Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Leukoencephalopathy due to copper deficiency |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
4 |
Silent white matter disease due to vascular disease |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
4 |
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
6 |
Delayed post-hypoxic leukoencephalopathy |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
2 |
White matter disease due to microglioma (disorder) |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
White matter disease due to anti-phospholipid syndrome (disorder) |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
Toxic leukoencephalopathy (disorder) |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
Stereotactic leucotomy |
Procedure site - Direct (attribute) |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
3 |
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
4 |
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
3 |
Congenital hypoplasia of cerebral white matter (disorder) |
Finding site |
True |
Cerebral white matter structure |
Inferred relationship |
Some |
1 |