HLD15
MCID: LKD028
MIFTS: 22

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 58 76 6
Hld15 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
leukodystrophy, hypomyelinating, 15:
Onset and clinical course progressive


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 15

OMIM : 58 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 and spinal cord, and related phenotypes are seizures and cerebellar atrophy

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Leukodystrophy, Hypomyelinating, 15:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 cerebellar atrophy 33 very rare (1%) HP:0001272
3 nystagmus 33 HP:0000639
4 ataxia 33 HP:0001251
5 spasticity 33 HP:0001257
6 dysphagia 33 HP:0002015
7 developmental regression 33 HP:0002376
8 global developmental delay 33 HP:0001263
9 optic atrophy 33 HP:0000648
10 cognitive impairment 33 HP:0100543
11 feeding difficulties 33 HP:0011968
12 progressive visual loss 33 HP:0000529
13 intention tremor 33 HP:0002080
14 dystonia 33 HP:0001332
15 inability to walk 33 HP:0002540
16 amblyopia 33 HP:0000646
17 hypoplasia of the corpus callosum 33 HP:0002079
18 cerebral atrophy 33 HP:0002059
19 leukodystrophy 33 HP:0002415
20 athetosis 33 HP:0002305
21 hypermetropia 33 HP:0000540
22 abnormal pyramidal sign 33 HP:0007256

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Brain, Spinal Cord

Publications for Leukodystrophy, Hypomyelinating, 15

Variations for Leukodystrophy, Hypomyelinating, 15

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

76
# Symbol AA change Variation ID SNP ID
1 EPRS p.Pro1115Arg VAR_080801 rs128811601

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 rs1288116010 GRCh37 Chromosome 1, 220156143: 220156143
2 EPRS NM_004446.2(EPRS): c.3344C> G (p.Pro1115Arg) single nucleotide variant Pathogenic rs1288116010 GRCh38 Chromosome 1, 219982801: 219982801
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 rs1553318956 GRCh37 Chromosome 1, 220153471: 220153471
8 EPRS NM_004446.2(EPRS): c.3667delA (p.Thr1223Leufs) deletion Pathogenic rs1553318956 GRCh38 Chromosome 1, 219980129: 219980129
9 EPRS NM_004446.2(EPRS): c.3377T> C (p.Met1126Thr) single nucleotide variant Pathogenic rs1474000585 GRCh38 Chromosome 1, 219981454: 219981454
10 EPRS NM_004446.2(EPRS): c.3377T> C (p.Met1126Thr) single nucleotide variant Pathogenic rs1474000585 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....