HLD17
MCID: LKD030
MIFTS: 28

Leukodystrophy, Hypomyelinating, 17 (HLD17)

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, 17

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 17:

Name: Leukodystrophy, Hypomyelinating, 17 57 73 28 5 38
Hld17 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
progressive disorder
death in childhood may occur
two consanguineous families of indian descent have been reported (last curated june 2018)


HPO:

30
leukodystrophy, hypomyelinating, 17:
Onset and clinical course progressive


Classifications:



Summaries for Leukodystrophy, Hypomyelinating, 17

OMIM®: 57 Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (618006) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 17, also known as hld17, is related to hypomyelinating leukodystrophy and leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 17 is AIMP2 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2). Affiliated tissues include spinal cord, cortex and cerebellum, and related phenotypes are seizure and hyperreflexia

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures.

Related Diseases for Leukodystrophy, Hypomyelinating, 17

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 17

Human phenotypes related to Leukodystrophy, Hypomyelinating, 17:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 hyperreflexia 30 Very rare (1%) HP:0001347
3 gingival overgrowth 30 Very rare (1%) HP:0000212
4 mandibular prognathia 30 Very rare (1%) HP:0000303
5 widely spaced teeth 30 Very rare (1%) HP:0000687
6 thick vermilion border 30 Very rare (1%) HP:0012471
7 microcephaly 30 Very rare (1%) HP:0000252
8 anteverted nares 30 Very rare (1%) HP:0000463
9 flexion contracture 30 Very rare (1%) HP:0001371
10 absent speech 30 Very rare (1%) HP:0001344
11 growth delay 30 Very rare (1%) HP:0001510
12 kyphoscoliosis 30 Very rare (1%) HP:0002751
13 profound global developmental delay 30 Very rare (1%) HP:0012736
14 feeding difficulties 30 Very rare (1%) HP:0011968
15 hirsutism 30 Very rare (1%) HP:0001007
16 inability to walk 30 Very rare (1%) HP:0002540
17 low hanging columella 30 Very rare (1%) HP:0009765
18 leukodystrophy 30 HP:0002415
19 cerebellar atrophy 30 HP:0001272
20 intellectual disability, profound 30 HP:0002187
21 cerebral atrophy 30 HP:0002059
22 hypoplasia of the corpus callosum 30 HP:0002079
23 hypsarrhythmia 30 HP:0002521

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Teeth:
widely spaced teeth

Neurologic Central Nervous System:
absent speech
cerebellar atrophy
intellectual disability, profound
cerebral atrophy
hypsarrhythmia
more
Skin Nails Hair Hair:
hirsutism

Head And Neck Face:
prognathism
dysmorphic features, variable

Growth Other:
poor overall growth

Head And Neck Mouth:
gum hypertrophy
thick lip vermilion

Respiratory:
breathing difficulties

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis

Head And Neck Nose:
low hanging columella
anteverted nostrils

Abdomen Gastrointestinal:
poor feeding

Skeletal:
contractures

Head And Neck Head:
microcephaly (-10 sd)

Clinical features from OMIM®:

618006 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 17

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 17

Genetic Tests for Leukodystrophy, Hypomyelinating, 17

Genetic tests related to Leukodystrophy, Hypomyelinating, 17:

# Genetic test Affiliating Genes
1 Leukodystrophy, Hypomyelinating, 17 28 AIMP2

Anatomical Context for Leukodystrophy, Hypomyelinating, 17

Organs/tissues related to Leukodystrophy, Hypomyelinating, 17:

MalaCards : Spinal Cord, Cortex, Cerebellum, Brain

Publications for Leukodystrophy, Hypomyelinating, 17

Articles related to Leukodystrophy, Hypomyelinating, 17:

# Title Authors PMID Year
1
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. 57 5
29215095 2018
2
p38 is essential for the assembly and stability of macromolecular tRNA synthetase complex: implications for its physiological significance. 57
12060739 2002
3
Knockdown of Golgi Stress-Responsive Caspase-2 Ameliorates HLD17-Associated AIMP2 Mutant-Mediated Inhibition of Oligodendroglial Cell Morphological Differentiation. 62
34523057 2022

Variations for Leukodystrophy, Hypomyelinating, 17

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 17:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIMP2, EIF2AK1 NM_006303.4(AIMP2):c.575-2A>G SNV Pathogenic
225106 rs869312968 GRCh37: 7:6062932-6062932
GRCh38: 7:6023301-6023301
2 AIMP2 NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter) SNV Likely Pathogenic
428589 rs529613640 GRCh37: 7:6049099-6049099
GRCh38: 7:6009468-6009468
3 AIMP2 NM_006303.4(AIMP2):c.74A>G (p.Tyr25Cys) SNV Likely Pathogenic
982311 GRCh37: 7:6049068-6049068
GRCh38: 7:6009437-6009437

Expression for Leukodystrophy, Hypomyelinating, 17

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 17.

Pathways for Leukodystrophy, Hypomyelinating, 17

GO Terms for Leukodystrophy, Hypomyelinating, 17

Biological processes related to Leukodystrophy, Hypomyelinating, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 8.92 EIF2AK1 AIMP2

Sources for Leukodystrophy, Hypomyelinating, 17

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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