NF1
MCID: NRF024
MIFTS: 72

Neurofibromatosis, Type I (NF1)

Categories: Bone 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 56
Von Recklinghausen Disease 56 12 74 24 52 25 58 73
Nf1 56 12 24 52 25 58 73
Neurofibromatosis, Type 1 56 29 13 6 39
Neurofibromatosis Type 1 52 25 58 36 54
Neurofibromatosis 1 12 24 25 73 71
Peripheral Neurofibromatosis 12 25
Neurofibromatosis Type I 12 74
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion 58
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion 58
Von Recklinghausen's Neurofibromatosis 24
Neurofibromatosis, Peripheral Type 56
Familial Spinal Neurofibromatosis 12
Neurofibromatosis Peripheral Type 73
Recklinghausen Disease, Nerve 25
Von Recklinghausen's Disease 53
Von Recklinghausen Syndrome 73
Recklinghausen's Disease 52
Type 1 Neurofibromatosis 52
Fsnf 12

Characteristics:

Orphanet epidemiological data:

58
neurofibromatosis type 1
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (United Kingdom),1-5/10000 (Finland),1-5/10000 (New Zealand),1-5/10000 (Europe),1-5/10000 (United States),1-5/10000 (Worldwide),1-9/100000 (Canada),1-5/10000 (Sweden); Age of onset: Infancy,Neonatal; Age of death: adult,elderly,young Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
50% of cases are de novo
sporadic occurrence is associated with advanced paternal age
prevalence of 1 in 3,000


HPO:

31
neurofibromatosis, type i:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is virtually complete after childhood.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Neurofibromatosis, Type I

Genetics Home Reference : 25 Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood. Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia). During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision. Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention-deficit/hyperactivity disorder (ADHD) occur frequently in affected individuals.

MalaCards based summary : Neurofibromatosis, Type I, also known as von recklinghausen disease, is related to sporadic pheochromocytoma and multiple endocrine neoplasia, type iia, and has symptoms including neuralgia An important gene associated with Neurofibromatosis, Type I is NF1 (Neurofibromin 1), and among its related pathways/superpathways are MAPK signaling pathway and Ras signaling pathway. 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 delayed puberty and intellectual disability, mild

Disease Ontology : 12 A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has material basis in heterozygous mutation in NF1 on 17q11.2.

NIH Rare Diseases : 52 Neurofibromatosis type 1 (NF1) is a genetic condition characterized primarily by changes in skin color and the growth of benign (non-cancerous) tumors along the nerves of the skin, brain, and other parts of the body. The severity and specific features can vary greatly from person to person. NF1 belongs to a group of related conditions called the RASopathies . These conditions have some overlapping signs and symptoms and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. NF1 is caused by changes (mutations ) in the NF1 gene and is inherited in an autosomal dominant manner. In about 50% of cases, it is inherited from an affected parent. Other cases result from a new (de novo ) mutation, occurring for the first time in people with no family history of NF1. Treatment is based on the signs and symptoms present in each person.

OMIM : 56 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)

NINDS : 53 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.

KEGG : 36 Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant disease caused by mutations of NF1 gene on chromosome 17. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3000 births and there is no sex or racial predilection. NF1 is characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.

UniProtKB/Swiss-Prot : 73 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 : 74 Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a... more...

GeneReviews: NBK1109

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 1252)
# Related Disease Score Top Affiliating Genes
1 sporadic pheochromocytoma 32.0 SDHD NF1
2 multiple endocrine neoplasia, type iia 32.0 SDHD NF1
3 neurilemmomatosis 32.0 RASA1 NF1
4 mucosal melanoma 32.0 NF1 KIT
5 proteus syndrome 32.0 RASA1 NF1
6 multiple endocrine neoplasia, type iib 31.9 SDHD NF1
7 lipomatosis, multiple 31.7 NF1 KIT
8 paraganglioma 31.7 SDHD NF1 KIT
9 chronic myelomonocytic leukemia 31.7 PDGFRA NF1 KIT
10 myeloproliferative neoplasm 31.6 PDGFRA NF1 KIT
11 neurofibroma 31.6 RASA2 PDGFRA NF1 KIT
12 optic nerve neoplasm 31.6 RASA2 NF1
13 giant cell glioblastoma 31.6 PDGFRA NF1
14 benign ependymoma 31.6 PDGFRA NF1
15 extra-adrenal pheochromocytoma 31.5 SDHD NF1
16 mixed glioma 31.5 PDGFRA NF1
17 adrenal medulla cancer 31.5 SDHD NF1
18 autonomic nervous system benign neoplasm 31.4 SDHD NF1
19 peripheral nervous system benign neoplasm 31.4 SDHD NF1
20 persistent generalized lymphadenopathy 31.4 SDHD NF1
21 fibrillary astrocytoma 31.4 PDGFRA NF1
22 plexiform schwannoma 31.4 NF1 KIT
23 prostate embryonal rhabdomyosarcoma 31.4 NF1 KIT
24 bladder leiomyoma 31.4 NF1 KIT
25 gliofibroma 31.4 NF1 KIT
26 mesenchymal cell neoplasm 31.4 PDGFRA NF1 KIT
27 bladder benign neoplasm 31.3 NF1 KIT
28 carney complex variant 31.3 SDHD NF1
29 connective tissue benign neoplasm 31.3 NF1 KIT
30 lymph node disease 31.3 SDHD NF1
31 cardiovascular cancer 31.3 NF1 KIT
32 brain stem glioma 31.2 PDGFRA NF1
33 cardiofaciocutaneous syndrome 1 31.1 RASA2 RASA1 NF1
34 leiomyosarcoma 31.1 PDGFRA NF1 KIT
35 leukemia, chronic myeloid 31.0 RASA1 PDGFRA NF1 KIT
36 cardiovascular organ benign neoplasm 31.0 SDHD RASA1 NF1
37 skeletal muscle cancer 31.0 NF1 KIT
38 cerebral arterial disease 31.0 NF1 CDKN2B-AS1
39 ewing sarcoma 31.0 PDGFRA NF1 KIT
40 vulvar melanoma 31.0 RASA2 NF1 KIT
41 malignant spindle cell melanoma 31.0 RASA2 NF1 KIT
42 esophagus leiomyoma 30.9 SDHD PDGFRA NF1
43 small intestine leiomyoma 30.8 PDGFRA NF1 KIT
44 nervous system benign neoplasm 30.8 PDGFRA NF1 KIT
45 muscle cancer 30.8 PDGFRA NF1 KIT
46 melanoma, cutaneous malignant 1 30.4 NF1 KIT CDKN2B-AS1
47 neurofibrosarcoma 30.3 NF1 KIT
48 muscular disease 30.2 PDGFRA NF1 KIT
49 chondroma 30.2 SDHD PDGFRA NF1 KIT
50 undifferentiated pleomorphic sarcoma 29.9 PDGFRA KIT

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:

58 31 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
4 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
5 specific learning disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001328
6 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
7 multiple lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001012
8 multiple cafe-au-lait spots 58 31 very rare (1%) Very frequent (99-80%) HP:0007565
9 astrocytoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0009592
10 meningioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002858
11 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
12 plexiform neurofibroma 58 31 very rare (1%) Very frequent (99-80%) HP:0009732
13 lisch nodules 58 31 very rare (1%) Very frequent (99-80%) HP:0009737
14 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
17 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
18 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
19 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
20 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
21 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
22 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
23 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
24 heterochromia iridis 58 31 frequent (33%) Frequent (79-30%) HP:0001100
25 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
26 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
27 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
28 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
29 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
30 macrocephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000256
31 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
32 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
33 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
34 seizures 58 31 very rare (1%) Occasional (29-5%) HP:0001250
35 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
36 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
37 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
38 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
39 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
40 short stature 58 31 very rare (1%) Occasional (29-5%) HP:0004322
41 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
42 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
43 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
44 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
45 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
46 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
47 abnormality of the upper urinary tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010935
48 abnormal hair quantity 58 31 occasional (7.5%) Occasional (29-5%) HP:0011362
49 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
50 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501

