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HLD20
MCID: LKD033
MIFTS: 20
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Leukodystrophy, Hypomyelinating, 20 (HLD20)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 20:
Name: Leukodystrophy, Hypomyelinating, 20
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
death in childhood progressive disorder normal early development onset between 12 and 18 month of age one consanguineous family has been reported (last curated october 2020)
Inheritance:
autosomal recessive HPO:31
leukodystrophy, hypomyelinating, 20:
Inheritance autosomal recessive inheritance Onset and clinical course childhood onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases |
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OMIM® :
57
Hypomyelinating leukodystrophy-20 (HLD20) is an autosomal recessive neurodegenerative disorder characterized by the loss of developmental milestones at about 12 to 16 months of age after normal early development. Patients lose motor, language, and cognitive skills and show poor overall growth with microcephaly. The disorder is progressive, resulting in feeding difficulties and spastic quadriplegia. Some patients may have seizures. Brain imaging shows subcortical white matter abnormalities and a thin corpus callosum, suggesting a myelination defect. Death usually occurs in childhood (Al-Abdi et al., 2020).
For a discussion of genetic heterogeneity of HLD, see 312080. (619071) (Updated 05-Mar-2021)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 20, is also known as hld20. An important gene associated with Leukodystrophy, Hypomyelinating, 20 is CNP (2',3'-Cyclic Nucleotide 3' Phosphodiesterase). Affiliated tissues include brain, and related phenotypes are scoliosis and ptosis Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has material basis in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 20:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619071 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 20:40
Brain
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Articles related to Leukodystrophy, Hypomyelinating, 20:
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Genes related to Leukodystrophy, Hypomyelinating, 20 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 20.
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