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MCID: NRF024
MIFTS: 66

Neurofibromatosis, Type I

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases, Rare diseases, Ear diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neurofibromatosis, Type I

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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
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological 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 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 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 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...

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Related Diseases for Neurofibromatosis, Type I

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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 111)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 32.6 KIT NF1 PDGFRA
2 neurofibromatosis, type iv, of riccardi 31.1 CDKN2B-AS1 KIT NF1 PDGFRA RASA1 RASA2
3 plexiform neurofibroma 30.7 CDKN2B-AS1 NF1
4 malignant peripheral nerve sheath tumor 30.4 KIT NF1 PDGFRA
5 noonan syndrome 1 30.3 NF1 RASA1 RASA2
6 gastrointestinal stromal tumor 30.2 KIT NF1 PDGFRA
7 mismatch repair cancer syndrome 11.1
8 legius syndrome 11.1
9 neurofibromatosis, familial spinal 11.0
10 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.0
11 osteitis fibrosa 11.0
12 adrenal carcinoma 11.0
13 childhood brain stem glioma 11.0
14 malignant spindle cell melanoma 10.7 KIT NF1
15 plexiform schwannoma 10.7 KIT NF1
16 reticular perineurioma 10.7 KIT PDGFRA
17 sm-ahnmd 10.6 KIT PDGFRA
18 gastric leiomyosarcoma 10.6 KIT PDGFRA
19 type i 10.6
20 desmoid tumor 10.6 KIT PDGFRA
21 sarcomatoid renal cell carcinoma 10.6 KIT PDGFRA
22 conventional fibrosarcoma 10.6 KIT PDGFRA
23 pulmonary vein stenosis 10.6 KIT PDGFRA
24 hypereosinophilic syndrome, idiopathic 10.6 KIT PDGFRA
25 cutaneous ganglioneuroma 10.5 KIT NCAM1
26 undifferentiated pleomorphic sarcoma 10.5 KIT PDGFRA
27 lung adenoid cystic carcinoma 10.5 KIT PDGFRA
28 carney triad 10.4 KIT PDGFRA
29 mediastinal cancer 10.4 KIT NCAM1
30 neurilemmoma 10.4 KIT NF1 PDGFRA
31 angiomyoma 10.4 KIT NCAM1
32 heart sarcoma 10.4 KIT PDGFRA
33 vulvar melanoma 10.4 KIT NF1
34 chronic eosinophilic leukemia 10.4 KIT PDGFRA
35 bone marrow cancer 10.3 KIT NF1 PDGFRA
36 endometrial small cell carcinoma 10.2 KIT NCAM1 PDGFRA
37 small cell carcinoma 10.2 KIT NCAM1 PDGFRA
38 perineurioma 10.2 KIT NCAM1
39 mucosal melanoma 10.1 KIT NF1
40 rete testis neoplasm 10.1 KIT NCAM1
41 uterine inversion 10.0 KIT OXT
42 neurofibrosarcoma 9.9
43 astrocytoma 9.8
44 mesenchymal cell neoplasm 9.8 KIT PDGFRA
45 pheochromocytoma 9.8
46 leukemia 9.8
47 gliosarcoma 9.8
48 rhabdomyosarcoma 9.8
49 cerebritis 9.8
50 pseudo-turner syndrome 9.8

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



Diseases related to Neurofibromatosis, Type I
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Symptoms & Phenotypes for Neurofibromatosis, Type I

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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 RASA1 PDGFRA
5 Decreased viability GR00221-A-4 9.5 RASA1 RASA2 NF1 PDGFRA
6 Decreased viability GR00381-A-1 9.5 RASA1
7 Decreased viability GR00402-S-2 9.5 RASA2 NF1 PDGFRA RASA1

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

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

(show top 50) (show all 185)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Everolimus Approved Phase 4,Phase 2,Phase 1,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 11431660 5005498 5330286
6
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
7
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
8
Sunitinib Approved, Investigational Phase 4,Phase 2 341031-54-7, 557795-19-4 5329102
9
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
10
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
11
Olaparib Approved Phase 4,Phase 2 763113-22-0 23725625
12
Trametinib Approved Phase 4,Phase 2,Phase 1 871700-17-3 11707110
13
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
14
Ceritinib Approved Phase 4 1032900-25-6
15
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
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,Not Applicable
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 220127-57-1 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 9552079 2713
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 3,Phase 1
47 calcium channel blockers Phase 2, Phase 3,Phase 3,Phase 1
48 Calcium, Dietary Phase 2, Phase 3,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 190)
# 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 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
11 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
12 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
13 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin â„¢
14 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
15 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
16 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
17 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
18 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
19 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
20 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
21 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
22 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
23 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
24 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
25 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
26 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
27 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
28 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
29 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
30 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
31 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
32 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
33 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
34 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
35 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)
36 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
37 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
38 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2 Axitinib
39 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
40 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
41 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
42 Trametinib in Patients With Advanced Neurofibromatosis Type 1 (NF1)-Mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib
43 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2 Icotinib
44 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
45 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
46 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
47 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2 AZD6244
48 Synaptic Plasticity and Cognitive Function in RASopathies Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
49 Phase I/II Study of MEK162 for Children With Ras/Raf Pathway Activated Tumors Recruiting NCT02285439 Phase 1, Phase 2 MEK162
50 Study of CPI-0610 in Patients With Malignant Peripheral Nerve Sheath Tumors Recruiting NCT02986919 Phase 2 CPI-0610

Search NIH Clinical Center for Neurofibromatosis, Type I

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Genetic Tests for Neurofibromatosis, Type I

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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, Lung, Testes
Sources

Publications for Neurofibromatosis, Type I

About this section

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 1036)
# Title Authors Year
1
Amusia and its electrophysiological correlates in neurofibromatosis type 1. ( 29898074 )
2018
2
Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods. ( 29097016 )
2018
3
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. ( 29704429 )
2018
4
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
5
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. ( 29449315 )
2018
6
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
7
High-concentration topical capsaicin in the management of refractory neuropathic pain in patients with neurofibromatosis type 1: a case series. ( 29368950 )
2018
8
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
9
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
10
A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I. ( 29356944 )
2018
11
Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. ( 29294511 )
2018
12
Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. ( 29398874 )
2018
13
Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1. ( 29977746 )
2018
14
Simultaneous supratentorial and infratentorial pilocytic astrocytoma in an adult patient with concurrent neurofibromatosis type 1 and HIV infection. ( 29908379 )
2018
15
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
16
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. ( 29893754 )
2018
17
Neurofibromatosis type 1 and optic pathway glioma: Molecular interplay and therapeutic insights. ( 29049847 )
2018
18
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
2018
19
Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas. ( 29600694 )
2018
20
Intraorbital ancient pilocytic astrocytoma of the optic nerve in neurofibromatosis type 1 patient presenting with sudden ocular pain. ( 29511546 )
2018
21
Communicating hydrocephalus and coexisting nonenhancing tumor: An ominous sign for patients with neurofibromatosis type 1? ( 29682141 )
2018
22
Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case. ( 28931105 )
2017
23
Becker's nevus in neurofibromatosis type 1: a single center experience in Italy. ( 28906096 )
2017
24
Rectal carcinoma and multiple gastrointestinal stromal tumors (GIST) of the small intestine in a patient with neurofibromatosis type 1: a case report. ( 28835241 )
2017
25
Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic. ( 28332154 )
2017
26
Neurofibromatosis type 1 and lichen sclerosus: an uncommon association. ( 27978612 )
2017
27
Medium throughput biochemical compound screening identifies novel agents for pharmacotherapy of neurofibromatosis type I. ( 28065690 )
2017
28
Numerical activities of daily living in adults with neurofibromatosis type 1. ( 28853219 )
2017
29
Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 28658406 )
2017
30
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
31
Soft Tissue Perineurioma in a Child With Neurofibromatosis Type 1: A Case Report and Review of the Literature. ( 28812461 )
2017
32
Neurofibromatosis type 1 and right mandibular hypoplasia: unusual diagnosis of occlusion of the left common carotid artery. ( 28866440 )
2017
33
Anemic nevus is a new diagnostic criterion for neurofibromatosis type 1. ( 28906098 )
2017
34
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience. ( 28422438 )
2017
35
Giant phaeochromocytoma presenting with an acute stroke: reappraising phaeochromocytoma surveillance for the neurofibromatosis type 1 phakomatosis. ( 29102976 )
2017
36
Development of the pediatric quality of life inventory neurofibromatosis type 1 module items for children, adolescents and young adults: qualitative methods. ( 28078640 )
2017
37
Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1. ( 29138703 )
2017
38
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer. ( 28891274 )
2017
39
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
40
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study. ( 28189268 )
2017
41
Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1. ( 28125404 )
2017
42
Constipation in adults with neurofibromatosis type 1. ( 28814319 )
2017
43
Mixed mucinous adenocarcinoma and somatostatinoma of the ampulla of Vater associated with neurofibromatosis type 1. ( 28693748 )
2017
44
Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis. ( 28433079 )
2017
45
Metastatic angiosarcoma arising in malignant peripheral nerve sheath tumor in a young patient with neurofibromatosis type 1. ( 28548697 )
2017
46
Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1. ( 29187472 )
2017
47
Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient. ( 29435380 )
2017
48
Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Gliomaa8c. ( 28346917 )
2017
49
Optic Pathway Gliomas Secondary to Neurofibromatosis Type 1. ( 28941532 )
2017
50
Updated nomenclature for human and mouse neurofibromatosis type 1 genes. ( 28804759 )
2017
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
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 3929)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NF1, 5-BP DEL deletion Pathogenic
2 NF1 NF1, ALU INS insertion 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 Pathogenic rs137854553 GRCh37 Chromosome 17, 29557391: 29557391
26 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Pathogenic rs137854553 GRCh38 Chromosome 17, 31230373: 31230373
27 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Pathogenic rs137854554 GRCh37 Chromosome 17, 29585424: 29585424
28 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Pathogenic rs137854554 GRCh38 Chromosome 17, 31258406: 31258406
29 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
30 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh38 Chromosome 17, 31221842: 31221842
31 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
32 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh38 Chromosome 17, 31235729: 31235729
33 NF1 NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Pathogenic rs137854557 GRCh37 Chromosome 17, 29541542: 29541542
34 NF1 NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Pathogenic rs137854557 GRCh38 Chromosome 17, 31214524: 31214524
35 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh37 Chromosome 17, 29541599: 29541599
36 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh38 Chromosome 17, 31214581: 31214581
37 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh37 Chromosome 17, 29528504: 29528504
38 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh38 Chromosome 17, 31201486: 31201486
39 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh37 Chromosome 17, 29576048: 29576048
40 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh38 Chromosome 17, 31249030: 31249030
41 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
42 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh38 Chromosome 17, 31336328: 31336328
43 NF1 NF1, DEL deletion Pathogenic
44 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh37 Chromosome 17, 29562641: 29562641
45 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh38 Chromosome 17, 31235623: 31235623
46 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
47 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
48 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
49 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh38 Chromosome 17, 31259074: 31259076
50 NF1 NF1, 1-BP DEL, 3775T deletion Pathogenic
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 11)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.16 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 1 37
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
11.84 KIT PDGFRA YWHAH
6
Oncogenic MAPK signaling 66
Show member pathways
 11.79 NF1 RASA1 RASA2
7
Signaling by PTK6 66
Show member pathways
 11.75 NF1 RASA1 RASA2
8
Innate Lymphoid Cell Differentiation Pathways 65
11.45 IL12RB1 KIT NCAM1
9
G-protein signaling TC21 regulation pathway 22
Show member pathways
 11.34 NF1 RASA1 RASA2
10
Cardiac Progenitor Differentiation 1
10.86 KIT NCAM1 PDGFRA
11
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 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 9.43 KIT PDGFRA
3 positive regulation of JAK-STAT cascade GO:0046427 9.4 CRLF3 KIT
4 adrenal gland development GO:0030325 9.37 NF1 PDGFRA
5 negative regulation of Ras protein signal transduction GO:0046580 9.33 NF1 RASA1 RASA2
6 positive regulation of phospholipase C activity GO:0010863 9.26 KIT PDGFRA
7 negative regulation of cell-matrix adhesion GO:0001953 9.13 CASK NF1 RASA1
8 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
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