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HLD19
MCID: LKD032
MIFTS: 19
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Leukodystrophy, Hypomyelinating, 19, Transient Infantile (HLD19)
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, 19, Transient Infantile:Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation (in some patients) onset soon after birth nystagmus resolves within a few years of life myelination deficits seen on mri resolve within a few years of life four unrelated patients have been reported (last curated december 2019) HPO:31
leukodystrophy, hypomyelinating, 19, transient infantile:
Inheritance autosomal dominant inheritance 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
Transient infantile hypomyelinating leukodystrophy-19 (HLD19) is a disorder characterized by onset of transient neurologic abnormalities in early infancy, with resolution within the first or second decades. Affected individuals typically present in the newborn period or in early infancy with nystagmus and motor deficits associated with marked hypomyelination on brain imaging. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. Most patients have normal cognition and can attend regular schools, although some may have persistent neurologic deficits, such as gait ataxia, speech pronunciation defects, and/or mild cognitive impairment (summary by Yan et al., 2019).
For a discussion of genetic heterogeneity of HLD, see 312080. (618688) (Updated 20-May-2021)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 19, Transient Infantile, is also known as hld19. An important gene associated with Leukodystrophy, Hypomyelinating, 19, Transient Infantile is TMEM63A (Transmembrane Protein 63A). Affiliated tissues include eye, and related phenotypes are optic atrophy and specific learning disability UniProtKB/Swiss-Prot : 72 Leukodystrophy, hypomyelinating, 19, transient infantile: An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:618688 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:40
Eye
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Articles related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:
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Genes related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile:6
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile:72
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GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 19, Transient Infantile.
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