LBSL
MCID: LKN026
MIFTS: 40

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

MalaCards integrated aliases for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

Name: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 57 43 72 70
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 57 25 20 36 29 13 6
Lbsl 57 25 20 43 58 72
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome 20 58 29 6
Mitochondrial Aspartyl-Trna Synthetase Deficiency 57 25 20 43
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-Lactate Elevation Syndrome 20 58
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement - Lactate Elevation 20
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement - High Lactate 20
Leukoencephalopathy, Brain Stem and Spinal Cord Involvement, Lactate Elevation 39

Characteristics:

Orphanet epidemiological data:

58
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset between age 2 and 15 years
one patient with episodic ataxia and later onset has been reported (as of june 2010)


HPO:

31
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

MedlinePlus Genetics : 43 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses.Most affected individuals begin to develop movement problems during childhood or adolescence. However, in some individuals, these problems do not develop until adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). In addition, affected individuals lose the ability to sense the position of their limbs or vibrations with their limbs. These movement and sensation problems affect the legs more than the arms, making walking difficult. Most affected individuals eventually require wheelchair assistance, sometimes as early as their teens, although the age varies.People with LBSL can have other signs and symptoms of the condition. Some affected individuals develop recurrent seizures (epilepsy), speech difficulties (dysarthria), learning problems, or mild deterioration of mental functioning. Some people with this disorder are particularly vulnerable to severe complications following minor head trauma, which may trigger a loss of consciousness, other reversible neurological problems, or fever.Distinct changes in the brains of people with LBSL can be seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts of the white matter of the brain and specific regions (called tracts) within the brainstem and spinal cord, especially the pyramidal tract and the dorsal column. In addition, most affected individuals have a high level of a substance called lactate in the white matter of the brain, which is identified using another test called magnetic resonance spectroscopy (MRS).

MalaCards based summary : Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, also known as leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, is related to ataxia and polyneuropathy, adult-onset and leukodystrophy, and has symptoms including ataxia, tremor and muscle weakness. An important gene associated with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is DARS2 (Aspartyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include spinal cord, brain and eye, and related phenotypes are abnormality of the dorsal column of the spinal cord and dysarthria

GARD : 20 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy ; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration ( mutation ). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.

OMIM® : 57 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. (611105) (Updated 05-Apr-2021)

KEGG : 36 Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) is an autosomal recessive juvenile to adult-onset white matter disorder presenting with slowly progressive pyramidal, cerebellar and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS).

UniProtKB/Swiss-Prot : 72 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.

GeneReviews: NBK43417

Related Diseases for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Diseases related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.5
2 leukodystrophy 10.5
3 scoliosis 10.4
4 chickenpox 10.4
5 autosomal recessive disease 10.4
6 spastic paraparesis 10.4
7 spasticity 10.4
8 leigh syndrome 9.9
9 hypomyelination with brainstem and spinal cord involvement and leg spasticity 9.9
10 lactic acidosis 9.9
11 peripheral nervous system disease 9.9
12 axonal neuropathy 9.9
13 cataract 9.9
14 neuropathy 9.9
15 pathologic nystagmus 9.9
16 headache 9.9
17 hypotonia 9.9
18 tremor 9.9

Graphical network of the top 20 diseases related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:



