Statements (82)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
5
|
| gptkbp:bfsParent |
gptkb:Cockayne_syndrome
|
| gptkbp:affects |
males more frequently than females
|
| gptkbp:associated_with |
seizures
immunodeficiency hypotonia scoliosis dental problems |
| gptkbp:caused_by |
mutation in AT P7 A gene
|
| gptkbp:clinical_trial |
gptkb:historical_event
cognitive decline ongoing sleep disturbances aggression hypothermia poor coordination vision problems hearing loss ataxia intellectual disability muscle weakness academic challenges relationship issues social withdrawal family stress failure to thrive hallucinations emotional instability tremors dysphagia delusions psychosis social difficulties chronic infections dysarthria skin changes gastrointestinal issues autonomic dysfunction personality changes cardiovascular problems spasticity developmental delay hypopigmentation self-injurious behavior severe fatigue joint laxity severe anxiety seizure disorders abnormal reflexes endocrine dysfunction severe behavioral issues behavioral regression dysfunction of the nervous system occupational difficulties renal problems severe constipation |
| gptkbp:current_use |
gptkb:Wilson's_disease
copper overload disorders |
| gptkbp:descendant |
X-linked recessive
|
| gptkbp:first_described_by |
John Menkes
|
| gptkbp:genetic_diversity |
gptkb:stock_market_index
recommended for families |
| https://www.w3.org/2000/01/rdf-schema#label |
Menkes disease
|
| gptkbp:is_popular_in |
rare disorder
|
| gptkbp:lifespan |
variable
|
| gptkbp:research |
early diagnosis improves outcomes
copper supplementation can be beneficial neurological damage is often irreversible |
| gptkbp:research_focus |
gptkb:physicist
new treatment options copper metabolism |
| gptkbp:screenings |
newborn screening not widely implemented
|
| gptkbp:social_responsibility |
genetic testing
clinical evaluation |
| gptkbp:symptoms |
growth failure
neurological problems brittle hair copper deficiency |
| gptkbp:treatment |
supportive care
copper histidinate injections |
| gptkbp:year_created |
gptkb:1962
|