Leukodystrophy, demyelinating, adult-onset, autosomal dominant

Preferred Label : Leukodystrophy, demyelinating, adult-onset, autosomal dominant;

Symbol : ADLD;

CISMeF acronym : ADLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pelizaeus-merzbacher disease, autosomal dominant or late-onset type;

Description : Autosomal dominant adult-onset demyelinating leukodystrophy is a slowly progressive and fatal disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. ADLD differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis (summary by Padiath et al., 2006). Characteristic MRI findings include T2-weighted hyperintense changes in the upper corticospinal tract and cerebellar peduncles, with later development of confluent white matter changes in the frontoparietal area with relative sparing of the periventricular white matter (summary by Schuster et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 72 kb of 5q23.2 including at a minimum the lamin B1 gene (LMNB1, 150340.0001);

Laboratory abnormalities : Patient cells have increased levels of LMNB1 mRNA and protein;

Prefixed ID : #169500;

Details

Origin ID

169500;

UMLS CUI

C1868512;

Automatic exact mappings (from CISMeF team)
- LMNB1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Adult onset autosomal dominant leukodystrophy (disorder) [SNOMED CT concept]
- Adult-onset autosomal dominant leukodystrophy [ICD-11 More detail]
- Adult-onset autosomal dominant leukodystrophy [ORDO Disease]
- adult-onset autosomal dominant demyelinating leukodystrophy [DO Concept]
- leukodystrophy, demyelinating, Adult-Onset, autosomal dominant [MeSH concept]
- leukodystrophy, demyelinating, Adult-Onset, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- adult-onset autosomal dominant demyelinating leukodystrophy [DO Concept]
Genes related to phenotype
- Lamin b1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autonomic bladder dysfunction [HPO term]
- Autonomic erectile dysfunction [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Bowel incontinence [HPO term]
- Constipation [HPO term]
- Corpus callosum atrophy [HPO term]
- Decreased sweating due to autonomic dysfunction [HPO term]
- Depression [HPO term]
- Diaphoresis [HPO term]
- Diffuse leukoencephalopathy [HPO term]
- Gliosis [HPO term]
- Hyperreflexia [HPO term]
- Impotence [HPO term]
- Leukodystrophy [HPO term]
- Nystagmus [HPO term]
- Orthostatic hypotension due to autonomic dysfunction [HPO term]
- Personality changes [HPO term]
- Progressive [HPO term]
- Progressive neurologic deterioration [HPO term]
- Pseudobulbar paralysis [HPO term]
- Spasticity [HPO term]
- Symmetric peripheral demyelination [HPO term]
ORDO concept(s)
- Adult-onset autosomal dominant leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset autosomal dominant leukodystrophy [ORDO Disease]
- leukodystrophy, demyelinating, Adult-Onset, autosomal dominant [MeSH Supplementary Concept]
- leukodystrophy, demyelinating, Adult-Onset, autosomal dominant [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients