approved Phase 4,Phase 2,Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
5
Palbociclib Approved Phase 4,Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
6
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
7
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
8
Sunitinib Approved, Investigational Phase 4,Phase 2 341031-54-7, 557795-19-4 5329102
9
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
10
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
11
Trametinib Approved Phase 4,Phase 2 871700-17-3 11707110
12
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
13
Ceritinib Approved Phase 4 1032900-25-6
14
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
15
Olaparib Approved Phase 4 763113-22-0 23725625
16
Ramucirumab Approved, Investigational Phase 4 947687-13-0
17
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
18
Lapatinib Approved March 2007, Investigational Phase 4 231277-92-2, 388082-78-8 208908 9941095
19 Central Nervous System Stimulants Phase 4
20 Dopamine Agents Phase 4
21 Dopamine Uptake Inhibitors Phase 4
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Neurotransmitter Uptake Inhibitors Phase 4
24 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
26 Antifungal Agents Phase 4,Phase 2,Phase 1
27 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
28
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
29 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 123596
30 Immunosuppressive Agents Phase 4,Phase 2,Phase 1
31 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
32 Poly(ADP-ribose) Polymerase Inhibitors Phase 4
33
Tamsulosin Approved, Investigational Phase 3,Phase 1 106133-20-4 129211
34
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
35
Pregabalin Approved, Illicit, Investigational Phase 3,Phase 1 148553-50-8 5486971
36
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
37
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
38 Orange Approved, Nutraceutical Phase 3
39 Adrenergic Agents Phase 3,Phase 1
40 Adrenergic alpha-1 Receptor Antagonists Phase 3,Phase 1
41 Adrenergic alpha-Antagonists Phase 3,Phase 1
42 Adrenergic Antagonists Phase 3,Phase 1
43 Carboxymethylcellulose Sodium Phase 3,Phase 1,Phase 2
44 Anticonvulsants Phase 2, Phase 3, Phase 1
45 calcium channel blockers Phase 2, Phase 3, Phase 1
46 Calcium, Dietary Phase 2, Phase 3, Phase 1
47 Analgesics Phase 3,Phase 2,Phase 1
48 Anti-Anxiety Agents Phase 3,Phase 1
49 Central Nervous System Depressants Phase 3,Phase 1
50 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 131)

id Name Status NCT ID Phase Drugs
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
2 Molecular Profiling and Matched Targeted Therapy for Patients With Metastatic Melanoma Not yet recruiting NCT02645149 Phase 4 Standard therapy or clinical trial;Matched targeted therapy;Trametinib and / or supportive care
3 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
4 Study to Investigate the Efficacy and Safety of GL2702 GLARS-NF1tablet and Harnal-D - Tablet in BPH Patients With LUTS Completed NCT02303769 Phase 3 Tamsulosin HCL 0.4mg;Tamsulosin HCL 0.2mg
5 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;Placebo
6 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
7 Clinical Trial to Evaluate the Efficacy and Safety of 'GLA5PR GLARS-NF1 Tab.' in Peripheral Neuropathic Pain Recruiting NCT03221907 Phase 3 GLA5PR GLARS-NF1;GLA5PR GLARS-NF1 placebo;Pregabalin;Pregabalin placebo
8 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
9 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
10 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
11 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
12 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
13 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
14 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
15 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
16 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
17 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
18 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
19 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
20 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
21 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
22 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
23 Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Recruiting NCT03109301 Phase 2 Selumetinib (AZD6244 hyd sulfate)
24 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
25 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
26 NF1 Health Sciences Protocol Recruiting NCT02964884 Phase 2 Lovastatin 20 MG;Placebo Oral Tablet;Lovastatin 40 MG
27 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
28 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
29 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
30 PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2 PLX3397
31 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
32 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2 AZD6244
33 Phase I/II Study of MEK162 for Children With Ras/Raf Pathway Activated Tumors Recruiting NCT02285439 Phase 1, Phase 2 MEK162
34 Vinblastine +/- Bevacizumab in Children With Unresectable or Progressive Low Grade Glioma (LGG) Recruiting NCT02840409 Phase 2 Vinblastine;Bevacizumab
35 Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
36 Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
37 Study of Mutation-Targeted Therapy With Sunitinib or Everolimus in People With Advanced Low- or Intermediate-Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Recruiting NCT02315625 Phase 2 Sunitinib;Everolimus
38 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2 Afatinib;Akt inhibitor AZD5363;Binimetinib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib;WEE1 Inhibitor AZD1775
39 Pediatric MATCH: Selumetinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating MAPK Pathway Mutations Recruiting NCT03213691 Phase 2 Selumetinib
40 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Active, not recruiting NCT00853580 Phase 2 Lovastatin ™
41 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Active, not recruiting NCT02096471 Phase 2 PD-0325901
42 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Active, not recruiting NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
43 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 (16 Years +) Active, not recruiting NCT02101736 Phase 2 Cabozantinib
44 Medical Treatment of "High-Risk" Neurofibromas Active, not recruiting NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
45 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Active, not recruiting NCT02352844 Phase 2 Everolimus
46 Study of RAD001 (Everolimus) for Children With NF1 and Chemotherapy-Refractory Radiographic Progressive Low Grade Gliomas Active, not recruiting NCT01158651 Phase 2 RAD001 (Everolimus)
47 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Active, not recruiting NCT01661283 Phase 2 everolimus;bevacizumab
48 Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma Active, not recruiting NCT01553149 Phase 2 Lenalidomide
49 SARC023: Ganetespib and Sirolimos in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Active, not recruiting NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
50 Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas Active, not recruiting NCT01125046 Phase 2

Search NIH Clinical Center for Neurofibromatosis, Type 1

Cochrane evidence based reviews: neurofibromatosis 1

Genetic Tests for Neurofibromatosis, Type 1

Genetic tests related to Neurofibromatosis, Type 1:

id Genetic test Affiliating Genes
1 Neurofibromatosis, Type 1 29
2 Neurofibromatosis Type 4 29
3 Neurofibromatosis 1 24 NF1

Anatomical Context for Neurofibromatosis, Type 1

MalaCards organs/tissues related to Neurofibromatosis, Type 1:

39
Skin, Brain, Bone, Eye, Testes, Spinal Cord, Breast

Publications for Neurofibromatosis, Type 1

Articles related to Neurofibromatosis, Type 1:

(show top 50) (show all 766)
id Title Authors Year
1
Neurofibromatosis type 1 alternative splicing is a key regulator of Ras/ERK signaling and learning behaviors in mice. ( 28934393 )
2017
2
Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1. ( 28919049 )
2017
3
Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [(18) F]FDG-PET imaging. Is it of value in asymptomatic patients? ( 28771999 )
2017
4
Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 28658406 )
2017
5
Optic Pathway Gliomas Secondary to Neurofibromatosis Type 1. ( 28941532 )
2017
6
Development of the pediatric quality of life inventory neurofibromatosis type 1 module items for children, adolescents and young adults: qualitative methods. ( 28078640 )
2017
7
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGMa8c platform. ( 27838393 )
2017
8
Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report. ( 28851321 )
2017
9
Updated nomenclature for human and mouse neurofibromatosis type 1 genes. ( 28804759 )
2017
10
Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Gliomaa8c. ( 28346917 )
2017
11
Mixed mucinous adenocarcinoma and somatostatinoma of the ampulla of Vater associated with neurofibromatosis type 1. ( 28693748 )
2017
12
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study. ( 28189268 )
2017
13
Neurofibromatosis type 1 and right mandibular hypoplasia: unusual diagnosis of occlusion of the left common carotid artery. ( 28866440 )
2017
14
Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case. ( 28931105 )
2017
15
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. ( 28436162 )
2017
16
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer. ( 28891274 )
2017
17
Becker's nevus in neurofibromatosis type 1: a single center experience in Italy. ( 28906096 )
2017
18
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
19
Ruptured extradural vertebral artery aneurysm in a patient with neurofibromatosis type 1. ( 28057401 )
2017
20
Soft Tissue Perineurioma in a Child With Neurofibromatosis Type 1: A Case Report and Review of the Literature. ( 28812461 )
2017
21
Intrathoracic meningocele associated with neurofibromatosis Type 1 and a novel technique for surgical repair: case report. ( 28621617 )
2017
22
Metastatic angiosarcoma arising in malignant peripheral nerve sheath tumor in a young patient with neurofibromatosis type 1. ( 28548697 )
2017
23
Neurofibromatosis type 1 and lichen sclerosus: an uncommon association. ( 27978612 )
2017
24
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
25
Retinitis pigmentosa: an unusual ocular manifestation in a patient with neurofibromatosis type 1. ( 28906094 )
2017
26
Anemic nevus is a new diagnostic criterion for neurofibromatosis type 1. ( 28906098 )
2017
27
Combined presence of multiple gastrointestinal stromal tumors along with duodenal submucosal somatostatinoma in a patient with neurofibromatosis type 1. ( 27510677 )
2016
28
Mechanical Ptosis in Neurofibromatosis Type 1 Heralding the Diagnosis of Right Sided Cervical Vagus Nerve Neurofibroma: A Rare Case Report. ( 27504321 )
2016
29
Ganglioglioma of conus medullaris in a patient of neurofibromatosis type 1: A novel association? ( 27695570 )
2016
30
Infundibular Hemangioblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 26724614 )
2016
31
Primary Effusion Lymphoma-like Lymphoma in a Patient with Neurofibromatosis Type 1. ( 27628603 )
2016
32
MAGEA3 methylation status is associated with prognosis of malignant peripheral nerve sheath tumor and with neurofibroma type in neurofibromatosis type 1. ( 27422441 )
2016
33
Coexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1. ( 27597922 )
2016
34
Sensitization of Ion Channels Contributes to Central and Peripheral Dysfunction in Neurofibromatosis Type 1. ( 27167129 )
2016
35
High-Dose Intravenous Vitamin C Treatment of a Child with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Case Report. ( 27773919 )
2016
36
Neurofibromatosis type 1: focal dystonia associated with a malignant peripheral nerve sheath tumour-a video-illustrated case. ( 27797864 )
2016
37
Aberrant demethylation and expression of MAGEB2 in a subset of malignant peripheral nerve sheath tumors from neurofibromatosis type 1. ( 26642794 )
2016
38
Pheochromocytoma in neurofibromatosis type 1 during pregnancy. ( 27908211 )
2016
39
Hemidystonia in a Child With Neurofibromatosis Type 1. ( 27898639 )
2016
40
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. ( 27074763 )
2016
41
A case of spontaneous haematoma from vertebral artery arterio-venous fistula in a patient with neurofibromatosis type 1. ( 27596615 )
2016
42
Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1. ( 27280756 )
2016
43
Peripheral retinal ischemia in a young Indian woman with neurofibromatosis type 1. ( 26949362 )
2016
44
Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature. ( 26970398 )
2016
45
Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? ( 27976555 )
2016
46
Peripheral Primitive Neuroectodermal Tumor and Neurofibromatosis Type 1 in an Adolescent Male. ( 26828586 )
2016
47
Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1. ( 26732170 )
2016
48
Goblet Cell Carcinoid of the Rectum in a Patient with Neurofibromatosis Type 1. ( 27237132 )
2016
49
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series. ( 28050470 )
2016
50
[Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1]. ( 27060315 )
2016

Variations for Neurofibromatosis, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis, Type 1:

