MCID: NRF026
MIFTS: 73

Neurofibromatosis, Type Iv, of Riccardi

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurofibromatosis, Type Iv, of Riccardi

MalaCards integrated aliases for Neurofibromatosis, Type Iv, of Riccardi:

Name: Neurofibromatosis, Type Iv, of Riccardi 57 76
Neurofibromatosis 12 76 53 54 55 43 15
Neurofibromatosis Type 1 12 53 25 37 55
Neurofibromatosis 1 12 24 25 44 73
Neurofibromatosis Type Ii 76 24 53 25
Neurofibromatosis Type 2 12 76 53 25
Neurofibromatosis 2 24 25 44 73
Von Recklinghausen Disease 24 53 25
Nf2 24 53 25
Nf1 24 53 25
Neurofibromatosis, Type 4, of Riccardi 44 73
Bilateral Acoustic Neurofibromatosis 53 25
Peripheral Neurofibromatosis 12 25
Central Neurofibromatosis 12 25
Neurofibromatoses 44 73
Von Recklinghausen's Neurofibromatosis 24
Type Iv Neurofibromatosis of Riccardi 12
Neurofibromatosis, Variant Form of 57
Recklinghausen's Neurofibromatosis 12
Schwannoma, Acoustic, Bilateral 25
Acoustic Schwannomas Bilateral 53
Neurofibromatosis Central Type 53
Recklinghausen Disease, Nerve 25
Acoustic Neurinoma Bilateral 53
Neurofibromatosis, Atypical 57
Acoustic Neurofibromatosis 12
Familial Acoustic Neuromas 25
Atypical Neurofibromatosis 29
Neurofibromatosis Type Iv 12
Von Reklinghausen Disease 12
Familial Acoustic Neuroma 73
Neurofibromatosis Type 4 12
Neurofibromatosis Type I 76
Recklinghausen's Disease 53
Type 1 Neurofibromatosis 53
Nf Iv 57
Banf 25
Nf4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneous


HPO:

32
neurofibromatosis, type iv, of riccardi:
Inheritance heterogeneous autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is virtually complete after childhood...
Penetrance Penetrance is close to 100%. virtually all individuals who have a germline pathogenic variant develop the disease in an average lifetime...

Classifications:



Summaries for Neurofibromatosis, Type Iv, of Riccardi

NINDS : 54 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.

MalaCards based summary : Neurofibromatosis, Type Iv, of Riccardi, also known as neurofibromatosis, is related to neurofibromatosis, familial spinal and neurofibromatosis-noonan syndrome, and has symptoms including neuralgia, ataxia and headache. An important gene associated with Neurofibromatosis, Type Iv, of Riccardi is CDKN2B-AS1 (CDKN2B Antisense RNA 1
It plays an important role in neurofibromatosis
Dysfunction Pattern: ), 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, bone and brain, and related phenotypes are atypical neurofibromatosis and lisch nodules

NIH Rare Diseases : 53 Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms:Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy, and/or medicines.

MedlinePlus : 43 Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth. Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years. Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke

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.

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

Description from OMIM: 162270
GeneReviews: NBK1109 NBK1201

Related Diseases for Neurofibromatosis, Type Iv, of Riccardi

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

(show top 50) (show all 612)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, familial spinal 34.8 NF1 NF2
2 neurofibromatosis-noonan syndrome 34.6 NF1 PTPN11
3 autosomal dominant café au lait spots 33.7 NF1 PTPN11
4 neurofibromatosis, type i 33.1 CDKN2B-AS1 KIT NF1 PDGFRA RASA1 RASA2
5 neurofibrosarcoma 33.0 NF1 NF2
6 legius syndrome 32.9 MSH6 NF1 PTPN11
7 neurofibroma 32.1 KIT NF1 NF2 PDGFRA
8 malignant peripheral nerve sheath tumor 32.1 KIT NF1 NF2 PDGFRA
9 pilocytic astrocytoma 32.0 HRAS NF1 PTPN11
10 paraganglioma and gastric stromal sarcoma 31.7 SDHB SDHC SDHD
11 neurilemmoma 31.7 KIT NF1 NF2 PDGFRA
12 plexiform neurofibroma 31.5 CDKN2B-AS1 NF1 NF2
13 noonan syndrome 1 31.3 HRAS NF1 PTPN11 RASA1 RASA2
14 gastrointestinal stromal tumor 30.6 KIT NF1 PDGFRA SDHB SDHC SDHD
15 pheochromocytoma 30.4 NF1 RET SDHB SDHC SDHD VHL
16 neuroma 30.4 NF1 NF2 RET
17 plexiform schwannoma 30.4 KIT NF1 NF2
18 hereditary paraganglioma-pheochromocytoma syndromes 30.2 RET SDHB SDHC SDHD VHL
19 leopard syndrome 30.0 HRAS NF1 PTPN11
20 atypical neurofibroma 29.6 NF1 NF2
21 desmoid tumor 29.6 KIT PDGFRA
22 leukemia, chronic myeloid 29.3 HRAS KIT PDGFRA RASA1
23 leukemia, acute myeloid 28.9 CDKN2B-AS1 HRAS KIT PTPN11
24 leukemia 28.8 CDKN2B-AS1 KIT NF1 PTPN11
25 multiple endocrine neoplasia 28.8 NF1 RET SDHB SDHC VHL
26 phaeochromocytoma 28.5 NF1 RET SDHB SDHC SDHD VHL
27 skin melanoma 28.4 HRAS KIT PMS2
28 carney triad 28.4 KIT PDGFRA SDHB SDHC SDHD
29 paraganglioma 28.3 NF1 RET SDHB SDHC SDHD VHL
30 rhabdomyosarcoma 28.0 MSH6 PDGFRA PMS2 PTPN11
31 von hippel-lindau syndrome 27.8 NF1 RET SDHB SDHC SDHD VHL
32 myelodysplastic syndrome 27.8 HRAS KIT NF1 PTPN11
33 neurofibromatosis, type ii 12.6
34 neurofibromatosis, type iii, mixed central and peripheral 12.0
35 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.0
36 neurilemmomatosis 12.0
37 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.7
38 hyaline fibromatosis syndrome 11.4
39 chromosome 17q11.2 deletion syndrome 11.4
40 watson syndrome 11.2
41 optic pathway glioma 11.1
42 optic nerve glioma 11.1
43 glioblastoma 11.1
44 gigantism 11.1
45 moyamoya disease 1 11.1
46 acoustic neuroma 11.0
47 neuroendocrine tumor 11.0
48 acromegaly 11.0
49 macroglossia 11.0
50 soft tissue sarcoma 11.0

Comorbidity relations with Neurofibromatosis, Type Iv, of Riccardi via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to Neurofibromatosis, Type Iv, of Riccardi

Symptoms & Phenotypes for Neurofibromatosis, Type Iv, of Riccardi

Symptoms via clinical synopsis from OMIM:

57
Skin:
atypical neurofibromatosis

Eyes:
iris lisch nodules usually absent


Clinical features from OMIM:

162270

Human phenotypes related to Neurofibromatosis, Type Iv, of Riccardi:

