MCID: ATS309
MIFTS: 14

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 49 24
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 23 49 24
Adld 23 49 24
Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms 23 24
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 49 69
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy 23 24
Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type 49
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy 49
Adult-Onset Autosomal Dominant Leukodystrophy 49
Adult Onset Autosomal Dominant Leukodystrophy 69
Multiple Sclerosis-Like Disorder 49

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:



External Ids:

UMLS 69 C1868512

Summaries for Autosomal Dominant Leukodystrophy with Autonomic Disease

Genetics Home Reference : 24 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 signs, personality changes and abnormal pyramidal signs. An important gene associated with Autosomal Dominant Leukodystrophy with Autonomic Disease is LMNB1 (Lamin B1).

NIH Rare Diseases : 49 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:

# Related Disease Score Top Affiliating Genes
1 leukodystrophy, demyelinating, adult-onset, autosomal dominant 11.9
2 leukodystrophy 10.0

Symptoms & Phenotypes for Autosomal Dominant Leukodystrophy with Autonomic Disease

UMLS symptoms related to Autosomal Dominant Leukodystrophy with Autonomic Disease:


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

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
Autosomal Dominant Leukodystrophy with Autonomic Disease ( 26749591 )
1993

Variations for Autosomal Dominant Leukodystrophy with Autonomic Disease

ClinVar genetic disease variations for Autosomal Dominant Leukodystrophy with Autonomic Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNB1 LMNB1, DUP, CHR5: 126,102,443-126,199,753 SRO, GRCh37 duplication Pathogenic

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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