Symptoms via clinical synopsis from OMIM:

56
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:
plexiform neurofibroma
neurofibromas
axillary freckling
inguinal freckling
cafe-au-lait spots

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
rhabdomyosarcoma
parathyroid adenoma
meningioma
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:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.89 PDGFRA
2 Decreased viability GR00221-A-1 9.89 KIT NF1 PDGFRA SDHD
3 Decreased viability GR00221-A-2 9.89 NF1 SDHD
4 Decreased viability GR00221-A-3 9.89 PDGFRA RASA1
5 Decreased viability GR00221-A-4 9.89 NF1 PDGFRA SDHD RASA1 RASA2
6 Decreased viability GR00301-A 9.89 KIT
7 Decreased viability GR00381-A-1 9.89 SDHD RASA1
8 Decreased viability GR00402-S-2 9.89 KIT NF1 PDGFRA SDHD RASA1 RASA2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.8 NF1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.8 NF1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.8 RASA2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.8 PDGFRA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.8 RASA2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.8 PDGFRA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.8 PDGFRA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.8 NF1 PDGFRA RASA2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.8 PDGFRA
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.8 PDGFRA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.8 RASA2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.8 RASA2

MGI Mouse Phenotypes related to Neurofibromatosis, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.55 KIT NF1 PDGFRA RASA1 SDHD
2 limbs/digits/tail MP:0005371 9.26 KIT NF1 PDGFRA RASA1
3 neoplasm MP:0002006 8.92 KIT NF1 PDGFRA SDHD

Drugs & Therapeutics for Neurofibromatosis, Type I

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

(show top 50) (show all 163)
# 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
Doxazosin Approved Phase 4 74191-85-8 3157
4
Phenoxybenzamine Approved Phase 4 59-96-1 4768
5
Trametinib Approved Phase 4 871700-17-3 11707110
6
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
7 Neurotransmitter Agents Phase 4
8 Dopamine Uptake Inhibitors Phase 4
9 Dopamine Agents Phase 4
10 Adrenergic Antagonists Phase 4
11 Adrenergic alpha-Antagonists Phase 4
12 Vasodilator Agents Phase 4
13 Adrenergic Agents Phase 4
14 Antihypertensive Agents Phase 4
15
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
16
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
17
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
18
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
19 Hormones Phase 2, Phase 3
20 Sodium Channel Blockers Phase 2, Phase 3
21 Tranquilizing Agents Phase 2, Phase 3
22 Antipsychotic Agents Phase 2, Phase 3
23 Anticonvulsants Phase 2, Phase 3
24 Chlorhexidine gluconate Phase 2, Phase 3
25 Psychotropic Drugs Phase 2, Phase 3
26 Diuretics, Potassium Sparing Phase 2, Phase 3
27 Calcium, Dietary Phase 2, Phase 3
28 Central Nervous System Depressants Phase 2, Phase 3
29 calcium channel blockers Phase 2, Phase 3
30 Antimitotic Agents Phase 3
31
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
32
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
33
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
34
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
35
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
36
leucovorin Approved Phase 2 58-05-9 6006 143
37
Vinblastine Approved Phase 2 865-21-4 13342 241903
38
Etoposide Approved Phase 2 33419-42-0 36462
39
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
40
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
41
Ifosfamide Approved Phase 2 3778-73-2 3690
42
Lenograstim Approved, Investigational Phase 2 135968-09-1
43
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
44
Xylometazoline Approved, Investigational Phase 1, Phase 2 526-36-3 5709
45
Pancrelipase Approved, Investigational Phase 2 53608-75-6
46
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
47
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
48
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
49
Aminolevulinic acid Approved Phase 2 106-60-5 137
50
Caffeine Approved Phase 2 58-08-2 2519

Interventional clinical trials:

(show top 50) (show all 168)
# Name Status NCT ID Phase Drugs
1 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
2 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
3 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
4 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
5 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
6 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Recruiting NCT02471339 Phase 3
7 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
8 A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG) Recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
9 A Phase III Study Comparing Two Carboplatin Containing Regimens for Children and Young Adults With Previously Untreated Low Grade Glioma Recruiting NCT02455245 Phase 3 Carboplatin;Vincristine
10 A Phase 3 Randomized Non-Inferiority Study of Carboplatin and Vincristine Versus Selumetinib (NSC# 748727) in Newly Diagnosed or Previously Untreated Low-Grade Glioma (LGG) Not Associated With BRAFV600E Mutations or Systemic Neurofibromatosis Type 1 (NF1) Not yet recruiting NCT04166409 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
11 Medical Treatment of "High-Risk" Neurofibromas in Patients With Type 1 Neurofibromatosis: A Clinical Trial of Sequential Medical Therapies Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
12 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
13 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
14 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
15 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
16 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
17 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
18 Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated High Grade Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
19 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
20 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
21 Phase 2 Study of the mTOR Inhibitor Everolimus in Combination With Bevacizumab in Patients With Sporadic and Neurofibromatosis Type 1 (NF1) Related Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
22 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
23 A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults With NF1-Associated Morbid Plexiform Neurofibromas Completed NCT02096471 Phase 2 PD-0325901
24 Clinical Assessment of the Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With Neurofibromatosis Type 1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
25 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
26 A Phase I/II Trial of Ganetespib in Combination With the mTOR Inhibitor Sirolimus for Patients With Recurrent or Refractory Sarcomas Including Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
27 A Phase II Trial of Mutation-Targeted Therapy With Sunitinib or Everolimus in Patients 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
28 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
29 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
30 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
31 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
32 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
33 A Single Arm, Single Center, Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Completed NCT01490476 Phase 2 RAD001
34 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
35 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
36 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
37 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
38 A Phase 2b Trial of the MEK 1/2 Inhibitor (MEKi) PD-0325901 in Adult and Pediatric Patients With Neurofibromatosis Type 1 (NF1)-Associated Inoperable Plexiform Neurofibromas (PNs) That Are Causing Significant Morbidity Recruiting NCT03962543 Phase 2 PD-0325901 oral capsule
39 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
40 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
41 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
42 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate
43 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
44 SARC031: A Phase 2 Trial of the MEK Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Combination With the mTOR Inhibitor Sirolimus for Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Recruiting NCT03433183 Phase 2 Selumetinib;Sirolimus
45 A Phase II Trial on the Effect of Low-Dose Versus High-Dose Vitamin D Supplementation on Bone Mass in Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
46 Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT02407405 Phase 2 Selumetinib
47 Phase I/II Trial of PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2 PLX3397
48 Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
49 A Phase 2 Study of Trametinib for Patients With Pediatric Glioma or Plexiform Neurofibroma With Refractory Tumor and Activation of the MAPK/ERK Pathway. Recruiting NCT03363217 Phase 1, Phase 2 Trametinib
50 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Recruiting NCT03231306 Phase 2 Binimetinib

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 29 NF1

Anatomical Context for Neurofibromatosis, Type I

MalaCards organs/tissues related to Neurofibromatosis, Type I:

40
Skin, Brain, Eye, Bone, Spinal Cord, Breast, Testes

Publications for Neurofibromatosis, Type I

Articles related to Neurofibromatosis, Type I:

(show top 50) (show all 1715)
# Title Authors PMID Year
1
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 24 6 56
15520408 2004
2
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. 6 56 24
12483293 2003
3
Neurofibromatosis type 1 revisited. 54 56 24
19117870 2009
4
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 6 56
17406642 2007
5
Heterozygous mutations of OTX2 cause severe ocular malformations. 56 6
15846561 2005
6
Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. 6 56
10677298 2000
7
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 6 56
9668168 1998
8
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. 56 6
9180088 1997
9
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 6 56
9003501 1997
10
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 6 24 61
8807336 1996
11
Screening for truncated NF1 proteins. 6 56
7874161 1994
12
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 6 56
1302608 1992
13
A de novo Alu insertion results in neurofibromatosis type 1. 56 6
1719426 1991
14
In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients. 24 56
26393470 2015
15
Growth behavior of plexiform neurofibromas after surgery. 24 56
23598713 2013
16
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 6 24
19449407 2009
17
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. 24 56
17668375 2007
18
Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1. 24 56
17327286 2007
19
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. 56 24
16571643 2006
20
Frequency of incidental intracranial aneurysms in neurofibromatosis type 1. 56 24
15690406 2005
21
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. 56 24
12180143 2002
22
Malignant peripheral nerve sheath tumours in neurofibromatosis 1. 56 24
12011145 2002
23
Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. 56 24
11283797 2001
24
Growth in North American white children with neurofibromatosis 1 (NF1). 56 24
11106357 2000
25
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. 24 56
11078559 2000
26
Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. 56 24
10699117 2000
27
Neurofibromatosis type 1 growth charts. 56 24
10588837 1999
28
Images of Lisch nodules across the spectrum. 56 24
8325432 1993
29
Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1. 61 56
18089636 2008
30
Multiple roles for neurofibromin in skeletal development and growth. 61 56
17317783 2007
31
Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. 61 56
11793011 2002
32
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. 54 56
11565554 2001
33
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. 56 61
10973261 2000
34
Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 54 56
10754001 2000
35
New function for NF1 tumor suppressor. 56 54
10692105 2000
36
A search for evidence of somatic mutations in the NF1 gene. 56 61
10633134 2000
37
A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. 6 54
10721668 2000
38
Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. 6 54
9639526 1998
39
A mouse model for the learning and memory deficits associated with neurofibromatosis type I. 61 56
9054942 1997
40
RNA processing and clinical variability in neurofibromatosis type I (NF1). 61 56
9300663 1997
41
Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma. 61 56
9003867 1997
42
Molecular genetics of neurofibromatosis type 1 (NF1). 61 56
8825042 1996
43
Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. 6 54
8664912 1996
44
Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. 56 54
8302341 1994
45
Somatic mutations in the neurofibromatosis 1 gene in human tumors. 54 6
1568247 1992
46
"Vascular neurofibromatosis" and infantile gangrene. 61 56
2510517 1989
47
Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17. 61 56
2577271 1989
48
Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I. 61 56
2491780 1989
49
Close flanking markers for neurofibromatosis type I (NF1). 56 61
2491781 1989
50
Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. 56 61
2491782 1989

Variations for Neurofibromatosis, Type I

ClinVar genetic disease variations for Neurofibromatosis, Type I:

6 (show top 50) (show all 3209) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.5845A>T (p.Arg1949Ter)SNV Pathogenic 335 rs267606595 17:29661951-29661951 17:31334933-31334933
2 NF1 NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu)SNV Pathogenic 336 rs137854550 17:29585518-29585518 17:31258500-31258500
3 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter)SNV Pathogenic 343 rs137854552 17:29661945-29661945 17:31334927-31334927
4 NF1 NM_000267.3(NF1):c.5448dup (p.Ser1817fs)duplication Pathogenic 337 rs267606596 17:29654759-29654759 17:31327741-31327741
5 NF1 NM_000267.3(NF1):c.5465_5466insT (p.Lys1823fs)insertion Pathogenic 338 rs267606597 17:29654776-29654777 17:31327758-31327759
6 NF1 NM_000267.3(NF1):c.6427C>A (p.Leu2143Met)SNV Pathogenic 339 rs137854551 17:29664448-29664448 17:31337430-31337430
7 NF1 NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn)SNV Pathogenic 340 rs267606598 17:29664532-29664532 17:31337514-31337514
8 NF1 NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter)SNV Pathogenic 344 rs137854560 17:29576111-29576111 17:31249093-31249093
9 NF1 NM_000267.3(NF1):c.3113+1G>ASNV Pathogenic 345 rs267606599 17:29557401-29557401 17:31230383-31230383
10 NF1 NM_000267.3(NF1):c.1541_1542del (p.Gln514fs)deletion Pathogenic 346 rs267606600 17:29546036-29546037 17:31219018-31219019
11 NF1 NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter)SNV Pathogenic 350 rs137854555 17:29588828-29588828 17:31261810-31261810
12 NF1 NM_000267.3(NF1):c.1642-8A>GSNV Pathogenic 352 rs267606602 17:29548860-29548860 17:31221842-31221842
13 NF1 NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro)SNV Pathogenic 353 rs137854556 17:29562747-29562747 17:31235729-31235729
14 NF1 NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys)SNV Pathogenic 354 rs137854557 17:29541542-29541542 17:31214524-31214524
15 NF1 NM_000267.3(NF1):c.1523T>C (p.Leu508Pro)SNV Pathogenic 355 rs137854558 17:29541599-29541599 17:31214581-31214581
16 NF1 NM_000267.3(NF1):c.1260+1G>ASNV Pathogenic 356 rs267606603 17:29528504-29528504 17:31201486-31201486
17 NF1 NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter)SNV Pathogenic 357 rs137854559 17:29576048-29576048 17:31249030-31249030
18 NF1 NM_000267.3(NF1):c.5944-5A>GSNV Pathogenic 359 rs267606604 17:29663346-29663346 17:31336328-31336328
19 NF1 NF1, DELdeletion Pathogenic 360
20 NF1 NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter)SNV Pathogenic 361 rs137854562 17:29562641-29562641 17:31235623-31235623
21 NF1 NM_000267.3(NF1):c.2970_2972del (p.Met992del)deletion Pathogenic 363 rs267606606 17:29556972-29556974 17:31229954-31229956
22 NF1 NM_000267.3(NF1):c.3784del (p.Ser1262fs)deletion Pathogenic 367 rs1567852567 17:29562704-29562704 17:31235686-31235686
23 NF1 NM_000267.3(NF1):c.1070T>C (p.Leu357Pro)SNV Pathogenic 368 rs137854563 17:29528062-29528062 17:31201044-31201044
24 NF1 NF1, 1-BP DEL, 4071Cdeletion Pathogenic 370
25 NF1 NM_000267.3(NF1):c.5710G>T (p.Glu1904Ter)SNV Pathogenic 372 rs137854565 17:29657477-29657477 17:31330459-31330459