Diseases related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Symptoms & Phenotypes for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Human phenotypes related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dorsal column of the spinal cord 58 31 hallmark (90%) Very frequent (99-80%) HP:0011397
2 dysarthria 58 31 occasional (7.5%) Frequent (79-30%) HP:0001260
3 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
4 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
5 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
6 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
7 progressive inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002505
8 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
9 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
10 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
11 spastic ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002497
12 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
13 dysmyelinating leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006978
14 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
15 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
16 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
17 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
18 impaired distal proprioception 58 31 occasional (7.5%) Occasional (29-5%) HP:0006858
19 increased csf lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002490
20 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
21 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
22 leg muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008969
23 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
24 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
25 cognitive impairment 31 occasional (7.5%) HP:0100543
26 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
27 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
28 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
29 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
30 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
31 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
32 flexion contracture 58 31 very rare (1%) Very rare (<4-1%) HP:0001371
33 slurred speech 58 31 very rare (1%) Very rare (<4-1%) HP:0001350
34 absent speech 58 31 very rare (1%) Very rare (<4-1%) HP:0001344
35 hypoplasia of the corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0002079
36 cerebellar atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0001272
37 cerebral atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002059
38 polyneuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001271
39 generalized limb muscle atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0009055
40 truncal ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0002078
41 spastic/hyperactive bladder 58 31 very rare (1%) Very rare (<4-1%) HP:0005340
42 slow saccadic eye movements 58 31 very rare (1%) Very rare (<4-1%) HP:0000514
43 impaired pursuit initiation and maintenance 58 31 very rare (1%) Very rare (<4-1%) HP:0007668
44 seizure 31 very rare (1%) HP:0001250
45 hypotonia 31 very rare (1%) HP:0001252
46 seizures 58 Very rare (<4-1%)
47 spasticity 31 HP:0001257
48 hyperreflexia 31 HP:0001347
49 neurological speech impairment 58 Frequent (79-30%)
50 ataxia 31 HP:0001251

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
tremor
delayed motor development
more
Muscle Soft Tissue:
muscle weakness
muscle atrophy

Skeletal:
joint contractures (with age)

Head And Neck Eyes:
nystagmus

Neurologic Peripheral Nervous System:
hyporeflexia
peripheral axonal neuropathy
decreased proprioception and vibration sense

Clinical features from OMIM®:

611105 (Updated 05-Apr-2021)

UMLS symptoms related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:


ataxia; tremor; muscle weakness; muscle spasticity

Drugs & Therapeutics for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation Recruiting NCT03624374

Search NIH Clinical Center for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Genetic Tests for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Genetic tests related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

# Genetic test Affiliating Genes
1 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome 29 DARS2
2 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 29

Anatomical Context for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

MalaCards organs/tissues related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

40
Spinal Cord, Brain, Eye, Cerebellum, Skeletal Muscle

Publications for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Articles related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 25 61 6 57
17384640 2007
2
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. 25 57 6
21749991 2011
3
A novel homozygous mutation of DARS2 may cause a severe LBSL variant. 25 57 6
21815884 2011
4
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. 25 6 57
19592391 2010
5
Early-onset LBSL: how severe does it get? 25 6 61
23065766 2012
6
Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. 25 57
15002045 2004
7
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings. 61 6
24407472 2014
8
Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up. 25 61
32925487 2020
9
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report. 61 25
30352563 2018
10
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. 25 61
28017220 2017
11
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation. 25 61
29138691 2017
12
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. 61 25
26327357 2015
13
A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings. 6
24005482 2014
14
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. 25 61
24566671 2014
15
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients. 6
23652419 2013
16
Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis. 6
22843165 2012
17
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. 25 61
18619624 2008
18
Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. 57
16788019 2006
19
Five new cases of a recently described leukoencephalopathy with high brain lactate. 57
15326244 2004
20
A New DARS2 Mutation Discovered in an Adult Patient. 25
32308605 2020
21
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. 25
31814314 2020
22
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. 25
31213485 2019
23
Diagnosis, prognosis, and treatment of leukodystrophies. 25
31307818 2019
24
Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood. 25
30770271 2019
25
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene. 25
30635318 2019
26
Hereditary ataxias and paraparesias: clinical and genetic update. 25
29847346 2018
27
Mitochondrial ataxias. 25
29891055 2018
28
Activation of Cerebral X-linked Adrenoleukodystrophy After Head Trauma. 25
28534457 2017
29
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
30
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 25
25817015 2015
31
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. 25
23643384 2013
32
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. 25
22677571 2013
33
Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. 25
22006980 2011
34
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients. 25
17665025 2007
35
Vanishing white matter disease. 25
16632312 2006
36
Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. 25
15779907 2005
37
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. 25
12557294 2003
38
MRI in vitamin B12 deficiency myelopathy. 25
10068811 1999
39
Crystal structure of a prokaryotic aspartyl tRNA-synthetase. 25
8045252 1994
40
Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children. 61
33384291 2021
41
Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. 61
33182419 2020
42
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia. 61
32766765 2020
43
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption. 61
31887305 2020
44
Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). 61
31671122 2019
45
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations. 61
30006346 2018
46
The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. 61
30325133 2018
47
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells. 61
28985337 2017
48
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI. 61
24558666 2014
49
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. 61
23216004 2013
50
Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: a case report and literature review. 61
23644316 2013

