HLD15
MCID: LKD028
MIFTS: 23

Leukodystrophy, Hypomyelinating, 15 (HLD15)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 15

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 15:

Name: Leukodystrophy, Hypomyelinating, 15 57 75 6
Hld15 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade (range infancy to late childhood)


HPO:

32
leukodystrophy, hypomyelinating, 15:
Onset and clinical course progressive


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 15

OMIM : 57 Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018) For a discussion of genetic heterogeneity of HLD, see 312080. (617951)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 15, is also known as hld15. An important gene associated with Leukodystrophy, Hypomyelinating, 15 is EPRS (Glutamyl-Prolyl-TRNA Synthetase). Affiliated tissues include brain, eye and spinal cord, and related phenotypes are nystagmus and seizures

UniProtKB/Swiss-Prot : 75 Leukodystrophy, hypomyelinating, 15: An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with thinning of the corpus callosum. Clinical features include motor and cognitive impairment appearing in the first or second decade of life, dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss.

Related Diseases for Leukodystrophy, Hypomyelinating, 15

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 15

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
amblyopia
hypermetropia
visual loss, progressive

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly (in some patients)

Growth Height:
short stature (1 patient)

Neurologic Central Nervous System:
ataxia
spasticity
developmental regression
cognitive impairment
intention tremor
more
Abdomen Gastrointestinal:
dysphagia
poor feeding
feeding tube

Head And Neck Ears:
hearing loss, sensorineural (in some patients)


Clinical features from OMIM:

617951

Human phenotypes related to Leukodystrophy, Hypomyelinating, 15:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 very rare (1%) HP:0001250
3 ataxia 32 HP:0001251
4 spasticity 32 HP:0001257
5 dysphagia 32 HP:0002015
6 developmental regression 32 HP:0002376
7 global developmental delay 32 HP:0001263
8 optic atrophy 32 HP:0000648
9 cognitive impairment 32 HP:0100543
10 feeding difficulties 32 HP:0011968
11 progressive visual loss 32 HP:0000529
12 intention tremor 32 HP:0002080
13 dystonia 32 HP:0001332
14 inability to walk 32 HP:0002540
15 amblyopia 32 HP:0000646
16 cerebellar atrophy 32 very rare (1%) HP:0001272
17 hypoplasia of the corpus callosum 32 HP:0002079
18 cerebral atrophy 32 HP:0002059
19 leukodystrophy 32 HP:0002415
20 athetosis 32 HP:0002305
21 hypermetropia 32 HP:0000540
22 abnormal pyramidal sign 32 HP:0007256

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 15

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 15

Genetic Tests for Leukodystrophy, Hypomyelinating, 15

Anatomical Context for Leukodystrophy, Hypomyelinating, 15

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 15:

41
Brain, Eye, Spinal Cord

Publications for Leukodystrophy, Hypomyelinating, 15

Variations for Leukodystrophy, Hypomyelinating, 15

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 15:

75
# Symbol AA change Variation ID SNP ID
1 EPRS p.Pro1115Arg VAR_080801

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPRS NM_004446.2(EPRS): c.3344C> G (p.Pro1115Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 219982801: 219982801
2 EPRS NM_004446.2(EPRS): c.3344C> G (p.Pro1115Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 220156143: 220156143
3 EPRS NM_004446.2(EPRS): c.1015C> T (p.Arg339Ter) single nucleotide variant Pathogenic rs763737931 GRCh38 Chromosome 1, 220022447: 220022447
4 EPRS NM_004446.2(EPRS): c.1015C> T (p.Arg339Ter) single nucleotide variant Pathogenic rs763737931 GRCh37 Chromosome 1, 220195789: 220195789
5 EPRS NM_004446.2(EPRS): c.3478C> T (p.Pro1160Ser) single nucleotide variant Pathogenic rs898824971 GRCh38 Chromosome 1, 219980833: 219980833
6 EPRS NM_004446.2(EPRS): c.3478C> T (p.Pro1160Ser) single nucleotide variant Pathogenic rs898824971 GRCh37 Chromosome 1, 220154175: 220154175
7 EPRS NM_004446.2(EPRS): c.3667delA (p.Thr1223Leufs) deletion Pathogenic GRCh37 Chromosome 1, 220153471: 220153471
8 EPRS NM_004446.2(EPRS): c.3667delA (p.Thr1223Leufs) deletion Pathogenic GRCh38 Chromosome 1, 219980129: 219980129
9 EPRS NM_004446.2(EPRS): c.3377T> C (p.Met1126Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 219981454: 219981454
10 EPRS NM_004446.2(EPRS): c.3377T> C (p.Met1126Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 220154796: 220154796

Expression for Leukodystrophy, Hypomyelinating, 15

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 15.

Pathways for Leukodystrophy, Hypomyelinating, 15

GO Terms for Leukodystrophy, Hypomyelinating, 15

Sources for Leukodystrophy, Hypomyelinating, 15

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74 UMLS via Orphanet
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