|
HLD9
MCID: LKD016
MIFTS: 35
|
Leukodystrophy, Hypomyelinating, 9 (HLD9)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 9:
Characteristics:Orphanet epidemiological data:58
rars-related autosomal recessive hypomyelinating leukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in the first year of life six patients from 5 families have been reported (last curated november 2018) HPO:31
leukodystrophy, hypomyelinating, 9:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases |
|
OMIM :
56
Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616140)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 9, also known as hld9, is related to robinow syndrome, autosomal recessive 1 and leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including ataxia and action tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 9 is RARS1 (Arginyl-TRNA Synthetase 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, mild Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has material basis in compound heterozygous mutation in the RARS gene on chromosome 5q34. UniProtKB/Swiss-Prot : 73 Leukodystrophy, hypomyelinating, 9: An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI. |
Human phenotypes related to Leukodystrophy, Hypomyelinating, 9:58 31 (showing 31, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616140UMLS symptoms related to Leukodystrophy, Hypomyelinating, 9:ataxia, action tremor GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 9 according to GeneCards Suite gene sharing:26 (showing 13, show less)
MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 9:45 (showing 1, show less)
|
|
|
MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 9:40
Brain,
Eye
|
Articles related to Leukodystrophy, Hypomyelinating, 9:(showing 3, show less)
|
Genes related to Leukodystrophy, Hypomyelinating, 9 (1 elite genes):(showing 6, show less) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 9:6 (showing 9, show less)
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 9:73 (showing 2, show less)
|
|
Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 9.
|
Biological processes related to Leukodystrophy, Hypomyelinating, 9 according to GeneCards Suite gene sharing:(showing 1, show less)
|
|