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 58
Neurofibromatosis, Type 1 58 30 13 6 41
Von Recklinghausen Disease 58 77 76
Neurofibromatosis 1 76 74
Nf1 58 76
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 60
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 60
Neurofibromatosis, Peripheral Type 58
Neurofibromatosis Peripheral Type 76
Von Recklinghausen's Disease 55
Von Recklinghausen Syndrome 76

Characteristics:

OMIM:

58
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:

33
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: 35
Orphanet: 60  
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 : 55 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 neurofibroma and neurofibromatosis, type iv, of riccardi, 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 Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are macrocephaly and pectus excavatum

OMIM : 58 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 : 76 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 : 77 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 665)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 32.7 KIT NF1 PDGFRA
2 neurofibromatosis, type iv, of riccardi 32.5 CDKN2B-AS1 KIT NF1 PDGFRA RASA1 RASA2
3 bone marrow cancer 32.2 KIT NF1 PDGFRA
4 plexiform schwannoma 31.9 KIT NF1
5 malignant spindle cell melanoma 31.9 KIT NF1
6 vulvar melanoma 31.4 KIT NF1
7 plexiform neurofibroma 30.5 CDKN2B-AS1 NF1
8 malignant peripheral nerve sheath tumor 30.3 KIT NF1 PDGFRA
9 perineurioma 30.1 KIT NCAM1
10 carney triad 30.0 KIT PDGFRA
11 undifferentiated pleomorphic sarcoma 30.0 KIT PDGFRA
12 neurilemmoma 30.0 KIT NF1 PDGFRA
13 gastrointestinal stromal tumor 29.9 KIT NCAM1 NF1 PDGFRA
14 chromosome 17q11.2 deletion syndrome 12.1
15 watson syndrome 11.9
16 juvenile myelomonocytic leukemia 11.6
17 autosomal dominant café au lait spots 11.6
18 neurofibromatosis, type ii 11.6
19 colorectal cancer 11.5
20 myelodysplastic syndrome 11.4
21 insulinoma 11.4
22 optic nerve glioma 11.4
23 chronic myelomonocytic leukemia 11.4
24 paraganglioma 11.4
25 learning disability 11.4
26 von hippel-lindau syndrome 11.3
27 mucosal melanoma 11.3
28 ectropion 11.3
29 elephantiasis 11.3
30 mismatch repair cancer syndrome 11.3
31 legius syndrome 11.3
32 neurilemmomatosis 11.3
33 cafe-au-lait spots, multiple 11.3
34 moyamoya disease 1 11.2
35 pulmonic stenosis 11.2
36 osteofibrous dysplasia 11.2
37 peripheral nervous system neoplasm 11.2
38 lung sarcoma 11.2
39 malignant triton tumor 11.2
40 urachal adenocarcinoma 11.2
41 sporadic pheochromocytoma 11.2
42 neurofibromatosis, familial spinal 11.2
43 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.2
44 osteitis fibrosa 11.2
45 adrenal carcinoma 11.2
46 childhood brain stem glioma 11.2
47 hyaline fibromatosis syndrome 11.1
48 neuroblastoma 1 11.1
49 spinal cancer 11.1
50 hereditary paraganglioma-pheochromocytoma syndromes 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

