NF4
MCID: NRF026
MIFTS: 63

Neurofibromatosis, Type Iv, of Riccardi (NF4)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Neurofibromatosis, Type Iv, of Riccardi

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

Name: Neurofibromatosis, Type Iv, of Riccardi 56 74
Neurofibromatosis 12 74 52 53 54 42 15 39 17 32
Neurofibromatosis, Type 4, of Riccardi 43 71
Neurofibromatosis 1 43 71
Neurofibromatoses 43 71
Type Iv Neurofibromatosis of Riccardi 12
Neurofibromatosis, Variant Form of 56
Recklinghausen's Neurofibromatosis 12
Peripheral Neurofibromatosis 12
Neurofibromatosis, Atypical 56
Acoustic Neurofibromatosis 12
Atypical Neurofibromatosis 29
Central Neurofibromatosis 12
Neurofibromatosis Type Iv 12
Von Reklinghausen Disease 12
Familial Acoustic Neuroma 71
Neurofibromatosis Type 4 12
Neurofibromatosis Type 1 15
Neurofibromatosis 2 71
Nf Iv 56
Nf4 56

Characteristics:

OMIM:

56
Inheritance:
heterogeneous
autosomal dominant


HPO:

31
neurofibromatosis, type iv, of riccardi:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:8712
OMIM 56 162270
MedGen 41 C0220695
SNOMED-CT via HPO 68 263681008
UMLS 71 C0027831 C0027832 C0162678 more

Summaries for Neurofibromatosis, Type Iv, of Riccardi

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.

MalaCards based summary : Neurofibromatosis, Type Iv, of Riccardi, also known as neurofibromatosis, is related to neurofibromatosis-noonan syndrome and neurofibromatosis, type ii, and has symptoms including seizures, ataxia and tremor. An important gene associated with Neurofibromatosis, Type Iv, of Riccardi is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are lisch nodules and atypical neurofibromatosis

NIH Rare Diseases : 52 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 : 42 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

Wikipedia : 74 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The... more...

More information from OMIM: 162270

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 1387)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 34.8 PTPN11 NF1
2 neurofibromatosis, type ii 33.8 RDX NF2 NF1
3 neurofibromatosis, type i 32.8 SDHD RASA2 RASA1 PDGFRA NF1 CDKN2B-AS1
4 leopard syndrome 32.5 SPRED1 RASA2 RASA1 PTPN11 NF1 HRAS
5 medulloblastoma 32.5 RET PTPN11 PDGFRA NF1 HRAS CDKN2B-AS1
6 hereditary paraganglioma-pheochromocytoma syndromes 31.9 VHL TMEM127 SDHD SDHB SDHAF2 RET
7 multiple endocrine neoplasia 31.1 VHL SDHB RET
8 rare tumor 31.1 RET NF2
9 neuroma 31.0 RET NF2 NF1
10 plexiform schwannoma 31.0 NF2 NF1
11 acoustic neuroma 31.0 RDX NF2 NF1
12 plexiform neurofibroma 30.9 SPRED1 PDGFRA NFIC NF2 NF1 HRAS
13 neurofibroma 30.7 RASA2 PDGFRA NF2 NF1
14 legius syndrome 30.7 SPRED1 PTPN11 NF1
15 neurilemmomatosis 30.7 SPRED1 RASA1 NFIC NF2 NF1
16 sarcoma 30.6 SDHD SDHB RET PDGFRA NF2 KRAS
17 benign ependymoma 30.6 PDGFRA NF2 NF1
18 ampulla of vater neoplasm 30.6 KRAS HRAS
19 peripheral nerve schwannoma 30.6 SPRED1 NF2 NF1
20 nevus, epidermal 30.6 NF1 KRAS HRAS
21 neurofibrosarcoma 30.6 NFIC NF2 NF1
22 von hippel-lindau syndrome 30.6 VHL TMEM127 SDHD SDHB RET NF1
23 neural crest tumor 30.6 SDHD SDHB SDHAF2
24 cerebellopontine angle tumor 30.5 SDHD NF2
25 nervous system cancer 30.5 NF2 NF1 MIR29C CDKN2B-AS1
26 neurilemmoma of the fifth cranial nerve 30.5 NF2 NF1
27 spinal meningioma 30.4 NF2 NF1
28 paraganglioma 30.4 VHL TMEM127 SDHD SDHB SDHAF2 RET
29 carney triad 30.4 SDHD SDHB PDGFRA
30 thyroid carcinoma, familial medullary 30.4 VHL RET KRAS
31 leukemia, acute myeloid 30.4 PTPN11 PDGFRA NF1 KRAS HRAS CDKN2B-AS1
32 arteriovenous malformation 30.4 RASA1 KRAS HRAS
33 brain cancer 30.4 PTPN11 PDGFRA NF2 NF1 HRAS
34 specific learning disability 30.3 PTPN11 NF1
35 chronic myelomonocytic leukemia 30.3 PTPN11 PDGFRA NF1 KRAS
36 exanthem 30.3 RET KRAS HRAS
37 rasopathy 30.3 SPRED1 PTPN11 NF1 KRAS HRAS
38 neurilemmoma 30.3 RDX PDGFRA NF2 NF1
39 gastrointestinal stromal tumor 30.3 SDHD SDHB PDGFRA NF2 NF1 KRAS
40 amyloid tumor 30.2 NF2 NF1
41 pulmonic stenosis 30.2 PTPN11 NF1 KRAS HRAS
42 cellular schwannoma 30.2 NF2 NF1
43 pheochromocytoma 30.2 VHL TMEM127 SDHD SDHB SDHAF2 RET
44 rhabdomyosarcoma 30.2 PTPN11 PDGFRA MIR29C KRAS HRAS
45 costello syndrome 30.2 PTPN11 PDGFRA NF1 KRAS HRAS
46 meningioma, familial 30.2 SPRED1 RET RDX RASA1 NF2 NF1
47 peripheral nervous system neoplasm 30.2 NFIC NF2 NF1 HRAS
48 paragangliomas 1 30.2 SDHD SDHB RET
49 vulvar melanoma 30.2 RASA2 NF1 HRAS
50 multiple endocrine neoplasia, type i 30.2 VHL SDHD SDHB RET NF1

