Hypomyelination with brain stem and spinal cord involvement and leg spasticity

General Information (adopted from Orphanet):

Synonyms, Signs: HBSL
ASPARTYL-tRNA SYNTHETASE DEFICIENCY
Number of Symptoms 17
OrphanetNr: 363412
OMIM Id: 615281
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
3
 (HPO:0003487) Babinski sign 179 / 7739
4
 (HPO:0001257) Spasticity 251 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0001347) Hyperreflexia 363 / 7739
7
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
8
 (HPO:0003593) Infantile onset 249 / 7739
9
 (OMIM) White matter lesions in the supratentorial white matter, brainstem, cerebellum, and spinal cord 1 / 7739
10
 (OMIM) Independent walking never achieved 1 / 7739
11
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
12
 (OMIM) Pallor of the optic disks (in some patients) 1 / 7739
13
 (HPO:0003429) CNS hypomyelination 21 / 7739
14
 (HPO:0002352) Leukoencephalopathy 32 / 7739
15
 (HPO:0003676) Progressive disorder 148 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Spasticity, lower limbs greater than upper limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypomyelination with brainstem and spinal cord involvement and leg spasticity is an autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to ...
Clinical Description OMIM Taft et al. (2013) reported 10 patients from 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy. The families were from various countries, including Pakistan, India, Australia, the U.K., and the U.S., and some were identified ...
Molecular genetics OMIM In 10 patients from 7 unrelated families of various origins with hypomyelination with brainstem and spinal cord involvement and spasticity, Taft et al. (2013) identified homozygous or compound heterozygous mutations in the DARS gene (see, e.g., 603084.0001-603084.0006). The ...