MCID: HYP530
MIFTS: 25

Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

Name: Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 57 75 29 6 73
Hbsl 57 59 75
Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity 59
Aspartyl-Trna Synthetase Deficiency 57
Aspartyl Trna Synthetase 13

Characteristics:

Orphanet epidemiological data:

59
hypomyelination with brain stem and spinal cord involvement and leg spasticity
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first year of life


HPO:

32
hypomyelination with brainstem and spinal cord involvement and leg spasticity:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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

OMIM : 57 Hypomyelination with brainstem and spinal cord involvement and leg spasticity is an autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord (summary by Taft et al., 2013). (615281)

MalaCards based summary : Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity, also known as hbsl, is related to leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation and spasticity. An important gene associated with Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity is DARS (Aspartyl-TRNA Synthetase). Affiliated tissues include spinal cord, brain and cerebellum, and related phenotypes are nystagmus and intellectual disability, mild

UniProtKB/Swiss-Prot : 75 Hypomyelination with brainstem and spinal cord involvement and leg spasticity: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord.

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

Diseases related to Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.0
2 spasticity 10.2
3 leukodystrophy 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
pallor of the optic disks (in some patients)

Neurologic Central Nervous System:
hyperreflexia
leukoencephalopathy
delayed motor development
mental retardation, mild (in some patients)
hypomyelination
more

Clinical features from OMIM:

615281

Human phenotypes related to Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability, mild 32 occasional (7.5%) HP:0001256
3 spasticity 32 HP:0001257
4 motor delay 32 HP:0001270
5 hyperreflexia 32 HP:0001347
6 hypoplasia of the corpus callosum 32 HP:0002079
7 leukoencephalopathy 32 HP:0002352
8 cns hypomyelination 32 HP:0003429
9 babinski sign 32 HP:0003487
10 muscular hypotonia of the trunk 32 HP:0008936

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

Search Clinical Trials , NIH Clinical Center for Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity

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

Genetic tests related to Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

# Genetic test Affiliating Genes
1 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 29 DARS

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

MalaCards organs/tissues related to Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

41
Spinal Cord, Brain, Cerebellum

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

Articles related to Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

# Title Authors Year
1
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. ( 23643384 )
2013

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

UniProtKB/Swiss-Prot genetic disease variations for Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

75
# Symbol AA change Variation ID SNP ID
1 DARS p.Met256Leu VAR_070038 rs886037635
2 DARS p.Ala274Val VAR_070039 rs369152939
3 DARS p.Asp367Tyr VAR_070040 rs370064817
4 DARS p.Arg460His VAR_070041 rs587776985
5 DARS p.Pro464Leu VAR_070042 rs148806569
6 DARS p.Arg487Cys VAR_070043 rs587776984
7 DARS p.Arg494Cys VAR_070044 rs147077598
8 DARS p.Arg494Gly VAR_070045 rs147077598

ClinVar genetic disease variations for Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 DARS NM_001349.3(DARS): c.1099G> T (p.Asp367Tyr) single nucleotide variant Pathogenic rs370064817 GRCh37 Chromosome 2, 136673803: 136673803
2 DARS NM_001349.3(DARS): c.1099G> T (p.Asp367Tyr) single nucleotide variant Pathogenic rs370064817 GRCh38 Chromosome 2, 135916233: 135916233
3 DARS NM_001349.3(DARS): c.821C> T (p.Ala274Val) single nucleotide variant Pathogenic rs369152939 GRCh37 Chromosome 2, 136678161: 136678161
4 DARS NM_001349.3(DARS): c.821C> T (p.Ala274Val) single nucleotide variant Pathogenic rs369152939 GRCh38 Chromosome 2, 135920591: 135920591
5 DARS NM_001349.3(DARS): c.766A> C (p.Met256Leu) single nucleotide variant Pathogenic rs886037635 GRCh37 Chromosome 2, 136680399: 136680399
6 DARS NM_001349.3(DARS): c.766A> C (p.Met256Leu) single nucleotide variant Pathogenic rs886037635 GRCh38 Chromosome 2, 135922829: 135922829
7 DARS NM_001349.3(DARS): c.1459C> T (p.Arg487Cys) single nucleotide variant Likely pathogenic rs587776984 GRCh37 Chromosome 2, 136664933: 136664933
8 DARS NM_001349.3(DARS): c.1459C> T (p.Arg487Cys) single nucleotide variant Likely pathogenic rs587776984 GRCh38 Chromosome 2, 135907363: 135907363
9 DARS NM_001349.3(DARS): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs587776985 GRCh37 Chromosome 2, 136668744: 136668744
10 DARS NM_001349.3(DARS): c.1379G> A (p.Arg460His) single nucleotide variant Pathogenic rs587776985 GRCh38 Chromosome 2, 135911174: 135911174
11 DARS NM_001349.3(DARS): c.1480C> G (p.Arg494Gly) single nucleotide variant Pathogenic rs147077598 GRCh37 Chromosome 2, 136664912: 136664912
12 DARS NM_001349.3(DARS): c.1480C> G (p.Arg494Gly) single nucleotide variant Pathogenic rs147077598 GRCh38 Chromosome 2, 135907342: 135907342
13 DARS NM_001349.3(DARS): c.839A> T (p.His280Leu) single nucleotide variant Pathogenic rs527236040 GRCh37 Chromosome 2, 136678143: 136678143
14 DARS NM_001349.3(DARS): c.839A> T (p.His280Leu) single nucleotide variant Pathogenic rs527236040 GRCh38 Chromosome 2, 135920573: 135920573
15 DARS NM_001349.3(DARS): c.1277T> C (p.Leu426Ser) single nucleotide variant Likely pathogenic rs377510027 GRCh38 Chromosome 2, 135911447: 135911447
16 DARS NM_001349.3(DARS): c.1277T> C (p.Leu426Ser) single nucleotide variant Likely pathogenic rs377510027 GRCh37 Chromosome 2, 136669017: 136669017
17 DARS NM_001349.3(DARS): c.242G> A (p.Arg81His) single nucleotide variant Uncertain significance rs532864330 GRCh37 Chromosome 2, 136719044: 136719044
18 DARS NM_001349.3(DARS): c.242G> A (p.Arg81His) single nucleotide variant Uncertain significance rs532864330 GRCh38 Chromosome 2, 135961474: 135961474
19 DARS NM_001349.3(DARS): c.1481G> A (p.Arg494His) single nucleotide variant Pathogenic rs967111310 GRCh38 Chromosome 2, 135907341: 135907341
20 DARS NM_001349.3(DARS): c.1481G> A (p.Arg494His) single nucleotide variant Pathogenic rs967111310 GRCh37 Chromosome 2, 136664911: 136664911

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

Search GEO for disease gene expression data for Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity.

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

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

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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