Leukodystrophy, hypomyelinating, 6

Preferred Label : Leukodystrophy, hypomyelinating, 6;

Symbol : HLD6;

CISMeF acronym : HABC; HLD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum; HABC;

Description : Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by Simons et al., 2013). Hypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits (van der Knaap et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin, beta-4A gene (TUBB4A, 602662.0002);

Prefixed ID : #612438;

Details

Origin ID

612438;

UMLS CUI

C2676244;

Currated CISMeF NLP mapping
- Hypomyelinating Leukodystrophy-6 [NCIt concept]
- Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) [SNOMED CT concept]
- Hypomyelination with atrophy of basal ganglia and cerebellum [ORDO Disease]
- Hypomyelination with atrophy of basal ganglia or cerebellum [ICD-11 More detail]
- hypomyelinating leukodystrophy 6 [DO Concept]
- leukodystrophy, hypomyelinating, 6 [MeSH concept]
- leukodystrophy, hypomyelinating, 6 [MeSH Supplementary Concept]
DO Cross reference
- hypomyelinating leukodystrophy 6 [DO Concept]
Genes related to phenotype
- Tubulin, beta-4a [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral hypomyelination [HPO term]
- Choreoathetosis [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Poor speech [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Specific learning disability [HPO term]
- Sporadic [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Hypomyelination with atrophy of basal ganglia and cerebellum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelinating Leukodystrophy-6 [NCIt concept]
- Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) [SNOMED CT concept]
- Hypomyelination with atrophy of basal ganglia and cerebellum [ORDO Disease]
- hypomyelinating leukodystrophy 6 [DO Concept]
- leukodystrophy, hypomyelinating, 6 [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 6 [MeSH concept]

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