ORPHA:228308
Carnitine palmitoyl transferase II deficiency, neonatal form
Synonyms: CPT2, lethal systemic form · CPT2, neonatal form · CPTII, lethal systemic form · CPTII, neonatal form · Carnitine palmitoyl transferase II deficiency, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, neonatal form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnitine palmitoyl transferase II deficiency, neonatal form | CPT2, lethal systemic form · CPT2, neonatal form · CPTII, lethal systemic form · CPTII, neonatal form · Carnitine palmitoyl transferase II deficiency, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, neonatal form |
| fr | Déficit en carnitine palmitoyltransférase II, forme néonatale | CPT2 forme néonatale · CPT2 forme systémique létale · CPTII forme néonatale · CPTII forme systémique létale · Déficit en carnitine palmitoyltransférase II, forme systémique létale · Déficit en carnitine palmitoyltransférase type 2, forme néonatale · Déficit en carnitine palmitoyltransférase type 2, forme systémique létale |
| de | Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form | CPTII, neonatale Form · Carnitin-Palmitoyl-Transferase II-Mangel, letale systemische Form · Carnitin-Palmitoyl-Transferase-Mangel Typ 2, letale systemische Form · Carnitin-Palmitoyl-Transferase-Mangel Typ 2, neonatale Form · CPT2, letale systemische Form · CPT2, neonatale Form · CPTII, letale systemische Form |
| es | Deficiencia de carnitina palmitoiltransferasa II, forma neonatal | CPT2, forma neonatal · CPT2, forma sistémica letal · CPTII, forma neonatal · CPTII, forma sistémica letal · Deficiencia de carnitina palmitoiltransferasa II, forma sistémica letal · Deficiencia de carnitina palmitoiltransferasa tipo 2, forma neonatal · Deficiencia de carnitina palmitoiltransferasa tipo 2, forma sistémica letal |
| it | Deficit di carnitina-palmitoil transferasi II, forma neonatale | CPT2, forma neonatale · CPT2, forma sistemica letale · CPTII, forma neonatale · CPTII, forma sistemica letale · Deficit di carnitina-palmitoil transferasi II, forma sistemica letale · Deficit di carnitina-palmitoil transferasi tipo 2, forma neonatale · Deficit di carnitina-palmitoil transferasi tipo 2, forma sistemica letale |
| nl | Carnitinepalmitoyltransferase II-deficiëntie, neonatale vorm | CPT2, dodelijke systemische vorm · CPT2, neonatale vorm · CPTII, dodelijke systemische vorm · CPTII, neonatale vorm · Carnitinepalmitoyltransferase II-deficiëntie, letale systemische vorm · Carnitinepalmitoyltransferasedeficiëntie type 2, letale systemische vorm · Carnitinepalmitoyltransferasedeficiëntie type 2, neonatale vorm |
| pt | Deficiência da carnitina-palmitoil transferase 2, forma neonatal | |
| pl | Niedobór palmitylotransferazy karnityny II, postać noworodkowa | CPT2, postać noworodkowa · CPT2, śmiertelna postać układowa · CPTII, postać noworodkowa · CPTII, śmiertelna postać układowa · Niedobór palmitylotransferazy karnityny II, śmiertelna postać układowa · Niedobór palmitylotransferazy karnityny typu 2, postać noworodkowa · Niedobór palmitylotransferazy karnityny typu 2, śmiertelna postać układowa |
| cs | Deficit karnitinpalmitoyltransferázy II, neonatální forma | CPT2, letální systémová forma · CPT2, neonatální forma · CPTII, letální systémová forma · CPTII, neonatální forma · Deficit karnitin palmitoyltransferázy II, letální systémová forma · Deficit karnitinpalmitoyltransferázy 2, letální systémová forma · Deficit karnitin palmitoyltransferázy 2, neonatální forma |
| uk | Дефіцит карнітинпальмітоілтрансферази II, неонатальна форма | Дефіцит карнітинпальмітоїлтрансферази 2 типу, летальна системна форма · Дефіцит карнітинпальмітоїлтрансферази 2 типу, неонатальна форма · Дефіцит карнітинпальмітоїлтрансферази II, летальна системна форма · СРТ2, летальна системна форма · CPT2, неонатальна форма · CPTII, летальна системна форма · CPTII, неонатальна форма |
| zh | 新生儿型肉碱棕榈酰转移酶II缺乏症 | 致死性系统性肉碱棕榈酰转移酶缺乏症2型 |
| tr | Karnitin palmitoil transferaz II eksikliği, yenidoğan formu | CPT2, yenidoğan formu · CPTII, yenidoğan formu · CPT2, letal sistemik form · CPTII, letal sistemik form · Karnitin palmitoil transferaz eksikliği tip 2, yenidoğan formu · Karnitin palmitoil transferaz II eksikliği, letal sistemik form · Karnitin palmitoil transferaz eksikliği tip 2, letal sistemik form |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608836 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.00 | NTBT | index | validated |
| MONDO | 0012136 | E | validated | |
| MeSH | C563463 | E | validated | |
| UMLS | C1833518 | 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 | 20 families | Worldwide | Family(ies) | Validated | 20301431[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
43 annotations · validated 2020-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008315 | Decreased plasma free carnitine | |
| HP:0011936 | Decreased plasma total carnitine | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0002913 | Myoglobinuria | |
| HP:0040320 | Red-brown urine | |
| HP:0012380 | Reduced carnitine O-palmitoyltransferase activity | |
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002514 | Cerebral calcification | |
| HP:0000800 | Cystic renal dysplasia | |
| HP:0003215 | Dicarboxylic aciduria | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0011968 | Feeding difficulties | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0003077 | Hyperlipidemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0001640 | Cardiomegaly | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001259 | Coma | |
| HP:0001290 | Generalized hypotonia | |
| HP:0012722 | Heart block | |
| HP:0006559 | Hepatic calcification | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002705 | High, narrow palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0001987 | Hyperammonemia | |
| HP:0007229 | Intracerebral periventricular calcifications | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001302 | Pachygyria | |
| HP:0002126 | Polymicrogyria | |
| HP:0008682 | Renal tubular epithelial necrosis | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301431[PMID]_28054946[PMID]_11477613[PMID]_18550408[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228308
- This record as JSON: /data/d/228308.json