Human phenotypes related to Neurofibromatosis, Type I:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 very rare (1%) HP:0000256
2 pectus excavatum 33 very rare (1%) HP:0000767
3 seizures 33 very rare (1%) HP:0001250
4 scoliosis 33 very rare (1%) HP:0002650
5 short stature 33 very rare (1%) HP:0004322
6 specific learning disability 33 very rare (1%) HP:0001328
7 pheochromocytoma 33 very rare (1%) HP:0002666
8 multiple cafe-au-lait spots 33 very rare (1%) HP:0007565
9 spina bifida 33 very rare (1%) HP:0002414
10 renal artery stenosis 33 very rare (1%) HP:0001920
11 plexiform neurofibroma 33 very rare (1%) HP:0009732
12 spinal neurofibromas 33 very rare (1%) HP:0009735
13 axillary freckling 33 very rare (1%) HP:0000997
14 inguinal freckling 33 very rare (1%) HP:0030052
15 lisch nodules 33 very rare (1%) HP:0009737
16 optic nerve glioma 33 very rare (1%) HP:0009734
17 tibial pseudoarthrosis 33 very rare (1%) HP:0009736
18 hypertelorism 33 HP:0000316
19 genu valgum 33 HP:0002857
20 hydrocephalus 33 HP:0000238
21 hypertension 33 HP:0000822
22 aqueductal stenosis 33 HP:0002410
23 intellectual disability, mild 33 HP:0001256
24 glaucoma 33 HP:0000501
25 hypsarrhythmia 33 HP:0002521
26 parathyroid adenoma 33 HP:0002897
27 astrocytoma 33 HP:0009592
28 meningioma 33 HP:0002858
29 rhabdomyosarcoma 33 HP:0002859
30 overgrowth 33 HP:0001548
31 neurofibrosarcoma 33 HP:0100697

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Neurofibromatosis, Type I:


neuralgia

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

27
# 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:

47
# 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 219)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Sunitinib Approved, Investigational Phase 4,Phase 2 557795-19-4, 341031-54-7 5329102
4
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 70789204 6442177
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
6
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
7
Palbociclib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 571190-30-2 5005498 11431660 5330286
8
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 46835353 5284616 6436030
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
12
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
13
Trametinib Approved Phase 4,Phase 3,Phase 2,Phase 1 871700-17-3 11707110
14
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
15
Olaparib Approved Phase 4,Phase 3,Phase 2 763113-22-0 23725625
16
Ramucirumab Approved, Investigational Phase 4 947687-13-0
17
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
18
Ceritinib Approved Phase 4,Phase 3 1032900-25-6
19
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
20
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
21
Lapatinib Approved March 2007, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
22 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
23 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
24 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Immunologic Factors Phase 4,Phase 2,Phase 1,Early Phase 1
27 Dopamine Uptake Inhibitors Phase 4
28 Neurotransmitter Uptake Inhibitors Phase 4
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
30 Central Nervous System Stimulants Phase 4,Not Applicable
31 Dopamine Agents Phase 4
32 Adrenergic Agents Phase 4,Phase 3,Phase 1
33 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
34 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35
Erlotinib Hydrochloride Phase 4,Phase 2,Phase 1 183319-69-9 176871
36 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
38 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
39 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Early Phase 1
40 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 220127-57-1 123596
41
Glycopyrrolate Phase 4 596-51-0 3494
42 Anesthetics, General Phase 4
43 Anesthetics Phase 4
44 Adrenergic alpha-Agonists Phase 4
45 Adrenergic alpha-2 Receptor Agonists Phase 4
46 Hypnotics and Sedatives Phase 4
47 Adrenergic Agonists Phase 4
48 Anesthetics, Intravenous Phase 4
49 Poly(ADP-ribose) Polymerase Inhibitors Phase 4,Phase 3,Phase 2
50
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978

Interventional clinical trials:

(show top 50) (show all 208)
# 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 Clinical Trial to Evaluate the Efficacy and Safety of 'GLA5PR GLARS-NF1 Tab.' in Peripheral Neuropathic Pain Completed NCT03221907 Phase 3 GLA5PR GLARS-NF1;GLA5PR GLARS-NF1 placebo;Pregabalin;Pregabalin placebo
6 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
7 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;Placebo
8 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;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 Selumetinib Versus Carboplatin/Vincristine in Treating Patients With Newly Diagnosed or Previously Untreated NF1-Associated Low-Grade Glioma Not yet recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
11 MOLECULAR PROFILING OF ADVANCED SOFT-TISSUE SARCOMAS Not yet recruiting NCT03784014 Phase 3 Nilotinib;Ceritinib;Capmatinib;Lapatinib;Trametinib;Palbociclib;Glasdegib;TAS-120
12 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
13 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
14 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
15 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
16 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin â„¢
17 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
18 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
19 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
20 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Completed NCT02096471 Phase 2 PD-0325901
21 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
22 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
23 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
24 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
25 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
26 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
27 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
28 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
29 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
30 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
31 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
32 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
33 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
34 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
35 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
36 SARC023: Ganetespib and Sirolimus in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
37 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
38 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
39 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
40 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 Completed NCT02315625 Phase 2 Sunitinib;Everolimus
41 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
42 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
43 Treatment of NF1-related Plexiform Neurofibroma With Trametinib Recruiting NCT03741101 Phase 2 Trametinib
44 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
45 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
46 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
47 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
48 MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT02407405 Phase 2 Selumetinib
49 Trametinib in Patients With Advanced Neurofibromatosis Type 1 (NF1)-Mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib
50 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib

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 30 NF1
Sources

Anatomical Context for Neurofibromatosis, Type I

About this section

MalaCards organs/tissues related to Neurofibromatosis, Type I:

42
Brain, Skin, Bone, Eye, Spinal Cord, Thyroid, T Cells
Sources

Publications for Neurofibromatosis, Type I

About this section

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 2158)
# Title Authors Year
1
Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association? ( 30726411 )
2019
2
Left colic artery aneurysm rupture after stent placement for abdominal aortic aneurysm associated with neurofibromatosis type 1. ( 30673931 )
2019
3
Dramatic response to trametinib in a male child with neurofibromatosis type 1 and refractory astrocytoma. ( 30251337 )
2019
4
Neurofibromatosis Type 1 - Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review. ( 31011321 )
2019
5
Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature. ( 30962859 )
2019
6
Metachronous bilateral triple-negative breast cancer associated with neurofibromatosis type 1: A case report. ( 30854057 )
2019
7
C1q Nephropathy in a Patient of Neurofibromatosis Type 1: A Rare Case Report. ( 30983754 )
2019
8
Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature. ( 30635305 )
2019
9
Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1. ( 30963792 )
2019
10
Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1. ( 30711963 )
2019
11
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. ( 29704429 )
2019
12
Parathyroid Carcinoma Causing Mild Hyperparathyroidism in Neurofibromatosis Type 1: A Case Report and Systematic Review. ( 30198445 )
2019
13
Left ventricular noncompaction and orthodromic atrioventricular tachycardia observed in a patient with neurofibromatosis type 1. ( 30949358 )
2019
14
Prognostic significance of mast cell and microvascular densities in malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 30735009 )
2019
15
Melanoma in neurofibromatosis type 1: an Italian single center experience. ( 30616334 )
2019
16
Primary progressive multiple sclerosis and neurofibromatosis type 1. ( 31048186 )
2019
17
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2019
18
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 )
2019
19
Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1. ( 30444769 )
2019
20
Topical sirolimus as an effective treatment for a deep neurofibroma in a patient with neurofibromatosis type I. ( 30828862 )
2019
21
Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1. ( 31038470 )
2019
22
Biliary Rhabdomyosarcoma in an Infant Male With Neurofibromatosis Type 1. ( 29683957 )
2019
23
Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement. ( 30885426 )
2019
24
Cinematic Rendering of Neurofibromatosis Type I Gastrointestinal Stromal Tumors. ( 30888936 )
2019
25
Caring for children with neurofibromatosis type 1. ( 30893202 )
2019
26
Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. ( 30919579 )
2019
27
Neurofibromatosis type I with malignant peripheral nerve sheath tumors in the upper arm: A case report. ( 30921223 )
2019
28
Effectiveness of oral propranolol in a patient with neurofibromatosis type 1 and infantile hemangiomas. ( 30924624 )
2019
29
Non-odontogenic Intraosseous Radiolucent Lesions of the Mandibular Body Are Rare Findings on Panoramic Views of Patients With Neurofibromatosis Type 1. ( 30952741 )
2019
30
Pharmacoresistant seizures in neurofibromatosis type 1 related to hippocampal sclerosis: Three case presentation and review. ( 30962059 )
2019
31
An update on the central nervous system manifestations of neurofibromatosis type 1. ( 30963251 )
2019
32
Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1. ( 30997327 )
2019
33
Yasunari Nodules: A New Sensitive and Specific Marker of Neurofibromatosis Type 1, Readily Detectable by Ophthalmologists. ( 30999341 )
2019
34
Dural Ectasia of the Optic Nerve: A Rare Presentation in Neurofibromatosis Type I. ( 31001034 )
2019
35
Early and Mid-term Outcomes of Surgical Correction for Severe Dystrophic Cervical Kyphosis in Patients with Neurofibromatosis Type 1: a Retrospective Multicenter Study. ( 31004860 )
2019
36
Towards a neurobiological understanding of pain in neurofibromatosis type 1: mechanisms and implications for treatment. ( 31009417 )
2019
37
Health Supervision for Children With Neurofibromatosis Type 1. ( 31010905 )
2019
38
Neurofibromatosis type 1 of the child increases birth weight. ( 31016862 )
2019
39
A case report of revision occipital-cervical fusion after atlanto-axial instrumentation failure for neurofibromatosis type I. ( 31023294 )
2019
40
Renal Autotransplant and Celiac Artery Bypass for Aneurysmal Degeneration Related to Neurofibromatosis Type 1. ( 31043138 )
2019
41
A patient with neurofibromatosis type 1 presenting with bilateral frontal lobe infarctions following anterior communicating artery aneurysm rupture. ( 31057798 )
2019
42
Neurofibromatosis type 1-related pseudarthrosis: beyond the pseudarthrosis site. ( 31066482 )
2019
43
Patients with High-Grade Gliomas and Café-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis? ( 31072978 )
2019
44
Speech difficulties and patient health communication mediating effects on worry and health-related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1. ( 31081992 )
2019
45
Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach. ( 31101459 )
2019
46
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. ( 30276464 )
2019
47
Dynamic thiol/disulphide homeostasis in children with neurofibromatosis type 1 and tuberous sclerosis. ( 30820867 )
2019
48
Surgical Treatment of Dystrophic Scoliosis in Neurofibromatosis Type 1: Outcomes and Complications. ( 30273186 )
2019
49
Combined Halo Gravity Traction and Dual Growing Rod Technique for the Treatment of Early-Onset Dystrophic Scoliosis in Neurofibromatosis Type 1. ( 30797914 )
2019
50
Painful Vater-Pacini neuroma of the digit in neurofibromatosis type 1. ( 30984511 )
2019
Sources

Variations for Neurofibromatosis, Type I

About this section

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

76 (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 5313)
# 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 67
Show member pathways
 13.19 KIT NCAM1 NF1 PDGFRA RASA1 RASA2
2
Cytokine Signaling in Immune system 67
Show member pathways
 12.91 IL12RB1 KIT NCAM1 NF1 PDGFRA RASA1
3
MAPK signaling pathway 1 38
12.39 KIT NF1 PDGFRA RASA1 RASA2
4
Ras signaling pathway 38
Show member pathways
 12.2 KIT NF1 PDGFRA RASA1 RASA2
5
Tyrosine Kinases / Adaptors 4
11.86 KIT PDGFRA YWHAH
6
Oncogenic MAPK signaling 67
Show member pathways
 11.8 NF1 RASA1 RASA2
7
Signaling by PTK6 67
Show member pathways
 11.77 NF1 RASA1 RASA2
8
Innate Lymphoid Cell Differentiation Pathways 66
11.48 IL12RB1 KIT NCAM1
9
G-protein signaling TC21 regulation pathway 23
Show member pathways
 11.37 NF1 RASA1 RASA2
10
Semaphorin Signaling 65
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
Sources

Sources for Neurofibromatosis, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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....