HLD19
MCID: LKD032
MIFTS: 19

Leukodystrophy, Hypomyelinating, 19, Transient Infantile (HLD19)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle 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 57 72 6
Hld19 57 72

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:



External Ids:

OMIM® 57 618688
OMIM Phenotypic Series 57 PS312080
MeSH 44 D020279

Summaries for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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.

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

Human phenotypes related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 specific learning disability 31 very rare (1%) HP:0001328
3 myopia 31 very rare (1%) HP:0000545
4 hypospadias 31 very rare (1%) HP:0000047
5 dysmetria 31 very rare (1%) HP:0001310
6 babinski sign 31 very rare (1%) HP:0003487
7 poor head control 31 very rare (1%) HP:0002421
8 generalized hypotonia 31 very rare (1%) HP:0001290
9 intention tremor 31 very rare (1%) HP:0002080
10 head titubation 31 very rare (1%) HP:0002599
11 delayed cns myelination 31 very rare (1%) HP:0002188
12 pendular nystagmus 31 very rare (1%) HP:0012043
13 delayed ability to walk 31 very rare (1%) HP:0031936
14 leukodystrophy 31 HP:0002415

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
dysmetria
poor head control
head titubation
delayed walking
more
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
myopia
nystagmus, pendular
abnormal visual evoked potentials (vep, in some patients)

Head And Neck Ears:
abnormal brainstem auditory evoked potentials (baep, in some patients)

Clinical features from OMIM®:

618688 (Updated 20-May-2021)

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
Eye

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. 57 6
31587869 2019

Variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM63A NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser) SNV Pathogenic 689461 rs1576074651 GRCh37: 1:226041428-226041428
GRCh38: 1:225853727-225853727
2 TMEM63A NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn) SNV Pathogenic 689460 rs1576080546 GRCh37: 1:226044710-226044710
GRCh38: 1:225857010-225857010
3 TMEM63A NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu) SNV Pathogenic 689459 rs1576101665 GRCh37: 1:226055599-226055599
GRCh38: 1:225867899-225867899

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

72
# Symbol AA change Variation ID SNP ID
1 TMEM63A p.Gly168Glu VAR_083043
2 TMEM63A p.Ile462Asn VAR_083044
3 TMEM63A p.Gly567Ser VAR_083045

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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