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

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

31
# Description HPO Frequency HPO Source Accession
1 lisch nodules 31 HP:0009737
2 atypical neurofibromatosis 31 HP:0007524

Symptoms via clinical synopsis from OMIM:

56
Skin:
atypical neurofibromatosis

Eyes:
iris lisch nodules usually absent

Clinical features from OMIM:

162270

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


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

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.79 KRAS PAK1 HRAS RDX
2 Decreased viability GR00106-A-0 10.79 KRAS
3 Decreased viability GR00173-A 10.79 PDGFRA
4 Decreased viability GR00221-A-1 10.79 KRAS RET VHL HRAS NF1 PDGFRA
5 Decreased viability GR00221-A-2 10.79 KRAS PAK1 RET VHL HRAS NF1
6 Decreased viability GR00221-A-3 10.79 HRAS PDGFRA RASA1
7 Decreased viability GR00221-A-4 10.79 RET NF1 PDGFRA RASA1 RASA2 SDHD
8 Decreased viability GR00231-A 10.79 RET
9 Decreased viability GR00301-A 10.79 KRAS PAK1 RET VHL
10 Decreased viability GR00381-A-1 10.79 KRAS RASA1 SDHD
11 Decreased viability GR00402-S-2 10.79 KRAS PAK1 RET VHL HRAS RDX
12 Decreased cell migration GR00055-A-1 9.73 HRAS KRAS NF1 NF2 PAK1 RDX
13 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 NF1 VHL
14 Increased cell migration GR00055-A-3 9.1 HRAS KRAS NF1 NF2 PAK1 RDX

