ADLD
MCID: LKD025
MIFTS: 53

Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant (ADLD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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:

Name: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 57 19 71
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy 11 19 58 28 5 14
Adld 57 11 19 42 58 73
Autosomal Dominant Leukodystrophy with Autonomic Disease 19 42 75
Leukodystrophy, Adult-Onset, Autosomal Dominant 57 12 38
Adult-Onset Autosomal Dominant Leukodystrophy 11 19 58
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 19 42
Multiple Sclerosis-Like Disorder 19 73
Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type, Formerly 57
Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms 42
Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type 19
Autosomal-Dominant or Late-Onset Type Pelizaeus-Merzbacher Disease 11
Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset 73
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy 42
Pelizaeus-Merzbacher Disease Autosomal Dominant 73
Adult Onset Autosomal Dominant Leukodystrophy 71
Pelizaeus-Merzbacher Disease Late-Onset Type 73

Characteristics:


Inheritance:

Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant: Autosomal dominant 57
Adult-Onset Autosomal Dominant Leukodystrophy: Autosomal dominant 58

Age Of Onset:

Adult-Onset Autosomal Dominant Leukodystrophy: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
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:

30
leukodystrophy, demyelinating, adult-onset, autosomal dominant:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

MedlinePlus Genetics: 42 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.People with ADLD develop signs and symptoms of the condition in adulthood, typically in their forties or fifties. The first signs of the condition often involve problems with the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. These problems include difficulty with bowel and bladder function, a sharp drop in blood pressure upon standing (orthostatic hypotension), and erectile dysfunction in men. Rarely, people experience an inability to sweat (anhidrosis), which can lead to a dangerously high body temperature.In ADLD, movement difficulties often develop after the autonomic nervous system problems. Affected individuals can have muscle stiffness (spasticity) or weakness and involuntary rhythmic shaking, called intention tremor because it worsens during movement. People with ADLD often have difficulty coordinating movements (ataxia), including movements that involve judging distance or scale (dysmetria), such as picking up a distant object, and rapidly alternating movements (dysdiadochokinesis), including hand clapping or foot stomping. These movement problems usually first affect the legs, but as the condition worsens, the arms and eventually the face become involved. In some people with ADLD, the symptoms worsen during episodes of fever, infection, or exposure to heat. Due to difficulty walking and an unsteady gait, many affected individuals need a cane, walker, or wheelchair for assistance.Intelligence is usually unaffected; however, people who have had ADLD for a long time may have a decline in intellectual function (dementia). ADLD worsens slowly, and affected individuals usually survive 10 to 20 years after the onset of symptoms.

MalaCards based summary: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant, also known as adult-onset autosomal dominant demyelinating leukodystrophy, is related to lmnb1-related autosomal dominant leukodystrophy and leukodystrophy, and has symptoms including personality changes, muscle spasticity and cerebellar ataxia. An important gene associated with Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant is LMNB1 (Lamin B1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Cytoskeletal Signaling. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are muscle weakness and gait ataxia

OMIM®: 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

GARD: 19 A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.

Orphanet: 58 A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.

Wikipedia: 75 Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic... more...

Related Diseases for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Diseases related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 lmnb1-related autosomal dominant leukodystrophy 11.1
2 leukodystrophy 11.1
3 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
4 tremor 10.3
5 restrictive dermopathy 1 10.2 ZMPSTE24 LMNA
6 restrictive dermopathy 10.2 ZMPSTE24 LMNA
7 nonencapsulated sclerosing carcinoma 10.2 LMNB2 LMNB1 LMNA
8 mandibuloacral dysplasia with type a lipodystrophy 10.2 ZMPSTE24 LMNA
9 lethal restrictive dermopathy 10.2 ZMPSTE24 LMNA
10 lipodystrophy, familial partial, type 1 10.2 ZMPSTE24 LMNA
11 acroosteolysis 10.2 ZMPSTE24 LMNA
12 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.2 LMNA EMD
13 first-degree atrioventricular block 10.1 LMNA EMD
14 cortical dysplasia, complex, with other brain malformations 6 10.1 MARCHF3 LMNB1 C5orf63
15 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.1 LMNA EMD
16 cone-rod dystrophy 2 10.1
17 neuronal intranuclear inclusion disease 10.1
18 aceruloplasminemia 10.1
19 dopamine beta-hydroxylase deficiency 10.1
20 movement disease 10.1
21 paraplegia 10.1
22 rem sleep behavior disorder 10.1
23 hypoglycemia 10.1
24 primary orthostatic hypotension 10.1
25 hereditary neuropathies 10.1 PLP1 LMNA
26 acquired generalized lipodystrophy 10.1 ZMPSTE24 LMNA
27 myopathy, x-linked, with postural muscle atrophy 10.1 LMNA EMD
28 multiple sclerosis 10.1
29 optic atrophy 1 10.1
30 adult syndrome 10.1
31 muscular disease 10.1 LMNB2 LMNA EMD
32 complete generalized lipodystrophy 10.1 ZMPSTE24 LMNA
33 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 ZMPSTE24 LMNA EMD
34 hyperoxaluria, primary, type i 10.1 LMNB2 LMNB1 LBR
35 congenital generalized lipodystrophy 10.1 ZMPSTE24 LMNB2 LMNA
36 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.0 LMNB2 LMNB1 LMNA EMD
37 lipodystrophy, familial partial, type 3 10.0 ZMPSTE24 LMNA
38 muscle tissue disease 10.0 LMNB2 LMNB1 LMNA EMD
39 limb-girdle muscular dystrophy 10.0 LMNB2 LMNB1 LMNA EMD
40 cardiomyopathy, dilated, 1b 10.0 LMNA EMD
41 neuromuscular disease 10.0 LMNB2 LMNB1 LMNA EMD
42 primary hyperoxaluria 10.0 LMNB2 LMNB1 LMNA LBR
43 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.9
44 3-methylglutaconic aciduria, type iii 9.9
45 leber hereditary optic neuropathy, modifier of 9.9
46 optic nerve disease 9.9
47 neuromyelitis optica 9.9
48 hereditary optic neuropathy 9.9
49 impotence 9.9
50 demyelinating disease 9.9

Graphical network of the top 20 diseases related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:



Diseases related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Symptoms & Phenotypes for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Human phenotypes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:

58 30 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
2 gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002066
3 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
4 distal sensory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002936
5 atrophy/degeneration affecting the brainstem 58 30 Frequent (33%) Frequent (79-30%)
HP:0007366
6 atrophy of the spinal cord 58 30 Frequent (33%) Frequent (79-30%)
HP:0006827
7 abnormal auditory evoked potentials 58 30 Frequent (33%) Frequent (79-30%)
HP:0006958
8 autonomic bladder dysfunction 58 30 Very rare (1%) Frequent (79-30%)
HP:0005341
9 hyperintensity of cerebral white matter on mri 58 30 Frequent (33%) Frequent (79-30%)
HP:0030890
10 abnormality of somatosensory evoked potentials 58 30 Frequent (33%) Frequent (79-30%)
HP:0007377
11 abnormal cerebellar peduncle morphology 30 Frequent (33%) HP:0011931
12 clonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002169
13 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
14 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
15 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
16 constipation 58 30 Very rare (1%) Occasional (29-5%)
HP:0002019
17 hypothermia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002045
18 flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001371
19 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
20 aplasia/hypoplasia of the cerebellum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007360
21 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
22 dysmetria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001310
23 dysdiadochokinesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002075
24 aplasia/hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007370
25 impotence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000802
26 orthostatic hypotension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001278
27 aspiration pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011951
28 tetraparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002273
29 intention tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002080
30 urinary retention 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000016
31 anhidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000970
32 functional motor deficit 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004302
33 spastic gait 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002064
34 urinary urgency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000012
35 malnutrition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004395
36 head titubation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002599
37 temperature instability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005968
38 pseudobulbar signs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002200
39 eeg with generalized slow activity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010845
40 upper limb postural tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007351
41 impaired distal vibration sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006886
42 atrophy/degeneration affecting the cerebrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007369
43 decreased sweating due to autonomic dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007480
44 ataxia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001251
45 behavioral abnormality 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000708
46 sensorineural hearing impairment 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000407
47 dementia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000726
48 increased csf protein 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002922
49 bowel incontinence 30 Very rare (1%) HP:0002607
50 leukodystrophy 30 Very rare (1%) HP:0002415

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebellar ataxia
cerebellar signs
autonomic dysfunction
more
Neurologic Behavioral Psychiatric Manifestations:
depression
personality changes

Skin Nails Hair Skin:
decreased sweating due to autonomic dysfunction

Genitourinary External Genitalia Male:
impotence due to autonomic dysfunction

Laboratory Abnormalities:
patient cells have increased levels of lmnb1 mrna and protein

Head And Neck Eyes:
nystagmus

Cardiovascular Vascular:
orthostatic hypotension due to autonomic dysfunction

Abdomen Gastrointestinal:
abnormal bowel regulation due to autonomic dysfunction

Genitourinary Bladder:
abnormal bladder regulation due to autonomic dysfunction

Clinical features from OMIM®:

169500 (Updated 08-Dec-2022)

UMLS symptoms related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:


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

MGI Mouse Phenotypes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 EMD GRAMD2B LBR LMNA LMNB1 LMNB2
2 muscle MP:0005369 9.7 EMD LMNA LMNB1 LMNB2 PLP1 RCE1
3 integument MP:0010771 9.23 LBR LMNA LMNB1 LMNB2 MARCHF3 RCE1

Drugs & Therapeutics for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369

Search NIH Clinical Center for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Genetic Tests for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Genetic tests related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy 28 LMNB1

Anatomical Context for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Organs/tissues related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:

MalaCards : Eye, Spinal Cord, Cerebellum, Globus Pallidus, Liver, Thalamus, Brain

Publications for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Articles related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. 62 57 5
23649844 2013
2
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. 62 57 5
21909802 2012
3
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. 62 57 5
21225301 2011
4
Lamin B1 duplications cause autosomal dominant leukodystrophy. 62 57 5
16951681 2006
5
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. 57 5
19151023 2009
6
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 57
25701871 2015
7
Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder. 62 57
23243074 2013
8
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 62 57
19961535 2010
9
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. 62 57
18945794 2009
10
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. 62 57
10749986 2000
11
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. 62 57
8042923 1994
12
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. 57
32910914 2020
13
LMNB1 mutation causes cerebellar involvement and a genome instability defect. 57
28716252 2017
14
Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome. 57
16847948 2006
15
The dominant form of vanishing white matter-like leukoencephalopathy represents autosomal dominant leukodystrophy. 57
16437562 2006
16
Dominant form of vanishing white matter-like leukoencephalopathy. 57
16047349 2005
17
Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family. 57
9018034 1997
18
Adrenergic dysfunction in hereditary adult-onset leukodystrophy. 57
3302762 1987
19
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. 57
6472420 1984
20
[Genetic contribution to the problem of the late form of Pelizaeus-Merzbacher disease]. 57
5869474 1964
21
Symptom Expression Across Voiced Speech Sounds in Adductor Laryngeal Dystonia. 62
36424240 2022
22
Spectral Aggregate of the High-Passed Fundamental Frequency and Its Relationship to the Primary Acoustic Features of Adductor Laryngeal Dystonia. 62
36198059 2022
23
Abnormal Laryngopharyngeal Sensation in Adductor Laryngeal Dystonia Compared to Healthy Controls. 62
36271910 2022
24
Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families. 62
35419641 2022
25
Globus Pallidus Interna and Ventral Intermediate Nucleus of the Thalamus Deep Brain Stimulation for Adductor Laryngeal Dystonia: a Case Report of Blinded Analyses of Objective Voice Outcomes in 2 Patients. 62
35138294 2022
26
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. 62
35247231 2022
27
Acute-on-chronic liver failure: Epidemiology, prognosis, and outcome of a multicenter study in Thai population. 62
35355669 2022
28
Molecular diversity of liquid digestate from anaerobic digestion plants for biogenic waste. 62
34838627 2022
29
Effects of low-frequency repetitive transcranial magnetic stimulation in adductor laryngeal dystonia: a safety, feasibility, and pilot study. 62
34859288 2022
30
Influence of Phonatory Break Duration and Pause Time on Auditory-Perceptual Ratings of Speech Aceptability and Listener Comfort in Adductor-Type Laryngeal Dystonia. 62
34887140 2021
31
Hepatitis C and hepatitis C-related advanced liver disease hospitalisation trends before and after the Strategic Plan for Tackling Hepatitis C in the National Health System. 62
32658010 2021
32
Lamin B1 Accumulation's Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the Astrocytes. 62
34685544 2021
33
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation. 62
33517539 2021
34
LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family. 62
34447008 2021
35
Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes. 62
33034697 2021
36
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy. 62
33252173 2021
37
Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy. 62
32349647 2020
38
Acoustic Model of Perceived Overall Severity of Dysphonia in Adductor-Type Laryngeal Dystonia. 62
32692616 2020
39
PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein Levels. 62
32290388 2020
40
Dynamic Lamin B1-Gene Association During Oligodendrocyte Progenitor Differentiation. 62
32020491 2020
41
The Radiologic and Clinical Outcomes of Oblique Lateral Interbody Fusion for Correction of Adult Degenerative Lumbar Deformity. 62
31303665 2019
42
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy. 62
31143934 2019
43
LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature. 62
31695592 2019
44
Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina. 62
30949481 2019
45
Control of progression towards liver fibrosis and hepatocellular carcinoma by SOCS3 polymorphisms in chronic HCV-infected patients. 62
30172885 2018
46
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy. 62
30697589 2018
47
[Functions of lamin B1 and the new progress of its roles in neurological diseases and tumors]. 62
30499270 2018
48
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD). 62
29262292 2018
49
Genetic variations in toll-like receptors 7 and 8 modulate natural hepatitis C outcomes and liver disease progression. 62
28752959 2018
50
Adulthood leukodystrophies. 62
29302065 2018