26 NF1 NM_000267.3(NF1):c.2531T>G (p.Leu844Arg)SNV Pathogenic 373 rs137854566 17:29556164-29556164 17:31229146-31229146
27 NF1 NM_000267.3(NF1):c.4661+1G>CSNV Pathogenic 374 rs1555619056 17:29588876-29588876 17:31261858-31261858
28 NF1 NM_000267.3(NF1):c.574C>T (p.Arg192Ter)SNV Pathogenic 40093 rs397514641 17:29497003-29497003 17:31169985-31169985
29 NF1 NF1, ALU INSinsertion Pathogenic 332
30 NF1 NF1, 5-BP DELdeletion Pathogenic 333
31 NF1 NM_000267.3(NF1):c.1595T>C (p.Leu532Pro)SNV Pathogenic 68302 rs199474737 17:29546090-29546090 17:31219072-31219072
32 NF1 NM_000267.3(NF1):c.1885G>A (p.Gly629Arg)SNV Pathogenic 68308 rs199474738 17:29552152-29552152 17:31225134-31225134
33 NF1 NM_000267.3(NF1):c.2531T>C (p.Leu844Pro)SNV Pathogenic 68322 rs137854566 17:29556164-29556164 17:31229146-31229146
34 NF1 NM_000267.3(NF1):c.2543G>A (p.Gly848Glu)SNV Pathogenic 68324 rs199474748 17:29556176-29556176 17:31229158-31229158
35 NF1 NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly)SNV Pathogenic 68337 rs199474732 17:29560133-29560133 17:31233115-31233115
36 NF1 NM_000267.3(NF1):c.3610C>T (p.Arg1204Trp)SNV Pathogenic 68338 rs199474732 17:29560133-29560133 17:31233115-31233115
37 NF1 NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln)SNV Pathogenic 68341 rs137854556 17:29562747-29562747 17:31235729-31235729
38 NF1 NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly)SNV Pathogenic 68351 rs199474743 17:29587421-29587421 17:31260403-31260403
39 NF1 NM_000267.3(NF1):c.5938G>A (p.Gly1980Arg)SNV Pathogenic 68358 rs199474751 17:29662044-29662044 17:31335026-31335026
40 NF1 NM_000267.3(NF1):c.1392+1G>ASNV Pathogenic 80403 rs267604791 17:29533390-29533390 17:31206372-31206372
41 NF1 NM_000267.3(NF1):c.2033dup (p.Ile679fs)duplication Pathogenic 141513 rs587781807 17:29553484-29553484 17:31226466-31226466
42 NF1 NM_000267.3(NF1):c.5776G>T (p.Glu1926Ter)SNV Pathogenic 141892 rs587782088 17:29661882-29661882 17:31334864-31334864
43 NF1 NM_000267.3(NF1):c.55G>T (p.Glu19Ter)SNV Pathogenic 186896 rs786203307 17:29422382-29422382 17:31095364-31095364
44 NF1 NM_001128147.3(NF1):c.495_498TGTT[1] (p.Cys167fs)short repeat Pathogenic 185021 rs786201874 17:29496928-29496931 17:31169910-31169913
45 NF1 NM_000267.3(NF1):c.625C>T (p.Gln209Ter)SNV Pathogenic 187069 rs786203448 17:29508478-29508478 17:31181460-31181460
46 NF1 NM_000267.3(NF1):c.910C>T (p.Arg304Ter)SNV Pathogenic 187722 rs786203950 17:29527461-29527461 17:31200443-31200443
47 NF1 NM_000267.3(NF1):c.1756_1759del (p.Thr586fs)deletion Pathogenic 186215 rs786202782 17:29550496-29550499 17:31223478-31223481
48 NF1 NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs)deletion Pathogenic 185963 rs1321848637 17:29559860-29559863 17:31232842-31232845
49 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln)SNV Pathogenic 185354 rs786202112 17:29654857-29654857 17:31327839-31327839
50 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter)SNV Pathogenic 187652 rs786203896 17:29657486-29657486 17:31330468-31330468

