Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
NF1
MCID: NRF024
MIFTS: 68

Neurofibromatosis, Type I (NF1)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Neurofibromatosis, Type I

About this section

MalaCards integrated aliases for Neurofibromatosis, Type I:

Name: Neurofibromatosis, Type I 57
Neurofibromatosis, Type 1 57 29 13 6 40
Von Recklinghausen Disease 57 76 75
Neurofibromatosis 1 75 73
Nf1 57 75
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 59
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 59
Neurofibromatosis, Peripheral Type 57
Neurofibromatosis Peripheral Type 75
Von Recklinghausen's Disease 54
Von Recklinghausen Syndrome 75

Characteristics:

OMIM:

57
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 i:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Bone diseases Skin diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Neurofibromatosis, Type I

About this section
NINDS : 54 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 neurofibromatosis, type 1, is related to neurofibromatosis, type iv, of riccardi and neurofibroma, and has symptoms including neuralgia 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 Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 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 : 75 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 : 76 Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a... more...

Sources

Related Diseases for Neurofibromatosis, Type I

About this section

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 532)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 32.5 RASA2 RASA1 PDGFRA NF1 KIT CDKN2B-AS1
2 neurofibroma 32.4 PDGFRA NF1 KIT
3 malignant spindle cell melanoma 32.2 KIT NF1
4 plexiform schwannoma 31.7 KIT NF1
5 neurilemmoma 31.7 PDGFRA NF1 KIT
6 bone marrow cancer 31.5 KIT NF1 PDGFRA
7 vulvar melanoma 31.3 KIT NF1
8 plexiform neurofibroma 30.4 CDKN2B-AS1 NF1
9 malignant peripheral nerve sheath tumor 30.1 PDGFRA NF1 KIT
10 perineurioma 30.0 KIT NCAM1
11 gastrointestinal stromal tumor 29.9 PDGFRA NF1 NCAM1 KIT
12 carney triad 29.8 KIT PDGFRA
13 undifferentiated pleomorphic sarcoma 29.7 KIT PDGFRA
14 chromosome 17q11.2 deletion syndrome 12.1
15 neurofibromatosis-noonan syndrome 12.0
16 watson syndrome 11.9
17 juvenile myelomonocytic leukemia 11.6
18 neurofibromatosis, type ii 11.5
19 autosomal dominant café au lait spots 11.5
20 colorectal cancer 11.5
21 myelodysplastic syndrome 11.4
22 insulinoma 11.4
23 optic nerve glioma 11.4
24 chronic myelomonocytic leukemia 11.4
25 paraganglioma 11.4
26 learning disability 11.3
27 von hippel-lindau syndrome 11.3
28 mucosal melanoma 11.3
29 ectropion 11.3
30 elephantiasis 11.3
31 mismatch repair cancer syndrome 11.3
32 legius syndrome 11.3
33 cafe-au-lait spots, multiple 11.2
34 moyamoya disease 1 11.2
35 pulmonic stenosis 11.2
36 osteofibrous dysplasia 11.2
37 peripheral nervous system neoplasm 11.2
38 neurilemmomatosis 11.2
39 malignant triton tumor 11.2
40 urachal adenocarcinoma 11.2
41 sporadic pheochromocytoma 11.2
42 neurofibromatosis, familial spinal 11.1
43 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.1
44 osteitis fibrosa 11.1
45 adrenal carcinoma 11.1
46 childhood brain stem glioma 11.1
47 hyaline fibromatosis syndrome 11.1
48 spinal cancer 11.1
49 hereditary paraganglioma-pheochromocytoma syndromes 11.1
50 brain and spinal tumors 11.1

