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MCID: LKD025
MIFTS: 42
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Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Categories:
Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
MalaCards integrated aliases for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:59
adult-onset autosomal dominant leukodystrophy
Inheritance: Autosomal dominant; Age of onset: Adult; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder onset in the fourth to sixth decades (mean 40 years) autonomic dysfunction usually precedes obvious neurologic deterioration acute neurologic deterioration after viral illness has been reported duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement HPO:32
leukodystrophy, demyelinating, adult-onset, autosomal dominant:
Onset and clinical course adult onset progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
34
Orphanet: 59
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
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OMIM
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57
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). (169500)
MalaCards based summary : Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant, also known as leukodystrophy, adult-onset, autosomal dominant, is related to autosomal dominant leukodystrophy with autonomic disease and reynolds syndrome, and has symptoms including cerebellar ataxia, muscle spasticity and abnormal pyramidal signs. An important gene associated with Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant is LMNB1 (Lamin B1), and among its related pathways/superpathways are Apoptosis and Autophagy and Apoptosis and survival Caspase cascade. Affiliated tissues include spinal cord, eye and parietal lobe, and related phenotypes are nystagmus and ataxia Disease Ontology : 12 A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has material basis in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. UniProtKB/Swiss-Prot : 75 Leukodystrophy, demyelinating, autosomal dominant, adult-onset: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It 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. |
Diseases related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:169500Human phenotypes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:59 32 (show all 39)
UMLS symptoms related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:cerebellar ataxia, muscle spasticity, abnormal pyramidal signs, personality changes, cerebellar signs GenomeRNAi Phenotypes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:41
Spinal Cord,
Eye,
Parietal Lobe,
Brain
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Articles related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:(show all 15)
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Genes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:6
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Search
GEO
for disease gene expression data for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant.
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Pathways related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:
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Cellular components related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:
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