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

73 (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

Copy number variations for Neurofibromatosis, Type I from CNVD:

7 (show all 42)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 108865 17 23200000 28800000 Microdeletion AK3P1b Neurofibromatosis type 1
2 108866 17 23200000 28800000 Microdeletion ATAD5 Neurofibromatosis type 1
3 108868 17 23200000 28800000 Microdeletion C17orf42 Neurofibromatosis type 1
4 108869 17 23200000 28800000 Microdeletion C17orf79 Neurofibromatosis type 1
5 108870 17 23200000 28800000 Microdeletion CENTA2 Neurofibromatosis type 1
6 108871 17 23200000 28800000 Microdeletion CRLF3 Neurofibromatosis type 1
7 108872 17 23200000 28800000 Microdeletion DPRXP4 Neurofibromatosis type 1
8 108873 17 23200000 28800000 Microdeletion EVI2A Neurofibromatosis type 1
9 108874 17 23200000 28800000 Microdeletion EVI2B Neurofibromatosis type 1
10 108875 17 23200000 28800000 Microdeletion LOC646013 Neurofibromatosis type 1
11 108876 17 23200000 28800000 Microdeletion LOC646021 Neurofibromatosis type 1
12 108877 17 23200000 28800000 Microdeletion LOC646037 Neurofibromatosis type 1
13 108878 17 23200000 28800000 Microdeletion LRRC37B Neurofibromatosis type 1
14 108879 17 23200000 28800000 Microdeletion LRRC37B2 Neurofibromatosis type 1
15 108880 17 23200000 28800000 Microdeletion MIRN193A Neurofibromatosis type 1
16 108881 17 23200000 28800000 Microdeletion MIRN365-2 Neurofibromatosis type 1
17 108882 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
18 108883 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
19 108884 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
20 108885 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
21 108886 17 23200000 28800000 Microdeletion OMG Neurofibromatosis type 1
22 108887 17 23200000 28800000 Microdeletion RAB11FIP4 Neurofibromatosis type 1
23 108888 17 23200000 28800000 Microdeletion RNF135 Neurofibromatosis type 1
24 108889 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
25 108890 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
26 108891 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
27 108892 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
28 108893 17 23200000 28800000 Microdeletion UTP6 Neurofibromatosis type 1
29 108894 17 23200000 28800000 Microdeletion or microduplication NF1 Neurofibromatosis type 1
30 109395 17 25800000 31800000 Deletion NF1 Neurofibromatosis type 1
31 109408 17 25800000 31800000 Copy number NF1 Neurofibromatosis type 1
32 109504 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
33 109505 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
34 109506 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
35 109522 17 26576214 26734130 Deletion EVI2A Neurofibromatosis type 1
36 109523 17 26576214 26734130 Deletion EVI2B Neurofibromatosis type 1
37 109524 17 26576214 26734130 Deletion NF1 Neurofibromatosis type 1
38 109525 17 26576214 26734130 Deletion OMG Neurofibromatosis type 1
39 109526 17 26576214 26734130 Deletion RAB11FIP4 Neurofibromatosis type 1
40 109605 17 27245834 27562095 Deletion LRRC37B Neurofibromatosis type 1
41 109606 17 27245834 27562095 Deletion RHOT1 Neurofibromatosis type 1
42 109607 17 27245834 27562095 Deletion SUZ12 Neurofibromatosis type 1

Expression for Neurofibromatosis, Type I

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

Pathways for Neurofibromatosis, Type I

Pathways related to Neurofibromatosis, Type I according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 RASA2 RASA1 PDGFRA NF1 KIT
2
Show member pathways
13.07 RASA2 RASA1 PDGFRA NF1 KIT
3
Show member pathways
12.91 RASA2 RASA1 PDGFRA NF1 KIT
4 12.02 RASA2 RASA1 PDGFRA NF1 KIT
5
Show member pathways
11.91 RASA2 RASA1 NF1
6
Show member pathways
11.68 RASA2 RASA1 NF1
7
Show member pathways
11.67 RASA2 RASA1 PDGFRA NF1 KIT
8
Show member pathways
11.61 RASA2 RASA1 NF1
9 11.4 PDGFRA KIT
10 11.28 PDGFRA NF1
11 11.25 PDGFRA KIT
12
Show member pathways
11.23 PDGFRA KIT
13 11.09 RASA2 RASA1 NF1
14
Show member pathways
11.06 RASA2 RASA1 NF1
15
Show member pathways
11.03 PDGFRA KIT
16 11 RASA1 NF1

GO Terms for Neurofibromatosis, Type I

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.67 RASA2 RASA1 NF1
2 positive regulation of cell migration GO:0030335 9.58 PDGFRA KIT CDKN2B-AS1
3 hematopoietic progenitor cell differentiation GO:0002244 9.51 PDGFRA KIT
4 visual learning GO:0008542 9.48 NF1 KIT
5 pigmentation GO:0043473 9.46 NF1 KIT
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 PDGFRA KIT
7 adrenal gland development GO:0030325 9.37 PDGFRA NF1
8 regulation of GTPase activity GO:0043087 9.33 RASA2 RASA1 NF1
9 negative regulation of cell-matrix adhesion GO:0001953 9.32 RASA1 NF1
10 positive regulation of phospholipase C activity GO:0010863 9.26 PDGFRA KIT
11 negative regulation of Ras protein signal transduction GO:0046580 9.13 RASA2 RASA1 NF1
12 MAPK cascade GO:0000165 9.02 RASA2 RASA1 PDGFRA NF1 KIT

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 PDGFRA KIT
2 GTPase activator activity GO:0005096 8.8 RASA2 RASA1 NF1

Sources for Neurofibromatosis, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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