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



Diseases related to Neurofibromatosis, Type I
Sources

Symptoms & Phenotypes for Neurofibromatosis, Type I

About this section

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) HP:0000256
2 hypertelorism 32 HP:0000316
3 genu valgum 32 HP:0002857
4 hydrocephalus 32 HP:0000238
5 hypertension 32 HP:0000822
6 seizures 32 very rare (1%) HP:0001250
7 aqueductal stenosis 32 HP:0002410
8 scoliosis 32 very rare (1%) HP:0002650
9 short stature 32 very rare (1%) HP:0004322
10 intellectual disability, mild 32 HP:0001256
11 specific learning disability 32 very rare (1%) HP:0001328
12 glaucoma 32 HP:0000501
13 pheochromocytoma 32 very rare (1%) HP:0002666
14 multiple cafe-au-lait spots 32 very rare (1%) HP:0007565
15 spina bifida 32 very rare (1%) HP:0002414
16 parathyroid adenoma 32 HP:0002897
17 astrocytoma 32 HP:0009592
18 meningioma 32 HP:0002858
19 rhabdomyosarcoma 32 HP:0002859
20 overgrowth 32 HP:0001548
21 hypsarrhythmia 32 HP:0002521
22 neurofibrosarcoma 32 HP:0100697
23 plexiform neurofibroma 32 very rare (1%) HP:0009732
24 spinal neurofibromas 32 very rare (1%) HP:0009735
25 renal artery stenosis 32 very rare (1%) HP:0001920
26 axillary freckling 32 very rare (1%) HP:0000997
27 inguinal freckling 32 very rare (1%) HP:0030052
28 lisch nodules 32 very rare (1%) HP:0009737
29 optic nerve glioma 32 very rare (1%) HP:0009734
30 tibial pseudoarthrosis 32 very rare (1%) HP:0009736

UMLS symptoms related to Neurofibromatosis, Type I:


neuralgia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.5 PDGFRA
2 Decreased viability GR00221-A-1 9.5 NF1 PDGFRA
3 Decreased viability GR00221-A-2 9.5 NF1
4 Decreased viability GR00221-A-3 9.5 PDGFRA RASA1
5 Decreased viability GR00221-A-4 9.5 NF1 PDGFRA RASA1 RASA2
6 Decreased viability GR00381-A-1 9.5 RASA1
7 Decreased viability GR00402-S-2 9.5 NF1 PDGFRA RASA1 RASA2

MGI Mouse Phenotypes related to Neurofibromatosis, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.1 CASK KIT NF1 OXT PDGFRA RASA1
Sources

Drugs & Therapeutics for Neurofibromatosis, Type I

About this section

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

(show top 50) (show all 207)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
2
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 46835353 6436030 5284616
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6
Sunitinib Approved, Investigational Phase 4,Phase 2 557795-19-4, 341031-54-7 5329102
7
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
8
Palbociclib Approved, Investigational Phase 4,Phase 2,Phase 1 571190-30-2 11431660 5330286 5005498
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12
Trametinib Approved Phase 4,Phase 2,Phase 1 871700-17-3 11707110
13
Olaparib Approved Phase 4,Phase 2 763113-22-0 23725625
14
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
15
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
16
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
17
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
18
Ceritinib Approved Phase 4 1032900-25-6
19
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
20
Ramucirumab Approved, Investigational Phase 4 947687-13-0
21
Lapatinib Approved March 2007, Investigational Phase 4,Phase 2,Early Phase 1 388082-78-8, 231277-92-2 208908 9941095
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
24 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
25 Immunologic Factors Phase 4,Phase 2,Phase 1,Early Phase 1
26 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
27 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Early Phase 1
30 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
31 Central Nervous System Stimulants Phase 4,Not Applicable
32 Neurotransmitter Uptake Inhibitors Phase 4
33 Dopamine Uptake Inhibitors Phase 4
34 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Dopamine Agents Phase 4
36 Adrenergic Agents Phase 4,Phase 3,Phase 1
37 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
38 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
39
Erlotinib Hydrochloride Phase 4,Phase 2,Phase 1 183319-69-9 176871
40 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 220127-57-1 123596
41 Anesthetics, Intravenous Phase 4
42 Hypnotics and Sedatives Phase 4
43
Glycopyrrolate Phase 4 596-51-0 3494
44 Adrenergic alpha-2 Receptor Agonists Phase 4
45 Adrenergic alpha-Agonists Phase 4
46 Anesthetics Phase 4
47 Adrenergic Agonists Phase 4
48 Anesthetics, General Phase 4
49 Poly(ADP-ribose) Polymerase Inhibitors Phase 4,Phase 2
50
Tamsulosin Approved, Investigational Phase 3,Phase 1 106133-20-4 129211

Interventional clinical trials:

