NF4
MCID: NRF026
MIFTS: 65

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 57 75
Neurofibromatosis 12 75 53 54 55 43 15 40 17 33
Neurofibromatosis, Type 4, of Riccardi 44 72
Neurofibromatosis 1 44 72
Neurofibromatoses 44 72
Type Iv Neurofibromatosis of Riccardi 12
Neurofibromatosis, Variant Form of 57
Recklinghausen's Neurofibromatosis 12
Peripheral Neurofibromatosis 12
Neurofibromatosis, Atypical 57
Acoustic Neurofibromatosis 12
Atypical Neurofibromatosis 29
Central Neurofibromatosis 12
Neurofibromatosis Type Iv 12
Von Reklinghausen Disease 12
Familial Acoustic Neuroma 72
Neurofibromatosis Type 4 12
Neurofibromatosis Type 1 15
Neurofibromatosis 2 72
Nf Iv 57
Nf4 57

Characteristics:

OMIM:

57
Inheritance:
heterogeneous
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:8712
OMIM 57 162270
MedGen 42 C0220695
UMLS 72 C0027831 C0027832 C0162678 more

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 leopard syndrome, 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 ERK Signaling 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 : 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

Wikipedia : 75 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 1368)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, familial spinal 35.0 NF2 NF1
2 leopard syndrome 32.5 PTPN11 NF1 HRAS
3 hereditary paraganglioma-pheochromocytoma syndromes 32.2 SDHD SDHB RET
4 neurofibromatosis, type ii 31.9 RDX NF2 NF1 MSN EZR
5 neurofibromatosis, type i 31.2 RASA2 RASA1 PDGFRA NF1 KIT CDKN2B-AS1
6 multiple endocrine neoplasia 30.9 SDHB RET NF1
7 plexiform neurofibroma 30.9 SPRED1 NF2 NF1 CDKN2B-AS1
8 neural crest tumor 30.6 SDHD SDHB
9 neurilemmomatosis 30.6 SPRED1 NF2 NF1
10 pheochromocytoma 30.5 SDHD SDHB RET NF1
11 nervous system cancer 30.5 NF2 NF1 CDKN2B-AS1
12 paraganglioma 30.5 SDHD SDHB RET NF1
13 von hippel-lindau syndrome 30.5 SDHD SDHB RET NF1
14 legius syndrome 30.2 SPRED1 PTPN11 NF1
15 extra-adrenal pheochromocytoma 30.2 SDHD SDHB
16 multiple endocrine neoplasia, type i 30.2 SDHD SDHB RET
17 plexiform schwannoma 30.0 NF2 NF1 KIT
18 neurofibromatosis-noonan syndrome 30.0 PTPN11 NF1
19 spinal cord ependymoma 30.0 NF2 EPB41
20 malignant peripheral nerve sheath tumor 30.0 PDGFRA NF2 NF1 KIT
21 paragangliomas 1 29.9 SDHD SDHB RET
22 multiple endocrine neoplasia, type iia 29.9 SDHD SDHB RET NF1
23 costello syndrome 29.8 PTPN11 KRAS HRAS
24 meningioma, familial 29.8 NF2 NF1 EPB41
25 brain cancer 29.7 PTPN11 PDGFRA NF2 NF1 HRAS
26 schimmelpenning-feuerstein-mims syndrome 29.7 KRAS HRAS
27 neurofibroma 29.6 PDGFRA NF2 NF1 KIT
28 pulmonic stenosis 29.5 PTPN11 NF1 KRAS HRAS
29 reticular perineurioma 29.3 PDGFRA KIT
30 endocrine gland cancer 29.3 RET KRAS HRAS
31 pathologic nystagmus 29.2 RDX MSN EZR
32 chronic myelomonocytic leukemia 29.2 PTPN11 NF1 KIT
33 sporadic pheochromocytoma 29.2 SDHD SDHB RET NF1 HRAS
34 carney triad 29.1 SDHD SDHB PDGFRA KIT
35 noonan syndrome 1 29.0 RASA2 PTPN11 NF1 KRAS HRAS
36 vulvar melanoma 29.0 NF1 KIT HRAS
37 juvenile myelomonocytic leukemia 29.0 SPRED1 PTPN11 PDGFRA NF1 KRAS
38 gastrointestinal system cancer 29.0 PDGFRA KRAS KIT HRAS
39 meningioma, radiation-induced 29.0 RDX NF2 MSN EZR
40 myeloproliferative neoplasm 28.9 PTPN11 PDGFRA KIT
41 undifferentiated pleomorphic sarcoma 28.8 PDGFRA KRAS KIT EZR
42 desmoid tumor 28.8 PDGFRA KIT
43 leukemia, chronic myeloid 28.8 RASA1 PDGFRA KIT HRAS
44 myeloma, multiple 28.8 PTPN11 KRAS KIT HRAS
45 leukemia, acute myeloid 28.7 PTPN11 KRAS KIT HRAS CDKN2B-AS1
46 carcinosarcoma 28.7 KRAS KIT HRAS
47 adenocarcinoma 28.7 RET KRAS KIT HRAS
48 myelodysplastic syndrome 28.7 PTPN11 NF1 KRAS KIT HRAS
49 gastrointestinal stromal tumor 28.5 SDHD SDHB PDGFRA NF1 KRAS KIT
50 neurilemmoma 27.6 PDGFRA NF2 NF1 MSN KIT EZR