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 atypical neurofibromatosis 32 HP:0007524
2 lisch nodules 32 hallmark (90%) HP:0009737
3 cryptorchidism 32 frequent (33%) HP:0000028
4 tall stature 32 frequent (33%) HP:0000098
5 hydrocephalus 32 occasional (7.5%) HP:0000238
6 macrocephaly 32 occasional (7.5%) HP:0000256
7 hearing impairment 32 frequent (33%) HP:0000365
8 abnormal eyelid morphology 32 occasional (7.5%) HP:0000492
9 glaucoma 32 occasional (7.5%) HP:0000501
10 visual impairment 32 occasional (7.5%) HP:0000505
11 abnormal electroretinogram 32 occasional (7.5%) HP:0000512
12 cataract 32 occasional (7.5%) HP:0000518
13 proptosis 32 frequent (33%) HP:0000520
14 myopia 32 occasional (7.5%) HP:0000545
15 chorioretinal coloboma 32 occasional (7.5%) HP:0000567
16 hypertension 32 occasional (7.5%) HP:0000822
17 delayed puberty 32 hallmark (90%) HP:0000823
18 precocious puberty 32 occasional (7.5%) HP:0000826
19 melanocytic nevus 32 hallmark (90%) HP:0000995
20 multiple lipomas 32 hallmark (90%) HP:0001012
21 hypopigmented skin patches 32 occasional (7.5%) HP:0001053
22 heterochromia iridis 32 frequent (33%) HP:0001100
23 seizures 32 occasional (7.5%) HP:0001250
24 ataxia 32 frequent (33%) HP:0001251
25 intellectual disability, mild 32 hallmark (90%) HP:0001256
26 specific learning disability 32 hallmark (90%) HP:0001328
27 joint stiffness 32 occasional (7.5%) HP:0001387
28 freckling 32 frequent (33%) HP:0001480
29 subcutaneous nodule 32 hallmark (90%) HP:0001482
30 abnormality of the respiratory system 32 occasional (7.5%) HP:0002086
31 neurological speech impairment 32 frequent (33%) HP:0002167
32 headache 32 frequent (33%) HP:0002315
33 memory impairment 32 frequent (33%) HP:0002354
34 scoliosis 32 occasional (7.5%) HP:0002650
35 skeletal dysplasia 32 frequent (33%) HP:0002652
36 pheochromocytoma 32 occasional (7.5%) HP:0002666
37 recurrent fractures 32 frequent (33%) HP:0002757
38 kyphosis 32 occasional (7.5%) HP:0002808
39 genu valgum 32 frequent (33%) HP:0002857
40 meningioma 32 hallmark (90%) HP:0002858
41 genu varum 32 occasional (7.5%) HP:0002970
42 slender long bone 32 frequent (33%) HP:0003100
43 abnormality of the hip bone 32 occasional (7.5%) HP:0003272
44 paresthesia 32 frequent (33%) HP:0003401
45 short stature 32 occasional (7.5%) HP:0004322
46 chronic myelogenous leukemia 32 occasional (7.5%) HP:0005506
47 attention deficit hyperactivity disorder 32 frequent (33%) HP:0007018
48 neoplasm of the gastrointestinal tract 32 occasional (7.5%) HP:0007378
49 generalized hyperpigmentation 32 hallmark (90%) HP:0007440
50 multiple cafe-au-lait spots 32 hallmark (90%) HP:0007565

UMLS symptoms related to Neurofibromatosis, Type Iv, of Riccardi:


neuralgia, ataxia, headache, tinnitus, back pain, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.65 HRAS
2 Decreased viability GR00173-A 10.65 PDGFRA
3 Decreased viability GR00221-A-1 10.65 RET SDHD VHL HRAS NF1 KIT
4 Decreased viability GR00221-A-2 10.65 RET SDHD VHL HRAS NF1
5 Decreased viability GR00221-A-3 10.65 RASA1 PDGFRA HRAS NF2
6 Decreased viability GR00221-A-4 10.65 RASA1 PDGFRA RASA2 RET SDHD NF1
7 Decreased viability GR00231-A 10.65 RET
8 Decreased viability GR00301-A 10.65 RET VHL KIT
9 Decreased viability GR00381-A-1 10.65 SDHD RASA1
10 Decreased viability GR00402-S-2 10.65 RASA2 RET SDHD VHL HRAS NF1
11 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 NF1 VHL
12 Increased mitotic index GR00110-A-0 8.8 RASA2 RET SDHD

MGI Mouse Phenotypes related to Neurofibromatosis, Type Iv, of Riccardi:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 HRAS KIT MSH6 NF1 NF2 OMG
2 cardiovascular system MP:0005385 10.29 SDHB SDHD VHL HRAS KIT NF1
3 endocrine/exocrine gland MP:0005379 10.29 HRAS KIT NF1 NF2 PDGFRA PMS2
4 cellular MP:0005384 10.28 KIT MSH6 NF1 PDGFRA PMS2 PTPN11
5 mortality/aging MP:0010768 10.28 HRAS KIT MSH6 NF1 NF2 PDGFRA
6 hematopoietic system MP:0005397 10.26 KIT MSH6 NF1 PDGFRA PMS2 PTPN11
7 growth/size/body region MP:0005378 10.24 HRAS KIT NF1 NF2 PDGFRA PTPN11
8 digestive/alimentary MP:0005381 10.22 PTPN11 RASA1 RET VHL HRAS KIT
9 embryo MP:0005380 10.21 KIT NF1 NF2 PDGFRA PTPN11 RASA1
10 immune system MP:0005387 10.19 MSH6 NF1 NF2 PDGFRA PMS2 PTPN11
11 craniofacial MP:0005382 10.18 HRAS KIT NF1 NF2 PDGFRA PTPN11
12 neoplasm MP:0002006 10.15 RET SDHB SDHD VHL HRAS KIT
13 integument MP:0010771 10.08 HRAS KIT MSH6 NF1 NF2 PDGFRA
14 limbs/digits/tail MP:0005371 10 KIT NF1 PDGFRA PTPN11 RASA1 RET
15 normal MP:0002873 9.96 HRAS KIT NF1 OMG PDGFRA PTPN11
16 muscle MP:0005369 9.95 KIT NF1 PDGFRA PTPN11 RASA1 RET
17 no phenotypic analysis MP:0003012 9.92 PTPN11 RASA1 RET SDHB HRAS KIT
18 renal/urinary system MP:0005367 9.76 HRAS KIT NF1 NF2 PDGFRA RET
19 respiratory system MP:0005388 9.5 HRAS KIT NF1 NF2 PDGFRA PTPN11
20 skeleton MP:0005390 9.28 HRAS KIT NF1 NF2 PDGFRA PTPN11

Drugs & Therapeutics for Neurofibromatosis, Type Iv, of Riccardi

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

(show top 50) (show all 185)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
5
Palbociclib Approved, Investigational Phase 4,Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
6
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
7
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
8
Sunitinib Approved, Investigational Phase 4,Phase 2 341031-54-7, 557795-19-4 5329102
9
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
10
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
11
Olaparib Approved Phase 4,Phase 2 763113-22-0 23725625
12
Trametinib Approved Phase 4,Phase 2,Phase 1 871700-17-3 11707110
13
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
14
Ceritinib Approved Phase 4 1032900-25-6
15
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
16
Ramucirumab Approved, Investigational Phase 4 947687-13-0
17
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
18
Lapatinib Approved March 2007, Investigational Phase 4,Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
19 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
21 Central Nervous System Stimulants Phase 4,Not Applicable
22 Dopamine Agents Phase 4
23 Dopamine Uptake Inhibitors Phase 4
24 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Neurotransmitter Uptake Inhibitors Phase 4
26 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1,Early Phase 1
28 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
29
Erlotinib Hydrochloride Phase 4,Phase 2,Phase 1 183319-69-9 176871
30 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 220127-57-1 123596
31 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
32 Poly(ADP-ribose) Polymerase Inhibitors Phase 4,Phase 2
33
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
34
Tamsulosin Approved, Investigational Phase 3,Phase 1 106133-20-4 129211
35
Pregabalin Approved, Illicit, Investigational Phase 3,Phase 1 148553-50-8 5486971
36
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
37
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
38 Orange Approved, Nutraceutical Phase 3
39 Analgesics Phase 3,Phase 2,Phase 1
40 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
41 Carboxymethylcellulose Sodium Phase 3,Phase 1,Phase 2
42 Adrenergic Agents Phase 3,Phase 1
43 Adrenergic alpha-1 Receptor Antagonists Phase 3,Phase 1
44 Adrenergic alpha-Antagonists Phase 3,Phase 1
45 Adrenergic Antagonists Phase 3,Phase 1
