HLD18
MCID: LKD031
MIFTS: 19

Leukodystrophy, Hypomyelinating, 18 (HLD18)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 18

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 18:

Name: Leukodystrophy, Hypomyelinating, 18 58 6
Hld18 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
early death may occur
onset in first months or years of life


Classifications:



External Ids:

OMIM 58 618404

Summaries for Leukodystrophy, Hypomyelinating, 18

OMIM : 58 Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (618404)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 18, is also known as hld18. An important gene associated with Leukodystrophy, Hypomyelinating, 18 is DEGS1 (Delta 4-Desaturase, Sphingolipid 1). Affiliated tissues include brain, cerebellum and eye.

Related Diseases for Leukodystrophy, Hypomyelinating, 18

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 18

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
abnormal eye movements

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypertonia
neurogenic atrophy seen on muscle biopsy

Skeletal:
joint contractures

Head And Neck Head:
acquired microcephaly (in some patients)

Neurologic Central Nervous System:
dysarthria
spastic tetraplegia
dysmetria
dystonia
cerebellar atrophy
more
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Neurologic Peripheral Nervous System:
decreased nerve conduction velocities (in some patients)
demyelinating peripheral neuropathy (in some patients)
sural nerve biopsy shows thin myelin sheaths

Laboratory Abnormalities:
increased plasma dihydroceramide (dhcer)

Clinical features from OMIM:

618404

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 18

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 18

Genetic Tests for Leukodystrophy, Hypomyelinating, 18

Anatomical Context for Leukodystrophy, Hypomyelinating, 18

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 18:

42
Brain, Cerebellum, Eye

Publications for Leukodystrophy, Hypomyelinating, 18

Articles related to Leukodystrophy, Hypomyelinating, 18:

# Title Authors Year
1
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. ( 30620337 )
2019
2
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans. ( 30620338 )
2019

Variations for Leukodystrophy, Hypomyelinating, 18

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 18:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 DEGS1 NM_003676.4(DEGS1): c.764A> G (p.Asn255Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224190258: 224190258
2 DEGS1 NM_003676.4(DEGS1): c.764A> G (p.Asn255Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224377960: 224377960
3 DEGS1 NM_001321542.1(DEGS1): c.731C> T (p.Ala244Val) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224192345: 224192345
4 DEGS1 NM_001321542.1(DEGS1): c.731C> T (p.Ala244Val) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224380047: 224380047
5 DEGS1 NM_003676.4(DEGS1): c.395A> G (p.His132Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224189889: 224189889
6 DEGS1 NM_003676.4(DEGS1): c.395A> G (p.His132Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224377591: 224377591
7 DEGS1 NM_003676.4(DEGS1): c.341_342del (p.Leu114Profs) deletion Pathogenic GRCh37 Chromosome 1, 224377537: 224377538
8 DEGS1 NM_003676.4(DEGS1): c.341_342del (p.Leu114Profs) deletion Pathogenic GRCh38 Chromosome 1, 224189835: 224189836
9 DEGS1 NM_003676.4(DEGS1): c.604del (p.Tyr202Thrfs) deletion Pathogenic GRCh37 Chromosome 1, 224377800: 224377800
10 DEGS1 NM_003676.4(DEGS1): c.604del (p.Tyr202Thrfs) deletion Pathogenic GRCh38 Chromosome 1, 224190098: 224190098
11 DEGS1 NM_001321541.1(DEGS1): c.337A> G (p.Asn113Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224189831: 224189831
12 DEGS1 NM_001321541.1(DEGS1): c.337A> G (p.Asn113Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224377533: 224377533
13 DEGS1 NM_003676.4(DEGS1): c.320G> A (p.Trp107Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224189814: 224189814
14 DEGS1 NM_003676.4(DEGS1): c.320G> A (p.Trp107Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224377516: 224377516

Expression for Leukodystrophy, Hypomyelinating, 18

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 18.

Pathways for Leukodystrophy, Hypomyelinating, 18

GO Terms for Leukodystrophy, Hypomyelinating, 18

Sources for Leukodystrophy, Hypomyelinating, 18

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