(show top 50) (show all 201)
# 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 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
3 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
4 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
5 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
6 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;Placebo
7 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
8 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
9 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
10 MOLECULAR PROFILING OF ADVANCED SOFT-TISSUE SARCOMAS Not yet recruiting NCT03784014 Phase 3 Nilotinib;Ceritinib;Capmatinib;Lapatinib;Trametinib;Palbociclib;Glasdegib;TAS-120
11 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
12 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
13 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Unknown status NCT01661283 Phase 2 everolimus;bevacizumab
14 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
15 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin â„¢
16 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
17 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
18 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
19 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Completed NCT02096471 Phase 2 PD-0325901
20 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
21 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
22 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
23 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
24 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
25 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
26 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
27 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
28 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
29 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
30 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
31 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
32 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
33 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
34 SARC023: Ganetespib and Sirolimos in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
35 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
36 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
37 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
38 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
39 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)
40 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
41 Treatment of NF1-related Plexiform Neurofibroma With Trametinib Recruiting NCT03741101 Phase 2 Trametinib
42 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
43 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
44 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2 Axitinib
45 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
46 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
47 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
48 Trametinib in Patients With Advanced Neurofibromatosis Type 1 (NF1)-Mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib
49 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2 Icotinib
50 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate

Search NIH Clinical Center for Neurofibromatosis, Type I

Sources

Genetic Tests for Neurofibromatosis, Type I

About this section

Genetic tests related to Neurofibromatosis, Type I:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 1 29 NF1
Sources

Anatomical Context for Neurofibromatosis, Type I

About this section

MalaCards organs/tissues related to Neurofibromatosis, Type I:

41
Skin, Brain, Eye, Bone, Spinal Cord, Breast, Lung
Sources

Publications for Neurofibromatosis, Type I

About this section

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 1610)
# Title Authors Year
1
Dramatic response to trametinib in a male child with neurofibromatosis type 1 and refractory astrocytoma. ( 30251337 )
2019
2
Amusia and its electrophysiological correlates in neurofibromatosis type 1. ( 29898074 )
2018
3
Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods. ( 29097016 )
2018
4
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. ( 29704429 )
2018
5
A combination of skeletal deformations of the dorsal mandible and temporomandibular region detected in orthopantomograms of patients with neurofibromatosis type 1 indicates an associated ipsilateral plexiform neurofibroma. ( 29764701 )
2018
6
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. ( 29449315 )
2018
7
Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome. ( 29970534 )