46 Anticonvulsants Phase 2, Phase 3,Phase 3,Phase 1
47 calcium channel blockers Phase 2, Phase 3,Phase 3,Phase 1
48 Calcium, Dietary Phase 2, Phase 3,Phase 3,Phase 1
49 Anti-Anxiety Agents Phase 3,Phase 1
50 Central Nervous System Depressants Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 190)
# Name Status NCT ID Phase Drugs
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
2 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
3 Molecular Profiling and Matched Targeted Therapy for Patients With Metastatic Melanoma Not yet recruiting NCT02645149 Phase 4 Standard therapy or clinical trial;Matched targeted therapy;Trametinib and / or supportive care
4 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
5 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;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 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
8 Clinical Trial to Evaluate the Efficacy and Safety of 'GLA5PR GLARS-NF1 Tab.' in Peripheral Neuropathic Pain Recruiting NCT03221907 Phase 3 GLA5PR GLARS-NF1;GLA5PR GLARS-NF1 placebo;Pregabalin;Pregabalin placebo
9 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
10 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
11 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
12 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
13 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
14 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
15 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
16 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
17 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
18 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
19 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
20 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
21 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
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 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
24 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
25 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
26 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
27 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
28 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
29 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
30 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
31 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
32 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2 MEK162
33 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
34 Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Recruiting NCT03109301 Phase 2 Selumetinib (AZD6244 hyd sulfate)
35 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Recruiting NCT01968590 Phase 2 Cholecalciferol
36 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
37 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
38 Interventions for Reading Disabilities in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
39 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
40 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
41 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2 Axitinib
42 Trametinib in Patients With Advanced Neurofibromatosis Type 1 (NF1)-Mutant Non-small Cell Lung Cancer Recruiting NCT03232892 Phase 2 Trametinib
43 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2 Icotinib
44 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
45 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
46 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2 AZD6244
47 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
48 Synaptic Plasticity and Cognitive Function in RASopathies Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
49 Phase I/II Study of MEK162 for Children With Ras/Raf Pathway Activated Tumors Recruiting NCT02285439 Phase 1, Phase 2 MEK162
50 Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2 Selumetinib

