MCID: NRF024
MIFTS: 63

Neurofibromatosis, Type I

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

Aliases & Classifications for Neurofibromatosis, Type I

MalaCards integrated aliases for Neurofibromatosis, Type I:

Name: Neurofibromatosis, Type I 53
Von Recklinghausen Disease 53 72 71
Neurofibromatosis, Type 1 53 28 13
Neurofibromatosis 1 71 69
Nf1 53 71
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 55
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 55
Neurofibromatosis, Peripheral Type 53
Neurofibromatosis Peripheral Type 71
Von Recklinghausen's Disease 50
Von Recklinghausen Syndrome 71

Characteristics:

OMIM:

53
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:

31
neurofibromatosis, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis, Type I

NINDS : 50 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 I, also known as von recklinghausen disease, is related to neurofibroma and neurofibromatosis, type iv, of riccardi, and has symptoms including seizures, macrocephaly and hypertelorism. An important gene associated with Neurofibromatosis, Type I 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 eye, and related phenotype is digestive/alimentary.

OMIM : 53 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)

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.

Wikipedia : 72 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The... more...

Related Diseases for Neurofibromatosis, Type I

Diseases in the Neurofibromatosis, Type Ii family:

Neurofibromatosis, Type I

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

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 32.3 KIT NF1 PDGFRA
2 neurofibromatosis, type iv, of riccardi 31.8 KIT NF1 PDGFRA RASA1 RASA2
3 malignant peripheral nerve sheath tumor 30.1 KIT NF1 PDGFRA
4 gastrointestinal stromal tumor 30.1 KIT NF1 PDGFRA
5 noonan syndrome 1 30.0 NF1 RASA1 RASA2
6 mismatch repair cancer syndrome 11.1
7 legius syndrome 11.1
8 neurofibromatosis, familial spinal 11.0
9 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.0
10 osteitis fibrosa 11.0
11 adrenal carcinoma 11.0
12 childhood brain stem glioma 11.0
13 malignant spindle cell melanoma 10.4 KIT NF1
14 reticular perineurioma 10.3 KIT PDGFRA
15 plexiform schwannoma 10.3 KIT NF1
16 sm-ahnmd 10.3 KIT PDGFRA
17 gastric leiomyosarcoma 10.3 KIT PDGFRA
18 desmoid tumor 10.3 KIT PDGFRA
19 carney triad 10.3 KIT PDGFRA
20 hypereosinophilic syndrome, idiopathic 10.3 KIT PDGFRA
21 sarcomatoid renal cell carcinoma 10.3 KIT PDGFRA
22 cutaneous ganglioneuroma 10.3 KIT NCAM1
23 conventional fibrosarcoma 10.3 KIT PDGFRA
24 pulmonary vein stenosis 10.3 KIT PDGFRA
25 lung adenoid cystic carcinoma 10.2 KIT PDGFRA
26 undifferentiated pleomorphic sarcoma 10.2 KIT PDGFRA
27 mediastinal cancer 10.2 KIT NCAM1
28 vulvar melanoma 10.2 KIT NF1
29 heart sarcoma 10.2 KIT PDGFRA
30 neurilemmoma 10.2 KIT NF1 PDGFRA
31 angiomyoma 10.2 KIT NCAM1
32 bone marrow cancer 10.2 KIT NF1 PDGFRA
33 chronic eosinophilic leukemia 10.2 KIT PDGFRA
34 small cell neuroendocrine carcinoma 10.2 KIT NCAM1
35 mesenchymal cell neoplasm 10.1 KIT PDGFRA
36 uterine inversion 10.1 KIT OXT
37 endometrial small cell carcinoma 10.1 KIT NCAM1 PDGFRA
38 small cell carcinoma 10.1 KIT NCAM1 PDGFRA
39 plexiform neurofibroma 10.1
40 perineurioma 10.0 KIT NCAM1
41 rete testis neoplasm 9.9 KIT NCAM1
42 astrocytoma 9.8
43 malignant skin fibrous histiocytoma 9.8 KIT NCAM1
44 pheochromocytoma 9.8
45 leukemia 9.8
46 gliosarcoma 9.8
47 cerebritis 9.8
48 pseudo-turner syndrome 9.8
49 medulloblastoma 9.6
50 migraine with or without aura 1 9.6

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



Diseases related to Neurofibromatosis, Type I

Symptoms & Phenotypes for Neurofibromatosis, Type I

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
sphenoid dysplasia

Neurologic Central Nervous System:
hydrocephalus
aqueductal stenosis
learning disabilities (30%)
mental retardation, mild (10%)

Skeletal Spine:
scoliosis
spina bifida

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

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

Cardiovascular Vascular:
hypertension
renal artery stenosis

Neoplasia:
pheochromocytoma
parathyroid adenoma
meningioma
rhabdomyosarcoma
neurofibrosarcoma
more
Skeletal Limbs:
pseudoarthrosis
thinning of long bone cortex
local bony overgrowth


Clinical features from OMIM:

162200

Human phenotypes related to Neurofibromatosis, Type I:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 macrocephaly 31 very rare (1%) HP:0000256
3 hypertelorism 31 HP:0000316
4 genu valgum 31 very rare (1%) HP:0002857
5 hydrocephalus 31 HP:0000238
6 hypertension 31 HP:0000822
7 aqueductal stenosis 31 very rare (1%) HP:0002410
8 scoliosis 31 very rare (1%) HP:0002650
9 short stature 31 very rare (1%) HP:0004322
10 intellectual disability, mild 31 HP:0001256
11 specific learning disability 31 very rare (1%) HP:0001328
12 glaucoma 31 very rare (1%) HP:0000501
13 pheochromocytoma 31 very rare (1%) HP:0002666
14 spina bifida 31 HP:0002414
15 parathyroid adenoma 31 HP:0002897
16 astrocytoma 31 HP:0009592
17 meningioma 31 very rare (1%) HP:0002858
18 rhabdomyosarcoma 31 HP:0002859
19 cafe-au-lait spot 31 very rare (1%) HP:0000957
20 overgrowth 31 HP:0001548
21 hypsarrhythmia 31 very rare (1%) HP:0002521
22 neurofibrosarcoma 31 HP:0100697
23 plexiform neurofibroma 31 very rare (1%) HP:0009732
24 spinal neurofibromas 31 very rare (1%) HP:0009735
25 renal artery stenosis 31 very rare (1%) HP:0001920
26 axillary freckling 31 HP:0000997
27 inguinal freckling 31 HP:0030052
28 lisch nodules 31 very rare (1%) HP:0009737
29 optic nerve glioma 31 very rare (1%) HP:0009734
30 tibial pseudoarthrosis 31 very rare (1%) HP:0009736

UMLS symptoms related to Neurofibromatosis, Type I:


neuralgia

MGI Mouse Phenotypes related to Neurofibromatosis, Type I:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.1 KIT NF1 OXT PDGFRA RASA1 CASK

Drugs & Therapeutics for Neurofibromatosis, Type I

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

(show top 50) (show all 183)
# 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 20748-11-2, 113-45-1 4158
3
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
5
Palbociclib Approved, Investigational Phase 4,Phase 2,Phase 1 571190-30-2 5330286 11431660 5005498
6
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 46835353 6436030 5284616
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,Phase 1 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,Phase 2 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,Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
19 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
21 Central Nervous System Stimulants Phase 4
22 Dopamine Agents Phase 4
23 Dopamine Uptake Inhibitors Phase 4
24 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Neurotransmitter Uptake Inhibitors Phase 4
26 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Early Phase 1
28 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
29
Erlotinib Hydrochloride Phase 4,Phase 2,Phase 1 183319-69-9 176871
30 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 123596
31 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
32 Poly(ADP-ribose) Polymerase Inhibitors Phase 4,Phase 2
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 2713 9552079
37
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
38 Orange Approved, Nutraceutical Phase 3
39 Analgesics Phase 3,Phase 2,Phase 1
40 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
41 Adrenergic Agents Phase 3,Phase 1
42 Adrenergic alpha-1 Receptor Antagonists Phase 3,Phase 1
43 Adrenergic alpha-Antagonists Phase 3,Phase 1
44 Adrenergic Antagonists Phase 3,Phase 1
45 Carboxymethylcellulose Sodium Phase 3,Phase 1,Phase 2
46 Anticonvulsants Phase 2, Phase 3, Phase 1
47 calcium channel blockers Phase 2, Phase 3, Phase 1
48 Calcium, Dietary Phase 2, Phase 3, Phase 1
49 Anti-Anxiety Agents Phase 3,Phase 1
50 Central Nervous System Depressants Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 183)

