LBSL
MCID: LKN026
MIFTS: 40

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

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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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 42 73 71
Lbsl 57 24 19 42 58 73
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 57 24 19 12
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome 19 58 28 5
Mitochondrial Aspartyl-Trna Synthetase Deficiency 57 24 19 42
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-Lactate Elevation Syndrome 19 58
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement - Lactate Elevation 19
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elev 19
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement - High Lactate 19
Leukoencephalopathy, Brain Stem and Spinal Cord Involvement, Lactate Elevation 38

Characteristics:


Inheritance:

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: Autosomal recessive 57
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome: Autosomal recessive 58

Prevelance:

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
variable severity
onset between age 2 and 15 years
one patient with episodic ataxia and later onset has been reported (as of june 2010)


HPO:

30
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation:
Onset and clinical course variable expressivity slowly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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

MedlinePlus Genetics: 42 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 lbsl, is related to cone-rod dystrophy 2 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). Affiliated tissues include spinal cord, brain and cerebellum, and related phenotypes are abnormality of the dorsal column of the spinal cord and dysarthria

GARD: 19 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 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 .

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

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 24)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.7
2 leukodystrophy 10.5
3 scoliosis 10.4
4 chickenpox 10.4
5 mitochondrial disease 10.4
6 microcephaly 10.4
7 spastic quadriplegia 10.4
8 quadriplegia 10.4
9 hereditary spastic paraplegia 10.4
10 spastic paraparesis 10.4
11 spasticity 10.4
12 aceruloplasminemia 10.2
13 adult syndrome 9.9
14 leigh syndrome 9.9
15 hypomyelination with brainstem and spinal cord involvement and leg spasticity 9.9
16 cerebellar disease 9.9
17 lactic acidosis 9.9
18 peripheral nervous system disease 9.9
19 axonal neuropathy 9.9
20 cataract 9.9
21 neuropathy 9.9
22 pathologic nystagmus 9.9
23 headache 9.9
24 hypotonia 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 30 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dorsal column of the spinal cord 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011397
2 dysarthria 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001260
3 tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0001337
4 progressive spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002191
5 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
6 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
7 distal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002460
8 unsteady gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002317
9 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
10 spastic ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002497
11 progressive cerebellar ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002073
12 dysmyelinating leukodystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0006978
13 loss of ambulation 30 Frequent (33%) HP:0002505
14 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001270
15 increased serum lactate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002151
16 mental deterioration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001268
17 hyporeflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001265
18 impaired distal proprioception 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006858
19 increased csf lactate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002490
20 poor fine motor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007010
21 peripheral axonal neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003477
22 leg muscle stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008969
23 impaired visuospatial constructive cognition 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010794
24 impaired vibration sensation in the lower limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002166
25 cognitive impairment 30 Occasional (7.5%) HP:0100543
26 intellectual disability 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001249
27 seizure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001250
28 ptosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000508
29 nystagmus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000639
30 diplopia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000651
31 hypotonia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001252
32 hearing impairment 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000365
33 optic atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000648
34 flexion contracture 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001371
35 slurred speech 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001350
36 absent speech 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001344
37 cerebellar atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001272
38 cerebral atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002059
39 polyneuropathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001271
40 hypoplasia of the corpus callosum 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002079
41 generalized limb muscle atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009055
42 truncal ataxia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002078
43 spastic/hyperactive bladder 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005340
44 slow saccadic eye movements 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000514
45 impaired pursuit initiation and maintenance 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007668
46 spasticity 30 HP:0001257
47 hyperreflexia 30 HP:0001347
48 neurological speech impairment 58 Frequent (79-30%)
49 ataxia 30 HP:0001251
50 muscle weakness 30 HP:0001324

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 DARS2

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

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

MalaCards : Spinal Cord, Brain, Cerebellum, Skeletal Muscle, Eye

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 79)
# Title Authors PMID Year
1
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. 62 24 57 5
24566671 2014
2
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. 62 24 57 5
21749991 2011
3
A novel homozygous mutation of DARS2 may cause a severe LBSL variant. 62 24 57 5
21815884 2011
4
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. 62 24 57 5
19592391 2010
5
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 62 24 57 5
17384640 2007
6
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. 62 24 5
33977142 2021
7
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. 62 24 5
26327357 2015
8
Early-onset LBSL: how severe does it get? 62 24 5
23065766 2012
9
Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. 24 57
15002045 2004
10
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. 24 57
12557294 2003
11
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations. 62 5
30006346 2018
12
A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings. 62 5
24005482 2014
13
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings. 62 5
24407472 2014
14
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. 62 5
23652419 2013
15
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. 62 5
23216004 2013
16
Clinical implementation of RNA sequencing for Mendelian disease diagnostics. 5
35379322 2022
17
Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up. 62 24
32925487 2020
18
A New DARS2 Mutation Discovered in an Adult Patient. 62 24
32308605 2020
19
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene. 62 24
30635318 2019
20
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report. 62 24
30352563 2018
21
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation. 62 24
29138691 2017
22
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. 62 24
28017220 2017
23
Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures. 5
26620921 2015
24
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. 62 24
23643384 2013
25
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. 62 24
22677571 2013
26
Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis. 5
22843165 2012
27
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. 62 24
18619624 2008
28
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients. 62 24
17665025 2007
29
Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. 57
16788019 2006
30
Five new cases of a recently described leukoencephalopathy with high brain lactate. 57
15326244 2004
31
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. 24
31814314 2020
32
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. 24
31213485 2019
33
Diagnosis, prognosis, and treatment of leukodystrophies. 24
31307818 2019
34
Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood. 24
30770271 2019
35
Hereditary ataxias and paraparesias: clinical and genetic update. 24
29847346 2018
36
Mitochondrial ataxias. 24
29891055 2018
37
Activation of Cerebral X-linked Adrenoleukodystrophy After Head Trauma. 24
28534457 2017
38
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
39
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 24
25817015 2015
40
Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. 24
22006980 2011
41
Vanishing white matter disease. 24
16632312 2006
42
Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. 24
15779907 2005
43
MRI in vitamin B12 deficiency myelopathy. 24
10068811 1999
44
Crystal structure of a prokaryotic aspartyl tRNA-synthetase. 24
8045252 1994
45
An induced pluripotent stem cell line (FHUSTCi002-A) derived from a patient with leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 62
35914483 2022
46
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 62
35820270 2022
47
Wearable sensors detect impaired gait and coordination in LBSL during remote assessments. 62
35257509 2022
48
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity. 62
34631948 2021
49
Headache, cataract, and unilateral visual loss: unusual features of DARS2 variants in LBSL. 62
33686843 2021
50
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). 62
34104671 2021

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

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

5 (show top 50) (show all 77)
# 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.133A>G (p.Ser45Gly) SNV Pathogenic
1063 rs121918209 GRCh37: 1:173795830-173795830
GRCh38: 1:173826692-173826692
4 DARS2 NM_018122.5(DARS2):c.536G>A (p.Arg179His) SNV Pathogenic
1064 rs121918210 GRCh37: 1:173802557-173802557
GRCh38: 1:173833419-173833419
5 DARS2 NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe) SNV Pathogenic
1066 rs121918212 GRCh37: 1:173826742-173826742
GRCh38: 1:173857604-173857604
6 DARS2 NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln) SNV Pathogenic
1067 rs121918213 GRCh37: 1:173826782-173826782
GRCh38: 1:173857644-173857644
7 DARS2 NM_018122.5(DARS2):c.396+2T>G SNV Pathogenic
449386 rs759123043 GRCh37: 1:173799901-173799901
GRCh38: 1:173830763-173830763
8 DARS2 NM_018122.5(DARS2):c.1196del (p.Ile399fs) DEL Pathogenic
801580 rs1571995707 GRCh37: 1:173819469-173819469
GRCh38: 1:173850331-173850331
9 DARS2 NM_018122.5(DARS2):c.742C>T (p.Gln248Ter) SNV Pathogenic
1188833 GRCh37: 1:173806156-173806156
GRCh38: 1:173837018-173837018
10 DARS2 NM_018122.5(DARS2):c.562C>T (p.Arg188Ter) SNV Pathogenic
1256059 GRCh37: 1:173802583-173802583
GRCh38: 1:173833445-173833445
11 DARS2 NM_018122.5(DARS2):c.128-1G>T SNV Pathogenic
1322189 GRCh37: 1:173795824-173795824
GRCh38: 1:173826686-173826686
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.228-16C>A SNV Pathogenic
1182591 GRCh37: 1:173797455-173797455
GRCh38: 1:173828317-173828317
14 DARS2 NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) SNV Pathogenic
1065 rs121918211 GRCh37: 1:173819546-173819546
GRCh38: 1:173850408-173850408
15 DARS2 NM_018122.5(DARS2):c.228-22T>A SNV Pathogenic
30862 rs1557853625 GRCh37: 1:173797449-173797449
GRCh38: 1:173828311-173828311
16 DARS2 NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) SNV Pathogenic
1061 rs121918208 GRCh37: 1:173800731-173800731
GRCh38: 1:173831593-173831593
17 DARS2 NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) SNV Pathogenic
1188834 GRCh37: 1:173795869-173795869
GRCh38: 1:173826731-173826731
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.788G>A (p.Arg263Gln) SNV Pathogenic
1060 rs121918207 GRCh37: 1:173807345-173807345
GRCh38: 1:173838207-173838207
20 DARS2 NM_018122.5(DARS2):c.492+2T>C SNV Pathogenic
1062 rs142433332 GRCh37: 1:173800770-173800770
GRCh38: 1:173831632-173831632
21 DARS2 NM_018122.5(DARS2):c.1702C>T (p.Leu568Phe) SNV Likely Pathogenic
1704271 GRCh37: 1:173825831-173825831
GRCh38: 1:173856693-173856693
22 DARS2 NM_018122.5(DARS2):c.1456C>G (p.Leu486Val) SNV Likely Pathogenic
1704272 GRCh37: 1:173822598-173822598
GRCh38: 1:173853460-173853460
23 DARS2 NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) SNV Likely Pathogenic
427120 rs972404343 GRCh37: 1:173826667-173826667
GRCh38: 1:173857529-173857529
24 DARS2 NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) SNV Likely Pathogenic
434896 rs1209550754 GRCh37: 1:173797502-173797502
GRCh38: 1:173828364-173828364
25 DARS2 NM_018122.5(DARS2):c.452C>A (p.Ala151Asp) SNV Likely Pathogenic
1300136 GRCh37: 1:173800728-173800728
GRCh38: 1:173831590-173831590
26 DARS2 NM_018122.5(DARS2):c.761G>A (p.Gly254Asp) SNV Likely Pathogenic
1300137 GRCh37: 1:173806175-173806175
GRCh38: 1:173837037-173837037
27 DARS2 NM_018122.5(DARS2):c.493-1G>C SNV Likely Pathogenic
873471 rs771905691 GRCh37: 1:173802513-173802513
GRCh38: 1:173833375-173833375
28 DARS2 NM_018122.5(DARS2):c.1173_1179del (p.Ala392fs) DEL Likely Pathogenic
1324208 GRCh37: 1:173814410-173814416
GRCh38: 1:173845272-173845278
29 DARS2 NM_018122.5(DARS2):c.228-17C>G SNV Likely Pathogenic
801578 rs754752982 GRCh37: 1:173797454-173797454
GRCh38: 1:173828316-173828316
30 DARS2 NM_018122.5(DARS2):c.563G>A (p.Arg188Gln) SNV Likely Pathogenic
694538 rs182811621 GRCh37: 1:173802584-173802584
GRCh38: 1:173833446-173833446
31 DARS2 NM_018122.5(DARS2):c.128-4A>T SNV Conflicting Interpretations Of Pathogenicity
377765 rs769597479 GRCh37: 1:173795821-173795821
GRCh38: 1:173826683-173826683
32 DARS2 NM_018122.5(DARS2):c.228-10C>G SNV Uncertain Significance
875498 rs201817953 GRCh37: 1:173797461-173797461
GRCh38: 1:173828323-173828323
33 DARS2 NM_018122.5(DARS2):c.1558A>C (p.Lys520Gln) SNV Uncertain Significance
293825 rs201876507 GRCh37: 1:173822700-173822700
GRCh38: 1:173853562-173853562
34 DARS2 NM_018122.5(DARS2):c.610C>G (p.Leu204Val) SNV Uncertain Significance
801579 rs1020907363 GRCh37: 1:173802631-173802631
GRCh38: 1:173833493-173833493
35 DARS2 NM_018122.5(DARS2):c.261T>C (p.Asp87=) SNV Uncertain Significance
293814 rs182096636 GRCh37: 1:173797504-173797504
GRCh38: 1:173828366-173828366
36 DARS2 NM_018122.5(DARS2):c.1758C>T (p.Asp586=) SNV Uncertain Significance
293828 rs371048800 GRCh37: 1:173826663-173826663
GRCh38: 1:173857525-173857525
37 DARS2 NM_018122.5(DARS2):c.1191+1G>C SNV Uncertain Significance
632091 rs754063468 GRCh37: 1:173814430-173814430
GRCh38: 1:173845292-173845292
38 DARS2, CENPL NM_018122.5(DARS2):c.-522G>C SNV Uncertain Significance
293812 rs886045585 GRCh37: 1:173793846-173793846
GRCh38: 1:173824708-173824708
39 DARS2 NM_018122.5(DARS2):c.*168C>T SNV Uncertain Significance
293831 rs550840346 GRCh37: 1:173827011-173827011
GRCh38: 1:173857873-173857873
40 DARS2 NM_018122.5(DARS2):c.567G>A (p.Leu189=) SNV Uncertain Significance
293815 rs547708828 GRCh37: 1:173802588-173802588
GRCh38: 1:173833450-173833450
41 DARS2 NM_018122.5(DARS2):c.1182T>C (p.His394=) SNV Uncertain Significance
293824 rs569842479 GRCh37: 1:173814420-173814420
GRCh38: 1:173845282-173845282
42 DARS2 NM_018122.5(DARS2):c.834T>C (p.Phe278=) SNV Uncertain Significance
293822 rs117574607 GRCh37: 1:173807391-173807391
GRCh38: 1:173838253-173838253
43 DARS2 NM_018122.5(DARS2):c.*152A>C SNV Uncertain Significance
873686 rs555583349 GRCh37: 1:173826995-173826995
GRCh38: 1:173857857-173857857
44 DARS2 NM_018122.5(DARS2):c.*587G>A SNV Uncertain Significance
873687 rs567773377 GRCh37: 1:173827430-173827430
GRCh38: 1:173858292-173858292
45 DARS2 NM_018122.5(DARS2):c.*644G>A SNV Uncertain Significance
873688 rs542846978 GRCh37: 1:173827487-173827487
GRCh38: 1:173858349-173858349
46 DARS2, CENPL NM_018122.5(DARS2):c.-543C>T SNV Uncertain Significance
874571 rs936318556 GRCh37: 1:173793825-173793825
GRCh38: 1:173824687-173824687
47 DARS2, CENPL NM_018122.5(DARS2):c.-488G>C SNV Uncertain Significance
874572 rs1652389811 GRCh37: 1:173793880-173793880
GRCh38: 1:173824742-173824742
48 DARS2 NM_018122.5(DARS2):c.-219C>T SNV Uncertain Significance
874573 rs569117944 GRCh37: 1:173794149-173794149
GRCh38: 1:173825011-173825011
49 DARS2 NM_018122.5(DARS2):c.-147A>G SNV Uncertain Significance
874574 rs866230478 GRCh37: 1:173794221-173794221
GRCh38: 1:173825083-173825083
50 DARS2 NM_018122.5(DARS2):c.228-13C>G SNV Uncertain Significance
875497 rs549430098 GRCh37: 1:173797458-173797458
GRCh38: 1:173828320-173828320

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

73 (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 rs1469160736
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...

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

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

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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