MCID: LMN017
MIFTS: 16

Lmnb1-Related Autosomal Dominant Leukodystrophy

Categories: Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lmnb1-Related Autosomal Dominant Leukodystrophy

MalaCards integrated aliases for Lmnb1-Related Autosomal Dominant Leukodystrophy:

Name: Lmnb1-Related Autosomal Dominant Leukodystrophy 24
Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms 24
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 24
Autosomal Dominant Leukodystrophy with Autonomic Symptoms 24
Lmnb1-Related Adld 24

Characteristics:


GeneReviews:

24
Penetrance The disease presents in the fourth to fifth decade of adulthood, with equal frequency in males and females. penetrance is not known but is thought to be 100%.

Classifications:



Summaries for Lmnb1-Related Autosomal Dominant Leukodystrophy

MalaCards based summary: Lmnb1-Related Autosomal Dominant Leukodystrophy, also known as adult-onset autosomal dominant leukodystrophy with autonomic symptoms, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and leukodystrophy. An important gene associated with Lmnb1-Related Autosomal Dominant Leukodystrophy is LMNB1 (Lamin B1). Affiliated tissues include medulla oblongata, spinal cord and brain.

GeneReviews: NBK338165

Related Diseases for Lmnb1-Related Autosomal Dominant Leukodystrophy

Diseases in the Leukodystrophy family:

Lmnb1-Related Autosomal Dominant Leukodystrophy Tubb4a-Related Leukodystrophy

Diseases related to Lmnb1-Related Autosomal Dominant Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
2 leukodystrophy 10.5
3 adult syndrome 10.5
4 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.4
5 pseudobulbar palsy 10.4
6 cone-rod dystrophy 2 10.3
7 aspiration pneumonia 10.3
8 urinary tract infection 10.3
9 anhidrosis 10.3
10 neurogenic bladder 10.3
11 quadriplegia 10.3
12 impotence 10.3
13 spinal cord disease 10.3
14 paraplegia 10.3
15 pathologic nystagmus 10.3
16 pure autonomic failure 10.3
17 hypertonia 10.3
18 spasticity 10.3
19 tremor 10.3

Graphical network of the top 20 diseases related to Lmnb1-Related Autosomal Dominant Leukodystrophy:



Diseases related to Lmnb1-Related Autosomal Dominant Leukodystrophy

Symptoms & Phenotypes for Lmnb1-Related Autosomal Dominant Leukodystrophy

Drugs & Therapeutics for Lmnb1-Related Autosomal Dominant Leukodystrophy

Search Clinical Trials, NIH Clinical Center for Lmnb1-Related Autosomal Dominant Leukodystrophy

Genetic Tests for Lmnb1-Related Autosomal Dominant Leukodystrophy

Anatomical Context for Lmnb1-Related Autosomal Dominant Leukodystrophy

Organs/tissues related to Lmnb1-Related Autosomal Dominant Leukodystrophy:

MalaCards : Medulla Oblongata, Spinal Cord, Brain

Publications for Lmnb1-Related Autosomal Dominant Leukodystrophy

Articles related to Lmnb1-Related Autosomal Dominant Leukodystrophy:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy. 62 24
30697589 2018
2
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis. 62 24
28769756 2017
3
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course. 62 24
26053668 2015
4
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). 62 24
25701871 2015
5
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. 62 24
18945794 2009
6
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23. 62 24
16823806 2006
7
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. 62 24
16611789 2006
8
Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes. 24
33034697 2021
9
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. 24
32910914 2020
10
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. 24
31337714 2019
11
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. 24
30842973 2019
12
LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature. 24
31695592 2019
13
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD). 24
29262292 2018
14
Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia. 24
29055464 2017
15
Timing, rates and spectra of human germline mutation. 24
26656846 2016
16
Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression. 24
26311780 2015
17
Messenger RNA processing is altered in autosomal dominant leukodystrophy. 24
25637521 2015
18
Vitamin B12 deficiency: an important reversible co-morbidity in neuropsychiatric manifestations. 24
25722508 2015
19
Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts. 24
24858279 2014
20
Guidelines for the diagnosis and treatment of cobalamin and folate disorders. 24
24942828 2014
21
Nuclear envelope: connecting structural genome organization to regulation of gene expression. 24
24563350 2014
22
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 24
23197103 2013
23
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. 24
23649844 2013
24
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant. 24
23681646 2013
25
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. 24
23676464 2013
26
Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy. 24
23261988 2013
27
Nuclear lamins in the brain - new insights into function and regulation. 24
23065386 2013
28
Nuclear lamin functions and disease. 24
22795640 2012
29
A patient with a rare leukodystrophy related to lamin B1 duplication. 24
22973660 2012
30
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. 24
21909802 2012
31
Magnetic resonance imaging findings within the posterior and lateral columns of the spinal cord extended from the medulla oblongata to the thoracic spine in a woman with subacute combined degeneration without hematologic disorders: a case report and review of the literature. 24
21524288 2011
32
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. 24
21225301 2011
33
Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. 24
20719577 2011
34
Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. 24
20816241 2010
35
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. 24
19151023 2009
36
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. 24
19001169 2008
37
Lamin B1 duplications cause autosomal dominant leukodystrophy. 24
16951681 2006
38
Multiple sclerosis. 24
11006371 2000
39
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. 24
10749986 2000
40
MRI and CT in an autosomal-dominant, adult-onset leukodystrophy. 24
9225322 1997
41
Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family. 24
9018034 1997
42
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. 24
8042923 1994
43
Computed tomography and magnetic resonance imaging in adult-onset leukodystrophy. 24
3415518 1988
44
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. 24
6472420 1984
45
New diagnostic criteria for multiple sclerosis: guidelines for research protocols. 24
6847134 1983
46
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. 62
35247231 2022
47
LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family. 62
34447008 2021
48
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy. 62
31143934 2019
49
Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. 62
30192380 2019
50
Adulthood leukodystrophies. 62
29302065 2018

Variations for Lmnb1-Related Autosomal Dominant Leukodystrophy

Expression for Lmnb1-Related Autosomal Dominant Leukodystrophy

Search GEO for disease gene expression data for Lmnb1-Related Autosomal Dominant Leukodystrophy.

Pathways for Lmnb1-Related Autosomal Dominant Leukodystrophy

GO Terms for Lmnb1-Related Autosomal Dominant Leukodystrophy

Sources for Lmnb1-Related Autosomal Dominant Leukodystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....