Variations for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

ClinVar genetic disease variations for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DARS2 NM_018122.5(DARS2):c.1876C>G (p.Leu626Val) SNV Pathogenic 1058 rs121918205 GRCh37: 1:173826781-173826781
GRCh38: 1:173857643-173857643
2 DARS2 NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) SNV Pathogenic 1059 rs121918206 GRCh37: 1:173807344-173807344
GRCh38: 1:173838206-173838206
3 DARS2 NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) SNV Pathogenic 1060 rs121918207 GRCh37: 1:173807345-173807345
GRCh38: 1:173838207-173838207
4 DARS2 NM_018122.5(DARS2):c.133A>G (p.Ser45Gly) SNV Pathogenic 1063 rs121918209 GRCh37: 1:173795830-173795830
GRCh38: 1:173826692-173826692
5 DARS2 NM_018122.5(DARS2):c.536G>A (p.Arg179His) SNV Pathogenic 1064 rs121918210 GRCh37: 1:173802557-173802557
GRCh38: 1:173833419-173833419
6 DARS2 NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) SNV Pathogenic 1065 rs121918211 GRCh37: 1:173819546-173819546
GRCh38: 1:173850408-173850408
7 DARS2 NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe) SNV Pathogenic 1066 rs121918212 GRCh37: 1:173826742-173826742
GRCh38: 1:173857604-173857604
8 DARS2 NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln) SNV Pathogenic 1067 rs121918213 GRCh37: 1:173826782-173826782
GRCh38: 1:173857644-173857644
9 DARS2 NM_018122.5(DARS2):c.228-22T>A SNV Pathogenic 30862 rs1557853625 GRCh37: 1:173797449-173797449
GRCh38: 1:173828311-173828311
10 DARS2 NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) SNV Pathogenic 30863 rs200670286 GRCh37: 1:173826730-173826730
GRCh38: 1:173857592-173857592
11 DARS2 NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) SNV Pathogenic 1060 rs121918207 GRCh37: 1:173807345-173807345
GRCh38: 1:173838207-173838207
12 DARS2 NM_018122.5(DARS2):c.20T>A (p.Leu7Ter) SNV Pathogenic 522973 rs1553200766 GRCh37: 1:173794387-173794387
GRCh38: 1:173825249-173825249
13 DARS2 NM_018122.5(DARS2):c.1196del (p.Ile399fs) Deletion Pathogenic 801580 rs1571995707 GRCh37: 1:173819469-173819469
GRCh38: 1:173850331-173850331
14 DARS2 NM_018122.5(DARS2):c.492+2T>C SNV Pathogenic 1062 rs142433332 GRCh37: 1:173800770-173800770
GRCh38: 1:173831632-173831632
15 DARS2 NM_018122.5(DARS2):c.492+2T>C SNV Pathogenic 1062 rs142433332 GRCh37: 1:173800770-173800770
GRCh38: 1:173831632-173831632
16 DARS2 NM_018122.5(DARS2):c.396+2T>G SNV Pathogenic 449386 rs759123043 GRCh37: 1:173799901-173799901
GRCh38: 1:173830763-173830763
17 DARS2 NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) SNV Pathogenic 1061 rs121918208 GRCh37: 1:173800731-173800731
GRCh38: 1:173831593-173831593
18 DARS2 NM_018122.5(DARS2):c.228-21_228-20delinsC Indel Pathogenic 1057 rs1553201258 GRCh37: 1:173797450-173797451
GRCh38: 1:173828312-173828313
