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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600649
http://purl.bioontology.org/ontology/OMIM/600649
|
|---|---|
| Preferred Name | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE |
| Synonyms |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
CPT II DEFICIENCY, HEPATIC
CPT2 DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
CPT II DEFICIENCY, HEPATIC
CPT2 DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR
|
|---|---|
| prefLabel | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
|
| Gene Symbol |
IIAE4
CPT2
|
| Scope Statement | Precipitated by febrile illness and fasting [MISCELLANEOUS]
Onset in infancy (3 months on) [MISCELLANEOUS]
Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, 600650.0001) [MOLECULAR BASIS]
See also lethal neonatal (608836) and adult forms (255110) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 600649
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1833511
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |