Lmnb1-Related Autosomal Dominant Leukodystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

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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

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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
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:

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Symptoms & Phenotypes for Lmnb1-Related Autosomal Dominant Leukodystrophy

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Drugs & Therapeutics for Lmnb1-Related Autosomal Dominant Leukodystrophy

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

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Genetic Tests for Lmnb1-Related Autosomal Dominant Leukodystrophy

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Anatomical Context for Lmnb1-Related Autosomal Dominant Leukodystrophy

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

MalaCards : Medulla Oblongata, Spinal Cord, Brain

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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	Mezaki N...Ikeuchi T	30697589	2018
2	An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis. ⁶² ²⁴	Dai Y...Jin L	28769756	2017
3	LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course. ⁶² ²⁴	Finnsson J...Raininko R	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	Giorgio E...Brusco A	25701871	2015
5	MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. ⁶² ²⁴	Sundblom J...Raininko R	18945794	2009
6	Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23. ⁶² ²⁴	Marklund L...Dahl N	16823806	2006
7	MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. ⁶² ²⁴	Melberg A...Raininko R	16611789	2006
8	Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes. ²⁴	Ratti S...Ramazzotti G	33034697	2021
9	De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. ²⁴	Cristofoli F...Van Esch H	32910914	2020
10	Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. ²⁴	Cousyn L...Nadjar Y	31337714	2019
11	Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. ²⁴	Nmezi B...Padiath QS	30842973	2019
12	LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature. ²⁴	Zhang Y...Lu H	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	Lo Martire V...Silvani A	29262292	2018
14	Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia. ²⁴	Sandoval-Rodriguez V...Zuniga-Ramirez C	29055464	2017
15	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
16	Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression. ²⁴	Rolyan H...Padiath QS	26311780	2015
17	Messenger RNA processing is altered in autosomal dominant leukodystrophy. ²⁴	Bartoletti-Stella A...Capellari S	25637521	2015
18	Vitamin B12 deficiency: an important reversible co-morbidity in neuropsychiatric manifestations. ²⁴	Issac TG...Chandra SR	25722508	2015
19	Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts. ²⁴	Ferrera D...Gasparini L	24858279	2014
20	Guidelines for the diagnosis and treatment of cobalamin and folate disorders. ²⁴	Devalia V...British Committee for Standards in Haematology	24942828	2014
21	Nuclear envelope: connecting structural genome organization to regulation of gene expression. ²⁴	Stancheva I...Schirmer EC	24563350	2014
22	Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. ²⁴	Debs R...Sedel F	23197103	2013
23	Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. ²⁴	Giorgio E...Padiath QS	23649844	2013
24	Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant. ²⁴	Potic A...Taroni F	23681646	2013
25	Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. ²⁴	Heng MY...Fu YH	23676464	2013
26	Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy. ²⁴	Columbaro M...Lattanzi G	23261988	2013
27	Nuclear lamins in the brain - new insights into function and regulation. ²⁴	Jung HJ...Fong LG	23065386	2013
28	Nuclear lamin functions and disease. ²⁴	Butin-Israeli V...Goldman RD	22795640	2012
29	A patient with a rare leukodystrophy related to lamin B1 duplication. ²⁴	Molloy A...Sweeney B	22973660	2012
30	Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. ²⁴	Dos Santos MM...Grau AJ	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	Rabhi S...Bono W	21524288	2011
32	Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. ²⁴	Schuster J...Dahl N	21225301	2011
33	Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. ²⁴	Guaraldi P...Cortelli P	20719577	2011
34	Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. ²⁴	Padiath QS...Fu YH	20816241	2010
35	A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. ²⁴	Brussino A...Brusco A	19151023	2009
36	A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. ²⁴	Meijer IA...Rouleau GA	19001169	2008
37	Lamin B1 duplications cause autosomal dominant leukodystrophy. ²⁴	Padiath QS...Fu YH	16951681	2006
38	Multiple sclerosis. ²⁴	Noseworthy JH...Weinshenker BG	11006371	2000
39	Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. ²⁴	Coffeen CM...Fu YH	10749986	2000
40	MRI and CT in an autosomal-dominant, adult-onset leukodystrophy. ²⁴	Bergui M...Quattrocolo G	9225322	1997
41	Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family. ²⁴	Quattrocolo G...Bergamini L	9018034	1997
42	Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. ²⁴	Schwankhaus JD...McFarland H	8042923	1994
43	Computed tomography and magnetic resonance imaging in adult-onset leukodystrophy. ²⁴	Schwankhaus JD...McFarland H	3415518	1988
44	Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. ²⁴	Eldridge R...McFarland H	6472420	1984
45	New diagnostic criteria for multiple sclerosis: guidelines for research protocols. ²⁴	Poser CM...Tourtellotte WW	6847134	1983
46	Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. ⁶²	Borja N...Tekin M	35247231	2022
47	LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family. ⁶²	Bijarnia-Mahay S...Verma IC	34447008	2021
48	Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy. ⁶²	Giorgio E...Brusco A	31143934	2019
49	Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. ⁶²	Finnsson J...Raininko R	30192380	2019
50	Adulthood leukodystrophies. ⁶²	Kohler W...Vanderver A	29302065	2018

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Genes for Lmnb1-Related Autosomal Dominant Leukodystrophy

Genes related to Lmnb1-Related Autosomal Dominant Leukodystrophy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LMNB1	Lamin B1	Protein Coding	8.15	GeneCards inferred via : Publications (show sections)

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Variations for Lmnb1-Related Autosomal Dominant Leukodystrophy

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Expression for Lmnb1-Related Autosomal Dominant Leukodystrophy

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

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Pathways for Lmnb1-Related Autosomal Dominant Leukodystrophy

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GO Terms for Lmnb1-Related Autosomal Dominant Leukodystrophy

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Sources for Lmnb1-Related Autosomal Dominant Leukodystrophy

¹ BitterDB

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³ Cell Signaling Technology

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²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

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³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LMN017 MIFTS: 16	Lmnb1-Related Autosomal Dominant Leukodystrophy Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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