Statements (92)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
life expectancy
any part of the body |
| gptkbp:associated_with |
gptkb:PTEN_gene_mutation
tumors |
| gptkbp:can_cause |
challenges in daily activities
|
| gptkbp:can_lead_to |
gptkb:social_stigma
surgical complications functional impairment psychosocial issues disfigurement mobility challenges challenges in daily living complications in surgery |
| gptkbp:cause |
tumors
overgrowth of bones overgrowth of skin overgrowth of other tissues |
| gptkbp:challenges |
diagnose
treat |
| gptkbp:diagnosis |
gptkb:Maffucci_syndrome
gptkb:neurofibromatosis clinical evaluation |
| gptkbp:discovered_by |
gptkb:1979
|
| gptkbp:diseases |
gptkb:true
|
| gptkbp:first_described_by |
gptkb:Dr._Michael_Cohen
|
| https://www.w3.org/2000/01/rdf-schema#label |
Proteus syndrome
|
| gptkbp:inherits_from |
gptkb:true
|
| gptkbp:is_a_basis_for |
mutation in the AKT1 gene
|
| gptkbp:is_a_subject_of |
clinical studies
|
| gptkbp:is_associated_with |
gptkb:Maffucci_syndrome
gptkb:neurofibromatosis increased risk of cancer physical disabilities psychological impact other syndromes Klippel-Trenaunay syndrome |
| gptkbp:is_characterized_by |
cysts
skin lesions progressive nature variable expressivity nevi disproportionate growth varied presentation unpredictable progression varied clinical presentation |
| gptkbp:is_common_in |
males
|
| gptkbp:is_considered |
a rare condition
a mosaic disorder |
| gptkbp:is_documented_in |
gptkb:literature
case reports medical textbooks genetic databases |
| gptkbp:is_explored_in |
clinical trials
patient registries genetic research |
| gptkbp:is_managed_by |
gptkb:healthcare_professionals
oncologists dermatologists orthopedic surgeons specialists in genetics |
| gptkbp:is_rarely_diagnosed_before |
infancy
|
| gptkbp:is_recognized_by |
gptkb:healthcare_professionals
genetic testing imaging studies biopsy medical community |
| gptkbp:is_related_to |
other overgrowth syndromes
|
| gptkbp:is_under_research_for |
improving patient outcomes
understanding genetic causes better treatment methods |
| gptkbp:named_after |
Proteus, the Greek god
Greek sea god Proteus |
| gptkbp:prevalence |
very rare
|
| gptkbp:replaced_by |
gptkb:true
|
| gptkbp:requires |
psychological support
multidisciplinary care long-term follow-up |
| gptkbp:requires_multidisciplinary_care |
yes
|
| gptkbp:research_focus |
patient quality of life
genetic mechanisms treatment options |
| gptkbp:symptoms |
lipomas
skin lesions vascular malformations asymmetrical overgrowth asymmetrical body growth |
| gptkbp:treatment |
physical therapy
pain management surgical intervention |
| gptkbp:bfsParent |
gptkb:John_Merrick
|
| gptkbp:bfsLayer |
4
|