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:

32
# Description HPO Frequency HPO Source Accession
1 lisch nodules 32 HP:0009737
2 atypical neurofibromatosis 32 HP:0007524

Symptoms via clinical synopsis from OMIM:

57
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 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.67 HRAS KRAS
2 Decreased viability GR00106-A-0 10.67 KRAS
3 Decreased viability GR00173-A 10.67 PDGFRA
4 Decreased viability GR00221-A-1 10.67 HRAS PDGFRA KRAS NF1 RET SDHD
5 Decreased viability GR00221-A-2 10.67 HRAS KRAS NF1 RET SDHD
6 Decreased viability GR00221-A-3 10.67 HRAS NF2 PDGFRA RASA1
7 Decreased viability GR00221-A-4 10.67 PDGFRA RASA1 NF1 RET SDHD RASA2
8 Decreased viability GR00231-A 10.67 RET
9 Decreased viability GR00301-A 10.67 KRAS RET KIT
10 Decreased viability GR00381-A-1 10.67 RASA1 KRAS SDHD
11 Decreased viability GR00402-S-2 10.67 HRAS NF2 PDGFRA RASA1 KRAS NF1
12 Decreased cell migration GR00055-A-1 9.55 HRAS KRAS NF1 NF2 RDX
13 Increased cell migration GR00055-A-3 9.02 HRAS KRAS NF1 NF2 RDX

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

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 HRAS KIT KRAS NF1 NF2 PDGFRA
2 growth/size/body region MP:0005378 10.35 EZR HRAS KIT KRAS NF1 NF2
3 mortality/aging MP:0010768 10.32 EPB41 EZR HRAS KIT KRAS NF1
4 homeostasis/metabolism MP:0005376 10.31 EPB41 HRAS KIT KRAS NF1 NF2
5 hematopoietic system MP:0005397 10.29 EPB41 EZR KIT KRAS NF1 PDGFRA
6 endocrine/exocrine gland MP:0005379 10.27 HRAS KIT KRAS NF1 NF2 PDGFRA
7 cardiovascular system MP:0005385 10.26 HRAS KIT KRAS NF1 PDGFRA PTPN11
8 immune system MP:0005387 10.26 EPB41 EZR KIT KRAS NF1 NF2
9 craniofacial MP:0005382 10.25 HRAS KIT KRAS NF1 NF2 PDGFRA
10 digestive/alimentary MP:0005381 10.24 EZR HRAS KIT KRAS NF1 PDGFRA
11 embryo MP:0005380 10.24 KIT KRAS NF1 NF2 PDGFRA PTPN11
12 nervous system MP:0003631 10.18 HRAS KIT KRAS NF1 NF2 PDGFRA
13 neoplasm MP:0002006 10.13 HRAS KIT KRAS NF1 NF2 PDGFRA
14 limbs/digits/tail MP:0005371 10.11 KIT KRAS NF1 PDGFRA PTPN11 RASA1
15 hearing/vestibular/ear MP:0005377 10.1 KIT KRAS NF1 NF2 PTPN11 RASA1
16 liver/biliary system MP:0005370 10.04 EPB41 KIT KRAS NF1 NF2 PTPN11
17 normal MP:0002873 10.02 HRAS KIT KRAS MSN NF1 PDGFRA
18 muscle MP:0005369 10 KIT KRAS NF1 PDGFRA PTPN11 RASA1
19 no phenotypic analysis MP:0003012 9.97 HRAS KIT KRAS PDGFRA PTPN11 RASA1
20 renal/urinary system MP:0005367 9.81 EPB41 HRAS KIT KRAS NF1 NF2
21 pigmentation MP:0001186 9.65 KIT KRAS NF1 PDGFRA PTPN11
22 respiratory system MP:0005388 9.61 HRAS KIT KRAS NF1 NF2 PDGFRA
23 skeleton MP:0005390 9.23 HRAS KIT KRAS NF1 NF2 PDGFRA

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 193)
# 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 Neurotransmitter Uptake Inhibitors Phase 4
11 Dopamine Uptake Inhibitors Phase 4
12 Dopamine Agents Phase 4
13 Antihypertensive Agents Phase 4
14 Adrenergic alpha-1 Receptor Antagonists Phase 4
15 Adrenergic alpha-Antagonists Phase 4
16 Adrenergic Antagonists Phase 4
17 Vasodilator Agents Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Peripheral Nervous System Agents Phase 4
20 Analgesics Phase 4
21 Central Nervous System Depressants Phase 4
22 Neurotransmitter Agents Phase 4
23
Glycopyrrolate Phase 4 596-51-0 3494
24 Adrenergic alpha-2 Receptor Agonists Phase 4
25 Adrenergic Agonists Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Hypnotics and Sedatives Phase 4
28 Adrenergic Agents Phase 4
29 Anesthetics Phase 4
30 Anesthetics, General Phase 4
31 Anesthetics, Intravenous Phase 4
32
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
33
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
34
Thioguanine Approved Phase 3 154-42-7 2723601
35
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
36
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
37
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
38
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
39 Antimetabolites Phase 3
40 Antimetabolites, Antineoplastic Phase 3
41 Alkylating Agents Phase 3
42 Antineoplastic Agents, Alkylating Phase 3
43 Hormones Phase 2, Phase 3
44 Tranquilizing Agents Phase 2, Phase 3
45 Chlorhexidine gluconate Phase 2, Phase 3
46 Diuretics, Potassium Sparing Phase 2, Phase 3
47 Sodium Channel Blockers Phase 2, Phase 3
48 Antipsychotic Agents Phase 2, Phase 3
49 Psychotropic Drugs Phase 2, Phase 3
50 Anticonvulsants Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 196)
# 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 III Study Comparing Two Carboplatin Containing Regimens for Children and Young Adults With Previously Untreated Low Grade Glioma Recruiting NCT02455245 Phase 3 Carboplatin;Vincristine
11 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) Not yet recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
12 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
13 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
14 Medical Treatment of "High-Risk" Neurofibromas 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)
15 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
16 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
17 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
18 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
19 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
20 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
21 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
22 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
23 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
24 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
25 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
26 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
27 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
28 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
29 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
30 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
31 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
32 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
33 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
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 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
36 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
37 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
38 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
39 Phase II Trial of Cetuximab in Patients With Metastatic and/or Locally Advanced Soft Tissue and Bony Sarcomas Completed NCT00148109 Phase 2 Cetuximab;Cetuximab
40 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
41 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
42 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2
43 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
44 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet
45 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
46 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
47 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
48 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
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 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

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
Bone, Brain, Skin, Spinal Cord, Breast, Testes, Lung

Publications for Neurofibromatosis, Type Iv, of Riccardi

Articles related to Neurofibromatosis, Type Iv, of Riccardi:

