loading...| Preferred Name |
CITRULLINEMIA, TYPE II, ADULT-ONSET |
| Synonyms |
CITRIN DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/603471 |
| altLabel |
CITRIN DEFICIENCY CTLN2 |
| cui |
C1863844 |
| Gene Locus |
7q21.3 |
| Gene Symbol |
NICCD SLC25A13 CTLN2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU033362 http://purl.bioontology.org/ontology/OMIM/MTHU008946 http://purl.bioontology.org/ontology/OMIM/MTHU003630 http://purl.bioontology.org/ontology/OMIM/MTHU037221 http://purl.bioontology.org/ontology/OMIM/MTHU038623 http://purl.bioontology.org/ontology/OMIM/MTHU002553 http://purl.bioontology.org/ontology/OMIM/MTHU033358 http://purl.bioontology.org/ontology/OMIM/MTHU033363 http://purl.bioontology.org/ontology/OMIM/MTHU033361 http://purl.bioontology.org/ontology/OMIM/MTHU002080 http://purl.bioontology.org/ontology/OMIM/MTHU037248 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU003881 http://purl.bioontology.org/ontology/OMIM/MTHU002062 http://purl.bioontology.org/ontology/OMIM/MTHU024633 http://purl.bioontology.org/ontology/OMIM/MTHU033356 http://purl.bioontology.org/ontology/OMIM/MTHU033359 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
603471 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CITRULLINEMIA, TYPE II, ADULT-ONSET |
| Scope Statement |
Natural aversion to carbohydrates [MISCELLANEOUS] Favoring of fat and protein [MISCELLANEOUS] 1 in 19,000 in Japan [MISCELLANEOUS] Caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 (SLC25A13, 603859.0001) [MOLECULAR BASIS] 1 in 17,000 in China [MISCELLANEOUS] Mean age of diagnosis is 40 years (range 11 to 79 years) [MISCELLANEOUS] Increased frequency in individuals of Asian descent [MISCELLANEOUS] Some patients may be asymptomatic [MISCELLANEOUS] 1 in 50,000 in Korea [MISCELLANEOUS] |
| tui |
T047 |