MCID: LKD016
MIFTS: 24

Leukodystrophy, Hypomyelinating, 9

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 9

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 9:

Name: Leukodystrophy, Hypomyelinating, 9 57 75 29 6 73
Hld9 57 12 75
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy 12 59
Leukodystrophy, Hypomyelinating, Type 9 40
Hypomyelinating Leukodystrophy 9 12

Characteristics:

Orphanet epidemiological data:

59
rars-related autosomal recessive hypomyelinating leukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in the first year of life
four patients from 3 families have been reported (last curated december 2014)


HPO:

32
leukodystrophy, hypomyelinating, 9:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Leukodystrophy, Hypomyelinating, 9

OMIM : 57 Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616140)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 9, is also known as hld9, and has symptoms including ataxia and action tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 9 is RARS (Arginyl-TRNA Synthetase). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and poor eye contact

UniProtKB/Swiss-Prot : 75 Leukodystrophy, hypomyelinating, 9: An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI.

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has material basis in compound heterozygous mutation in the RARS gene on chromosome 5q34.

Related Diseases for Leukodystrophy, Hypomyelinating, 9

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
poor smooth pursuit
poor visual fixation (1 patient)

Head And Neck Head:
microcephaly (1 patient)

Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
dysmetria
intention tremor
more
Muscle Soft Tissue:
hypertonicity of the lower limbs


Clinical features from OMIM:

616140

Human phenotypes related to Leukodystrophy, Hypomyelinating, 9:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 poor eye contact 59 32 frequent (33%) Frequent (79-30%) HP:0000817
3 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
4 dysarthria 59 32 Frequent (79-30%) HP:0001260
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
9 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
10 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
11 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
12 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
13 poor head control 59 32 frequent (33%) Frequent (79-30%) HP:0002421
14 cerebral hypomyelination 59 32 frequent (33%) Frequent (79-30%) HP:0006808
15 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
16 progressive extrapyramidal movement disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007153
17 developmental stagnation 59 32 frequent (33%) Frequent (79-30%) HP:0007281
18 infantile axial hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0009062
19 hyperintensity of cerebral white matter on mri 59 32 frequent (33%) Frequent (79-30%) HP:0030890
20 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
21 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
22 increased serum lactate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002151
23 diffuse cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002506
24 pseudobulbar paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007024
25 absent smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0007179
26 ataxia 59 Frequent (79-30%)
27 intellectual disability 32 HP:0001249
28 abnormality of extrapyramidal motor function 32 HP:0002071
29 leukodystrophy 32 HP:0002415

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 9:


ataxia, action tremor

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 9

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 9

Genetic Tests for Leukodystrophy, Hypomyelinating, 9

Genetic tests related to Leukodystrophy, Hypomyelinating, 9:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 9 29 RARS

Anatomical Context for Leukodystrophy, Hypomyelinating, 9

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 9:

41
Brain, Eye

Publications for Leukodystrophy, Hypomyelinating, 9

Variations for Leukodystrophy, Hypomyelinating, 9

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 9:

75
# Symbol AA change Variation ID SNP ID
1 RARS p.Asp2Gly VAR_072666 rs672601372
2 RARS p.Arg512Gln VAR_072667 rs369398935

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 9:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RARS NM_002887.3(RARS): c.5A> G (p.Asp2Gly) single nucleotide variant Pathogenic rs672601372 GRCh38 Chromosome 5, 168486503: 168486503
2 RARS NM_002887.3(RARS): c.5A> G (p.Asp2Gly) single nucleotide variant Pathogenic rs672601372 GRCh37 Chromosome 5, 167913508: 167913508
3 RARS NM_002887.3(RARS): c.45+1G> T single nucleotide variant Pathogenic rs672601373 GRCh38 Chromosome 5, 168486544: 168486544
4 RARS NM_002887.3(RARS): c.45+1G> T single nucleotide variant Pathogenic rs672601373 GRCh37 Chromosome 5, 167913549: 167913549
5 RARS NM_002887.3(RARS): c.96_97delTG (p.Cys32Trpfs) deletion Pathogenic rs672601374 GRCh37 Chromosome 5, 167915657: 167915658
6 RARS NM_002887.3(RARS): c.96_97delTG (p.Cys32Trpfs) deletion Pathogenic rs672601374 GRCh38 Chromosome 5, 168488652: 168488653
7 RARS NM_002887.3(RARS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs672601375 GRCh38 Chromosome 5, 168486499: 168486499
8 RARS NM_002887.3(RARS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs672601375 GRCh37 Chromosome 5, 167913504: 167913504
9 RARS NM_002887.3(RARS): c.1535G> A (p.Arg512Gln) single nucleotide variant Pathogenic rs369398935 GRCh38 Chromosome 5, 168516860: 168516860
10 RARS NM_002887.3(RARS): c.1535G> A (p.Arg512Gln) single nucleotide variant Pathogenic rs369398935 GRCh37 Chromosome 5, 167943865: 167943865
11 RARS NM_002887.3(RARS): c.1367C> T (p.Ser456Leu) single nucleotide variant Pathogenic rs139644798 GRCh38 Chromosome 5, 168510601: 168510601
12 RARS NM_002887.3(RARS): c.1367C> T (p.Ser456Leu) single nucleotide variant Pathogenic rs139644798 GRCh37 Chromosome 5, 167937606: 167937606
13 RARS NM_002887.3(RARS): c.1846_1847delTA (p.Tyr616Leufs) deletion Pathogenic rs1064792894 GRCh38 Chromosome 5, 168518035: 168518036
14 RARS NM_002887.3(RARS): c.1846_1847delTA (p.Tyr616Leufs) deletion Pathogenic rs1064792894 GRCh37 Chromosome 5, 167945040: 167945041

Expression for Leukodystrophy, Hypomyelinating, 9

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 9.

Pathways for Leukodystrophy, Hypomyelinating, 9

GO Terms for Leukodystrophy, Hypomyelinating, 9

Sources for Leukodystrophy, Hypomyelinating, 9

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74 UMLS via Orphanet
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