Triglyceride deposit cardiomyovasculopathy
Synonyms: Neutral lipid storage disease with severe cardiovascular involvement · TGCV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown
- Status
- active
A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Triglyceride deposit cardiomyovasculopathy | Neutral lipid storage disease with severe cardiovascular involvement · TGCV |
| fr | Cardiomyovasculopathie à surcharge lipidique | Maladie à surcharge lipidique avec atteinte cardiovasculaire sévère · TGCV |
| de | Triglycerid-Speicher-Kardiomyovaskulopathie | Neutralfett-Speicherkrankheit mit schwerer kardiovaskulärer Beteiligung · TGCV |
| es | Vasculopatía miocárdica por depósito de triglicéridos | Enfermedad por depósito de lípidos neutros con afectación cardiovascular grave · TGCV |
| it | Cardiomiovasculopatia da depositi di trigliceridi | Malattia da accumulo di lipidi neutri con grave coinvolgimento cardiovascolare · TGCV |
| nl | Cardiomyovasculopathie met depositie van triglyceriden | Neutrale lipidestapelingsziekte met ernstige cardiovasculaire betrokkenheid · TGCV |
| pt | Cardiomiovasculopatia devido a depósito de triglicéridos | Doença de armazenamento de lípidos neutros com envolvimento cardiovascular grave · TGCV |
| pl | Kardiomiowaskulopatia z odkładaniem trójglicerydów | = en |
| cs | Kardiomyovaskulopatie s triglyceridovými ložisky | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E78.8+ | NTBT | attributed | validated |
| ICD-10 | I43.1* | NTBT | attributed | validated |
| ICD-11 | BC43.Y | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:165Neutral lipid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:506225Rare disorder potentially indicated for heart transplant
rare transplant-related disorders - ORPHA:217678Unclassified cardiomyopathy
rare cardiac diseases
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PNPLA2 | ORPHA:565612Primary triglyceride deposit cardiomyovasculopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:30802 | ENSG00000177666 | 609059 | 11p15.5 | patatin like domain 2, triacylglycerol lipase | 29539587[PMID]_31186072[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 991 cases | Japan | Case(s) | Validated | 40155256[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/692305
- This record as JSON: /data/d/692305.json