NF1
MCID: NRF026
MIFTS: 74

Neurofibromatosis, Type Iv, of Riccardi (NF1)

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 76
Neurofibromatosis 12 76 53 54 29 55 43 15 40
Neurofibromatosis Type 1 12 53 25 37 55 15
Neurofibromatosis Type 2 12 76 53 25 37 55
Neurofibromatosis 1 12 24 25 44 73
Neurofibromatosis Type Ii 76 24 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-noonan syndrome and neurilemmoma, 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 MAPK signaling pathway and Ras signaling pathway. The drugs Orange and Minocycline have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are macrocephaly and genu valgum

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.

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 : 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 800)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 33.3 PTPN11 NF1
2 neurilemmoma 32.8 PDGFRA NF2 NF1 KIT
3 legius syndrome 32.7 PTPN11 NF1 MSH6
4 pheochromocytoma 32.3 VHL SDHD SDHC SDHB RET NF1
5 leukemia 32.2 PTPN11 NF1 KIT CDKN2B-AS1
6 neurofibromatosis, type i 32.2 RASA2 RASA1 PDGFRA NF1 KIT CDKN2B-AS1
7 neurofibroma 32.2 PDGFRA NF2 NF1 KIT
8 juvenile myelomonocytic leukemia 32.2 PTPN11 PDGFRA NF1
9 chronic myelomonocytic leukemia 32.1 PTPN11 NF1 KIT
10 malignant spindle cell melanoma 32.0 NF1 KIT
11 noonan syndrome 1 32.0 RASA2 PTPN11 NF1 HRAS
12 pulmonic stenosis 32.0 PTPN11 NF1 HRAS
13 plexiform neurofibroma 31.9 NF2 NF1 CDKN2B-AS1
14 nervous system cancer 31.8 NF2 NF1 CDKN2B-AS1
15 neurofibrosarcoma 31.8 NF2 NF1
16 neurofibromatosis, familial spinal 31.8 NF2 NF1
17 malignant peripheral nerve sheath tumor 31.7 PDGFRA NF2 NF1 KIT
18 paraganglioma 31.7 VHL SDHD SDHC SDHB RET NF1
19 atypical neurofibroma 31.6 NF2 NF1
20 leopard syndrome 31.6 PTPN11 NF1 HRAS
21 plexiform schwannoma 31.6 NF2 NF1 KIT
22 paraganglioma and gastric stromal sarcoma 31.6 SDHD SDHC SDHB
23 nervous system benign neoplasm 31.6 NF2 NF1 KIT
24 multiple endocrine neoplasia, type iia 31.6 SDHD SDHB RET NF1
25 von hippel-lindau syndrome 31.6 VHL SDHD SDHC SDHB RET NF1
26 immature cataract 31.6 NF2 NF1
27 myelodysplastic myeloproliferative cancer 31.5 PTPN11 NF1 HRAS
28 vulvar melanoma 31.4 NF1 KIT HRAS
29 sporadic pheochromocytoma 31.2 VHL SDHD SDHC SDHB RET NF1
30 multiple endocrine neoplasia 31.2 VHL SDHC SDHB RET NF1
31 bone marrow cancer 31.1 PTPN11 PDGFRA NF1 KIT HRAS
32 hereditary paraganglioma-pheochromocytoma syndromes 31.0 VHL SDHD SDHC SDHB RET
33 autosomal dominant disease 30.8 PMS2 NF1 MSH6
34 autosomal genetic disease 30.6 SDHD SDHB RET PMS2 NF2 NF1
35 brain cancer 30.5 PTPN11 PMS2 PDGFRA NF2 NF1 MSH6
36 leukemia, acute myeloid 29.9 PTPN11 KIT HRAS CDKN2B-AS1
37 leukemia, chronic myeloid 29.7 RASA1 PDGFRA KIT HRAS
38 myeloproliferative neoplasm 29.7 PTPN11 PDGFRA KIT
39 gastrointestinal stromal tumor 29.4 SDHD SDHC SDHB PDGFRA NF1 KIT
40 desmoid tumor 29.4 PDGFRA KIT
41 rhabdomyosarcoma 29.3 PTPN11 PMS2 PDGFRA MSH6
42 carney triad 29.0 SDHD SDHC SDHB PDGFRA KIT
43 neurofibromatosis, type ii 12.4
44 chromosome 17q11.2 deletion syndrome, 1.4-mb 12.3
45 neurofibromatosis, type iii, mixed central and peripheral 12.1
46 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.1
47 chromosome 17q11.2 deletion syndrome 12.1
48 watson syndrome 11.9
49 pilocytic astrocytoma 11.8
50 schwannomatosis 1 11.7

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 macrocephaly 32 occasional (7.5%) HP:0000256
2 genu valgum 32 frequent (33%) HP:0002857
3 hydrocephalus 32 occasional (7.5%) HP:0000238
4 hypertension 32 occasional (7.5%) HP:0000822
5 precocious puberty 32 occasional (7.5%) HP:0000826
6 seizures 32 occasional (7.5%) HP:0001250
7 ataxia 32 frequent (33%) HP:0001251
8 neurological speech impairment 32 frequent (33%) HP:0002167
9 scoliosis 32 occasional (7.5%) HP:0002650
10 kyphosis 32 occasional (7.5%) HP:0002808
11 hearing impairment 32 frequent (33%) HP:0000365
12 cataract 32 occasional (7.5%) HP:0000518
13 skeletal dysplasia 32 frequent (33%) HP:0002652
14 corneal opacity 32 occasional (7.5%) HP:0007957
15 joint stiffness 32 occasional (7.5%) HP:0001387
16 visual impairment 32 occasional (7.5%) HP:0000505
17 short stature 32 occasional (7.5%) HP:0004322
18 abnormality of retinal pigmentation 32 occasional (7.5%) HP:0007703
19 delayed puberty 32 hallmark (90%) HP:0000823
20 intellectual disability, mild 32 hallmark (90%) HP:0001256
21 subcutaneous nodule 32 hallmark (90%) HP:0001482
22 abnormal electroretinogram 32 occasional (7.5%) HP:0000512
23 abnormality of the hip bone 32 occasional (7.5%) HP:0003272
24 cryptorchidism 32 frequent (33%) HP:0000028
25 attention deficit hyperactivity disorder 32 frequent (33%) HP:0007018
26 specific learning disability 32 hallmark (90%) HP:0001328
27 myopia 32 occasional (7.5%) HP:0000545
28 melanocytic nevus 32 hallmark (90%) HP:0000995
29 multiple lipomas 32 hallmark (90%) HP:0001012
30 hypopigmented skin patches 32 occasional (7.5%) HP:0001053
31 memory impairment 32 frequent (33%) HP:0002354
32 paresthesia 32 frequent (33%) HP:0003401
33 heterochromia iridis 32 frequent (33%) HP:0001100
34 abnormality of the upper urinary tract 32 occasional (7.5%) HP:0010935
35 abnormal hair quantity 32 occasional (7.5%) HP:0011362
36 chorioretinal coloboma 32 occasional (7.5%) HP:0000567
37 glaucoma 32 occasional (7.5%) HP:0000501
38 pheochromocytoma 32 occasional (7.5%) HP:0002666
39 multiple cafe-au-lait spots 32 hallmark (90%) HP:0007565
40 genu varum 32 occasional (7.5%) HP:0002970
41 recurrent fractures 32 frequent (33%) HP:0002757
42 macule 32 hallmark (90%) HP:0012733
43 arterial stenosis 32 occasional (7.5%) HP:0100545
44 proptosis 32 frequent (33%) HP:0000520
45 astrocytoma 32 hallmark (90%) HP:0009592
46 headache 32 frequent (33%) HP:0002315
47 meningioma 32 hallmark (90%) HP:0002858
48 abnormality of the respiratory system 32 occasional (7.5%) HP:0002086
49 generalized hyperpigmentation 32 hallmark (90%) HP:0007440
50 tall stature 32 frequent (33%) HP:0000098

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 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 HRAS PDGFRA NF1 RET SDHD VHL
4 Decreased viability GR00221-A-2 10.65 HRAS NF1 RET SDHD VHL
5 Decreased viability GR00221-A-3 10.65 HRAS NF2 PDGFRA RASA1
6 Decreased viability GR00221-A-4 10.65 PDGFRA RASA1 NF1 RET SDHD RASA2
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 RASA1 SDHD
10 Decreased viability GR00402-S-2 10.65 HRAS NF2 PDGFRA RASA1 NF1 RET
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 HRAS KIT NF1 PDGFRA PTPN11 RASA1
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 HRAS KIT NF1 PDGFRA PMS2 PTPN11
9 embryo MP:0005380 10.21 KIT NF1 NF2 PDGFRA PTPN11 RASA1
10 immune system MP:0005387 10.19 KIT MSH6 NF1 NF2 PDGFRA PMS2
11 craniofacial MP:0005382 10.18 HRAS KIT NF1 NF2 PDGFRA PTPN11
12 neoplasm MP:0002006 10.15 HRAS KIT MSH6 NF1 NF2 PDGFRA
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 HRAS KIT OMG PDGFRA PTPN11 RASA1
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Orange Approved Phase 3
2
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
3 Anti-Infective Agents Phase 3
4 Anti-Bacterial Agents Phase 3
5 Carboxymethylcellulose Sodium Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3 Minocycline;Placebo

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
2 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 923)
# Title Authors Year
1
Dramatic response to trametinib in a male child with neurofibromatosis type 1 and refractory astrocytoma. ( 30251337 )
2019
2
Chemopreventative celecoxib fails to prevent schwannoma formation or sensorineural hearing loss in genetically engineered murine model of neurofibromatosis type 2. ( 29416648 )
2018
3
Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly. ( 29215515 )
2018
4
Subarachnoid Hemorrhage from Vertebral Arteriovenous Fistula without Perimedullary Drainage: Rare Stroke Hemorrhagic Event in a Patient of Neurofibromatosis Type 1. ( 29479040 )
2018
5
Attention Deficit Hyperactivity Disorder in Neurofibromatosis Type 1: Evaluation with a Continuous Performance Test. ( 29629523 )
2018
6
Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms. ( 30447756 )
2018
7
Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis. ( 30097761 )
2018
8
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1). ( 29423604 )
2018
9
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation. ( 30530636 )
2018
10
Neurofibromatosis Type 1 Vasculopathy Presenting as Impending Central Retinal Artery Occlusion. ( 30540635 )
2018
11
First case of neurofibromatosis with posterior reversible encephalopathy syndrome showing spinal cord involvement. ( 30050237 )
2018
12
Epilepsy surgery for a patient with neurofibromatosis type 1 concomitant with moyamoya syndrome. ( 30381160 )
2018
13
A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2. ( 30122282 )
2018
14
Duodenal neuroendocrine tumor, adenocarcinoma and gastrointestinal stromal tumor in association with neurofibromatosis type 1: An unique occurrence. ( 30004065 )
2018
15
Recurrent Gastric Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis. ( 30148007 )
2018
16
Malignant Conversion to Glioblastoma in Neurofibromatosis Type I-associated Pleomorphic Xanthoastrocytoma: Unknown Predictors of Favorable Outcome. ( 30283557 )
2018
17
The molecular landscape of glioma in patients with Neurofibromatosis 1. ( 30531922 )
2018
18
Prevalence of Strabismus Among Children With Neurofibromatosis Type 1 Disease With and Without Optic Pathway Glioma. ( 30371910 )
2018
19
Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. ( 30087692 )
2018
20
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. ( 30466240 )
2018
21
Parathyroid Carcinoma Causing Mild Hyperparathyroidism in Neurofibromatosis Type 1: A Case Report and Systematic Review. ( 30198445 )
2018
22
Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1. ( 29623209 )
2018
23
Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis. ( 29984275 )
2018
24
Diffuse lung disease associated with neurofibromatosis type-1 can also affect children. ( 29516392 )
2018
25
Malignant peripheral nerve sheath tumor: Transformation in a patient with neurofibromatosis type 2. ( 30408304 )
2018
26
Malignant peripheral nerve sheath tumor of the breast in a patient with neurofibromatosis 1. ( 30230131 )
2018
27
A recurrent laryngeal nerve malignant peripheral nerve sheath tumor in a child with neurofibromatosis type 1. ( 30365627 )
2018
28
Natural History of Medulloblastoma in a Child with Neurofibromatosis Type I. ( 30283582 )
2018
29
THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1. ( 29079545 )
2018
30
An Autopsy Case of Sudden Death in Neurofibromatosis Type 1 With Pheochromocytoma and Myocarditis. ( 29210711 )
2018
31
Dietary intervention rescues myopathy associated with neurofibromatosis type 1. ( 29228356 )
2018
32
Pigmented (melanotic) diffuse neurofibroma of the back in neurofibromatosis type 1. ( 30112270 )
2018
33
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2018
34
Giant plexiform neurofibroma in neurofibromatosis type 1. ( 30246960 )
2018
35
Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma. ( 30413310 )
2018
36
Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1. ( 30444769 )
2018
37
Appendiceal neurofibroma with low-grade appendiceal mucinous neoplasm in neurofibromatosis type 1 patient: A case report. ( 30481737 )
2018
38
Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report. ( 30038498 )
2018
39
Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1. ( 30120202 )
2018
40
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1. ( 29158289 )
2018
41
A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma. ( 29172408 )
2018
42
Plexiform Schwannoma of the Tongue in a Pediatric Patient with Neurofibromatosis Type 2: A Case Report and Review of Literature. ( 30410810 )
2018
43
Post-traumatic Stress Disorder in Patients and Relatives Following a Diagnosis of De novo Neurofibromatosis Type 1. ( 28971207 )
2018
44
Pulmonary hypertension associated with neurofibromatosis type 1. ( 30158278 )
2018
45
Macitentan Use in a Neurofibromatosis Type 1 Patient With Pulmonary Hypertension and External Jugular Phlebectasia. ( 29059078 )
2018
46
Biliary Rhabdomyosarcoma in an Infant Male With Neurofibromatosis Type 1. ( 29683957 )
2018
47
Sarcoma in neurofibromatosis 2: case report and review of the literature. ( 29761250 )
2018
48
Surgical Treatment of Dystrophic Scoliosis in Neurofibromatosis Type 1: Outcomes and Complications. ( 30273186 )
2018
49
Predictive Value and Interrater Reliability of Radiographic Factors in Neurofibromatosis Patients With Dystrophic Scoliosis. ( 30122392 )
2018
50
Intracranial arterial dolichoectasia and superficial siderosis associated to neurofibromatosis type 1: report of one case. ( 30097749 )
2018

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
3 Hippo signaling pathway hsa04390

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

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 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
12.48 HRAS PDGFRA PTPN11 RASA1
6 12.4 HRAS KIT NF1 PDGFRA RASA1 RASA2
7
Show member pathways
12.3 HRAS KIT PDGFRA PTPN11
8
Show member pathways
12.29 HRAS NF1 PTPN11 RASA1
9
Show member pathways
12.2 HRAS NF1 RASA1 RASA2
10
Show member pathways
12.03 HRAS PDGFRA PTPN11 RASA1
11
Show member pathways
11.95 HRAS PTPN11 RASA1
12
Show member pathways
11.94 SDHB SDHC SDHD
13
Show member pathways
11.94 HRAS NF1 RASA1 RASA2
14
Show member pathways
11.91 HRAS NF1 RASA1 RASA2
15 11.87 HRAS NF1 PTPN11
16
Show member pathways
11.82 SDHB SDHC SDHD
17
Show member pathways
11.81 HRAS KIT NF1 PDGFRA PTPN11 RASA1
18
Show member pathways
11.79 HRAS PTPN11 RASA1
19 11.78 HRAS NF1 NF2 PDGFRA
20
Show member pathways
11.71 HRAS KIT RET
21
Show member pathways
11.59 HRAS PTPN11 RASA1 VHL
22
Show member pathways
11.53 NF1 RASA1 RASA2
23 11.49 HRAS PTPN11 RASA1
24 11.43 NF1 RASA1 RASA2
25 11.43 HRAS NF1 RET
26 11.37 HRAS PTPN11 RASA1
27 11.28 HRAS RASA1 RET
28 11.27 HRAS KIT PDGFRA RET
29 11.17 HRAS NF1 RASA1
30 10.84 HRAS PTPN11 RASA1 RET
31 10.18 HRAS 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 9.16 MSH6 PMS2
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 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 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.93 KIT PDGFRA RASA1 RET VHL
2 positive regulation of GTPase activity GO:0043547 9.91 HRAS NF1 RASA1 RASA2
3 activation of MAPK activity GO:0000187 9.77 KIT PTPN11 RET
4 negative regulation of signal transduction GO:0009968 9.77 KIT PDGFRA RET
5 positive regulation of protein kinase B signaling GO:0051897 9.76 KIT PDGFRA PTPN11 RET
6 phosphatidylinositol phosphorylation GO:0046854 9.75 KIT PDGFRA PTPN11
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.73 KIT PDGFRA RET
8 positive regulation of MAPK cascade GO:0043410 9.73 HRAS KIT PDGFRA RET
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.72 HRAS KIT PDGFRA PTPN11 RET
10 regulation of GTPase activity GO:0043087 9.7 NF1 RASA1 RASA2
11 ephrin receptor signaling pathway GO:0048013 9.67 HRAS PTPN11 RASA1
12 somatic hypermutation of immunoglobulin genes GO:0016446 9.58 MSH6 PMS2
13 tricarboxylic acid cycle GO:0006099 9.58 SDHB SDHC SDHD
14 megakaryocyte development GO:0035855 9.57 KIT PTPN11
15 negative regulation of JAK-STAT cascade GO:0046426 9.55 NF2 VHL
16 positive regulation of cell migration GO:0030335 9.55 CDKN2B-AS1 HRAS KIT PDGFRA RET
17 negative regulation of Ras protein signal transduction GO:0046580 9.54 NF1 RASA1 RASA2
18 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 NF1 RET
19 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.48 SDHC SDHD
20 negative regulation of cell-matrix adhesion GO:0001953 9.43 NF1 NF2 RASA1
21 MAPK cascade GO:0000165 9.17 HRAS KIT NF1 PDGFRA RASA1 RASA2
22 positive regulation of phospholipase C activity GO:0010863 9.13 HRAS KIT PDGFRA

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.58 KIT PDGFRA RET
2 electron transfer activity GO:0009055 9.5 SDHB SDHC SDHD
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 KIT PDGFRA PTPN11
4 mismatched DNA binding GO:0030983 9.37 MSH6 PMS2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 KIT PDGFRA RET
6 ubiquinone binding GO:0048039 9.13 SDHB SDHC SDHD
7 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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