loading...| Preferred Name |
citrullinemia, type II, adult-onset |
| Synonyms |
citrullinemia type II citrullinemia type 2 citrullinemia, adult-onset type II adult-onset citrullinemia type II CTLN2 adult-onset citrullinemia type 2 citrullinemia, type II, ADULT-onset citrin deficiency citrullinemia, type II, adult-onset |
| Definitions |
Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. TODO - merge into parent |
| ID |
http://purl.obolibrary.org/obo/MONDO_0011326 |
| comment |
TODO - merge into parent |
| database_cross_reference |
OMIM:603471 DOID:0070342 GARD:0010215 |
| definition |
Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. |
| exactMatch | |
| has_exact_synonym |
citrullinemia, adult-onset type II citrullinemia, type II, adult-onset |
| has_related_synonym |
citrullinemia type II citrullinemia type 2 adult-onset citrullinemia type II CTLN2 adult-onset citrullinemia type 2 citrullinemia, type II, ADULT-onset citrin deficiency |
| IAO_0000233 | |
| id |
MONDO:0011326 |
| in_subset | |
| label |
citrullinemia, type II, adult-onset |
| notation |
MONDO:0011326 |
| prefLabel |
citrullinemia, type II, adult-onset |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/603471 | Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 | LOOM |