71 (show top 50) (show all 79)
id Symbol AA change Variation ID SNP ID
1 NF1 p.Gly629Arg VAR_002653 rs199474738
2 NF1 p.Leu844Arg VAR_002654 rs137854566
3 NF1 p.Leu898Pro VAR_002655 rs199474786
4 NF1 p.Met1035Arg VAR_002657 rs137854553
5 NF1 p.Lys1440Arg VAR_002658 rs199474788
6 NF1 p.Lys1444Glu VAR_002659 rs137854550
7 NF1 p.Arg1611Trp VAR_002660
8 NF1 p.Trp1952Arg VAR_002662 rs199474791
9 NF1 p.Leu1953Pro VAR_002663 rs199474792
10 NF1 p.Leu2164Met VAR_002664 rs137854551
11 NF1 p.Tyr2192Asn VAR_002665 rs267606598
12 NF1 p.Thr2631Ala VAR_002667 rs199474793
13 NF1 p.Leu1446Pro VAR_008129 rs199474733
14 NF1 p.Ile117Ser VAR_010989 rs199474731
15 NF1 p.Asp338Gly VAR_010990 rs199474773
16 NF1 p.Leu508Pro VAR_010991 rs137854558
17 NF1 p.Leu844Phe VAR_010992 rs199474785
18 NF1 p.Gly1166Asp VAR_010993 rs199474787
19 NF1 p.Arg1204Trp VAR_010994 rs199474732
20 NF1 p.Arg1276Pro VAR_010995 rs137854556
21 NF1 p.Arg1412Ser VAR_010996 rs137854554
22 NF1 p.Lys1440Gln VAR_010997 rs199474790
23 NF1 p.Ser1489Gly VAR_010998 rs199474743
24 NF1 p.Cys93Tyr VAR_017551 rs199474728
25 NF1 p.Leu604Val VAR_017553 rs142712751
26 NF1 p.Arg1276Gln VAR_017555 rs137854556
27 NF1 p.Ser82Phe VAR_021730 rs199474729
28 NF1 p.Ile157Asn VAR_021731 rs199474744
29 NF1 p.Leu216Pro VAR_021732 rs199474756
30 NF1 p.Leu357Pro VAR_021733 rs137854563
31 NF1 p.Tyr491Cys VAR_021734 rs199474757
32 NF1 p.Leu549Pro VAR_021735 rs199474758
33 NF1 p.Leu578Arg VAR_021736 rs199474774
34 NF1 p.Ile581Thr VAR_021737 rs199474759
35 NF1 p.Lys583Arg VAR_021738 rs199474760
36 NF1 p.Leu695Pro VAR_021740 rs199474761
37 NF1 p.Leu763Pro VAR_021741 rs199474762
38 NF1 p.Trp777Ser VAR_021743 rs199474745
39 NF1 p.Thr780Lys VAR_021744 rs199474746
40 NF1 p.His781Pro VAR_021745 rs199474763
41 NF1 p.Trp784Cys VAR_021746 rs199474778
42 NF1 p.Trp784Arg VAR_021747 rs199474730
43 NF1 p.Leu847Pro VAR_021748 rs199474747
44 NF1 p.Gly848Glu VAR_021749 rs199474748
45 NF1 p.Leu920Pro VAR_021750 rs199474775
46 NF1 p.Met968Arg VAR_021751 rs199474749
47 NF1 p.Leu1147Pro VAR_021752 rs199474779
48 NF1 p.Asn1156Ser VAR_021753 rs199474764
49 NF1 p.Phe1193Cys VAR_021754 rs199474780
50 NF1 p.Arg1204Gly VAR_021755 rs199474732

ClinVar genetic disease variations for Neurofibromatosis, Type 1:

6 (show top 50) (show all 405)
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NF1, ALU INS insertion Pathogenic
2 NF1 NF1, 5-BP DEL deletion Pathogenic
3 NF1 NM_001042492.2(NF1): c.5858T> C (p.Leu1953Pro) single nucleotide variant Pathogenic rs199474792 GRCh37 Chromosome 17, 29661901: 29661901
4 NF1 NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter) single nucleotide variant Pathogenic rs267606595 GRCh37 Chromosome 17, 29661951: 29661951
5 NF1 NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs) duplication Pathogenic rs267606596 GRCh37 Chromosome 17, 29654759: 29654759
6 NF1 NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs) insertion Pathogenic rs267606597 GRCh37 Chromosome 17, 29654776: 29654777
7 NF1 NM_000267.3(NF1): c.6427C> A (p.Leu2143Met) single nucleotide variant Pathogenic rs137854551 GRCh37 Chromosome 17, 29664448: 29664448
8 NF1 NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn) single nucleotide variant Pathogenic rs267606598 GRCh37 Chromosome 17, 29664532: 29664532
9 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
10 NF1 NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter) single nucleotide variant Pathogenic rs137854560 GRCh37 Chromosome 17, 29576111: 29576111
11 NF1 NM_000267.3(NF1): c.3113+1G> A single nucleotide variant Pathogenic rs267606599 GRCh37 Chromosome 17, 29557401: 29557401
12 NF1 NM_001042492.2(NF1): c.1541_1542delAG (p.Gln514Argfs) deletion Pathogenic rs267606600 GRCh37 Chromosome 17, 29546036: 29546037
13 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Pathogenic rs137854553 GRCh37 Chromosome 17, 29557391: 29557391
14 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Pathogenic rs137854554 GRCh37 Chromosome 17, 29585424: 29585424
15 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
16 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
17 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh37 Chromosome 17, 29541599: 29541599
18 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh37 Chromosome 17, 29528504: 29528504
19 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh37 Chromosome 17, 29576048: 29576048
20 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
21 NF1 NF1, DEL deletion Pathogenic
22 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh37 Chromosome 17, 29562641: 29562641
23 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
24 NF1 NF1, 1-BP DEL, 3775T deletion Pathogenic
25 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh37 Chromosome 17, 29528062: 29528062
26 NF1 NF1, 1-BP DEL, 4071C deletion Pathogenic
27 NF1 NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro) single nucleotide variant Pathogenic rs137854564 GRCh37 Chromosome 17, 29562648: 29562648
28 NF1 NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter) single nucleotide variant Pathogenic rs137854565 GRCh37 Chromosome 17, 29657477: 29657477