(show top 50) (show all 13636)
# Title Authors PMID Year
1
Neurofibromatosis: clinical heterogeneity. 38 8
6816509 1982
2
Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report. 38 17
31374061 2019
3
Multiple Cerebral Aneurysms Associated With Neurofibromatosis Type 1. 38 17
31080139 2019
4
Spontaneous rotational dislocation of the lumbar spine in type 1 neurofibromatosis: A case report and literature review. 38 17
31008966 2019
5
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 9 38
20305538 2010
6
Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia. 9 38
19798502 2010
7
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. 9 38
20008299 2010
8
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. 9 38
19573811 2009
9
[Neurofibromatosis type 1: more frequent and severe then usually thought]. 9 38
19750304 2009
10
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 9 38
19366998 2009
11
A synaptic trek to autism. 9 38
19545994 2009
12
[Gastrointestinal stromal tumors in neurofibromatosis type 1]. 9 38
19144598 2009
13
Nf2/Merlin: a coordinator of receptor signalling and intercellular contact. 9 38
17971776 2008
14
Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. 9 38
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. 9 38
17353900 2007
16
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 9 38
17514588 2007
17
[Diagnostic and therapeutic procedures in pheochromocytoma: current trends]. 9 38
17578179 2007
18
Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. 9 38
17215387 2007
19
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). 9 38
16540233 2007
20
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 9 38
17087943 2006
21
Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. 9 38
17053831 2006
22
The fat cadherin acts through the hippo tumor-suppressor pathway to regulate tissue size. 9 38
16996265 2006
23
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 9 38
17102069 2006
24
Contiguous conventional and plexiform schwannomas. Report of two cases. 9 38
16509508 2006
25
Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors. 9 38
16207184 2005
26
The Phosphorylation status of merlin is important for regulating the Ras-ERK pathway. 9 38
16267393 2005
27
Meningioangiomatosis without neurofibromatosis: a clinical analysis. 9 38
16270683 2005
28
Signal therapy of breast cancers by the HDAC inhibitor FK228 that blocks the activation of PAK1 and abrogates the tamoxifen-resistance. 9 38
16082189 2005
29
[Neurofibromatosis type 1 or Von Recklinghausen's disease]. 9 38
15777582 2005
30
Familial segmental neurofibromatosis. 9 38
15224714 2004
31
Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature. 9 38
14692188 2003
32
Pheochromocytoma: the expanding genetic differential diagnosis. 9 38
12928344 2003
33
Independent NF1 mutations in two large families with spinal neurofibromatosis. 9 38
12566521 2003
34
Screening for genetic causes of hypertension. 9 38
12419172 2002
35
Gene-targeted deletion of neurofibromin enhances the expression of a transient outward K+ current in Schwann cells: a protein kinase A-mediated mechanism. 9 38
12417644 2002
36
Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation. 9 38
12356905 2002
37
The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis. 9 38
12191989 2002
38
Inhibition of ras-mediated activator protein 1 activity and cell growth by merlin. 9 38
12243339 2002
39
Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. 9 38
12199909 2002
40
Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. 9 38
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. 9 38
11756780 2002
42
Expanding the role of NHERF, a PDZ-domain containing protein adapter, to growth regulation. 9 38
