Statements (142)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Oncology
gptkb:Genetics |
| gptkbp:affects |
Nervous system
both genders all ethnic groups |
| gptkbp:associated_with |
gptkb:neurofibromatosis
|
| gptkbp:can_cause |
Social stigma
Disability chronic pain vision problems Chronic pain hearing loss psychosocial issues |
| gptkbp:can_detect |
Ultrasound
CT scans ultrasound MRI scans |
| gptkbp:can_lead_to |
gptkb:optic_gliomas
Tumors neurofibromas malignant peripheral nerve sheath tumors |
| gptkbp:caused_by |
mutations in NF1 gene
mutations in NF2 gene Mutations in NF1 gene Mutations in NF2 gene |
| gptkbp:clinical_trial |
gptkb:gene_therapy
ongoing investigational drugs |
| gptkbp:complication |
functional impairment
disfigurement malignant transformation |
| gptkbp:condition |
hypertension
seizures learning disabilities scoliosis optic glioma |
| gptkbp:diagnosis |
gptkb:MRI
CT scan Genetic testing generally good depends on type genetic testing clinical evaluation |
| gptkbp:diseases |
gptkb:True
gptkb:true |
| gptkbp:financial_support |
gptkb:educational_resources
counseling services support groups |
| gptkbp:first_described_by |
1882
|
| gptkbp:gender |
equal in males and females
|
| gptkbp:genetic_disorder |
gptkb:neurofibromatosis_type_1
gptkb:neurofibromatosis_type_2 |
| gptkbp:has_type |
gptkb:Neurofibromatosis_type_1
gptkb:Neurofibromatosis_type_2 gptkb:Schwannomatosis |
| https://www.w3.org/2000/01/rdf-schema#label |
neurofibromatosis
|
| gptkbp:impact |
quality of life
|
| gptkbp:is_associated_with |
Hearing loss
Learning disabilities Vision problems Lisch nodules freckling in armpits or groin cafe-au-lait spots neurofibromas on skin Bone deformities |
| gptkbp:is_common_in |
gptkb:children
adults Children and adults Both genders equally |
| gptkbp:is_considered |
a lifelong condition
|
| gptkbp:is_documented_in |
gptkb:literature
|
| gptkbp:is_explored_in |
genetic counseling.
|
| gptkbp:is_hereditary |
gptkb:Yes
autosomal dominant |
| gptkbp:is_linked_to |
Psychiatric disorders
Cardiovascular issues Increased risk of certain cancers |
| gptkbp:is_managed_by |
gptkb:pharmaceuticals
gptkb:surgery Regular monitoring multidisciplinary teams |
| gptkbp:is_part_of |
neurocutaneous syndromes
|
| gptkbp:is_recognized_by |
gptkb:World_Health_Organization
gptkb:National_Institutes_of_Health gptkb:healthcare_professionals |
| gptkbp:is_related_to |
other genetic disorders
|
| gptkbp:is_studied_in |
gptkb:Oncology
Neuroscience clinical research genetic research Medical genetics |
| gptkbp:is_supported_by |
patient advocacy groups
|
| gptkbp:location |
gptkb:computer
|
| gptkbp:named_after |
gptkb:Friedrich_von_Recklinghausen
|
| gptkbp:occurs_in |
Any ethnic group
|
| gptkbp:photography |
gptkb:medical_imaging
ultrasound PET scan |
| gptkbp:premiered_on |
childhood
adulthood |
| gptkbp:prevalence |
rare
1 in 3,000 births |
| gptkbp:public_awareness |
gptkb:fundraising_events
community outreach programs neurofibromatosis awareness month |
| gptkbp:replaced_by |
gptkb:True
|
| gptkbp:requires |
regular monitoring
|
| gptkbp:research_focus |
Clinical trials
patient outcomes treatment options Genetic therapies genetic basis Symptom management strategies |
| gptkbp:risk_factor |
gptkb:Genetics
family history |
| gptkbp:scientific_classification |
cutaneous neurofibroma
plexiform neurofibroma |
| gptkbp:specialties |
biopsy
excision debulking |
| gptkbp:symptoms |
pain
pain relief physical therapy learning disabilities psychological support numbness skin changes bone deformities Lisch nodules tumors on nerves Café-au-lait spots Neurofibromas |
| gptkbp:treatment |
gptkb:pharmaceuticals
gptkb:surgery Pain management Chemotherapy Radiation therapy radiation therapy |
| gptkbp:type |
gptkb:Oncology
|
| gptkbp:bfsParent |
gptkb:Oncology
gptkb:John_Merrick |
| gptkbp:bfsLayer |
4
|