ORPHA:228302
Carnitine palmitoyl transferase II deficiency, myopathic form
Synonyms: Carnitine palmitoyl transferase II deficiency, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, myopathic form · CPT2, adult-onset form · CPT2, myopathic form · CPTII, adult-onset form · CPTII, myopathic form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnitine palmitoyl transferase II deficiency, myopathic form | Carnitine palmitoyl transferase II deficiency, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, adult-onset form · Carnitine palmitoyl transferase deficiency type 2, myopathic form · CPT2, adult-onset form · CPT2, myopathic form · CPTII, adult-onset form · CPTII, myopathic form |
| fr | Déficit en carnitine palmitoyltransférase II, forme myopathique | CPT2 forme adulte · CPT2 forme myopathique · CPTII forme adulte · CPTII forme myopathique · Déficit en carnitine palmitoyltransférase II, forme adulte · Déficit en carnitine palmitoyltransférase type 2, forme adulte · Déficit en carnitine palmitoyltransférase type 2, forme myopathique |
| de | Carnitin-Palmitoyl-Transferase II-Mangel, myopathische Form | CPT2, adulte Form · CPT2, myopathische Form · CPTII des Erwachsenen · CPTII, myopathische Form · Carnitin-Palmitoyl-Transferase II-Mangel des Erwachsenen · Carnitin-Palmitoyl-Transferase-Mangel Typ 2 des Erwachsenen · Carnitin-Palmitoyl-Transferase-Mangel Typ 2, myopathische Form |
| es | Deficiencia de carnitina palmitoiltransferasa II, forma miopática | CPT2, forma adulta · CPT2, forma miopática · CPTII, forma adulta · CPTII, forma miopática · Deficiencia de carnitina palmitoiltransferasa II, forma adulta · Deficiencia de carnitina palmitoiltransferasa tipo 2, forma adulta · Deficiencia de carnitina palmitoiltransferasa tipo 2, forma miopática |
| it | Deficit di carnitina-palmitoil transferasi II, forma miopatica | CPT2, forma a esordio nell'età adulta · CPT2, forma miopatica · CPTII, forma a esordio nell'età adulta · CPTII, forma miopatica · Deficit di carnitina-palmitoil transferasi II, forma a esordio nell'età adulta · Deficit di carnitina-palmitoil transferasi tipo 2, forma a esordio nell'età adulta · Deficit di carnitina-palmitoil transferasi tipo 2, forma miopatica |
| nl | Carnitinepalmitoyltransferase II-deficiëntie, myopathische vorm | CPT2, myopathische vorm · CPT2, volwassen aanvang vorm · CPTII, myopathische vorm · CPTII, volwassen aanvang vorm · Carnitinepalmitoyltransferase II-deficiëntie, volwassen aanvang vorm · Carnitinepalmitoyltransferasedeficiëntie type 2, myopathische vorm · Carnitinepalmitoyltransferasedeficiëntie type 2, volwassen aanvang vorm |
| pt | Deficiência da carnitina-palmitoil transferase 2, forma miopática | |
| pl | Niedobór palmitylotransferazy karnityny II, postać miopatyczna | CPT2, postać dorosłych · CPT2, postać miopatyczna · CPTII, postać dorosłych · CPTII, postać miopatyczna · Niedobór palmitylotransferazy karnityny II, postać dorosłych · Niedobór palmitylotransferazy karnityny typu 2, postać dorosłych · Niedobór palmitylotransferazy karnityny typu 2, postać miopatyczna |
| cs | Deficit karnitinpalmitoyltransferázy II, myopatická forma | CPT2, forma se zacátkem v dospelosti/ adultní forma · CPT2, myopatická forma · CPTII, myopatická forma · Deficit karnitinpalmitoyltransferázy 2, myopatická forma · CPT2, forma se začátkem v dospělosti/ adultní forma · CPTII, forma se začátkem v dospělosti · Deficit karnitinpalmitoyltransferázy II, forma se začátkem v dospělosti · Deficit karnitinpalmitoyltransferázy, typ 2, forma se začátkem v dospělosti |
| uk | Дефіцит карнітинпальмітоілтрансферази II, міопатична форма | Дефіцит карнітинпальмітоїлтрансферази 2 типу, форма, що починається у дорослих · Дефіцит карнітинпальмітоїлтрансферази 2 типу, міопатична форма · Дефіцит карнітинпальмітоілтрансферази II, форма, що починається у дорослих · СРТ2, форма, що починається у дорослих · СРТ2, міопатична форма · CPTII, форма для дорослих · CPTII, міопатична форма |
| zh | 肌病型肉碱棕榈酰转移酶II缺乏症 | 成人起病型肉碱棕榈酰转移酶缺乏症2型 |
| tr | Karnitin palmitoil transferaz II eksikliği, miyopatik form | CPT2, miyopatik form · CPTII, miyopatik form · CPT2, erişkin başlangıçlı formu · CPTII, erişkin başlangıçlı formu · Karnitin palmitoil transferaz II eksikliği, erişkin başlangıçlı formu · Karnitin palmitoil transferaz eksikliği tip 2, miyopatik form · Karnitin palmitoil transferaz eksikliği tip 2, erişkin başlangıçlı formu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255110 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.00 | NTBT | index | validated |
| MONDO | 0009704 | E | validated | |
| MeSH | C563461 | E | validated | |
| UMLS | C1833508 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:157Carnitine palmitoyltransferase II deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CPT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2330 | ENSG00000157184 | 600650 | 1p32.3 | carnitine palmitoyltransferase 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 20301431[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301431[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2020-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003546 | Exercise intolerance | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0003326 | Myalgia | |
| HP:0002913 | Myoglobinuria | |
| HP:0040320 | Red-brown urine | |
| HP:0012380 | Reduced carnitine O-palmitoyltransferase activity | |
| Frequent (79-30%) | ||
| HP:0003455 | Elevated circulating long chain fatty acid concentration | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0001324 | Muscle weakness | |
| Occasional (29-5%) | ||
| HP:0003449 | Cold-induced muscle cramps | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0003394 | Muscle spasm | |
| HP:0000083 | Renal insufficiency | |
| HP:0008682 | Renal tubular epithelial necrosis | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0001970 | Tubulointerstitial nephritis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301431[PMID]_15642848[PMID]_24398345[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228302
- This record as JSON: /data/d/228302.json