loading...| Preferred Name |
Mevalonic aciduria |
|
| Synonyms |
Complete mevalonate kinase deficiency |
|
| Definitions |
A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_29 |
|
| alternative_term |
Complete mevalonate kinase deficiency MVA |
|
| definition |
A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:5C52.10 OMIM:610377 UMLS:C1959626 MedDRA:10072219 ICD-10:E88.8 |
|
| label |
Mevalonic aciduria |
|
| notation |
Clinical subtype ORPHA:29 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_309025 |
|
| prefixIRI |
ORDO:Orphanet_29 |
|
| prefLabel |
Mevalonic aciduria |
|
| present_in |
Worldwide AND has_cases/families_value : 30.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_309025 |
|
| subClassOf |