Leukoencephalopathy, hereditary diffuse, with spheroids 1

Preferred Label : Leukoencephalopathy, hereditary diffuse, with spheroids 1;

Symbol : HDLS1;

CISMeF acronym : ALSP; GPSC; HDLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia, familial, neumann type; ALSP; Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia; Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant; Gliosis, familial progressive subcortical; GPSC; Subcortical gliosis of neumann;

Description : Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by Rademakers et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the colony-stimulating factor 1 receptor gene (CSF1R, 164770.0001);

Prefixed ID : #221820;

Details

Origin ID

221820;

UMLS CUI

C5561929;

Automatic exact mappings (from CISMeF team)
- Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia [NCIt concept]
- CSF1R wt Allele [NCIt concept]
- Cholesterol.in HDL:MCnc:Pt:Ser/Plas:Qn: [LOINC code]
- HDL [MedDRA LLT]
- High Density Lipoprotein [NCIt concept]
- High density lipoprotein [FMA entity]
- High density lipoprotein (substance) [SNOMED CT concept]
- Lipoprotein.alpha [LOINC component]
- adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [DO Concept]
- cholesterol [MedlinePlus Topic]
- obsolete high-density lipoprotein [GO term]
DO Cross reference
- adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [DO Concept]
Genes related to phenotype
- Colony-stimulating factor 1 receptor [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Adult onset [HPO term]
- Apraxia [HPO term]
- Auditory hallucinations [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bradykinesia [HPO term]
- CNS demyelination [HPO term]
- Corpus callosum atrophy [HPO term]
- Delusions [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Frontal lobe dementia [HPO term]
- Gait disturbance [HPO term]
- Gliosis [HPO term]
- Global brain atrophy [HPO term]
- Hyperreflexia [HPO term]
- Impaired executive functioning [HPO term]
- Late young adult onset [HPO term]
- Leukoencephalopathy [HPO term]
- Memory impairment [HPO term]
- Mental deterioration [HPO term]
- Middle age onset [HPO term]
- Mutism [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Rapidly progressive [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Shuffling gait [HPO term]
- Somatic sensory dysfunction [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia [NCIt concept]
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
- Hereditary diffuse leukoencephalopathy with spheroids (disorder) [SNOMED CT concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH Supplementary Concept]
- hereditary diffuse leukoencephalopathy with spheroids [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia [ORDO Disease]
- Hereditary diffuse leukoencephalopathy with spheroids (disorder) [SNOMED CT concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH concept]
- hereditary diffuse leukoencephalopathy with spheroids [MeSH Supplementary Concept]
- hereditary diffuse leukoencephalopathy with spheroids [Disease (Nov.)]

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