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HDLS2
MCID: LKN034
MIFTS: 22
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Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 (HDLS2)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
insidious onset progressive disorder variable manifestations variable age at onset, usually adult disease course can be acute and result in early death disease course can be chronic and protracted one large swedish family has been reported (last curated december 2021) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Oral diseases Mental diseases |
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OMIM®: 57 Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012). For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820). (619661) (Updated 08-Dec-2022) MalaCards based summary: Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2, also known as leukoencephalopathy, hereditary diffuse, with spheroids, swedish type, is related to leukoencephalopathy, hereditary diffuse, with spheroids 1. An important gene associated with Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 is AARS1 (Alanyl-TRNA Synthetase 1). Related phenotypes are dystonia and leukoencephalopathy UniProtKB/Swiss-Prot: 73 An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects. |
Diseases in the Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 family:
Diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:30 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:619661 (Updated 08-Dec-2022) |
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Articles related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:
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Genes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2:5
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2.
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