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

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 HRAS KRAS NF1 NF2 NFIC PAK1
2 behavior/neurological MP:0005386 10.35 HRAS KRAS NF1 NF2 NFIC PDGFRA
3 homeostasis/metabolism MP:0005376 10.34 HRAS KRAS NF1 NF2 PAK1 PDGFRA
4 mortality/aging MP:0010768 10.32 HRAS KRAS NF1 NF2 NFIC PDGFRA
5 hematopoietic system MP:0005397 10.31 KRAS NF1 PAK1 PDGFRA PTPN11 RDX
6 cardiovascular system MP:0005385 10.3 HRAS KRAS NF1 PAK1 PDGFRA PTPN11
7 craniofacial MP:0005382 10.29 HRAS KRAS NF1 NF2 NFIC PDGFRA
8 embryo MP:0005380 10.27 KRAS NF1 NF2 PDGFRA PTPN11 RASA1
9 endocrine/exocrine gland MP:0005379 10.27 HRAS KRAS NF1 NF2 PDGFRA PTPN11
10 immune system MP:0005387 10.25 KRAS NF1 NF2 PAK1 PDGFRA PTPN11
11 nervous system MP:0003631 10.22 HRAS KRAS NF1 NF2 NFIC PAK1
12 digestive/alimentary MP:0005381 10.19 HRAS KRAS NF1 PDGFRA PTPN11 RASA1
13 neoplasm MP:0002006 10.13 HRAS KRAS NF1 NF2 PDGFRA PTPN11
14 limbs/digits/tail MP:0005371 10.1 KRAS NF1 PDGFRA PTPN11 RASA1 RET
15 muscle MP:0005369 10.06 KRAS NF1 PAK1 PDGFRA PTPN11 RASA1
16 hearing/vestibular/ear MP:0005377 10.02 KRAS NF1 NF2 PTPN11 RASA1 RDX
17 normal MP:0002873 10.02 HRAS KRAS NF1 PAK1 PDGFRA PTPN11
18 no phenotypic analysis MP:0003012 9.97 HRAS KRAS PDGFRA PTPN11 RASA1 RET
19 renal/urinary system MP:0005367 9.86 HRAS KRAS NF1 NF2 PDGFRA RET
20 reproductive system MP:0005389 9.81 KRAS NF1 NF2 NFIC PDGFRA PTPN11
21 respiratory system MP:0005388 9.61 HRAS KRAS NF1 NF2 PAK1 PDGFRA
22 skeleton MP:0005390 9.32 HRAS KRAS NF1 NF2 NFIC PAK1

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 188)
# 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
Phenoxybenzamine Approved Phase 4 59-96-1 4768
4
Doxazosin Approved Phase 4 74191-85-8 3157
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Trametinib Approved Phase 4 871700-17-3 11707110
9
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
10 Dopamine Uptake Inhibitors Phase 4
11 Dopamine Agents Phase 4
12 Antihypertensive Agents Phase 4
13 Adrenergic Antagonists Phase 4
14 Adrenergic alpha-Antagonists Phase 4
15 Vasodilator Agents Phase 4
16 Analgesics, Non-Narcotic Phase 4
17 Analgesics Phase 4
18 Central Nervous System Depressants Phase 4
19 Neurotransmitter Agents Phase 4
20 Adrenergic Agents Phase 4
21 Adrenergic Agonists Phase 4
22 Hypnotics and Sedatives Phase 4
23 Adrenergic alpha-2 Receptor Agonists Phase 4
24 Anesthetics Phase 4
25 Anesthetics, General Phase 4
26 Anesthetics, Intravenous Phase 4
27
Glycopyrrolate Phase 4 596-51-0 3494
28
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
29
Thioguanine Approved Phase 3 154-42-7 2723601
30
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
31
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
32
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
33
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
34
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
35 Antimetabolites Phase 3
36 Alkylating Agents Phase 3
37 Antipsychotic Agents Phase 2, Phase 3
38 Tranquilizing Agents Phase 2, Phase 3
39 Chlorhexidine gluconate Phase 2, Phase 3
40 Psychotropic Drugs Phase 2, Phase 3
41 Anticonvulsants Phase 2, Phase 3
42 Calcium, Dietary Phase 2, Phase 3
43 calcium channel blockers Phase 2, Phase 3
44 Sodium Channel Blockers Phase 2, Phase 3
45 Diuretics, Potassium Sparing Phase 2, Phase 3
46 Hormones Phase 2, Phase 3
47 Antimitotic Agents Phase 3
48 Protein Kinase Inhibitors Phase 2, Phase 3
49 Imatinib Mesylate Phase 2, Phase 3 220127-57-1 123596
50
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662

Interventional clinical trials:

(show top 50) (show all 200)
# 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 Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
4 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
5 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
6 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
7 Chemotherapy for Progressive Low Grade Astrocytoma in Children Less Than Ten Years Old Completed NCT00002944 Phase 3 carboplatin;lomustine;procarbazine hydrochloride;thioguanine;vincristine sulfate
8 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
9 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
10 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
11 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
12 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
13 An Open-label Multicenter Phase II Study of Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
14 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
15 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)
16 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
17 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
18 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
19 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
20 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
21 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
22 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
23 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
24 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
25 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
26 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
27 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
28 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
29 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
30 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
31 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
32 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
33 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
34 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
35 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
36 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
37 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
38 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
39 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
40 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
41 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
42 Phase II Trial of Cetuximab in Patients With Metastatic and/or Locally Advanced Soft Tissue and Bony Sarcomas Completed NCT00148109 Phase 2 Cetuximab;Cetuximab
43 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
44 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
45 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
46 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
47 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
48 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
49 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
50 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

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:

40
Bone, Brain, Skin, Breast, Spinal Cord, Lung, Thyroid

Publications for Neurofibromatosis, Type Iv, of Riccardi

Articles related to Neurofibromatosis, Type Iv, of Riccardi:

(show top 50) (show all 13879)
# Title Authors PMID Year
1
Neurofibromatosis: clinical heterogeneity. 61 56
6816509 1982
2
The Diagnosis and Management of Neurofibromatosis Type 1. 61 42
31582003 2019
3
Unusual form of the distal bone defect of ulna with neurofibromatosis type 1: A case report. 61 42
31577713 2019
4
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience. 61 42
31443616 2019
5
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 54 61
20305538 2010
6
Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia. 54 61
19798502 2010
7
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. 54 61
20008299 2010
8
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. 54 61
19573811 2009
9
[Neurofibromatosis type 1: more frequent and severe then usually thought]. 54 61
19750304 2009
10
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 54 61
19366998 2009
11
A synaptic trek to autism. 54 61
19545994 2009
12
[Gastrointestinal stromal tumors in neurofibromatosis type 1]. 54 61
19144598 2009
13
Nf2/Merlin: a coordinator of receptor signalling and intercellular contact. 54 61
17971776 2008
14
Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. 54 61
18063929 2007
15
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. 54 61
17353900 2007
16
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 54 61
17514588 2007
17
[Diagnostic and therapeutic procedures in pheochromocytoma: current trends]. 54 61
17578179 2007
18
Signal therapy of human pancreatic cancer and NF1-deficient breast cancer xenograft in mice by a combination of PP1 and GL-2003, anti-PAK1 drugs (Tyr-kinase inhibitors). 54 61
16540233 2007
19
Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. 54 61
17215387 2007
20
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 54 61
17087943 2006
21
The fat cadherin acts through the hippo tumor-suppressor pathway to regulate tissue size. 54 61
16996265 2006
22
Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. 54 61
17053831 2006
23
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 54 61
17102069 2006
24
Contiguous conventional and plexiform schwannomas. Report of two cases. 54 61
16509508 2006
25
Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors. 54 61
16207184 2005
26
Meningioangiomatosis without neurofibromatosis: a clinical analysis. 54 61
16270683 2005
27
The Phosphorylation status of merlin is important for regulating the Ras-ERK pathway. 54 61
16267393 2005
28
Signal therapy of breast cancers by the HDAC inhibitor FK228 that blocks the activation of PAK1 and abrogates the tamoxifen-resistance. 54 61
16082189 2005
29
[Neurofibromatosis type 1 or Von Recklinghausen's disease]. 54 61
15777582 2005
30
Familial segmental neurofibromatosis. 54 61
15224714 2004
31
Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature. 54 61
14692188 2003
32
Pheochromocytoma: the expanding genetic differential diagnosis. 54 61
12928344 2003
33
Independent NF1 mutations in two large families with spinal neurofibromatosis. 54 61
12566521 2003
34
Screening for genetic causes of hypertension. 54 61
12419172 2002
35
Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation. 54 61
12356905 2002
36
Gene-targeted deletion of neurofibromin enhances the expression of a transient outward K+ current in Schwann cells: a protein kinase A-mediated mechanism. 54 61
12417644 2002
37
The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis. 54 61
12191989 2002
38
Inhibition of ras-mediated activator protein 1 activity and cell growth by merlin. 54 61
12243339 2002
39
Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. 54 61
12199909 2002
40
Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. 54 61
11904334 2002
41
Meningioangiomatosis occurring in a young male without neurofibromatosis: with special reference to its histogenesis and loss of heterozygosity in the NF2 gene region. 54 61
11756780 2002
42
Expanding the role of NHERF, a PDZ-domain containing protein adapter, to growth regulation. 54 61
11607833 2001
43
Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). 54 61
11391665 2001
44
Establishing priorities in neurofibromatosis research: a workshop summary. 54 61
11388764 2001
45
The neurofibromatoses: when less is more. 54 61
11257108 2001
46
Tumorigenesis in neurofibromatosis: new insights and potential therapies. 54 61
11286939 2001
47
[A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension]. 54 61
11129996 2000
48
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. 54 61
10980545 2000
49
Current topics in pheochromocytoma. 54 61
10915008 2000
50
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. 54 61
10843809 2000

Variations for Neurofibromatosis, Type Iv, of Riccardi

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

7 (show all 26)
# CNVD ID Chromosome 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 duplication Neurofibromatosis
4 108858 17 23200000 28800000 Deletion or duplication NF1 Neurofibromatosis
5 109393 17 25800000 31800000 Deletion Neurofibromatosis
6 109530 17 26611486 26611711 Deletion Neurofibromatosis
7 109531 17 26612781 26613078 Deletion Neurofibromatosis
8 109532 17 26614112 26614421 Deletion Neurofibromatosis
9 109533 17 26616287 26616583 Deletion Neurofibromatosis
10 109534 17 26642254 28641850 Deletion Neurofibromatosis
11 109539 17 26646606 26646625 Deletion Neurofibromatosis
12 109540 17 26647173 26647192 Deletion Neurofibromatosis
13 109546 17 26673150 26673305 Deletion Neurofibromatosis
14 109547 17 26676955 26677471 Deletion Neurofibromatosis
15 109549 17 26678618 26679028 Deletion Neurofibromatosis
16 109552 17 2668540 26668420 Deletion Neurofibromatosis
17 109553 17 26692292 26692904 Deletion Neurofibromatosis
18 109555 17 26709590 26709800 Deletion Neurofibromatosis
19 109556 17 26711564 26711914 Deletion Neurofibromatosis
20 109557 17 26724945 26725307 Deletion Neurofibromatosis
21 109673 17 28103575 28103640 Deletion SSH2 Neurofibromatosis
22 109703 17 28313925 28314303 Deletion Neurofibromatosis
23 109798 17 29426218 29488638 Deletion Neurofibromatosis
24 109938 17 30596008 30612536 Deletion RHBDL3 Neurofibromatosis
25 110553 17 33218164 33218223 Deletion Neurofibromatosis
26 110831 17 34451207 34819827 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 GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 VHL SPRED1 RET RASA2 RASA1 PTPN11
2
Show member pathways
13.33 SPRED1 RET RASA2 RASA1 PTPN11 PDGFRA
3
Show member pathways
13.21 SPRED1 RET RDX RASA2 RASA1 PTPN11
4
Show member pathways
12.85 RET PTPN11 PDGFRA KRAS HRAS
5 12.82 VHL RET PDGFRA KRAS HRAS
6
Show member pathways
12.71 RASA1 PTPN11 PAK1 KRAS HRAS
7 12.69 RASA2 RASA1 PDGFRA PAK1 NF1 KRAS
8 12.62 RDX PDGFRA PAK1 KRAS HRAS
9
Show member pathways
12.57 RASA1 PTPN11 PDGFRA PAK1 KRAS HRAS
10 12.53 RDX PDGFRA MIR29C KRAS HRAS
11
Show member pathways
12.49 RASA1 PAK1 KRAS HRAS
12
Show member pathways
12.46 PTPN11 PAK1 KRAS HRAS
13
Show member pathways
12.42 VHL PTPN11 PDGFRA PAK1 NF1 KRAS
14
Show member pathways
12.41 RASA1 PTPN11 PAK1 KRAS HRAS
15
Show member pathways
12.39 RASA1 PTPN11 KRAS HRAS
16
Show member pathways
12.38 PTPN11 PDGFRA KRAS HRAS
17
Show member pathways
12.38 RASA1 PDGFRA PAK1 KRAS HRAS
18 12.32 RDX PTPN11 PAK1 KRAS HRAS
19
Show member pathways
12.32 RASA1 PTPN11 PAK1 NF1 KRAS HRAS
20
Show member pathways
12.31 RASA2 RASA1 NF1 KRAS HRAS
21
Show member pathways
12.26 SPRED1 PTPN11 KRAS HRAS
22 12.25 RASA1 PTPN11 PAK1 KRAS HRAS
23
Show member pathways
12.2 PTPN11 PAK1 KRAS HRAS
24
Show member pathways
12.2 RASA2 RASA1 PTPN11 PDGFRA PAK1 NF1
25
Show member pathways
12.17 RET RASA1 PAK1 KRAS HRAS
26 12.15 RASA1 PTPN11 PAK1 KRAS HRAS
27
Show member pathways
12.06 RASA2 RASA1 NF1 KRAS HRAS
28
Show member pathways
12.02 SPRED1 RASA1 PTPN11 KRAS HRAS
29 11.98 PTPN11 NF1 KRAS HRAS
30
Show member pathways
11.87 RASA1 PTPN11 HRAS
31 11.85 PDGFRA NF2 NF1 KRAS HRAS
32 11.82 PDGFRA KRAS HRAS
33
Show member pathways
11.81 RASA1 PTPN11 PDGFRA PAK1 KRAS HRAS
34
Show member pathways
11.79 RET KRAS HRAS
35
Show member pathways
11.73 VHL RASA1 PTPN11 PAK1 HRAS
36 11.72 RET PDGFRA KRAS HRAS
37
Show member pathways
11.64 RASA1 PTPN11 PAK1
38 11.6 PAK1 KRAS HRAS
39 11.58 RASA1 PTPN11 HRAS
40
Show member pathways
11.54 RASA2 RASA1 NF1
41 11.54 RASA2 RASA1 PAK1 NF1
42 11.49 RET NF1 KRAS HRAS
43 11.48 PTPN11 PAK1 HRAS
44 11.46 PDGFRA KRAS HRAS
45 11.46 RASA1 PTPN11 HRAS
46 11.33 RASA1 NF1 HRAS
47 11.31 RET RASA1 PTPN11 HRAS
48
Show member pathways
11.21 SPRED1 RASA2 RASA1 NF1 KRAS HRAS
49 11.2 RASA1 PTPN11 PAK1
50 11.14 PAK1 KRAS HRAS