2018
8
High-concentration topical capsaicin in the management of refractory neuropathic pain in patients with neurofibromatosis type 1: a case series. ( 29368950 )
2018
9
A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1. ( 29536368 )
2018
10
Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial UK cohort. ( 29343527 )
2018
11
Immunohistochemical analysis of epigenetic factors to differentiate malignant peripheral nerve sheath tumor from benign neurofibroma in a patient with mosaic neurofibromatosis type 1: H3 lysine 27 trimethylation stain and enhancer of zeste homolog 2 stain. ( 29687471 )
2018
12
A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I. ( 29356944 )
2018
13
Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. ( 29294511 )
2018
14
Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. ( 29398874 )
2018
15
Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1. ( 29977746 )
2018
16
Simultaneous supratentorial and infratentorial pilocytic astrocytoma in an adult patient with concurrent neurofibromatosis type 1 and HIV infection. ( 29908379 )
2018
17
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
18
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. ( 29973652 )
2018
19
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. ( 29893754 )
2018
20
Neurofibromatosis type 1 and optic pathway glioma: Molecular interplay and therapeutic insights. ( 29049847 )
2018
21
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
2018
22
Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas. ( 29600694 )
2018
23
Intraorbital ancient pilocytic astrocytoma of the optic nerve in neurofibromatosis type 1 patient presenting with sudden ocular pain. ( 29511546 )
2018
24
Communicating hydrocephalus and coexisting nonenhancing tumor: An ominous sign for patients with neurofibromatosis type 1? ( 29682141 )
2018
25
Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly. ( 29215515 )
2018
26
Subarachnoid Hemorrhage from Vertebral Arteriovenous Fistula without Perimedullary Drainage: Rare Stroke Hemorrhagic Event in a Patient of Neurofibromatosis Type 1. ( 29479040 )
2018
27
Attention Deficit Hyperactivity Disorder in Neurofibromatosis Type 1: Evaluation with a Continuous Performance Test. ( 29629523 )
2018
28
Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms. ( 30447756 )
2018
29
Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis. ( 30097761 )
2018
30
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1). ( 29423604 )
2018
31
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation. ( 30530636 )
2018
32
Neurofibromatosis Type 1 Vasculopathy Presenting as Impending Central Retinal Artery Occlusion. ( 30540635 )
2018
33
Epilepsy surgery for a patient with neurofibromatosis type 1 concomitant with moyamoya syndrome. ( 30381160 )
2018
34
Duodenal neuroendocrine tumor, adenocarcinoma and gastrointestinal stromal tumor in association with neurofibromatosis type 1: An unique occurrence. ( 30004065 )
2018
35
Malignant Conversion to Glioblastoma in Neurofibromatosis Type I-associated Pleomorphic Xanthoastrocytoma: Unknown Predictors of Favorable Outcome. ( 30283557 )
2018
36
Prevalence of Strabismus Among Children With Neurofibromatosis Type 1 Disease With and Without Optic Pathway Glioma. ( 30371910 )
2018
37
Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. ( 30087692 )
2018
38
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. ( 30466240 )
2018
39
Parathyroid Carcinoma Causing Mild Hyperparathyroidism in Neurofibromatosis Type 1: A Case Report and Systematic Review. ( 30198445 )
2018
40
Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1. ( 29623209 )
2018
41
Diffuse lung disease associated with neurofibromatosis type-1 can also affect children. ( 29516392 )
2018
42
A recurrent laryngeal nerve malignant peripheral nerve sheath tumor in a child with neurofibromatosis type 1. ( 30365627 )
2018
43
Natural History of Medulloblastoma in a Child with Neurofibromatosis Type I. ( 30283582 )
2018
44
THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1. ( 29079545 )
2018
45
An Autopsy Case of Sudden Death in Neurofibromatosis Type 1 With Pheochromocytoma and Myocarditis. ( 29210711 )
2018
46
Dietary intervention rescues myopathy associated with neurofibromatosis type 1. ( 29228356 )
2018
47
Pigmented (melanotic) diffuse neurofibroma of the back in neurofibromatosis type 1. ( 30112270 )
2018
48
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2018
49
Giant plexiform neurofibroma in neurofibromatosis type 1. ( 30246960 )
2018
50
Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma. ( 30413310 )
2018
Sources

Variations for Neurofibromatosis, Type I

About this section

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

75 (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 rs106050031
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 5292)
# 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_001042492.2(NF1): c.5858T> C (p.Leu1953Pro) single nucleotide variant Pathogenic rs199474792 GRCh38 Chromosome 17, 31334883: 31334883
5 NF1 NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter) single nucleotide variant Pathogenic rs267606595 GRCh37 Chromosome 17, 29661951: 29661951
6 NF1 NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter) single nucleotide variant Pathogenic rs267606595 GRCh38 Chromosome 17, 31334933: 31334933
7 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
8 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
9 NF1 NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs) duplication Pathogenic rs267606596 GRCh37 Chromosome 17, 29654759: 29654759
10 NF1 NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs) duplication Pathogenic rs267606596 GRCh38 Chromosome 17, 31327741: 31327741
11 NF1 NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs) insertion Pathogenic rs267606597 GRCh37 Chromosome 17, 29654776: 29654777
12 NF1 NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs) insertion Pathogenic rs267606597 GRCh38 Chromosome 17, 31327758: 31327759
13 NF1 NM_000267.3(NF1): c.6427C> A (p.Leu2143Met) single nucleotide variant Pathogenic rs137854551 GRCh37 Chromosome 17, 29664448: 29664448
14 NF1 NM_000267.3(NF1): c.6427C> A (p.Leu2143Met) single nucleotide variant Pathogenic rs137854551 GRCh38 Chromosome 17, 31337430: 31337430
15 NF1 NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn) single nucleotide variant Pathogenic rs267606598 GRCh37 Chromosome 17, 29664532: 29664532
16 NF1 NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn) single nucleotide variant Pathogenic rs267606598 GRCh38 Chromosome 17, 31337514: 31337514
17 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
18 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh38 Chromosome 17, 31334927: 31334927
19 NF1 NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter) single nucleotide variant Pathogenic rs137854560 GRCh37 Chromosome 17, 29576111: 29576111
20 NF1 NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter) single nucleotide variant Pathogenic rs137854560 GRCh38 Chromosome 17, 31249093: 31249093
21 NF1 NM_000267.3(NF1): c.3113+1G> A single nucleotide variant Pathogenic rs267606599 GRCh37 Chromosome 17, 29557401: 29557401
22 NF1 NM_000267.3(NF1): c.3113+1G> A single nucleotide variant Pathogenic rs267606599 GRCh38 Chromosome 17, 31230383: 31230383
23 NF1 NM_001042492.2(NF1): c.1541_1542delAG (p.Gln514Argfs) deletion Pathogenic rs267606600 GRCh37 Chromosome 17, 29546036: 29546037
24 NF1 NM_001042492.2(NF1): c.1541_1542delAG (p.Gln514Argfs) deletion Pathogenic rs267606600 GRCh38 Chromosome 17, 31219018: 31219019
25 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Uncertain significance rs137854553 GRCh37 Chromosome 17, 29557391: 29557391
26 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Uncertain significance rs137854553 GRCh38 Chromosome 17, 31230373: 31230373
27 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Likely pathogenic rs137854554 GRCh37 Chromosome 17, 29585424: 29585424
28 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Likely pathogenic rs137854554 GRCh38 Chromosome 17, 31258406: 31258406
29 NF1 NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter) single nucleotide variant Pathogenic rs137854555 GRCh37 Chromosome 17, 29588828: 29588828
30 NF1 NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter) single nucleotide variant Pathogenic rs137854555 GRCh38 Chromosome 17, 31261810: 31261810
31 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
32 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh38 Chromosome 17, 31221842: 31221842
33 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
34 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh38 Chromosome 17, 31235729: 31235729
35 NF1 NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Pathogenic rs137854557 GRCh37 Chromosome 17, 29541542: 29541542
36 NF1 NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Pathogenic rs137854557 GRCh38 Chromosome 17, 31214524: 31214524
37 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh37 Chromosome 17, 29541599: 29541599
38 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh38 Chromosome 17, 31214581: 31214581
39 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh37 Chromosome 17, 29528504: 29528504
40 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh38 Chromosome 17, 31201486: 31201486
41 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh37 Chromosome 17, 29576048: 29576048
42 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh38 Chromosome 17, 31249030: 31249030
43 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
44 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh38 Chromosome 17, 31336328: 31336328
45 NF1 NF1, DEL deletion Pathogenic
46 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh37 Chromosome 17, 29562641: 29562641
47 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh38 Chromosome 17, 31235623: 31235623
48 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
49 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
50 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
Sources

Expression for Neurofibromatosis, Type I

About this section
Search GEO for disease gene expression data for Neurofibromatosis, Type I.
Sources

Pathways for Neurofibromatosis, Type I

About this section

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.19 KIT NCAM1 NF1 PDGFRA RASA1 RASA2
2
Cytokine Signaling in Immune system 66
Show member pathways
 12.91 IL12RB1 KIT NCAM1 NF1 PDGFRA RASA1
3
MAPK signaling pathway 37 1
12.39 KIT NF1 PDGFRA RASA1 RASA2
4
Ras signaling pathway 37
Show member pathways
 12.2 KIT NF1 PDGFRA RASA1 RASA2
5
Tyrosine Kinases / Adaptors 4
11.86 KIT PDGFRA YWHAH
6
Oncogenic MAPK signaling 66
Show member pathways
 11.8 NF1 RASA1 RASA2
7
Signaling by PTK6 66
Show member pathways
 11.77 NF1 RASA1 RASA2
8
Innate Lymphoid Cell Differentiation Pathways 65
11.48 IL12RB1 KIT NCAM1
9
G-protein signaling TC21 regulation pathway 22
Show member pathways
 11.37 NF1 RASA1 RASA2
10
Semaphorin Signaling 64
11.2 NF1 RASA1 RASA2
11
Cardiac Progenitor Differentiation 1
10.86 KIT NCAM1 PDGFRA
12
Syndecan-2-mediated signaling events 1
10.44 CASK NF1 RASA1 SDC2
Sources

GO Terms for Neurofibromatosis, Type I

About this section

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 IL12RB1 KIT NCAM1 PDGFRA

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 9.43 NF1 RASA1 RASA2
2 positive regulation of JAK-STAT cascade GO:0046427 9.4 CRLF3 KIT
3 adrenal gland development GO:0030325 9.37 NF1 PDGFRA
4 negative regulation of Ras protein signal transduction GO:0046580 9.33 NF1 RASA1 RASA2
5 positive regulation of phospholipase C activity GO:0010863 9.32 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

Sources for Neurofibromatosis, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....