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HLD8
MCID: LKD018
MIFTS: 28
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Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD8)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...
MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:
Name: Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism
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76
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Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype slowly progressive or nonprogressive onset in early childhood (2 to 4 years) HPO:33
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism:
Onset and clinical course phenotypic variability Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
34
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OMIM
:
58
Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).
See also HLD7 (607694), which has similar features and is caused by mutation in the POLR3A gene (614258) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (614381)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as hld8, is related to pol iii-related leukodystrophies and polr3-related leukodystrophy, and has symptoms including tremor, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3B (RNA Polymerase III Subunit B). Affiliated tissues include brain, and related phenotypes are spasticity and hypodontia Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has material basis in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. UniProtKB/Swiss-Prot : 76 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism: An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. |
Diseases in the Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism family:
Diseases related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...
Human phenotypes related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:33 (show all 20)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:614381UMLS symptoms related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:tremor, dysdiadochokinesis, cerebellar ataxia GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:27
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:42
Brain
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Genes related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:76
ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:6 (show all 24)
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism.
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