MCID: ATS309
MIFTS: 12

Autosomal Dominant Leukodystrophy with Autonomic Disease

Categories: Rare diseases

Aliases & Classifications for Autosomal Dominant Leukodystrophy with Autonomic Disease

MalaCards integrated aliases for Autosomal Dominant Leukodystrophy with Autonomic Disease:

Name: Autosomal Dominant Leukodystrophy with Autonomic Disease 23 50 25
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 23 50 25
Adld 23 50 25
Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms 23 25
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 50 69
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy 23 25
Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type 50
Multiple Sclerosis-Like Disorder 50

Characteristics:

GeneReviews:

23
Penetrance The disease presents in the fourth to fifth decades of adulthood with no gender variation. penetrance is not known but is thought to be 100%...

Classifications:



Summaries for Autosomal Dominant Leukodystrophy with Autonomic Disease

Genetics Home Reference : 25 Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates and protects nerve fibers and promotes the rapid transmission of nerve impulses.

MalaCards based summary : Autosomal Dominant Leukodystrophy with Autonomic Disease, also known as autosomal dominant adult-onset demyelinating leukodystrophy, is related to leukodystrophy, adult-onset, autosomal dominant and leukodystrophy, and has symptoms including cerebellar ataxia, muscle spasticity and abnormal pyramidal signs.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on leukodystrophy.

GeneReviews: NBK338165

Related Diseases for Autosomal Dominant Leukodystrophy with Autonomic Disease

Diseases related to Autosomal Dominant Leukodystrophy with Autonomic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 leukodystrophy, adult-onset, autosomal dominant 11.6
2 leukodystrophy 9.9

Symptoms & Phenotypes for Autosomal Dominant Leukodystrophy with Autonomic Disease

UMLS symptoms related to Autosomal Dominant Leukodystrophy with Autonomic Disease:


cerebellar ataxia, muscle spasticity, abnormal pyramidal signs, personality changes

Drugs & Therapeutics for Autosomal Dominant Leukodystrophy with Autonomic Disease

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Dominant Leukodystrophy with Autonomic Disease

Genetic Tests for Autosomal Dominant Leukodystrophy with Autonomic Disease

Anatomical Context for Autosomal Dominant Leukodystrophy with Autonomic Disease

Publications for Autosomal Dominant Leukodystrophy with Autonomic Disease

Articles related to Autosomal Dominant Leukodystrophy with Autonomic Disease:

id Title Authors Year
1
Autosomal Dominant Leukodystrophy with Autonomic Disease ( 26749591 )
1993

Variations for Autosomal Dominant Leukodystrophy with Autonomic Disease

Expression for Autosomal Dominant Leukodystrophy with Autonomic Disease

Search GEO for disease gene expression data for Autosomal Dominant Leukodystrophy with Autonomic Disease.

Pathways for Autosomal Dominant Leukodystrophy with Autonomic Disease

GO Terms for Autosomal Dominant Leukodystrophy with Autonomic Disease

Sources for Autosomal Dominant Leukodystrophy with Autonomic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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33 ICD10
34 ICD10 via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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