HLD17
MCID: LKD030
MIFTS: 25

Leukodystrophy, Hypomyelinating, 17 (HLD17)

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

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 17

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 17:

Name: Leukodystrophy, Hypomyelinating, 17 57 75 6
Hld17 57 75

Characteristics:

OMIM:

57
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:

32
leukodystrophy, hypomyelinating, 17:
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)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 17, also known as hld17, is related to lynch syndrome i. An important gene associated with Leukodystrophy, Hypomyelinating, 17 is AIMP2 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2). Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are seizures and gingival overgrowth

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Leukodystrophy, Hypomyelinating, 17

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 17

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
widely spaced teeth

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

Head And Neck Face:
prognathism
dysmorphic features, variable

Skeletal:
contractures

Growth Other:
poor overall growth

Respiratory:
breathing difficulties

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis

Head And Neck Nose:
low hanging columella
anteverted nostrils

Abdomen Gastrointestinal:
poor feeding

Head And Neck Mouth:
gum hypertrophy
thick lip vermilion

Head And Neck Head:
microcephaly (-10 sd)


Clinical features from OMIM:

618006

Human phenotypes related to Leukodystrophy, Hypomyelinating, 17:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 gingival overgrowth 32 HP:0000212
3 mandibular prognathia 32 HP:0000303
4 anteverted nares 32 HP:0000463
5 absent speech 32 HP:0001344
6 inability to walk 32 HP:0002540
7 intellectual disability, profound 32 HP:0002187
8 cerebellar atrophy 32 HP:0001272
9 hypoplasia of the corpus callosum 32 HP:0002079
10 cerebral atrophy 32 HP:0002059
11 leukodystrophy 32 HP:0002415
12 hypsarrhythmia 32 HP:0002521
13 low hanging columella 32 HP:0009765

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 17

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

Genetic Tests for Leukodystrophy, Hypomyelinating, 17

Anatomical Context for Leukodystrophy, Hypomyelinating, 17

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

41
Brain, Spinal Cord, Cerebellum, Cortex, Eye

Publications for Leukodystrophy, Hypomyelinating, 17

Variations for Leukodystrophy, Hypomyelinating, 17

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AIMP2 NM_006303.3(AIMP2): c.105C> A (p.Tyr35Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs529613640 GRCh38 Chromosome 7, 6009468: 6009468
2 AIMP2 NM_006303.3(AIMP2): c.105C> A (p.Tyr35Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs529613640 GRCh37 Chromosome 7, 6049099: 6049099

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

Sources for Leukodystrophy, Hypomyelinating, 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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