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HLD16
MCID: LKD029
MIFTS: 21
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Leukodystrophy, Hypomyelinating, 16 (HLD16)
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, 16:Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable severity de novo mutation (in most patients) onset in the first days or weeks of life some patients may have normal cognitive development HPO:31
leukodystrophy, hypomyelinating, 16:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity 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-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617964) (Updated 05-Apr-2021)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 16, is also known as hld16. An important gene associated with Leukodystrophy, Hypomyelinating, 16 is TMEM106B (Transmembrane Protein 106B). Related phenotypes are intellectual disability and feeding difficulties UniProtKB/Swiss-Prot : 72 Leukodystrophy, hypomyelinating, 16: An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 16:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:617964 (Updated 05-Apr-2021) |
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Articles related to Leukodystrophy, Hypomyelinating, 16:
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Genes related to Leukodystrophy, Hypomyelinating, 16 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 16:6
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 16:72
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 16.
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