ORPHA:158
Systemic primary carnitine deficiency
Synonyms: CDSP · CUD · Carnitine transporter defect · Carnitine uptake deficiency · Deficiency of plasma-membrane carnitine transporter · SPCD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Systemic primary carnitine deficiency | CDSP · CUD · Carnitine transporter defect · Carnitine uptake deficiency · Deficiency of plasma-membrane carnitine transporter · SPCD |
| fr | Déficit systémique primaire en carnitine | CDSP · CUD · Défaut de captation de la carnitine cellulaire · Déficit en transporteur de la carnitine · SPCD |
| de | Carnitin-Mangel, primärer systemischer | CDSP · CUD · Carnitin-Aufnahme-Mangel · Carnitin-Transporter-Mangel · Mangel des Plasmamembranständigen Carnitin-Transporters · SPCD |
| es | Deficiencia sistémica primaria de carnitina | CDSP · CUD · Defecto del transportador de carnitina · Defecto del transportador de carnitina de la membrana plasmática · Deficiencia de captación de carnitina · SPCD |
| it | Deficit primitivo sistemico di carnitina | CDSP · CUD · Deficit del trasportatore della carnitina · Deficit del trasportatore della carnitina della membrana plasmatica · Difetto di captazione della carnitina · SPCD |
| nl | Systemische primaire carnitinedeficiëntie | CDSP · CUD · Carnitine-opnamedeficiëntie · Carnitinetransporterdefect · Deficiëntie van de carnitinetransporter van het plasmamembraan · OCTN2-deficiëntie · SPCD |
| pt | Deficiência de carnitina primária sistémica | CDSP · CUD · Defeito do transportador de carnitina · Deficiência de captação de carnitina · Deficiência de transportador de carnitina da membrana plasmática |
| pl | Pierwotny Niedobór karnityny ogólnoustrojowej | CDSP · CUD · Defekt transportera karnityny · Deficyt wychwytu karnityny · Niedobór osoczowo-błonowego transportera karnityny · SPCD |
| cs | Systémový primární deficit karnitinu | CDSP · CUD · Defekt karnitinového transportéru · SPCD · Porucha transmembránového přenosu karnitinu · Porucha transmembránového přenašeče karnitinu |
| uk | Системний первинний дефіцит карнітину | Дефект транспортера карнітину · Первинний карнітиновий дефіцит · CDSP · CUD · Дефіцит плазматичного мембранного транспортера карнітину · SPCD |
| zh | 系统性原发性肉碱缺乏症 | 肉碱血浆-膜转运体缺陷 |
| tr | Sistemik primer karnitin eksikliği | CUD · CDSP · SPCD · Karnitin alım eksikliği · Karnitin taşıyıcı defekti · Plazma membran karnitin taşıyıcısı eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212140 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.00 | NTBT | specific | validated |
| MONDO | 0008919 | E | validated | |
| MeSH | C536778 | E | validated | |
| UMLS | C0342788 | E | validated | |
| GARD | 5104 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309130Disorder of carnitine cycle and carnitine transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217616Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC22A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:10969 | ENSG00000197375 | 603377 | 5q31.1 | solute carrier family 22 member 5 | 22989098[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Europe | Value and class | Validated | 22989098[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | United States | Value and class | Validated | 22989098[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Japan | Value and class | Validated | 10545605[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.83 / 100 000 | Australia | Value and class | Validated | 12788994[PMID] |
| Point prevalence | 6-9 / 10 000 | 77 / 100 000 | Faroe Islands | Value and class | Validated | 17417720[PMID] |
| Annual incidence | >1 / 1000 | 138.9 / 100 000 | Faroe Islands | Value and class | Validated | 17417720[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0069 / 100 000 | China | Value and class | Validated | 34103049[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.
6
HPO phenotypes
9 annotations · validated 2017-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006846 | Acute encephalopathy | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0002312 | Clumsiness | |
| HP:0001289 | Confusion | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0001324 | Muscle weakness | |
| HP:0000467 | Neck muscle weakness | |
| HP:0002013 | Vomiting | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 234182[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158
- This record as JSON: /data/d/158.json