MCID: LKD028
MIFTS: 17

Leukodystrophy, Hypomyelinating, 15

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 15

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 15:

Name: Leukodystrophy, Hypomyelinating, 15 57 6
Hld15 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617951

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 and spinal cord.

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

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, Spinal Cord

Publications for Leukodystrophy, Hypomyelinating, 15

Variations for Leukodystrophy, Hypomyelinating, 15

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 GRCh37 Chromosome 1, 220154175: 220154175
6 EPRS NM_004446.2(EPRS): c.3478C> T (p.Pro1160Ser) single nucleotide variant Pathogenic rs898824971 GRCh38 Chromosome 1, 219980833: 219980833
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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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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