11607833 2001
43
Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). 9 38
11391665 2001
44
Establishing priorities in neurofibromatosis research: a workshop summary. 9 38
11388764 2001
45
Tumorigenesis in neurofibromatosis: new insights and potential therapies. 9 38
11286939 2001
46
The neurofibromatoses: when less is more. 9 38
11257108 2001
47
[A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension]. 9 38
11129996 2000
48
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. 9 38
10980545 2000
49
Current topics in pheochromocytoma. 9 38
10915008 2000
50
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. 9 38
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 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 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 58)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 RDX RASA1 PDGFRA NF1 MSN KRAS
2
Show member pathways
13.18 SPRED1 RET RASA2 RASA1 PTPN11 PDGFRA
3
Show member pathways
12.98 RDX PDGFRA MSN KIT HRAS EZR
4 12.82 RET PDGFRA KRAS KIT HRAS
5
Show member pathways
12.82 RET PTPN11 PDGFRA KRAS KIT HRAS
6
Show member pathways
12.72 PTPN11 PDGFRA KRAS KIT HRAS
7 12.69 RASA2 RASA1 PDGFRA NF1 KRAS KIT
8
Show member pathways
12.65 SPRED1 RET RDX RASA2 RASA1 PTPN11
9 12.59 RDX PDGFRA MSN KRAS HRAS EZR
10
Show member pathways
12.55 RASA1 PTPN11 PDGFRA KRAS HRAS
11 12.51 RDX NF2 MSN EZR
12 12.49 RDX PDGFRA KRAS HRAS EZR
13
Show member pathways
12.42 RASA1 PTPN11 KRAS HRAS
14
Show member pathways
12.4 RASA2 RASA1 PTPN11 PDGFRA NF1 KRAS
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 KRAS KIT HRAS
18
Show member pathways
12.37 PTPN11 PDGFRA KRAS KIT HRAS
19
Show member pathways
12.36 RASA1 PTPN11 NF1 KRAS HRAS
20
Show member pathways
12.32 PTPN11 KRAS HRAS EZR
21
Show member pathways
12.27 SPRED1 PTPN11 KRAS HRAS
22
Show member pathways
12.26 RASA2 RASA1 NF1 KRAS HRAS
23 12.22 RASA1 PTPN11 KRAS HRAS
24 12.19 RDX NF2 MSN EZR
25
Show member pathways
12.19 RDX RASA2 MSN KRAS HRAS EZR
26 12.19 RDX PTPN11 MSN KRAS HRAS EZR
27
Show member pathways
12.18 RET RASA1 KRAS HRAS
28 12.17 RASA1 PTPN11 KRAS HRAS
29
Show member pathways
12.16 SPRED1 PTPN11 KIT HRAS
30
Show member pathways
12.11 RASA1 PTPN11 PDGFRA KRAS HRAS
31 12.1 SPRED1 RET PDGFRA KIT
32
Show member pathways
12.04 RASA2 RASA1 NF1 KRAS HRAS
33
Show member pathways
12.02 SPRED1 RASA1 PTPN11 KRAS HRAS
34 11.95 PTPN11 NF1 KRAS HRAS
35
Show member pathways
11.88 RASA1 PTPN11 HRAS
36 11.88 PDGFRA NF2 NF1 KRAS HRAS
37
Show member pathways
11.85 RASA1 PTPN11 HRAS
38
Show member pathways
11.85 SPRED1 RASA2 RASA1 NF1 KRAS HRAS
39 11.83 PDGFRA KRAS HRAS
40
Show member pathways
11.79 RET KRAS KIT HRAS
41
Show member pathways
11.76 RDX MSN EZR
42 11.71 PDGFRA KRAS HRAS EZR
43
Show member pathways
11.62 RASA2 RASA1 NF1
44 11.58 RASA1 PTPN11 HRAS
45 11.56 RET PDGFRA KRAS KIT HRAS
46 11.52 RASA2 RASA1 NF1
47 11.52 RDX MSN HRAS EZR
48 11.51 RET NF1 KRAS HRAS
49 11.46 RASA1 PTPN11 HRAS
50 11.45 PDGFRA 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 9.63 RDX MSN EZR
2 ruffle GO:0001726 9.56 RDX RASA1 NF2 EZR
3 uropod GO:0001931 9.51 MSN EZR
4 invadopodium GO:0071437 9.49 MSN EZR
5 apical part of cell GO:0045177 9.46 RDX NF2 MSN EZR
6 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.43 SDHD SDHB
7 cell tip GO:0051286 9.37 RDX EZR
8 filopodium GO:0030175 9.26 RDX NF2 MSN EZR
9 microvillus GO:0005902 8.92 RDX PDGFRA MSN EZR
10 membrane GO:0016020 10.37 SPRED1 SDHD SDHB RET RDX PDGFRA
11 cytosol GO:0005829 10.22 SPRED1 RET RASA2 RASA1 PTPN11 NF2
12 cytoplasm GO:0005737 10.22 RDX RASA2 RASA1 PTPN11 PDGFRA NF2
13 plasma membrane GO:0005886 10.13 SPRED1 SDHB RET RDX RASA1 PDGFRA