Search NIH Clinical Center for Neurofibromatosis, Type Iv, of Riccardi

Cochrane evidence based reviews: neurofibromatosis 1

Genetic Tests for Neurofibromatosis, Type Iv, of Riccardi

Genetic tests related to Neurofibromatosis, Type Iv, of Riccardi:

# Genetic test Affiliating Genes
1 Atypical Neurofibromatosis 29

Anatomical Context for Neurofibromatosis, Type Iv, of Riccardi

MalaCards organs/tissues related to Neurofibromatosis, Type Iv, of Riccardi:

41
Skin, Bone, Brain, Eye, Spinal Cord, Testes, Lung

Publications for Neurofibromatosis, Type Iv, of Riccardi

Articles related to Neurofibromatosis, Type Iv, of Riccardi:

(show top 50) (show all 928)
# Title Authors Year
1
Amusia and its electrophysiological correlates in neurofibromatosis type 1. ( 29898074 )
2018
2
Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods. ( 29097016 )
2018
3
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. ( 29704429 )
2018
4
A combination of skeletal deformations of the dorsal mandible and temporomandibular region detected in orthopantomograms of patients with neurofibromatosis type 1 indicates an associated ipsilateral plexiform neurofibroma. ( 29764701 )
2018
5
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. ( 29449315 )
2018
6
Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome. ( 29970534 )
2018
7
High-concentration topical capsaicin in the management of refractory neuropathic pain in patients with neurofibromatosis type 1: a case series. ( 29368950 )
2018
8
Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial UK cohort. ( 29343527 )
2018
9
Immunohistochemical analysis of epigenetic factors to differentiate malignant peripheral nerve sheath tumor from benign neurofibroma in a patient with mosaic neurofibromatosis type 1: H3 lysine 27 trimethylation stain and enhancer of zeste homolog 2 stain. ( 29687471 )
2018
10
Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. ( 29294511 )
2018
11
Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. ( 29398874 )
2018
12
Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1. ( 29977746 )
2018
13
Simultaneous supratentorial and infratentorial pilocytic astrocytoma in an adult patient with concurrent neurofibromatosis type 1 and HIV infection. ( 29908379 )
2018
14
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
15
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. ( 29893754 )
2018
16
Neurofibromatosis type 1 and optic pathway glioma: Molecular interplay and therapeutic insights. ( 29049847 )
2018
17
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
2018
18
Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas. ( 29600694 )
2018
19
Intraorbital ancient pilocytic astrocytoma of the optic nerve in neurofibromatosis type 1 patient presenting with sudden ocular pain. ( 29511546 )
2018
20
Communicating hydrocephalus and coexisting nonenhancing tumor: An ominous sign for patients with neurofibromatosis type 1? ( 29682141 )
2018
21
Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case. ( 28931105 )
2017
22
Becker's nevus in neurofibromatosis type 1: a single center experience in Italy. ( 28906096 )
2017
23
Rectal carcinoma and multiple gastrointestinal stromal tumors (GIST) of the small intestine in a patient with neurofibromatosis type 1: a case report. ( 28835241 )
2017
24
Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic. ( 28332154 )
2017
25
Neurofibromatosis type 1 and lichen sclerosus: an uncommon association. ( 27978612 )
2017
26
Numerical activities of daily living in adults with neurofibromatosis type 1. ( 28853219 )
2017
27
Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. ( 28658406 )
2017
28
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
29
Soft Tissue Perineurioma in a Child With Neurofibromatosis Type 1: A Case Report and Review of the Literature. ( 28812461 )
2017
30
Neurofibromatosis type 1 and right mandibular hypoplasia: unusual diagnosis of occlusion of the left common carotid artery. ( 28866440 )
2017
31
Anemic nevus is a new diagnostic criterion for neurofibromatosis type 1. ( 28906098 )
2017
32
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience. ( 28422438 )
2017
33
Giant phaeochromocytoma presenting with an acute stroke: reappraising phaeochromocytoma surveillance for the neurofibromatosis type 1 phakomatosis. ( 29102976 )
2017
34
Development of the pediatric quality of life inventory neurofibromatosis type 1 module items for children, adolescents and young adults: qualitative methods. ( 28078640 )
2017
35
Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1. ( 29138703 )
2017
36
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer. ( 28891274 )
2017
37
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
38
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study. ( 28189268 )
2017
39
Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1. ( 28125404 )
2017
40
Constipation in adults with neurofibromatosis type 1. ( 28814319 )
2017
41
Mixed mucinous adenocarcinoma and somatostatinoma of the ampulla of Vater associated with neurofibromatosis type 1. ( 28693748 )
2017
42
Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis. ( 28433079 )
2017
43
Metastatic angiosarcoma arising in malignant peripheral nerve sheath tumor in a young patient with neurofibromatosis type 1. ( 28548697 )
2017
44
Pilomatrixoma of the Neck/Shoulder Region Mimicking a Rapidly Growing Neoplasm of Peripheral Nerve Sheath Origin in Neurofibromatosis Type 1. ( 29187472 )
2017
45
Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient. ( 29435380 )
2017
46
Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Gliomaa8c. ( 28346917 )
2017
47
Optic Pathway Gliomas Secondary to Neurofibromatosis Type 1. ( 28941532 )
2017
48
Updated nomenclature for human and mouse neurofibromatosis type 1 genes. ( 28804759 )
2017
49
Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report. ( 28851321 )
2017
50
Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome. ( 28367137 )
2017

Variations for Neurofibromatosis, Type Iv, of Riccardi

Copy number variations for Neurofibromatosis, Type Iv, of Riccardi from CNVD:

