loading...| Preferred Name |
Triple A syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_869 |
| alternative_term |
AAA syndrome Adrenal insufficiency-achalasia-alacrima syndrome Double A syndrome 3A syndrome Quaternary A syndrome Achalasia-addisonianism-alacrima syndrome Allgrove syndrome 4A syndrome 2A syndrome |
| definition |
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:615510 OMIM:231550 MeSH:C536009 ICD-10:E27.4 UMLS:C0271742 ICD-11:5A74.Y MeSH:C536008 |
| label |
Triple A syndrome |
| notation |
ORPHA:869 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_371445 http://www.orpha.net/ORDO/Orphanet_108961 http://www.orpha.net/ORDO/Orphanet_207015 http://www.orpha.net/ORDO/Orphanet_101960 |
| prefixIRI |
ORDO:Orphanet_869 |
| prefLabel |
Triple A syndrome |
| present_in |
Worldwide AND has_cases/families_value : 100.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_371445 http://www.orpha.net/ORDO/Orphanet_108961 http://www.orpha.net/ORDO/Orphanet_207015 http://www.orpha.net/ORDO/Orphanet_101960 |
| subClassOf |