Variations for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

ClinVar genetic disease variations for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:

5 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNB1 LMNB1, DUP, CHR5:126,102,443-126,199,753 SRO, GRCh37 DUP Pathogenic
14476 GRCh37:
GRCh38:
2 LMNB1 and overlap with 5 gene(s) DEL Pathogenic
1342147 GRCh37:
GRCh38: 5:126508361-126769360
3 LMNB1 NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) SNV Conflicting Interpretations Of Pathogenicity
350615 rs142016804 GRCh37: 5:126145905-126145905
GRCh38: 5:126810213-126810213
4 LMNB1 NM_005573.4(LMNB1):c.360-8T>C SNV Uncertain Significance
1032338 rs376081850 GRCh37: 5:126140460-126140460
GRCh38: 5:126804768-126804768
5 LMNB1 NM_005573.4(LMNB1):c.*54A>T SNV Uncertain Significance
905851 rs370551700 GRCh37: 5:126172010-126172010
GRCh38: 5:126836318-126836318
6 LMNB1 NM_005573.4(LMNB1):c.1387-3T>C SNV Uncertain Significance
350618 rs886059859 GRCh37: 5:126158470-126158470
GRCh38: 5:126822778-126822778
7 LMNB1 NM_005573.4(LMNB1):c.-159C>G SNV Uncertain Significance
350610 rs886059857 GRCh37: 5:126113042-126113042
GRCh38: 5:126777350-126777350
8 LMNB1 NM_005573.4(LMNB1):c.775C>T (p.Leu259=) SNV Uncertain Significance
907307 rs575662572 GRCh37: 5:126146004-126146004
GRCh38: 5:126810312-126810312
9 LMNB1 NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) SNV Uncertain Significance
907308 rs374998378 GRCh37: 5:126147504-126147504
GRCh38: 5:126811812-126811812
10 LMNB1 NM_005573.4(LMNB1):c.987T>C (p.Ala329=) SNV Uncertain Significance
907309 rs1751792373 GRCh37: 5:126154661-126154661
GRCh38: 5:126818969-126818969
11 LMNB1 NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) SNV Uncertain Significance
907310 rs994236399 GRCh37: 5:126154684-126154684
GRCh38: 5:126818992-126818992
12 LMNB1 NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) SNV Uncertain Significance
931753 rs1205547665 GRCh37: 5:126140519-126140519
GRCh38: 5:126804827-126804827
13 LMNB1 NM_005573.4(LMNB1):c.1161-6A>G SNV Uncertain Significance
976611 rs765920630 GRCh37: 5:126156596-126156596
GRCh38: 5:126820904-126820904
14 LMNB1 NM_005573.4(LMNB1):c.*629G>A SNV Uncertain Significance
350626 rs761208282 GRCh37: 5:126172585-126172585
GRCh38: 5:126836893-126836893
15 LMNB1 NM_005573.4(LMNB1):c.*629G>C SNV Uncertain Significance
350627 rs761208282 GRCh37: 5:126172585-126172585
GRCh38: 5:126836893-126836893
16 LMNB1 NM_005573.4(LMNB1):c.*189T>G SNV Uncertain Significance
905852 rs1752249694 GRCh37: 5:126172145-126172145
GRCh38: 5:126836453-126836453
17 LMNB1 NM_005573.4(LMNB1):c.*270T>C SNV Uncertain Significance
905853 rs1021872186 GRCh37: 5:126172226-126172226
GRCh38: 5:126836534-126836534
18 LMNB1 NM_005573.4(LMNB1):c.*284T>G SNV Uncertain Significance
905854 rs550205958 GRCh37: 5:126172240-126172240
GRCh38: 5:126836548-126836548
19 LMNB1 NM_005573.4(LMNB1):c.-76G>T SNV Uncertain Significance
906293 rs1371898314 GRCh37: 5:126113125-126113125
GRCh38: 5:126777433-126777433
20 LMNB1 NM_005573.4(LMNB1):c.*301T>C SNV Uncertain Significance
906362 rs960666703 GRCh37: 5:126172257-126172257
GRCh38: 5:126836565-126836565
21 LMNB1 NM_005573.4(LMNB1):c.*631G>A SNV Uncertain Significance
906363 rs569902214 GRCh37: 5:126172587-126172587
GRCh38: 5:126836895-126836895
22 LMNB1 NM_005573.4(LMNB1):c.*634A>G SNV Uncertain Significance
906364 rs1382551348 GRCh37: 5:126172590-126172590
GRCh38: 5:126836898-126836898