7 (show top 50) (show all 68)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 107543 17 15900000 22100000 Microdeletion Neurofibromatosis
2 108747 17 22200000 78774742 Deletion Neurofibromatosis
3 108749 17 22200000 78774742 Deletion duplicatio n Neurofibromatosis
4 108858 17 23200000 28800000 Deletion or duplicat ion NF1 Neurofibromatosis
5 108865 17 23200000 28800000 Microdeletion AK3P1b Neurofibromatosis type 1
6 108866 17 23200000 28800000 Microdeletion ATAD5 Neurofibromatosis type 1
7 108868 17 23200000 28800000 Microdeletion C17orf42 Neurofibromatosis type 1
8 108869 17 23200000 28800000 Microdeletion C17orf79 Neurofibromatosis type 1
9 108870 17 23200000 28800000 Microdeletion CENTA2 Neurofibromatosis type 1
10 108871 17 23200000 28800000 Microdeletion CRLF3 Neurofibromatosis type 1
11 108872 17 23200000 28800000 Microdeletion DPRXP4 Neurofibromatosis type 1
12 108873 17 23200000 28800000 Microdeletion EVI2A Neurofibromatosis type 1
13 108874 17 23200000 28800000 Microdeletion EVI2B Neurofibromatosis type 1
14 108875 17 23200000 28800000 Microdeletion LOC646013 Neurofibromatosis type 1
15 108876 17 23200000 28800000 Microdeletion LOC646021 Neurofibromatosis type 1
16 108877 17 23200000 28800000 Microdeletion LOC646037 Neurofibromatosis type 1
17 108878 17 23200000 28800000 Microdeletion LRRC37B Neurofibromatosis type 1
18 108879 17 23200000 28800000 Microdeletion LRRC37B2 Neurofibromatosis type 1
19 108880 17 23200000 28800000 Microdeletion MIRN193A Neurofibromatosis type 1
20 108881 17 23200000 28800000 Microdeletion MIRN365-2 Neurofibromatosis type 1
21 108882 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
22 108883 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
23 108884 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
24 108885 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
25 108886 17 23200000 28800000 Microdeletion OMG Neurofibromatosis type 1
26 108887 17 23200000 28800000 Microdeletion RAB11FIP4 Neurofibromatosis type 1
27 108888 17 23200000 28800000 Microdeletion RNF135 Neurofibromatosis type 1
28 108889 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
29 108890 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
30 108891 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
31 108892 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
32 108893 17 23200000 28800000 Microdeletion UTP6 Neurofibromatosis type 1
33 108894 17 23200000 28800000 Microdeletion or mic roduplication NF1 Neurofibromatosis type 1
34 109393 17 25800000 31800000 Deletion Neurofibromatosis
35 109395 17 25800000 31800000 Deletion NF1 Neurofibromatosis type 1
36 109408 17 25800000 31800000 Copy number NF1 Neurofibromatosis type 1
37 109504 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
38 109505 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
39 109506 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
40 109522 17 26576214 26734130 Deletion EVI2A Neurofibromatosis type 1
41 109523 17 26576214 26734130 Deletion EVI2B Neurofibromatosis type 1
42 109524 17 26576214 26734130 Deletion NF1 Neurofibromatosis type 1
43 109525 17 26576214 26734130 Deletion OMG Neurofibromatosis type 1
44 109526 17 26576214 26734130 Deletion RAB11FIP4 Neurofibromatosis type 1
45 109530 17 26611486 26611711 Deletion Neurofibromatosis
46 109531 17 26612781 26613078 Deletion Neurofibromatosis
47 109532 17 26614112 26614421 Deletion Neurofibromatosis
48 109533 17 26616287 26616583 Deletion Neurofibromatosis
49 109534 17 26642254 28641850 Deletion Neurofibromatosis
50 109539 17 26646606 26646625 Deletion Neurofibromatosis

Expression for Neurofibromatosis, Type Iv, of Riccardi

Search GEO for disease gene expression data for Neurofibromatosis, Type Iv, of Riccardi.

Pathways for Neurofibromatosis, Type Iv, of Riccardi

Pathways related to Neurofibromatosis, Type Iv, of Riccardi according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014