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.91 RET PTPN11 PDGFRA KIT
2 actin cytoskeleton organization GO:0030036 9.89 NF2 NF1 KRAS EPB41
3 positive regulation of MAPK cascade GO:0043410 9.88 RET PDGFRA KIT HRAS
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.84 RET PDGFRA KIT
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 PTPN11 PDGFRA KIT HRAS
6 negative regulation of protein kinase activity GO:0006469 9.82 SPRED1 NF2 NF1
7 ephrin receptor signaling pathway GO:0048013 9.81 RASA1 PTPN11 HRAS
8 Ras protein signal transduction GO:0007265 9.8 NF1 KRAS HRAS
9 positive regulation of MAP kinase activity GO:0043406 9.8 KRAS KIT HRAS
10 regulation of GTPase activity GO:0043087 9.8 RDX RASA2 RASA1 NF1
11 positive regulation of cell migration GO:0030335 9.8 RET RDX PDGFRA KIT HRAS CDKN2B-AS1
12 visual learning GO:0008542 9.77 NF1 KRAS KIT
13 negative regulation of MAPK cascade GO:0043409 9.75 SPRED1 NF2 NF1
14 negative regulation of Ras protein signal transduction GO:0046580 9.73 RASA2 RASA1 NF1
15 regulation of cell size GO:0008361 9.72 RDX MSN EZR
16 regulation of long-term neuronal synaptic plasticity GO:0048169 9.7 NF1 KRAS HRAS
17 negative regulation of cell-matrix adhesion GO:0001953 9.69 RASA1 NF2 NF1
18 microvillus assembly GO:0030033 9.67 RDX EZR
19 establishment of epithelial cell apical/basal polarity GO:0045198 9.67 MSN EZR
20 megakaryocyte development GO:0035855 9.67 PTPN11 KIT
21 regulation of synaptic transmission, GABAergic GO:0032228 9.66 NF1 KRAS
22 cellular response to thyroid hormone stimulus GO:0097067 9.65 RDX KIT
23 protein kinase A signaling GO:0010737 9.65 RDX EZR
24 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.65 RET NF1
25 establishment of endothelial barrier GO:0061028 9.65 RDX MSN EZR
26 gland morphogenesis GO:0022612 9.63 MSN EZR
27 positive regulation of phospholipase C activity GO:0010863 9.63 PDGFRA KIT HRAS
28 regulation of cell shape GO:0008360 9.63 RDX RASA1 MSN KIT EZR EPB41
29 response to isolation stress GO:0035900 9.62 KRAS HRAS
30 membrane to membrane docking GO:0022614 9.61 MSN EZR
31 positive regulation of cellular protein catabolic process GO:1903364 9.61 RDX MSN EZR
32 positive regulation of early endosome to late endosome transport GO:2000643 9.58 RDX MSN EZR
33 forebrain astrocyte development GO:0021897 9.57 NF1 KRAS
34 positive regulation of gene expression GO:0010628 9.56 RET RDX MSN KRAS KIT HRAS
35 positive regulation of protein localization to early endosome GO:1902966 9.54 RDX MSN EZR
36 regulation of organelle assembly GO:1902115 9.43 RDX MSN EZR
37 MAPK cascade GO:0000165 9.28 SPRED1 RET RASA2 RASA1 PDGFRA NF1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.72 RET PDGFRA KRAS KIT HRAS
2 cell adhesion molecule binding GO:0050839 9.58 PTPN11 MSN EZR
3 ubiquinone binding GO:0048039 9.43 SDHD SDHB
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 RET PDGFRA KIT
5 actin binding GO:0003779 9.35 RDX NF2 MSN EZR EPB41
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHD SDHB
7 cytoskeletal protein binding GO:0008092 9.02 RDX NF2 MSN EZR EPB41
8 protein binding GO:0005515 10.27 SPRED1 SDHB RET RDX RASA1 PTPN11

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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