23 LMNB1 NM_005573.4(LMNB1):c.*640G>A SNV Uncertain Significance
906365 rs1294635743 GRCh37: 5:126172596-126172596
GRCh38: 5:126836904-126836904
24 LMNB1 NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) SNV Likely Benign
350617 rs746416284 GRCh37: 5:126156631-126156631
GRCh38: 5:126820939-126820939
25 LMNB1 NM_005573.4(LMNB1):c.672A>G (p.Glu224=) SNV Likely Benign
350614 rs372510778 GRCh37: 5:126145901-126145901
GRCh38: 5:126810209-126810209
26 LMNB1 NM_005573.4(LMNB1):c.*518T>C SNV Benign
350625 rs185784874 GRCh37: 5:126172474-126172474
GRCh38: 5:126836782-126836782
27 LMNB1 NM_005573.4(LMNB1):c.-298G>T SNV Benign
350609 rs111865788 GRCh37: 5:126112903-126112903
GRCh38: 5:126777211-126777211
28 LMNB1 NM_005573.4(LMNB1):c.*503A>T SNV Benign
350624 rs181936031 GRCh37: 5:126172459-126172459
GRCh38: 5:126836767-126836767
29 LMNB1 NM_005573.4(LMNB1):c.*239C>T SNV Benign
350623 rs1051644 GRCh37: 5:126172195-126172195
GRCh38: 5:126836503-126836503
30 LMNB1 NM_005573.4(LMNB1):c.*18C>T SNV Benign
66612 rs2230151 GRCh37: 5:126171974-126171974
GRCh38: 5:126836282-126836282
31 LMNB1 NM_005573.4(LMNB1):c.*15T>C SNV Benign
350621 rs140296800 GRCh37: 5:126171971-126171971
GRCh38: 5:126836279-126836279
32 LMNB1 NM_005573.4(LMNB1):c.-314C>T SNV Benign
350608 rs561989552 GRCh37: 5:126112887-126112887
GRCh38: 5:126777195-126777195
33 LMNB1 NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) SNV Benign
907306 rs771251880 GRCh37: 5:126145929-126145929
GRCh38: 5:126810237-126810237
34 LMNB1 NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) SNV Benign
976612 rs150504258 GRCh37: 5:126156619-126156619
GRCh38: 5:126820927-126820927
35 LMNB1 NM_005573.4(LMNB1):c.*691A>G SNV Benign
350628 rs77429268 GRCh37: 5:126172647-126172647
GRCh38: 5:126836955-126836955
36 LMNB1 NM_005573.4(LMNB1):c.*43T>C SNV Benign
350622 rs1051643 GRCh37: 5:126171999-126171999
GRCh38: 5:126836307-126836307
37 LMNB1 NM_005573.4(LMNB1):c.432G>A (p.Ser144=) SNV Benign
129486 rs34224885 GRCh37: 5:126140540-126140540
GRCh38: 5:126804848-126804848
38 LMNB1 NM_005573.4(LMNB1):c.141C>T (p.Ile47=) SNV Benign
350611 rs755177047 GRCh37: 5:126113341-126113341
GRCh38: 5:126777649-126777649
39 LMNB1 NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) SNV Benign
66613 rs36105360 GRCh37: 5:126161690-126161690
GRCh38: 5:126825998-126825998
40 LMNB1 NM_005573.4(LMNB1):c.279C>T (p.Leu93=) SNV Benign
350612 rs74362780 GRCh37: 5:126113479-126113479
GRCh38: 5:126777787-126777787
41 LMNB1 NM_005573.4(LMNB1):c.852T>C (p.Ser284=) SNV Benign
66615 rs61726489 GRCh37: 5:126147503-126147503
GRCh38: 5:126811811-126811811
42 LMNB1 NM_005573.4(LMNB1):c.642+10T>C SNV Benign
350613 rs200907573 GRCh37: 5:126141398-126141398
GRCh38: 5:126805706-126805706
43 LMNB1 NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) SNV Benign
350620 rs6875053 GRCh37: 5:126161748-126161748
GRCh38: 5:126826056-126826056
44 LMNB1 NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) SNV Benign
66614 rs3749830 GRCh37: 5:126140522-126140522
GRCh38: 5:126804830-126804830
45 LMNB1 NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) SNV Benign
350616 rs886059858 GRCh37: 5:126154697-126154697
GRCh38: 5:126819005-126819005
46 LMNB1 NM_005573.4(LMNB1):c.1492-11G>T SNV Benign
350619 rs201050320 GRCh37: 5:126161669-126161669
GRCh38: 5:126825977-126825977
47 LMNB1 NM_005573.4(LMNB1):c.60G>A (p.Thr20=) SNV Benign
906294 rs755396585 GRCh37: 5:126113260-126113260
GRCh38: 5:126777568-126777568