# 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 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
11 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
12 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
13 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
14 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
15 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
16 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
17 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
18 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
19 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
20 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
21 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
22 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
23 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
24 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
25 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
26 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
27 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
28 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
29 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
30 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
31 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
32 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)
33 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
34 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
35 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2 Axitinib
36 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
37 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
38 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
39 Trametinib in Patients With Advanced Neurofibromatosis Type 1 (NF1)-Mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib
40 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2 Icotinib
41 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
42 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
43 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
44 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2 AZD6244
45 Phase I/II Study of MEK162 for Children With Ras/Raf Pathway Activated Tumors Recruiting NCT02285439 Phase 1, Phase 2 MEK162
46 Study of CPI-0610 in Patients With Malignant Peripheral Nerve Sheath Tumors Recruiting NCT02986919 Phase 2 CPI-0610
47 Vinblastine +/- Bevacizumab in Children With Unresectable or Progressive Low Grade Glioma (LGG) Recruiting NCT02840409 Phase 2 Vinblastine;Bevacizumab
48 Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
49 Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
50 TAK-580 In Gliomas and Other Tumors Recruiting NCT03429803 Phase 1, Phase 2 TAK-580

Search NIH Clinical Center for Neurofibromatosis, Type I

Genetic Tests for Neurofibromatosis, Type I

Genetic tests related to Neurofibromatosis, Type I:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 1 28 NF1

Anatomical Context for Neurofibromatosis, Type I

MalaCards organs/tissues related to Neurofibromatosis, Type I:

