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4 Hypomyelinating Leukodystrophy
mutation in HSPD1
Also Known As:
Leukodystrophy, Hypomyelinating, 4; Mitochondrial Hsp60 Chaperonopathy
Networked:
1
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Nervous System Diseases: 14178
Neurodegenerative Diseases: 42472
Nervous System Heredodegenerative Disorders: 63
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Demyelinating Diseases: 9131
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Central Nervous System Diseases: 4213
Brain Diseases: 15694
Leukoencephalopathies: 1557
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Metabolic Brain Diseases: 215
Inborn Metabolic Brain Diseases: 2
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Inborn Errors Metabolism: 1162
Inborn Metabolic Brain Diseases: 2
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Nervous System Heredodegenerative Disorders: 63
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Nutritional and Metabolic Diseases: 15
Metabolic Diseases: 10142
Mitochondrial Diseases: 21919
4 Hypomyelinating Leukodystrophy: 1
Inborn Errors Metabolism: 1162
Inborn Metabolic Brain Diseases: 2
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Metabolic Brain Diseases: 215
Inborn Metabolic Brain Diseases: 2
Hereditary Central Nervous System Demyelinating Diseases
4 Hypomyelinating Leukodystrophy: 1
Experts
1.
Damgaard, Bodil
: 1 article (10/2016)
2.
Hansen, Bente
: 1 article (10/2016)
3.
Kusk, Maria Schioldan
: 1 article (10/2016)
4.
Ostergaard, Elsebet
: 1 article (10/2016)
5.
Risom, Lotte
: 1 article (10/2016)
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to 4 Hypomyelinating Leukodystrophy:
1.
Chaperonin 60
IBA
10/01/2016 - "
The patients were found to have a homozygous missense mutation in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60), and the disorder was defined as the autosomal recessive mitochondrial Hsp60 chaperonopathy (MitCHAP-60) disease.
"