Expression for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Search GEO for disease gene expression data for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant.

Pathways for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Pathways related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 LMNB2 LMNB1 LMNA EMD
2 12.25 LMNB2 LMNB1 LMNA EMD
3
Show member pathways
12.2 LMNB1 LMNA LBR EMD
4
Show member pathways
11.97 YY1 LMNB2 LMNB1 LMNA
5
Show member pathways
11.56 LMNB1 LBR EMD
6
Show member pathways
11.51 ZMPSTE24 LMNA EMD
7
Show member pathways
11.16 LMNB2 LMNB1 LMNA
8 10.97 LMNB2 LBR
9 10.87 ZMPSTE24 LMNB2 LMNB1 LMNA
10
Show member pathways
10.6 ZMPSTE24 LMNB2 LMNB1 LMNA
11 9.92 RCE1 LMNB2 LMNB1 LMNA

GO Terms for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

Cellular components related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.96 LMNB2 LMNB1 LMNA LBR EMD
2 nuclear inner membrane GO:0005637 9.76 ZMPSTE24 LMNB1 LBR EMD
3 lamin filament GO:0005638 9.62 LMNB1 LMNA
4 nuclear lamina GO:0005652 9.43 LMNB2 LMNB1 LMNA
5 nuclear envelope GO:0005635 9.36 ZMPSTE24 LMNB2 LMNB1 LMNA LBR EMD

Biological processes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterochromatin formation GO:0031507 9.85 LMNB2 LMNB1 LMNA
2 nuclear migration GO:0007097 9.73 LMNB2 LMNB1 LMNA
3 protein localization to nuclear envelope GO:0090435 9.63 LMNB2 LMNB1 LMNA
4 CAAX-box protein processing GO:0071586 9.62 ZMPSTE24 RCE1
5 nuclear pore localization GO:0051664 9.43 LMNB2 LMNB1 LMNA
6 nuclear envelope organization GO:0006998 9.23 ZMPSTE24 LMNB2 LMNB1 LMNA

Sources for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

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
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