HLD24
MCID: LKD037
MIFTS: 20

Leukodystrophy, Hypomyelinating, 24 (HLD24)

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, 24

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 24:

Name: Leukodystrophy, Hypomyelinating, 24 57 73 5
Hld24 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
de novo mutation
one patient has been reported (last curated april 2022)
infectious diseases, such as aspiration pneumonia, worsened neurological decline


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 24

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and loss of developmental milestones and ambulation. Brain imaging shows non- progressive severe cerebral atrophy, ventriculomegaly, hypomyelinating leukodystrophy, and thinning of the corpus callosum.

MalaCards based summary: Leukodystrophy, Hypomyelinating, 24, is also known as hld24. An important gene associated with Leukodystrophy, Hypomyelinating, 24 is ATP11A (ATPase Phospholipid Transporting 11A). Affiliated tissues include brain and tongue, and related phenotypes are seizure and hypothyroidism

OMIM®: 57 Hypomyelinating leukodystrophy-24 (HLD24) is an autosomal dominant disorder characterized by global developmental delay and neurologic deterioration (Segawa et al., 2021). (619851) (Updated 08-Dec-2022)

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 24

Human phenotypes related to Leukodystrophy, Hypomyelinating, 24:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 hypothyroidism 30 Very rare (1%) HP:0000821
3 developmental regression 30 Very rare (1%) HP:0002376
4 cataract 30 Very rare (1%) HP:0000518
5 global developmental delay 30 Very rare (1%) HP:0001263
6 microcephaly 30 Very rare (1%) HP:0000252
7 flexion contracture 30 Very rare (1%) HP:0001371
8 areflexia 30 Very rare (1%) HP:0001284
9 ventriculomegaly 30 Very rare (1%) HP:0002119
10 decreased motor nerve conduction velocity 30 Very rare (1%) HP:0003431
11 leukodystrophy 30 Very rare (1%) HP:0002415
12 severe short stature 30 Very rare (1%) HP:0003510
13 cerebral atrophy 30 Very rare (1%) HP:0002059
14 peripheral axonal neuropathy 30 Very rare (1%) HP:0003477
15 b lymphocytopenia 30 Very rare (1%) HP:0010976
16 widened subarachnoid space 30 Very rare (1%) HP:0012704
17 tongue fasciculations 30 Very rare (1%) HP:0001308
18 thin corpus callosum 30 Very rare (1%) HP:0033725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
global developmental delay
ventriculomegaly
cerebral atrophy
thin corpus callosum
seizures
more
Neurologic Peripheral Nervous System:
axonal neuropathy seen on emg

Head And Neck Eyes:
cataracts (present in neonatal period)

Endocrine Features:
hypothyroidism, mild (present in neonatal period)

Clinical features from OMIM®:

619851 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 24

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 24

Genetic Tests for Leukodystrophy, Hypomyelinating, 24

Anatomical Context for Leukodystrophy, Hypomyelinating, 24

Organs/tissues related to Leukodystrophy, Hypomyelinating, 24:

MalaCards : Brain, Tongue

Publications for Leukodystrophy, Hypomyelinating, 24

Articles related to Leukodystrophy, Hypomyelinating, 24:

# Title Authors PMID Year
1
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes. 57 5
34403372 2021

Variations for Leukodystrophy, Hypomyelinating, 24

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 24:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP11A NM_015205.3(ATP11A):c.250C>G (p.Gln84Glu) SNV Pathogenic
1686851 GRCh37: 13:113459358-113459358
GRCh38: 13:112805044-112805044

Expression for Leukodystrophy, Hypomyelinating, 24

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 24.

Pathways for Leukodystrophy, Hypomyelinating, 24

GO Terms for Leukodystrophy, Hypomyelinating, 24

Sources for Leukodystrophy, Hypomyelinating, 24

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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