Pathways related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 HRAS KIT NF1 PDGFRA PTPN11 RASA1
2
Show member pathways
13.08 HRAS KIT NF1 PDGFRA PTPN11 RASA1
3
Show member pathways
12.68 HRAS KIT MSH6 PDGFRA PTPN11 RET
4 12.6 HRAS KIT MSH6 PDGFRA RET VHL
5
Show member pathways
12.47 HRAS PDGFRA PTPN11 RASA1
6 12.47 HRAS KIT NF1 PDGFRA RASA1 RASA2
7
Show member pathways
12.29 HRAS KIT PDGFRA PTPN11
8
Show member pathways
12.28 HRAS NF1 PTPN11 RASA1
9
Show member pathways
12.19 HRAS NF1 RASA1 RASA2
10
Show member pathways
12.02 HRAS PDGFRA PTPN11 RASA1
11
Show member pathways
11.94 SDHB SDHC SDHD
12
Show member pathways
11.94 HRAS NF1 RASA1 RASA2
13
Show member pathways
11.91 HRAS NF1 RASA1 RASA2
14
Show member pathways
11.9 HRAS RASA1 RET
15 11.86 HRAS NF1 PTPN11
16
Show member pathways
11.81 SDHB SDHC SDHD
17
Show member pathways
11.81 HRAS KIT NF1 PDGFRA PTPN11 RASA1
18 11.78 HRAS NF1 NF2 PDGFRA
19
Show member pathways
11.77 HRAS PTPN11 RASA1
20
Show member pathways
11.7 HRAS KIT RET
21
Show member pathways
11.53 NF1 RASA1 RASA2
22
Show member pathways
11.52 HRAS PTPN11 RASA1 VHL
23 11.48 HRAS PTPN11 RASA1
24 11.42 HRAS NF1 RET
25 11.36 HRAS PTPN11 RASA1
26 11.27 HRAS RASA1 RET
27 11.27 HRAS KIT PDGFRA RET
28 11.17 HRAS NF1 RASA1
29 10.84 HRAS PTPN11 RASA1 RET

GO Terms for Neurofibromatosis, Type Iv, of Riccardi

Cellular components related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 9.26 MSH6 PMS2
2 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
3 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.13 NF1 RASA1 RASA2
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

Biological processes related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.92 KIT PDGFRA RASA1 RET VHL
2 positive regulation of GTPase activity GO:0043547 9.89 HRAS NF1 RASA1 RASA2
3 negative regulation of signal transduction GO:0009968 9.75 KIT PDGFRA RET
4 positive regulation of cell migration GO:0030335 9.73 HRAS KIT PDGFRA RET
5 phosphatidylinositol phosphorylation GO:0046854 9.72 KIT PDGFRA PTPN11
6 regulation of GTPase activity GO:0043087 9.69 NF1 RASA1 RASA2
7 ephrin receptor signaling pathway GO:0048013 9.67 HRAS PTPN11 RASA1
8 positive regulation of MAPK cascade GO:0043410 9.67 HRAS KIT PDGFRA RET
9 positive regulation of kinase activity GO:0033674 9.63 KIT PDGFRA RET
10 adrenal gland development GO:0030325 9.58 NF1 PDGFRA
11 somatic hypermutation of immunoglobulin genes GO:0016446 9.57 MSH6 PMS2
12 megakaryocyte development GO:0035855 9.56 KIT PTPN11
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.55 HRAS KIT PDGFRA PTPN11 RET
14 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.54 NF1 RET
15 tricarboxylic acid cycle GO:0006099 9.5 SDHB SDHC SDHD
16 positive regulation of phospholipase C activity GO:0010863 9.48 KIT PDGFRA
17 negative regulation of Ras protein signal transduction GO:0046580 9.43 NF1 RASA1 RASA2
18 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.4 SDHC SDHD
19 MAPK cascade GO:0000165 9.17 HRAS KIT NF1 PDGFRA RASA1 RASA2
20 negative regulation of cell-matrix adhesion GO:0001953 9.13 NF1 NF2 RASA1

Molecular functions related to Neurofibromatosis, Type Iv, of Riccardi according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 KIT PDGFRA RET
2 electron transfer activity GO:0009055 9.63 SDHB SDHC SDHD
3 MAP kinase kinase kinase activity GO:0004709 9.61 KIT PDGFRA RET
4 mitogen-activated protein kinase kinase binding GO:0031434 9.58 KIT PDGFRA RET
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 KIT PDGFRA PTPN11
6 mismatched DNA binding GO:0030983 9.48 MSH6 PMS2
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 KIT PDGFRA RET
8 ubiquinone binding GO:0048039 9.37 SDHB SDHD
9 succinate dehydrogenase activity GO:0000104 9.16 SDHC SDHD
10 single base insertion or deletion binding GO:0032138 8.96 MSH6 PMS2
11 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Neurofibromatosis, Type Iv, of Riccardi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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