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 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.96 SDHD SDHB
2 ruffle GO:0001726 8.92 RDX RASA1 PAK1 NF2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.95 RET RDX KRAS HRAS CDKN2B-AS1
2 negative regulation of gene expression GO:0010629 9.9 VHL MIR29C HRAS CDKN2B-AS1
3 negative regulation of cell proliferation GO:0008285 9.88 VHL TMEM127 NF2 NF1 MIR29C HRAS
4 wound healing GO:0042060 9.78 PDGFRA PAK1 NF1
5 negative regulation of protein kinase activity GO:0006469 9.74 SPRED1 NF2 NF1
6 Ras protein signal transduction GO:0007265 9.73 NF1 KRAS HRAS
7 odontogenesis of dentin-containing tooth GO:0042475 9.71 PDGFRA NFIC NF2
8 tricarboxylic acid cycle GO:0006099 9.67 SDHD SDHB SDHAF2
9 regulation of GTPase activity GO:0043087 9.67 RDX RASA2 RASA1 NF1
10 negative regulation of MAPK cascade GO:0043409 9.65 SPRED1 NF2 NF1
11 negative regulation of Ras protein signal transduction GO:0046580 9.63 RASA2 RASA1 NF1
12 positive regulation of cell migration GO:0030335 9.63 RET RDX PDGFRA PAK1 HRAS CDKN2B-AS1
13 regulation of synaptic transmission, GABAergic GO:0032228 9.59 NF1 KRAS
14 positive regulation of phospholipase C activity GO:0010863 9.58 PDGFRA HRAS
15 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.58 RET NF1
16 ephrin receptor signaling pathway GO:0048013 9.56 RASA1 PTPN11 PAK1 HRAS
17 response to isolation stress GO:0035900 9.52 KRAS HRAS
18 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.51 SDHD SDHAF2
19 regulation of long-term neuronal synaptic plasticity GO:0048169 9.5 NF1 KRAS HRAS
20 forebrain astrocyte development GO:0021897 9.43 NF1 KRAS
21 MAPK cascade GO:0000165 9.28 SPRED1 RET RASA2 RASA1 PDGFRA PAK1
22 negative regulation of cell-matrix adhesion GO:0001953 9.26 RASA1 NF2 NF1 MIR29C

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 8.96 SDHD SDHB
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 SDHD SDHB

Sources for Neurofibromatosis, Type Iv, of Riccardi

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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