Carnitine palmitoyl transferase II deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CPT2 CPTII Carnitine palmitoyltransferase deficiency type 2 |
| Number of Symptoms | 24 |
| OrphanetNr: | 157 |
| OMIM Id: |
255110
600649 608836 |
| ICD-10: |
E71.3 |
| UMLs: |
C0342790 |
| MeSH: |
C535589 |
| MedDRA: |
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| Snomed: |
238002005 |
Prevalence, inheritance and age of onset:
| Prevalence: | > 300 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of carnitine cycle and carnitine transport
-Rare genetic disease Muscular lipidosis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000107) | Renal cyst | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0002913) | Myoglobinuria | 22 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | Frequent [Orphanet] | 232 / 7739 | |||
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(HPO:0000077) | Abnormality of the kidney | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0004372) | Reduced consciousness/confusion | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0012639) | Abnormality of nervous system morphology | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001695) | Cardiac arrest | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Frequent [Orphanet] | 226 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0001943) | Hypoglycemia | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0003552) | Muscle stiffness | 23 / 7739 | ||||
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(HPO:0003394) | Muscle cramps | 106 / 7739 | ||||
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(HPO:0003201) | Rhabdomyolysis | 27 / 7739 | ||||
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(HPO:0003326) | Myalgia | Very frequent [Orphanet] | 143 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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