38
Skin, Brain, Eye, Bone, Spinal Cord, Lung, Cortex

Publications for Neurofibromatosis, Type I

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 124)
# Title Authors Year
1
A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I. ( 29356944 )
2018
2
Incremental value of multiparametric whole-body MR imaging over whole spine magnetic resonance imaging in Neurofibromatosis type I patients. ( 28939538 )
2017
3
Medium throughput biochemical compound screening identifies novel agents for pharmacotherapy of neurofibromatosis type I. ( 28065690 )
2017
4
Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants. ( 28924536 )
2017
5
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. ( 27482814 )
2016
6
Zollinger-Ellison Syndrome Associated with von Recklinghausen Disease: Case Report and Literature Review. ( 27292293 )
2016
7
Chemotherapy benefit for paediatric neurofibromatosis type I. ( 27151167 )
2016
8
Pseudoarthrosis of the Ulna in Neurofibromatosis Type I. ( 27453377 )
2016
9
Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient. ( 27847582 )
2016
10
Linear scleroderma associated with neurofibromatosis type I. ( 26367758 )
2015
11
Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I. ( 26511941 )
2015
12
Rhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort. ( 25893277 )
2015
13
Type 1 neurofibromatosis (von Recklinghausen disease). ( 26562280 )
2015
14
Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I. ( 26345759 )
2015
15
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. ( 24413922 )
2014
16
Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland. ( 25166435 )
2014
17
Piebaldism with neurofibromatosis type I: a familial case. ( 24882989 )
2014
18
Microarraya89based identification of nerve growtha89promoting genes in neurofibromatosis type I. ( 24213587 )
2014
19
Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link? ( 25234363 )
2014
20
Familial male-limited precocious puberty in neurofibromatosis type I. ( 23982246 )
2014
21
Endoscopic ultrasound-guided fine-needle aspiration diagnosis of mixed endocrine somatostatinoma of the minor papilla in von Recklinghausen disease. ( 25526415 )
2014
22
Von Recklinghausen disease (neurofibromatosis type 1): beyond skin involvement. ( 24132442 )
2013
23
Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series. ( 23812245 )
2013
24
Malignant peripheral nerve sheath tumor of non-neurofibromatosis type I metastasized to the cerebrospinal axis. ( 23634272 )
2013
25
Unilateral Lisch nodules in a 47-year-old woman without other stigmata of neurofibromatosis type I: an example of segmental neurofibromatosis? ( 23205842 )
2013
26
Puberty and Plexiform Neurofibroma Tumor Growth in Patients with Neurofibromatosis Type I. ( 24321536 )
2013
27
Mediastinal Neurofibroma Originating from the Pulmonary Branch of the Right Vagus Nerve in a Patient without von Recklinghausen Disease. ( 25360408 )
2013
28
Depletion of the novel p53-target gene carnitine palmitoyltransferase 1C delays tumor growth in the neurofibromatosis type I tumor model. ( 23412344 )
2013
29
Chest wall angiolipoma complicating von Recklinghausen disease. ( 23992735 )
2013
30
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. ( 23913538 )
2013
31
Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case. ( 23744851 )
2013
32
Notching in the posterior border of the ramus of mandible in a patient with neurofibromatosis type I - a case report. ( 24298539 )
2013
33
Diffusion-tensor imaging derived metrics of the corpus callosum in children with neurofibromatosis type I. ( 23255740 )
2013
34
Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas. ( 22961690 )
2013
35
Behavior of advanced gastrointestinal stromal tumor in a patient with von-Recklinghausen disease: Case report. ( 23936759 )
2013
36
Lung cancer associated with neurofibromatosis type I. ( 23533906 )
2013
37
Nutraceuticals safety and efficacy in migraine without aura in a population of children affected by neurofibromatosis type I. ( 23532548 )
2013
38
Pheochromocytoma and gastrointestinal stromal tumors in patients with neurofibromatosis type I. ( 23331445 )
2013
39
Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation. ( 24218100 )
2013
40
Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review. ( 23162593 )
2012
41
Central nervous system lymphoma occurring in a patient with neurofibromatosis type 1 (von Recklinghausen disease). ( 22294052 )
2012
42
Metachronous occurrence of nonradiation-induced brain cavernous hemangioma and medulloblastoma in a child with neurofibromatosis type I phenotype. ( 22837778 )
2012
43
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. ( 22294457 )
2012
44
Recurrent retroperitoneal liposarcoma in a patient with neurofibromatosis type I. ( 22675153 )
2012
45
Detecting anxiety symptoms in children and youths with neurofibromatosis type I. ( 22911924 )
2012
46
Unilateral gingival enlargement in patient with neurofibromatosis type I. ( 23488326 )
2012
47
A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I. ( 22751808 )
2012
48
Rapidly growing ulcer in a patient with neurofibromatosis type I. ( 22444509 )
2012
49
Neurofibromatosis, type 1 (von Recklinghausen disease). ( 21434506 )
2011
50
Intraoral plexiform neurofibroma involving the maxilla - pathognomonic of neurofibromatosis type I. ( 21977094 )
2011

Variations for Neurofibromatosis, Type I

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

71 (show top 50) (show all 79)
# 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 I:

6 (show top 50) (show all 490)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
2 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514641 GRCh37 Chromosome 17, 29497003: 29497003
3 NF1 NM_000267.3(NF1): c.1595T> C (p.Leu532Pro) single nucleotide variant Pathogenic rs199474737 GRCh37 Chromosome 17, 29546090: 29546090
4 NF1 NM_001042492.2(NF1): c.1748A> G (p.Lys583Arg) single nucleotide variant Pathogenic rs199474760 GRCh37 Chromosome 17, 29550488: 29550488
5 NF1 NM_001042492.2(NF1): c.1885G> A (p.Gly629Arg) single nucleotide variant Pathogenic rs199474738 GRCh37 Chromosome 17, 29552152: 29552152
6 NF1 NM_001042492.2(NF1): c.2288T> C (p.Leu763Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199474762 GRCh37 Chromosome 17, 29554272: 29554272
7 NF1 NM_001042492.2(NF1): c.2339C> A (p.Thr780Lys) single nucleotide variant Pathogenic/Likely pathogenic rs199474746 GRCh37 Chromosome 17, 29554554: 29554554
8 NF1 NM_001042492.2(NF1): c.2540T> C (p.Leu847Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199474747 GRCh37 Chromosome 17, 29556173: 29556173
9 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
10 NF1 NM_001042492.2(NF1): c.4465A> G (p.Ser1489Gly) single nucleotide variant Pathogenic/Likely pathogenic rs199474743 GRCh37 Chromosome 17, 29587421: 29587421
11 NF1 NM_001042492.2(NF1): c.479G> C (p.Arg160Thr) single nucleotide variant Likely pathogenic rs199474752 GRCh37 Chromosome 17, 29490394: 29490394
12 NF1 NM_001042492.2(NF1): c.5854T> C (p.Trp1952Arg) single nucleotide variant Likely pathogenic rs199474791 GRCh37 Chromosome 17, 29661897: 29661897
13 NF1 NM_001042492.2(NF1): c.1392+1G> A single nucleotide variant Likely pathogenic rs267604791 GRCh37 Chromosome 17, 29533390: 29533390
14 NF1 NM_001042492.2(NF1): c.2033dupC (p.Ile679Aspfs) duplication Pathogenic rs587781807 GRCh37 Chromosome 17, 29553484: 29553484
15 NF1 NM_001042492.2(NF1): c.5839G> T (p.Glu1947Ter) single nucleotide variant Pathogenic rs587782088 GRCh37 Chromosome 17, 29661882: 29661882
16 NF1 NM_001042492.2(NF1): c.55G> T (p.Glu19Ter) single nucleotide variant Pathogenic rs786203307 GRCh37 Chromosome 17, 29422382: 29422382
17 NF1 NM_001042492.2(NF1): c.499_502delTGTT (p.Cys167Glnfs) deletion Pathogenic rs786201874 GRCh37 Chromosome 17, 29496928: 29496931
18 NF1 NM_001042492.2(NF1): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs786203448 GRCh37 Chromosome 17, 29508478: 29508478
19 NF1 NM_001042492.2(NF1): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs786203950 GRCh37 Chromosome 17, 29527461: 29527461
20 NF1 NM_001042492.2(NF1): c.1756_1759delACTA (p.Thr586Valfs) deletion Pathogenic rs786202782 GRCh37 Chromosome 17, 29550496: 29550499
21 NF1 NM_001042492.2(NF1): c.3457_3460delCTCA (p.Leu1153Metfs) deletion Pathogenic/Likely pathogenic rs786202594 GRCh37 Chromosome 17, 29559860: 29559863
22 NF1 NM_001042492.2(NF1): c.5609G> A (p.Arg1870Gln) single nucleotide variant Pathogenic rs786202112 GRCh37 Chromosome 17, 29654857: 29654857
23 NF1 NM_001042492.2(NF1): c.6855C> A (p.Tyr2285Ter) single nucleotide variant Pathogenic rs772295894 GRCh37 Chromosome 17, 29665757: 29665757
24 NF1 NM_001042492.2(NF1): c.7348C> T (p.Arg2450Ter) single nucleotide variant Pathogenic rs786202457 GRCh37 Chromosome 17, 29677227: 29677227
25 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh37 Chromosome 17, 29684326: 29684326
26 NF1 NM_000267.3(NF1): c.1732_1733insT (p.Tyr580Leufs) duplication Pathogenic rs786204255 GRCh37 Chromosome 17, 29550473: 29550473
27 NF1 NM_000267.3(NF1): c.1782_1783delAG (p.Glu595Asnfs) deletion Pathogenic rs786204059 GRCh37 Chromosome 17, 29550522: 29550523
28 NF1 NM_000267.3(NF1): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs768638173 GRCh37 Chromosome 17, 29553492: 29553492
29 NF1 NM_000267.3(NF1): c.2294_2300delGCATTGA (p.Glu767Profs) deletion Pathogenic rs786204154 GRCh38 Chromosome 17, 31227260: 31227266
30 NF1 NM_000267.3(NF1): c.3494T> A (p.Ile1165Lys) single nucleotide variant Pathogenic rs786204211 GRCh37 Chromosome 17, 29559897: 29559897
31 NF1 NM_000267.3(NF1): c.3500T> G (p.Leu1167Ter) single nucleotide variant Pathogenic rs786204253 GRCh37 Chromosome 17, 29560023: 29560023
32 NF1 NM_000267.3(NF1): c.4269+2T> C single nucleotide variant Likely pathogenic rs786204207 GRCh37 Chromosome 17, 29585522: 29585522
33 NF1 NM_000267.3(NF1): c.4277A> G (p.Gln1426Arg) single nucleotide variant Likely pathogenic rs786204157 GRCh37 Chromosome 17, 29586057: 29586057
34 NF1 NF1, 1-BP DEL, 4071C deletion Pathogenic
35 NF1 NF1, ALU INS insertion Pathogenic
36 NF1 NF1, 5-BP DEL deletion Pathogenic
37 NF1 NM_001042492.2(NF1): c.5858T> C (p.Leu1953Pro) single nucleotide variant Pathogenic rs199474792 GRCh37 Chromosome 17, 29661901: 29661901
38 NF1 NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter) single nucleotide variant Pathogenic rs267606595 GRCh37 Chromosome 17, 29661951: 29661951
39 NF1 NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs) duplication Pathogenic rs267606596 GRCh37 Chromosome 17, 29654759: 29654759
40 NF1 NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs) insertion Pathogenic rs267606597 GRCh37 Chromosome 17, 29654776: 29654777
41 NF1 NM_000267.3(NF1): c.6427C> A (p.Leu2143Met) single nucleotide variant Pathogenic rs137854551 GRCh37 Chromosome 17, 29664448: 29664448
42 NF1 NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn) single nucleotide variant Pathogenic rs267606598 GRCh37 Chromosome 17, 29664532: 29664532
43 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
44 NF1 NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter) single nucleotide variant Pathogenic rs137854560 GRCh37 Chromosome 17, 29576111: 29576111
45 NF1 NM_000267.3(NF1): c.3113+1G> A single nucleotide variant Pathogenic rs267606599 GRCh37 Chromosome 17, 29557401: 29557401
46 NF1 NM_001042492.2(NF1): c.1541_1542delAG (p.Gln514Argfs) deletion Pathogenic rs267606600 GRCh37 Chromosome 17, 29546036: 29546037
47 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Pathogenic rs137854553 GRCh37 Chromosome 17, 29557391: 29557391
48 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Pathogenic rs137854554 GRCh37 Chromosome 17, 29585424: 29585424
49 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
50 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747

Expression for Neurofibromatosis, Type I

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

Pathways for Neurofibromatosis, Type I

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 KIT NCAM1 NF1 PDGFRA RASA1 RASA2
2
Show member pathways
12.91 IL12RB1 KIT NCAM1 NF1 PDGFRA RASA1
3 12.38 KIT NF1 PDGFRA RASA1 RASA2
4
Show member pathways
12.2 KIT NF1 PDGFRA RASA1 RASA2
5 11.84 KIT PDGFRA YWHAH
6
Show member pathways
11.79 NF1 RASA1 RASA2
7
Show member pathways
11.75 NF1 RASA1 RASA2
8 11.45 IL12RB1 KIT NCAM1
9
Show member pathways
11.34 NF1 RASA1 RASA2
10 10.86 KIT NCAM1 PDGFRA
11 10.44 CASK NF1 RASA1 SDC2

GO Terms for Neurofibromatosis, Type I

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

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 8.8 NF1 RASA1 RASA2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of GTPase activity GO:0043087 9.5 NF1 RASA1 RASA2
2 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.4 KIT PDGFRA
3 positive regulation of JAK-STAT cascade GO:0046427 9.37 CRLF3 KIT
4 negative regulation of Ras protein signal transduction GO:0046580 9.33 NF1 RASA1 RASA2
5 positive regulation of phospholipase C activity GO:0010863 9.26 KIT PDGFRA
6 negative regulation of cell-matrix adhesion GO:0001953 9.13 CASK NF1 RASA1
7 MAPK cascade GO:0000165 9.1 KIT NCAM1 NF1 PDGFRA RASA1 RASA2

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 KIT NCAM1 PDGFRA

Sources for Neurofibromatosis, Type I

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