19 DARS2 NM_018122.5(DARS2):c.563G>A (p.Arg188Gln) SNV Likely pathogenic 694538 rs182811621 GRCh37: 1:173802584-173802584
GRCh38: 1:173833446-173833446
20 DARS2 NM_018122.5(DARS2):c.228-17C>G SNV Likely pathogenic 801578 rs754752982 GRCh37: 1:173797454-173797454
GRCh38: 1:173828316-173828316
21 DARS2 NM_018122.5(DARS2):c.493-1G>C SNV Likely pathogenic 873471 GRCh37: 1:173802513-173802513
GRCh38: 1:173833375-173833375
22 DARS2 NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) SNV Likely pathogenic 434896 rs1209550754 GRCh37: 1:173797502-173797502
GRCh38: 1:173828364-173828364
23 DARS2 NM_018122.5(DARS2):c.1191+1G>C SNV Uncertain significance 632091 rs754063468 GRCh37: 1:173814430-173814430
GRCh38: 1:173845292-173845292
24 DARS2 , CENPL NM_018122.5(DARS2):c.-522G>C SNV Uncertain significance 293812 rs886045585 GRCh37: 1:173793846-173793846
GRCh38: 1:173824708-173824708
25 DARS2 NM_018122.5(DARS2):c.*168C>T SNV Uncertain significance 293831 rs550840346 GRCh37: 1:173827011-173827011
GRCh38: 1:173857873-173857873
26 DARS2 NM_018122.5(DARS2):c.1182T>C (p.His394=) SNV Uncertain significance 293824 rs569842479 GRCh37: 1:173814420-173814420
GRCh38: 1:173845282-173845282
27 DARS2 NM_018122.5(DARS2):c.834T>C (p.Phe278=) SNV Uncertain significance 293822 rs117574607 GRCh37: 1:173807391-173807391
GRCh38: 1:173838253-173838253
28 DARS2 NM_018122.5(DARS2):c.*152A>C SNV Uncertain significance 873686 GRCh37: 1:173826995-173826995
GRCh38: 1:173857857-173857857
29 DARS2 NM_018122.5(DARS2):c.*587G>A SNV Uncertain significance 873687 GRCh37: 1:173827430-173827430
GRCh38: 1:173858292-173858292
30 DARS2 NM_018122.5(DARS2):c.*644G>A SNV Uncertain significance 873688 GRCh37: 1:173827487-173827487
GRCh38: 1:173858349-173858349
31 DARS2 , CENPL NM_018122.5(DARS2):c.-543C>T SNV Uncertain significance 874571 GRCh37: 1:173793825-173793825
GRCh38: 1:173824687-173824687
32 DARS2 , CENPL NM_018122.5(DARS2):c.-488G>C SNV Uncertain significance 874572 GRCh37: 1:173793880-173793880
GRCh38: 1:173824742-173824742
33 DARS2 NM_018122.5(DARS2):c.-219C>T SNV Uncertain significance 874573 GRCh37: 1:173794149-173794149
GRCh38: 1:173825011-173825011
34 DARS2 NM_018122.5(DARS2):c.-147A>G SNV Uncertain significance 874574 GRCh37: 1:173794221-173794221
GRCh38: 1:173825083-173825083
35 DARS2 NM_018122.5(DARS2):c.228-13C>G SNV Uncertain significance 875497 GRCh37: 1:173797458-173797458
GRCh38: 1:173828320-173828320
36 DARS2 NM_018122.5(DARS2):c.228-10C>G SNV Uncertain significance 875498 GRCh37: 1:173797461-173797461
GRCh38: 1:173828323-173828323
37 DARS2 NM_018122.5(DARS2):c.228-10C>T SNV Uncertain significance 875499 GRCh37: 1:173797461-173797461
GRCh38: 1:173828323-173828323
38 DARS2 NM_018122.5(DARS2):c.1305A>T (p.Glu435Asp) SNV Uncertain significance 876555 GRCh37: 1:173819578-173819578
GRCh38: 1:173850440-173850440
39 DARS2 NM_018122.5(DARS2):c.1390G>C (p.Glu464Gln) SNV Uncertain significance 876556 GRCh37: 1:173822532-173822532
GRCh38: 1:173853394-173853394
40 DARS2 NM_018122.5(DARS2):c.1588G>A (p.Val530Ile) SNV Uncertain significance 876557 GRCh37: 1:173822957-173822957
GRCh38: 1:173853819-173853819
41 DARS2 NM_018122.5(DARS2):c.1804A>G (p.Ile602Val) SNV Uncertain significance 293829 rs779305793 GRCh37: 1:173826709-173826709
GRCh38: 1:173857571-173857571
42 DARS2 NM_018122.5(DARS2):c.1715A>C (p.Asp572Ala) SNV Uncertain significance 293826 rs886045590 GRCh37: 1:173825844-173825844
GRCh38: 1:173856706-173856706
43 DARS2 NM_018122.5(DARS2):c.*653T>G SNV Uncertain significance 293835 rs886045593 GRCh37: 1:173827496-173827496
GRCh38: 1:173858358-173858358
44 DARS2 NM_018122.5(DARS2):c.1750+11T>C SNV Uncertain significance 293827 rs535671373 GRCh37: 1:173825890-173825890
GRCh38: 1:173856752-173856752
45 DARS2 NM_018122.5(DARS2):c.1558A>C (p.Lys520Gln) SNV Uncertain significance 293825 rs201876507 GRCh37: 1:173822700-173822700
GRCh38: 1:173853562-173853562
46 DARS2 , CENPL NM_018122.5(DARS2):c.-533G>A SNV Uncertain significance 293811 rs533128814 GRCh37: 1:173793835-173793835
GRCh38: 1:173824697-173824697
47 DARS2 NM_018122.5(DARS2):c.1829G>C (p.Gly610Ala) SNV Uncertain significance 293830 rs886045591 GRCh37: 1:173826734-173826734
GRCh38: 1:173857596-173857596
48 DARS2 NM_018122.5(DARS2):c.*431G>A SNV Uncertain significance 293833 rs886045592 GRCh37: 1:173827274-173827274
GRCh38: 1:173858136-173858136
49 DARS2 NM_018122.5(DARS2):c.1063T>A (p.Phe355Ile) SNV Uncertain significance 293823 rs886045589 GRCh37: 1:173810046-173810046
GRCh38: 1:173840908-173840908
50 DARS2 NM_018122.5(DARS2):c.610C>G (p.Leu204Val) SNV Uncertain significance 801579 rs1020907363 GRCh37: 1:173802631-173802631
GRCh38: 1:173833493-173833493

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 DARS2 p.Ser45Gly VAR_037015 rs121918209
2 DARS2 p.Cys152Phe VAR_037016 rs121918208
3 DARS2 p.Arg179His VAR_037017 rs121918210
4 DARS2 p.Gln184Lys VAR_037018 rs146916073
5 DARS2 p.Gln248Lys VAR_037019 rs772489337
6 DARS2 p.Arg263Gln VAR_037020 rs121918207
7 DARS2 p.Asp560Val VAR_037021 rs770525873
8 DARS2 p.Leu613Phe VAR_037022 rs121918212
9 DARS2 p.Leu626Gln VAR_037023 rs121918213
10 DARS2 p.Leu626Val VAR_037024 rs121918205
11 DARS2 p.Tyr629Cys VAR_037025 rs761675657

Expression for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Search GEO for disease gene expression data for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.

Pathways for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Pathways related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

GO Terms for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

Sources for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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