HLD17
MCID: LKD030
MIFTS: 25

Leukodystrophy, Hypomyelinating, 17 (HLD17)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 17

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 17:

Name: Leukodystrophy, Hypomyelinating, 17 57 72 29 6
Hld17 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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:

31
leukodystrophy, hypomyelinating, 17:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset 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 20-May-2021)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 17, is also known as hld17. An important gene associated with Leukodystrophy, Hypomyelinating, 17 is AIMP2 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2). Affiliated tissues include eye, spinal cord and cortex, and related phenotypes are gingival overgrowth and mandibular prognathia

UniProtKB/Swiss-Prot : 72 Leukodystrophy, hypomyelinating, 17: 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.

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 17

Human phenotypes related to Leukodystrophy, Hypomyelinating, 17:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 gingival overgrowth 31 HP:0000212
2 mandibular prognathia 31 HP:0000303
3 widely spaced teeth 31 HP:0000687
4 microcephaly 31 HP:0000252
5 anteverted nares 31 HP:0000463
6 short stature 31 HP:0004322
7 flexion contracture 31 HP:0001371
8 absent speech 31 HP:0001344
9 kyphoscoliosis 31 HP:0002751
10 hypoplasia of the corpus callosum 31 HP:0002079
11 leukodystrophy 31 HP:0002415
12 feeding difficulties 31 HP:0011968
13 cerebellar atrophy 31 HP:0001272
14 respiratory distress 31 HP:0002098
15 intellectual disability, profound 31 HP:0002187
16 cerebral atrophy 31 HP:0002059
17 hirsutism 31 HP:0001007
18 inability to walk 31 HP:0002540
19 hypsarrhythmia 31 HP:0002521
20 low hanging columella 31 HP:0009765
21 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
widely spaced teeth

Neurologic Central Nervous System:
absent speech
cerebellar atrophy
intellectual disability, profound
cerebral atrophy
inability to walk
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 20-May-2021)

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 29 AIMP2

Anatomical Context for Leukodystrophy, Hypomyelinating, 17

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 17:

40
Eye, Spinal Cord, Cortex, Cerebellum

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. 6 57
29215095 2018
2
p38 is essential for the assembly and stability of macromolecular tRNA synthetase complex: implications for its physiological significance. 57
12060739 2002

Variations for Leukodystrophy, Hypomyelinating, 17

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIMP2 NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter) SNV Pathogenic 428589 rs529613640 GRCh37: 7:6049099-6049099
GRCh38: 7:6009468-6009468
2 AIMP2 , EIF2AK1 NM_006303.4(AIMP2):c.694del (p.Leu232_Ile233insTer) Deletion Pathogenic 1029033 GRCh37: 7:6063051-6063051
GRCh38: 7:6023420-6023420
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 proliferation GO:0008285 8.62 EIF2AK1 AIMP2

Sources for Leukodystrophy, Hypomyelinating, 17

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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