HLD19
MCID: LKD032
MIFTS: 11

Leukodystrophy, Hypomyelinating, 19, Transient Infantile (HLD19)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

Name: Leukodystrophy, Hypomyelinating, 19, Transient Infantile 56
Hld19 56

Classifications:



External Ids:

OMIM 56 618688
OMIM Phenotypic Series 56 PS312080

Summaries for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

OMIM : 56 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)

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 brain.

Related Diseases for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Clinical features from OMIM:

618688

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Genetic Tests for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Anatomical Context for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

40
Brain

Publications for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Articles related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

# Title Authors PMID Year
1
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. 56
31587869 2019

Variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Expression for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 19, Transient Infantile.

Pathways for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

GO Terms for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Sources for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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30 HMDB
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32 ICD10
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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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