29 NF1 NM_000267.3(NF1): c.2531T> G (p.Leu844Arg) single nucleotide variant Pathogenic rs137854566 GRCh37 Chromosome 17, 29556164: 29556164
30 NF1 NF1, IVS27DS, G-C, +1 single nucleotide variant Pathogenic
31 NF2 NM_000268.3(NF2): c.1079T> C (p.Leu360Pro) single nucleotide variant Pathogenic rs74315492 GRCh37 Chromosome 22, 30067894: 30067894
32 NF2 NM_000268.3(NF2): c.240+1G> T single nucleotide variant Pathogenic rs587776562 GRCh37 Chromosome 22, 30032866: 30032866
33 NF2 NM_000268.3(NF2): c.1604T> C (p.Leu535Pro) single nucleotide variant Pathogenic rs74315493 GRCh37 Chromosome 22, 30077457: 30077457
34 NF2 NM_000268.3(NF2): c.1613A> C (p.Gln538Pro) single nucleotide variant Pathogenic rs74315494 GRCh37 Chromosome 22, 30077466: 30077466
35 NF2 NM_000268.3(NF2): c.286_288delTTC (p.Phe96del) deletion Pathogenic rs121434260 GRCh37 Chromosome 22, 30035124: 30035126
36 NF2 NM_000268.3(NF2): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs74315495 GRCh37 Chromosome 22, 30051610: 30051610
37 NF2 NM_000268.3(NF2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic rs74315496 GRCh37 Chromosome 22, 30057302: 30057302
38 NF2 NM_000268.3(NF2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs74315497 GRCh37 Chromosome 22, 30064394: 30064394
39 NF2 NM_000268.3(NF2): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs74315499 GRCh37 Chromosome 22, 30067836: 30067836
40 NF2 NM_000268.3(NF2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs74315501 GRCh37 Chromosome 22, 30069354: 30069354
41 NF2 NM_000268.3(NF2): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs74315503 GRCh37 Chromosome 22, 30070871: 30070871
42 NF2 NM_000268.3(NF2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs74315504 GRCh37 Chromosome 22, 30070880: 30070880
43 NF2 NM_000268.3(NF2): c.1579G> T (p.Glu527Ter) single nucleotide variant Pathogenic rs74315505 GRCh37 Chromosome 22, 30077432: 30077432
44 NF2 NM_000268.3(NF2): c.185T> C (p.Phe62Ser) single nucleotide variant Pathogenic rs121434261 GRCh37 Chromosome 22, 30032810: 30032810
45 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
46 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514641 GRCh37 Chromosome 17, 29497003: 29497003
47 NF1 NM_000267.3(NF1): c.1595T> C (p.Leu532Pro) single nucleotide variant Pathogenic rs199474737 GRCh37 Chromosome 17, 29546090: 29546090
48 NF1 NM_001042492.2(NF1): c.1748A> G (p.Lys583Arg) single nucleotide variant Pathogenic rs199474760 GRCh37 Chromosome 17, 29550488: 29550488
49 NF1 NM_001042492.2(NF1): c.1885G> A (p.Gly629Arg) single nucleotide variant Pathogenic rs199474738 GRCh37 Chromosome 17, 29552152: 29552152
50 NF1 NM_001042492.2(NF1): c.2288T> C (p.Leu763Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199474762 GRCh37 Chromosome 17, 29554272: 29554272

Copy number variations for Neurofibromatosis, Type 1 from CNVD:

7 (show top 50) (show all 70)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 107543 17 15900000 22100000 Microdeletion Neurofibromatosis
2 108747 17 22200000 78774742 Deletion Neurofibromatosis
3 108749 17 22200000 78774742 Deletion duplicatio n Neurofibromatosis
4 108858 17 23200000 28800000 Deletion or duplicat ion NF1 Neurofibromatosis
5 108865 17 23200000 28800000 Microdeletion AK3P1b Neurofibromatosis type 1
6 108866 17 23200000 28800000 Microdeletion ATAD5 Neurofibromatosis type 1
7 108868 17 23200000 28800000 Microdeletion C17orf42 Neurofibromatosis type 1
8 108869 17 23200000 28800000 Microdeletion C17orf79 Neurofibromatosis type 1
9 108870 17 23200000 28800000 Microdeletion CENTA2 Neurofibromatosis type 1
10 108871 17 23200000 28800000 Microdeletion CRLF3 Neurofibromatosis type 1
11 108872 17 23200000 28800000 Microdeletion DPRXP4 Neurofibromatosis type 1
12 108873 17 23200000 28800000 Microdeletion EVI2A Neurofibromatosis type 1
13 108874 17 23200000 28800000 Microdeletion EVI2B Neurofibromatosis type 1
14 108875 17 23200000 28800000 Microdeletion LOC646013 Neurofibromatosis type 1
15 108876 17 23200000 28800000 Microdeletion LOC646021 Neurofibromatosis type 1
16 108877 17 23200000 28800000 Microdeletion LOC646037 Neurofibromatosis type 1
17 108878 17 23200000 28800000 Microdeletion LRRC37B Neurofibromatosis type 1
18 108879 17 23200000 28800000 Microdeletion LRRC37B2 Neurofibromatosis type 1
19 108880 17 23200000 28800000 Microdeletion MIRN193A Neurofibromatosis type 1
20 108881 17 23200000 28800000 Microdeletion MIRN365-2 Neurofibromatosis type 1
21 108882 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
22 108883 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
23 108884 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
24 108885 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
25 108886 17 23200000 28800000 Microdeletion OMG Neurofibromatosis type 1
26 108887 17 23200000 28800000 Microdeletion RAB11FIP4 Neurofibromatosis type 1
27 108888 17 23200000 28800000 Microdeletion RNF135 Neurofibromatosis type 1
28 108889 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
29 108890 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
30 108891 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
31 108892 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
32 108893 17 23200000 28800000 Microdeletion UTP6 Neurofibromatosis type 1
33 108894 17 23200000 28800000 Microdeletion or mic roduplication NF1 Neurofibromatosis type 1
34 109393 17 25800000 31800000 Deletion Neurofibromatosis
35 109395 17 25800000 31800000 Deletion NF1 Neurofibromatosis type 1
36 109408 17 25800000 31800000 Copy number NF1 Neurofibromatosis type 1
37 109504 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
38 109505 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
39 109506 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
40 109522 17 26576214 26734130 Deletion EVI2A Neurofibromatosis type 1
41 109523 17 26576214 26734130 Deletion EVI2B Neurofibromatosis type 1
42 109524 17 26576214 26734130 Deletion NF1 Neurofibromatosis type 1
43 109525 17 26576214 26734130 Deletion OMG Neurofibromatosis type 1
44 109526 17 26576214 26734130 Deletion RAB11FIP4 Neurofibromatosis type 1
45 109530 17 26611486 26611711 Deletion Neurofibromatosis
46 109531 17 26612781 26613078 Deletion Neurofibromatosis
47 109532 17 26614112 26614421 Deletion Neurofibromatosis
48 109533 17 26616287 26616583 Deletion Neurofibromatosis
49 109534 17 26642254 28641850 Deletion Neurofibromatosis
50 109539 17 26646606 26646625 Deletion Neurofibromatosis

Expression for Neurofibromatosis, Type 1

Search GEO for disease gene expression data for Neurofibromatosis, Type 1.

