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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Fumaric aciduria | |
| Synonyms |
Fumarase deficiency |
|
| Definitions |
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_24 |
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| alternative_term |
Fumarase deficiency
|
|
| definition |
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
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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=24 |
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| has_age_of_onset |
Infancy Neonatal
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|
| has_inheritance |
Autosomal recessive
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| hasDbXref |
ICD-11:5C53.1 UMLS:C2936826 OMIM:606812 MeSH:C538191 ICD-10:E88.8 MedDRA:10088204
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|
| label |
Fumaric aciduria
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|
| notation |
ORPHA:24
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_254749 http://www.orpha.net/ORDO/Orphanet_225700 |
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| prefixIRI |
ORDO:Orphanet_24
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|
| prefLabel |
Fumaric aciduria
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|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 40.0 (Case(s))
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_254749 http://www.orpha.net/ORDO/Orphanet_225700 |
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| subClassOf |
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