HLD19
MCID: LKD032
MIFTS: 23

Leukodystrophy, Hypomyelinating, 19, Transient Infantile (HLD19)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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

Name: Leukodystrophy, Hypomyelinating, 19, Transient Infantile 57 73 28 5 38
Hld19 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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)


Classifications:



External Ids:

OMIM® 57 618688
OMIM Phenotypic Series 57 PS312080
MeSH 43 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 08-Dec-2022)

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 and spinal cord, and related phenotypes are optic atrophy and specific learning disability

UniProtKB/Swiss-Prot: 73 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:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 30 Very rare (1%) HP:0000648
2 specific learning disability 30 Very rare (1%) HP:0001328
3 myopia 30 Very rare (1%) HP:0000545
4 hypospadias 30 Very rare (1%) HP:0000047
5 dysmetria 30 Very rare (1%) HP:0001310
6 babinski sign 30 Very rare (1%) HP:0003487
7 poor head control 30 Very rare (1%) HP:0002421
8 generalized hypotonia 30 Very rare (1%) HP:0001290
9 intention tremor 30 Very rare (1%) HP:0002080
10 head titubation 30 Very rare (1%) HP:0002599
11 delayed cns myelination 30 Very rare (1%) HP:0002188
12 pendular nystagmus 30 Very rare (1%) HP:0012043
13 delayed ability to walk 30 Very rare (1%) HP:0031936
14 leukodystrophy 30 HP:0002415

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
dysmetria
poor head control
head titubation
delayed walking
more
Head And Neck Eyes:
myopia
nystagmus, pendular
abnormal visual evoked potentials (vep, in some patients)

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM®:

618688 (Updated 08-Dec-2022)

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

Genetic tests related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 28 TMEM63A

Anatomical Context for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

Organs/tissues related to Leukodystrophy, Hypomyelinating, 19, Transient Infantile:

MalaCards : Brain, Spinal Cord

Publications for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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

# Title Authors PMID Year
1
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation. 57 5
33785861 2021
2
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. 57 5
31587869 2019

Variations for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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

5
# 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
4 TMEM63A NM_014698.3(TMEM63A):c.1675T>C (p.Tyr559His) SNV Pathogenic
1698712 GRCh37: 1:226041452-226041452
GRCh38: 1:225853751-225853751
5 TMEM63A NM_014698.3(TMEM63A):c.2009A>G (p.Gln670Arg) SNV Uncertain Significance
1699410 GRCh37: 1:226037675-226037675
GRCh38: 1:225849974-225849974
6 TMEM63A NM_014698.3(TMEM63A):c.598G>A (p.Ala200Thr) SNV Uncertain Significance
1341715 GRCh37: 1:226054351-226054351
GRCh38: 1:225866651-225866651
7 TMEM63A NM_014698.3(TMEM63A):c.1378-49C>T SNV Benign
1342228 GRCh37: 1:226044766-226044766
GRCh38: 1:225857066-225857066
8 TMEM63A NM_014698.3(TMEM63A):c.1086-48del DEL Benign
1342229 GRCh37: 1:226048745-226048745
GRCh38: 1:225861045-225861045
9 TMEM63A NM_014698.3(TMEM63A):c.507C>T (p.Asp169=) SNV Benign
1342230 GRCh37: 1:226055595-226055595
GRCh38: 1:225867895-225867895

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

73
# Symbol AA change Variation ID SNP ID
1 TMEM63A p.Gly168Glu VAR_083043 rs1576101665
2 TMEM63A p.Ile462Asn VAR_083044 rs1576080546
3 TMEM63A p.Gly567Ser VAR_083045 rs1576074651

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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