Pathways for Neurofibromatosis, Type 1

Pathways related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 24)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 HRAS KIT NF1 PDGFRA RASA1 RASA2
2
Show member pathways
13.24 HRAS KIT NF1 PDGFRA RASA1 RASA2
3
Show member pathways
12.81 HRAS MLH1 MSH2 MSH6 PDGFRA RASA1
4 12.59 HRAS NF1 PDGFRA RASA1 RASA2
5
Show member pathways
12.49 HRAS KIT NF1 PDGFRA RASA1 RASA2
6
Show member pathways
12.28 HRAS KIT MLH1 MSH2 MSH6 NF1
7
Show member pathways
12.18 HRAS NF1 RASA1 RASA2
8 11.99 KIT PDGFRA RET SPRED1
9
Show member pathways
11.93 HRAS NF1 RASA1 RASA2
10 11.82 HRAS KIT MLH1 MSH2 MSH6 PDGFRA
11
Show member pathways
11.81 SDHB SDHC SDHD
12 11.78 HRAS NF1 NF2 PDGFRA
13
Show member pathways
11.75 HRAS RASA1 VHL
14
Show member pathways
11.7 HRAS KIT RET
15
Show member pathways
11.7 MLH1 MSH2 MSH6 PMS2
16
Show member pathways
11.67 HRAS NF1 RASA1 RASA2 SPRED1
17 11.64 MLH1 MSH2 MSH6
18 11.41 NF1 RASA1 RASA2
19 11.4 HRAS NF1 RET
20 11.37 HRAS KIT PDGFRA RET
21 11.25 HRAS RASA1 RET
22 11.23 HRAS RASA1 RET
23 11.15 HRAS NF1 RASA1
24 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Neurofibromatosis, Type 1

Cellular components related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 MutLalpha complex GO:0032389 9.37 MLH1 PMS2
2 mismatch repair complex GO:0032300 9.32 MSH2 PMS2
3 MutSalpha complex GO:0032301 9.26 MSH2 MSH6
4 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.13 NF1 RASA1 RASA2
6 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

Biological processes related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.91 HRAS KIT NF1 PDGFRA RASA1 RASA2
2 positive regulation of cell migration GO:0030335 9.88 HRAS KIT PDGFRA RET
3 regulation of GTPase activity GO:0043087 9.77 NF1 RASA1 RASA2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.72 MLH1 MSH2 MSH6
5 tricarboxylic acid cycle GO:0006099 9.67 SDHB SDHC SDHD
6 negative regulation of Ras protein signal transduction GO:0046580 9.65 NF1 RASA1 RASA2
7 determination of adult lifespan GO:0008340 9.61 MSH2 MSH6
8 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.61 NF1 RET
9 positive regulation of isotype switching to IgG isotypes GO:0048304 9.59 MLH1 MSH2
10 positive regulation of phospholipase C activity GO:0010863 9.58 KIT PDGFRA
11 negative regulation of cell-matrix adhesion GO:0001953 9.58 NF1 NF2 RASA1
12 negative regulation of DNA recombination GO:0045910 9.57 MSH2 MSH6
13 positive regulation of helicase activity GO:0051096 9.56 MSH2 MSH6
14 mismatch repair GO:0006298 9.56 MLH1 MSH2 MSH6 PMS2
15 maintenance of DNA repeat elements GO:0043570 9.52 MSH2 MSH6
16 positive regulation of isotype switching to IgA isotypes GO:0048298 9.51 MLH1 MSH2
17 isotype switching GO:0045190 9.5 MLH1 MSH2 MSH6
18 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.46 MLH1 MSH2
19 negative regulation of MAPK cascade GO:0043409 9.43 NF1 NF2
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
21 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
22 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.24 SDHD
23 MAPK cascade GO:0000165 9.23 HRAS KIT NF1 PDGFRA RASA1 RASA2

Molecular functions related to Neurofibromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.81 MLH1 MSH2 MSH6 PMS2
2 single-stranded DNA binding GO:0003697 9.71 MLH1 MSH2 PMS2
3 electron carrier activity GO:0009055 9.7 SDHB SDHC SDHD
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 KIT PDGFRA RET
5 four-way junction DNA binding GO:0000400 9.55 MSH2 MSH6
6 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
7 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH6
8 ubiquinone binding GO:0048039 9.43 SDHB SDHD
9 MutSalpha complex binding GO:0032407 9.4 MLH1 PMS2
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.37 SDHB SDHD
11 single guanine insertion binding GO:0032142 9.32 MSH2 MSH6
12 succinate dehydrogenase activity GO:0000104 9.26 SDHC SDHD
13 single thymine insertion binding GO:0032143 9.16 MSH2 MSH6
14 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
15 mismatched DNA binding GO:0030983 8.92 MLH1 MSH2 MSH6 PMS2

Sources for Neurofibromatosis, Type 1

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