HLD18
MCID: LKD031
MIFTS: 26
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Leukodystrophy, Hypomyelinating, 18 (HLD18)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 18:Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity progressive disorder early death may occur onset in first months or years of life HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases Mental diseases |
OMIM®: 57 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) (Updated 08-Dec-2022) 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 cerebellum, brain and eye, and related phenotypes are seizure and spasticity UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 18:30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:618404 (Updated 08-Dec-2022) |
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Organs/tissues related to Leukodystrophy, Hypomyelinating, 18:
MalaCards :
Cerebellum,
Brain,
Eye
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Articles related to Leukodystrophy, Hypomyelinating, 18:
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 18:5 (show all 13)
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 18:73
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GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 18.
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