HLD6
MCID: LKD019
MIFTS: 52
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Leukodystrophy, Hypomyelinating, 6 (HLD6)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 6:
Characteristics:Orphanet epidemiological data:58
hypomyelination with atrophy of basal ganglia and cerebellum
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable severity progressive disorder most cases result from de novo mutation initial development may appear normal onset in infancy up to 3 years HPO:31
leukodystrophy, hypomyelinating, 6:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic Onset and clinical course variable expressivity progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
33
Orphanet: 58
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OMIM :
56
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. (612438)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 6, also known as habc, is related to hypomyelinating leukodystrophy and tubb4a-related leukodystrophy, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 6 is TUBB4A (Tubulin Beta 4A Class IVa), and among its related pathways/superpathways are Vesicle-mediated transport and Transmission across Chemical Synapses. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are hearing impairment and nystagmus Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has material basis in heterozygous mutation in the TUBB4A gene on chromosome 19p13. NIH Rare Diseases : 52 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and worsen over time. Severity of symptoms and rate of progression can vary. Symptoms may include delayed motor development, learning difficulties, upper-motor neuron dysfunction (spasticity , exaggerated reflexes, and Babinski signs ), dystonia , rigidity, involuntary movements, and speech and swallowing problems. H-ABC is caused by a mutation in the TUBB4A gene . Inheritance is autosomal dominant , but most cases are due to a new mutation occurring for the first time in a person with the condition. Treatment may involve taking medications to ease symptoms, physical therapy , and surgery when dystonia does not improve with medication. UniProtKB/Swiss-Prot : 73 Leukodystrophy, hypomyelinating, 6: 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. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 6:31 (show all 23)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612438UMLS symptoms related to Leukodystrophy, Hypomyelinating, 6:seizures, ataxia, tremor, muscle rigidity, muscle spasticity MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 6:45
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Interventional clinical trials:
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 6:40
Cerebellum,
Brain,
Eye
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Articles related to Leukodystrophy, Hypomyelinating, 6:(show all 16)
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 6:6 (show top 50) (show all 93)
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 6:73
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 6.
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Pathways related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:(show all 18)
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Cellular components related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:(show all 35)
Biological processes related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:(show all 47)
Molecular functions related to Leukodystrophy, Hypomyelinating, 6 according to GeneCards Suite gene sharing:
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