MCID: ATS309
MIFTS: 13

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 24 53 25
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 24 53 25
Adld 24 53 25
Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms 24 25
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 53 73
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy 24 25
Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type 53
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy 53
Adult-Onset Autosomal Dominant Leukodystrophy 53
Adult Onset Autosomal Dominant Leukodystrophy 73
Multiple Sclerosis-Like Disorder 53

Characteristics:

GeneReviews:

24
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:



External Ids:

UMLS 73 C1868512

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, demyelinating, adult-onset, autosomal dominant and leukodystrophy, and has symptoms including cerebellar ataxia, muscle spasticity and abnormal pyramidal signs.

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:

# Related Disease Score Top Affiliating Genes
1 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.5
2 leukodystrophy 10.0

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, cerebellar signs

Drugs & Therapeutics for Autosomal Dominant Leukodystrophy with Autonomic Disease

Search Clinical Trials , 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:

# Title Authors Year
1
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). ( 25701871 )
2015
2
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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