loading...| Preferred Name |
Glutaryl-CoA dehydrogenase deficiency |
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| Synonyms |
Glutaryl-coenzyme A dehydrogenase deficiency |
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| Definitions |
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_25 |
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| alternative_term |
Glutaryl-coenzyme A dehydrogenase deficiency GCDHD GA1 Glutaric acidemia type 1 Glutaric aciduria type 1 |
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| definition |
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:E72.3 OMIM:231670 ICD-11:5C50.E1 UMLS:C0268595 MeSH:C536833 |
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| label |
Glutaryl-CoA dehydrogenase deficiency |
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| notation |
ORPHA:25 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_25 |
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| prefLabel |
Glutaryl-CoA dehydrogenase deficiency |
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| present_in |
Specific population AND has_point_prevalence_average_value : 333.0 AND has_point_prevalence_range : >1 / 1000 Specific population AND has_birth_prevalence_average_value : 4.3 AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 2.85 AND has_birth_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 0.56 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 0.76 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 0.48 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |