Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Preferred Label : Hypomyelination with brainstem and spinal cord involvement and leg spasticity;

Symbol : HBSL;

CISMeF acronym : HBSL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aspartyl-trna synthetase deficiency;

Description : 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 achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord (summary by Taft et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aspartyl-tRNA synthetase 1 gene (DARS1, 603084.0001);

Prefixed ID : #615281;

Details

Origin ID

615281;

UMLS CUI

C4755254;

Currated CISMeF NLP mapping
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity [ORDO Disease]
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) [SNOMED CT concept]
Genes related to phenotype
- Aspartyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Brisk reflexes [HPO term]
- CNS hypomyelination [HPO term]
- Cherry red spot of the macula [HPO term]
- Childhood onset [HPO term]
- Dysarthria [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Irritability [HPO term]
- Leukoencephalopathy [HPO term]
- Lower limb spasticity [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spastic diplegia [HPO term]
- Spina bifida occulta [HPO term]
- Tethered cord [HPO term]
ORDO concept(s)
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) [SNOMED CT concept]

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