NF1
MCID: NRF024
MIFTS: 69

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

Aliases & Classifications for Neurofibromatosis, Type I

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:



Summaries for Neurofibromatosis, Type I

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 skin, brain and eye, 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...

Related Diseases for Neurofibromatosis, Type I

Diseases in the Neurofibromatosis, Type Ii family:

Neurofibromatosis, Type I

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

(show top 50) (show all 629)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 32.6 PDGFRA NF1 KIT
2 neurofibromatosis, type iv, of riccardi 32.3 RASA2 RASA1 PDGFRA NF1 KIT CDKN2B-AS1
3 bone marrow cancer 32.1 PDGFRA NF1 KIT
4 plexiform schwannoma 31.9 NF1 KIT
5 malignant spindle cell melanoma 31.9 NF1 KIT
6 vulvar melanoma 31.3 NF1 KIT
7 plexiform neurofibroma 30.5 NF1 CDKN2B-AS1
8 malignant peripheral nerve sheath tumor 30.3 PDGFRA NF1 KIT
9 perineurioma 30.2 NCAM1 KIT
10 carney triad 30.0 PDGFRA KIT
11 neurilemmoma 29.9 PDGFRA NF1 KIT
12 gastrointestinal stromal tumor 29.9 PDGFRA NF1 NCAM1 KIT
13 undifferentiated pleomorphic sarcoma 29.7 PDGFRA KIT
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 lung sarcoma 11.2
39 neurilemmomatosis 11.2
40 malignant triton tumor 11.2
41 urachal adenocarcinoma 11.2
42 sporadic pheochromocytoma 11.2
43 neurofibromatosis, familial spinal 11.1
44 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.1
45 osteitis fibrosa 11.1
46 adrenal carcinoma 11.1
47 childhood brain stem glioma 11.1
48 hyaline fibromatosis syndrome 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

Symptoms & Phenotypes for Neurofibromatosis, Type I

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 plexiform neurofibroma 33 very rare (1%) HP:0009732
11 spinal neurofibromas 33 very rare (1%) HP:0009735
12 renal artery stenosis 33 very rare (1%) HP:0001920
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 parathyroid adenoma 33 HP:0002897
26 astrocytoma 33 HP:0009592
27 meningioma 33 HP:0002858
28 rhabdomyosarcoma 33 HP:0002859
29 overgrowth 33 HP:0001548
30 hypsarrhythmia 33 HP:0002521
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

Drugs & Therapeutics for Neurofibromatosis, Type I

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
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
4
Palbociclib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
5
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 46835353 6436030 5284616
6
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
7
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177 70789204
8
Sunitinib Approved, Investigational Phase 4,Phase 2 557795-19-4, 341031-54-7 5329102
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 68602 5311068
12
Olaparib Approved Phase 4,Phase 3,Phase 2 763113-22-0 23725625
13
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
14
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
15
Trametinib Approved Phase 4,Phase 3,Phase 2,Phase 1 871700-17-3 11707110
16
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
17
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
18
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
19
Ceritinib Approved Phase 4,Phase 3 1032900-25-6
20
Ramucirumab Approved, Investigational Phase 4 947687-13-0
21
Lapatinib Approved March 2007, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 388082-78-8, 231277-92-2 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 Agents Phase 4
28 Neurotransmitter Uptake Inhibitors Phase 4
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 1
30 Dopamine Uptake Inhibitors Phase 4
31 Central Nervous System Stimulants Phase 4,Not Applicable
32 Adrenergic Agents Phase 4,Phase 3,Phase 1
33 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
34 Protein Kinase Inhibitors 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 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
38 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Early Phase 1
39 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 220127-57-1 123596
40 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
41 Hypnotics and Sedatives Phase 4
42 Anesthetics, General Phase 4
43 Adrenergic alpha-Agonists Phase 4
44 Adrenergic alpha-2 Receptor Agonists Phase 4
45 Anesthetics Phase 4
46 Anesthetics, Intravenous Phase 4
47 Adrenergic Agonists Phase 4
48
Glycopyrrolate Phase 4 596-51-0 3494
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 207)
# 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 ™
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 Sirolimos 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 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
41 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
42 Treatment of NF1-related Plexiform Neurofibroma With Trametinib Recruiting NCT03741101 Phase 2 Trametinib
43 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
44 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
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 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
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

Genetic Tests for Neurofibromatosis, Type I

Genetic tests related to Neurofibromatosis, Type I:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 1 30 NF1

Anatomical Context for Neurofibromatosis, Type I

MalaCards organs/tissues related to Neurofibromatosis, Type I:

42
Skin, Brain, Eye, Bone, Spinal Cord, Breast, Lung

Publications for Neurofibromatosis, Type I

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 2092)
# 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
Metachronous bilateral triple-negative breast cancer associated with neurofibromatosis type 1: A case report. ( 30854057 )
2019
5
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
6
Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. ( 30881378 )
2019
7
Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1. ( 30711963 )
2019
8
Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma. ( 30741560 )
2019
9
Prevalence of Strabismus Among Children With Neurofibromatosis Type 1 Disease With and Without Optic Pathway Glioma. ( 30371910 )
2019
10
Prognostic significance of mast cell and microvascular densities in malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 30735009 )
2019
11
Melanoma in neurofibromatosis type 1: an Italian single center experience. ( 30616334 )
2019
12
Topical sirolimus as an effective treatment for a deep neurofibroma in a patient with neurofibromatosis type I. ( 30828862 )
2019
13
Biliary Rhabdomyosarcoma in an Infant Male With Neurofibromatosis Type 1. ( 29683957 )
2019
14
Combined Halo Gravity Traction and Dual Growing Rod Technique for the Treatment of Early-Onset Dystrophic Scoliosis in Neurofibromatosis Type 1. ( 30797914 )
2019
15
Dynamic thiol/disulphide homeostasis in children with neurofibromatosis type 1 and tuberous sclerosis. ( 30820867 )
2019
16
High-Grade Gliomas in Children with Neurofibromatosis Type 1: Literature Review and Illustrative Cases. ( 30573459 )
2019
17
Neurofibromatosis type 1 (Nf1)-mutant mice exhibit increased sleep fragmentation. ( 30609083 )
2019
18
Bilateral and symmetric C1-C2 dumbbell ganglioneuromas associated with neurofibromatosis type 1: A case report. ( 30637260 )
2019
19
Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1. ( 30649606 )
2019
20
A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1. ( 30656042 )
2019
21
Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging. ( 30659594 )
2019
22
Corrigendum to Management of Cervical Instability as a Complication of Neurofibromatosis Type 1 in Children: A Historical Perspective With a 40-Year Experience [Spine Deformity 6 (2018) 719-729]. ( 30660236 )
2019
23
Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1. ( 30684113 )
2019
24
Retinal microvascular abnormalities in neurofibromatosis type 1. ( 30705042 )
2019
25
Reduced higher dimensional temporal dynamism in neurofibromatosis type 1. ( 30710873 )
2019
26
Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas. ( 30713041 )
2019
27
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas. ( 30722027 )
2019
28
Pediatric malignancies in neurofibromatosis type 1: a population-based cohort study. ( 30724342 )
2019
29
Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1. ( 30737893 )
2019
30
Acquired and progressive myelinated retinal nerve fibers in neurofibromatosis type 1. ( 30772473 )
2019
31
Utility of MRI neurography in neurofibromatosis type I: Case example and review of MRI neurography literature. ( 30783543 )
2019
32
A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1. ( 30789191 )
2019
33
A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1. ( 30800298 )
2019
34
Caring for children with neurofibromatosis type 1. ( 30839383 )
2019
35
Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas. ( 30840859 )
2019
36
Spontaneous massive haemothorax in the peri-partum period of an undiagnosed neurofibromatosis type 1 patient - A surgical perspective. ( 30846675 )
2019
37
Neurofibromatosis Type 1: Review of Cutaneous and Subcutaneous Tumor Treatment on Quality of Life. ( 30859021 )
2019
38
Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement. ( 30885426 )
2019
39
Cinematic Rendering of Neurofibromatosis Type I Gastrointestinal Stromal Tumors. ( 30888936 )
2019
40
Caring for children with neurofibromatosis type 1. ( 30893202 )
2019
41
Face reading difficulties in children with neurofibromatosis type 1: towards more personalized treatments. ( 29926480 )
2019
42
Spontaneous Accessory Renal Artery Aneurysm Rupture in a Patient With Neurofibromatosis Type 1: A Case Report. ( 30223725 )
2019
43
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. ( 30276464 )
2019
44
Correction to: Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. ( 30306267 )
2019
45
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy. ( 30415209 )
2019
46
Attention to faces in social context in children with neurofibromatosis type 1. ( 29873078 )
2019
47
Amusia and its electrophysiological correlates in neurofibromatosis type 1. ( 29898074 )
2018
48
Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods. ( 29097016 )
2018
49
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. ( 29704429 )
2018
50
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

Variations for Neurofibromatosis, Type I

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 5301)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.7734dupT (p.Glu2579Terfs) duplication Pathogenic rs863224837 GRCh38 Chromosome 17, 31357018: 31357018
2 NF1 NM_001042492.2(NF1): c.36C> T (p.Ala12=) single nucleotide variant Likely benign rs786203866 GRCh37 Chromosome 17, 29422363: 29422363
3 NF1 NM_001042492.2(NF1): c.36C> T (p.Ala12=) single nucleotide variant Likely benign rs786203866 GRCh38 Chromosome 17, 31095345: 31095345
4 NF1 NM_001042492.2(NF1): c.55G> T (p.Glu19Ter) single nucleotide variant Pathogenic rs786203307 GRCh37 Chromosome 17, 29422382: 29422382
5 NF1 NM_001042492.2(NF1): c.55G> T (p.Glu19Ter) single nucleotide variant Pathogenic rs786203307 GRCh38 Chromosome 17, 31095364: 31095364
6 NF1 NM_001042492.2(NF1): c.99A> G (p.Lys33=) single nucleotide variant Uncertain significance rs786203280 GRCh37 Chromosome 17, 29483039: 29483039
7 NF1 NM_001042492.2(NF1): c.99A> G (p.Lys33=) single nucleotide variant Uncertain significance rs786203280 GRCh38 Chromosome 17, 31156021: 31156021
8 NF1 NM_001042492.2(NF1): c.100G> A (p.Val34Ile) single nucleotide variant Uncertain significance rs772995929 GRCh37 Chromosome 17, 29483040: 29483040
9 NF1 NM_001042492.2(NF1): c.100G> A (p.Val34Ile) single nucleotide variant Uncertain significance rs772995929 GRCh38 Chromosome 17, 31156022: 31156022
10 NF1 NM_001042492.2(NF1): c.122A> C (p.Glu41Ala) single nucleotide variant Uncertain significance rs786203038 GRCh37 Chromosome 17, 29483062: 29483062
11 NF1 NM_001042492.2(NF1): c.122A> C (p.Glu41Ala) single nucleotide variant Uncertain significance rs786203038 GRCh38 Chromosome 17, 31156044: 31156044
12 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
13 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
14 NF1 NM_001042492.2(NF1): c.239A> G (p.Tyr80Cys) single nucleotide variant Uncertain significance rs4795581 GRCh37 Chromosome 17, 29486062: 29486062
15 NF1 NM_001042492.2(NF1): c.239A> G (p.Tyr80Cys) single nucleotide variant Uncertain significance rs4795581 GRCh38 Chromosome 17, 31159044: 31159044
16 NF1 NM_001042492.2(NF1): c.321G> A (p.Thr107=) single nucleotide variant Benign/Likely benign rs786201731 GRCh37 Chromosome 17, 29490236: 29490236
17 NF1 NM_001042492.2(NF1): c.321G> A (p.Thr107=) single nucleotide variant Benign/Likely benign rs786201731 GRCh38 Chromosome 17, 31163218: 31163218
18 NF1 NM_001042492.2(NF1): c.354C> T (p.Cys118=) single nucleotide variant Conflicting interpretations of pathogenicity rs768777585 GRCh37 Chromosome 17, 29490269: 29490269
19 NF1 NM_001042492.2(NF1): c.354C> T (p.Cys118=) single nucleotide variant Conflicting interpretations of pathogenicity rs768777585 GRCh38 Chromosome 17, 31163251: 31163251
20 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
21 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
22 NF1 NM_001042492.2(NF1): c.393A> C (p.Ala131=) single nucleotide variant Likely benign rs761086521 GRCh37 Chromosome 17, 29490308: 29490308
23 NF1 NM_001042492.2(NF1): c.393A> C (p.Ala131=) single nucleotide variant Likely benign rs761086521 GRCh38 Chromosome 17, 31163290: 31163290
24 NF1 NM_001042492.2(NF1): c.493A> G (p.Thr165Ala) single nucleotide variant Uncertain significance rs786203186 GRCh37 Chromosome 17, 29496922: 29496922
25 NF1 NM_001042492.2(NF1): c.493A> G (p.Thr165Ala) single nucleotide variant Uncertain significance rs786203186 GRCh38 Chromosome 17, 31169904: 31169904
26 NF1 NM_001042492.2(NF1): c.499_502delTGTT (p.Cys167Glnfs) deletion Pathogenic rs786201874 GRCh37 Chromosome 17, 29496928: 29496931
27 NF1 NM_001042492.2(NF1): c.499_502delTGTT (p.Cys167Glnfs) deletion Pathogenic rs786201874 GRCh38 Chromosome 17, 31169910: 31169913
28 NF1 NM_001042492.2(NF1): c.512A> G (p.Asn171Ser) single nucleotide variant Uncertain significance rs767500770 GRCh37 Chromosome 17, 29496941: 29496941
29 NF1 NM_001042492.2(NF1): c.512A> G (p.Asn171Ser) single nucleotide variant Uncertain significance rs767500770 GRCh38 Chromosome 17, 31169923: 31169923
30 NF1 NM_001042492.2(NF1): c.582G> A (p.Leu194=) single nucleotide variant Likely benign rs786201846 GRCh37 Chromosome 17, 29497011: 29497011
31 NF1 NM_001042492.2(NF1): c.582G> A (p.Leu194=) single nucleotide variant Likely benign rs786201846 GRCh38 Chromosome 17, 31169993: 31169993
32 NF1 NM_001042492.2(NF1): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs786203448 GRCh37 Chromosome 17, 29508478: 29508478
33 NF1 NM_001042492.2(NF1): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs786203448 GRCh38 Chromosome 17, 31181460: 31181460
34 NF1 NM_001042492.2(NF1): c.696A> G (p.Thr232=) single nucleotide variant Likely benign rs368691517 GRCh38 Chromosome 17, 31181751: 31181751
35 NF1 NM_001042492.2(NF1): c.696A> G (p.Thr232=) single nucleotide variant Likely benign rs368691517 GRCh37 Chromosome 17, 29508769: 29508769
36 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
37 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
38 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
39 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
40 NF1 NM_001042492.2(NF1): c.861C> T (p.Asp287=) single nucleotide variant Likely benign rs749949219 GRCh37 Chromosome 17, 29509656: 29509656
41 NF1 NM_001042492.2(NF1): c.861C> T (p.Asp287=) single nucleotide variant Likely benign rs749949219 GRCh38 Chromosome 17, 31182638: 31182638
42 NF1 NM_001042492.2(NF1): c.864G> C (p.Val288=) single nucleotide variant Likely benign rs201181517 GRCh37 Chromosome 17, 29509659: 29509659
43 NF1 NM_001042492.2(NF1): c.864G> C (p.Val288=) single nucleotide variant Likely benign rs201181517 GRCh38 Chromosome 17, 31182641: 31182641
44 NF1 NM_001042492.2(NF1): c.876C> T (p.Asn292=) single nucleotide variant Likely benign rs786202811 GRCh37 Chromosome 17, 29509671: 29509671
45 NF1 NM_001042492.2(NF1): c.876C> T (p.Asn292=) single nucleotide variant Likely benign rs786202811 GRCh38 Chromosome 17, 31182653: 31182653
46 NF1 NM_001042492.2(NF1): c.898C> T (p.Leu300=) single nucleotide variant Likely benign rs786201926 GRCh37 Chromosome 17, 29527449: 29527449
47 NF1 NM_001042492.2(NF1): c.898C> T (p.Leu300=) single nucleotide variant Likely benign rs786201926 GRCh38 Chromosome 17, 31200431: 31200431
48 NF1 NM_001042492.2(NF1): c.905G> A (p.Ser302Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs786202746 GRCh37 Chromosome 17, 29527456: 29527456
49 NF1 NM_001042492.2(NF1): c.905G> A (p.Ser302Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs786202746 GRCh38 Chromosome 17, 31200438: 31200438
50 NF1 NM_001042492.2(NF1): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs786203950 GRCh37 Chromosome 17, 29527461: 29527461

Expression for Neurofibromatosis, Type I

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

Pathways for Neurofibromatosis, Type I

GO Terms for Neurofibromatosis, Type I

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

# Name GO ID Score Top Affiliating Genes
1 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 for Neurofibromatosis, Type I

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
Content
Loading form....