ORPHA:565612
Primary triglyceride deposit cardiomyovasculopathy
Synonyms: P-TGCV · Primary neutral lipid storage disease with severe cardiovascular involvement
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary triglyceride deposit cardiomyovasculopathy | P-TGCV · Primary neutral lipid storage disease with severe cardiovascular involvement |
| fr | Cardiomyovasculopathie primaire à surcharge lipidique | Maladie à surcharge lipidique avec atteinte cardiovasculaire primaire sévère · P-TGCV |
| de | Primäre Neutralfett-Speicherkrankheit mit Kardiomyovaskulopathie | P-TGCV · Primäre Neutralfett-Speicherkrankheit mit schwerer kardiovaskulärer Beteiligung · Triglycerid-Speicher-Kardiomyovaskulopathie, primäre |
| es | Vasculopatía miocárdica primaria por depósito de triglicéridos | P-TGCV · Enfermedad primaria por depósito de lípidos neutros con afectación cardiovascular grave |
| it | Cardiomiovasculopatia primitiva da deposito di trigliceridi | Malattia da accumulo di lipidi neutri con grave coinvolgimento cardiovascolare |
| nl | Primaire cardiomyovasculopathie door depositie van triglyceriden | P-TGCV · Primaire neutrale lipidestapelingsziekte met ernstige cardiovasculaire betrokkenheid |
| pt | Cardiomiovasculopatia primária por deposição de triglicerídeos | Doença de armazenamento de lípidos neutros com envolvimento cardiovascular grave · TGCV |
| pl | Kardiomiowaskulopatia z depozytem trójglicerydów | Waskulopatia serca i mięśni ze złogami trójglicerydów · Pierwotna kardiomiowaskulopatia ze złogami trójglicerydów |
| cs | Kardiomyovaskulopatie s primárními triglyceridovými depozity | = en |
| uk | Первинна кардіоміоваскулопатія з відкладенням тригліцеридів | Хвороба накопичення нейтральних ліпідів з тяжким ураженням серцево-судинної системи · TGCV |
| zh | 甘油三酯沉积型心肌病 | 中性脂质贮积病伴重度心血管受累 |
| tr | Trigliserid deposu kardiyomiyovasküleropati | TGCV · Ağır kardiyovasküler tutulumu ile seyreden nötr lipid depo hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E75.5 | NTBT | attributed | validated |
| MONDO | 0035423 | E | validated | |
| UMLS | C5680124 | 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:692305Triglyceride deposit cardiomyovasculopathy
rare cardiac diseases; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPLA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30802 | ENSG00000177666 | 609059 | 11p15.5 | patatin like domain 2, triacylglycerol lipase | 29539587[PMID]_31186072[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT]_31186072[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
29 annotations · validated 2021-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031331 | Abnormal cardiomyocyte morphology | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0003756 | Skeletal myopathy | |
| HP:0001922 | Vacuolated lymphocytes | |
| Frequent (79-30%) | ||
| HP:0001430 | Abnormality of the calf musculature | |
| HP:0001435 | Abnormality of the shoulder girdle musculature | |
| HP:0001681 | Angina pectoris | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0005145 | Coronary artery stenosis | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002094 | Dyspnea | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0003077 | Hyperlipidemia | |
| HP:0009805 | Low-output congestive heart failure | |
| HP:0001962 | Palpitations | |
| HP:0032141 | Precordial pain | |
| Occasional (29-5%) | ||
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0001249 | Intellectual disability | |
| HP:0001733 | Pancreatitis | |
| HP:0031684 | Renal artery atherosclerosis | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0000407 | Sensorineural hearing impairment | |
| Very rare (<4-1%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001744 | Splenomegaly | |
| Excluded (0%) | ||
| HP:0008064 | Ichthyosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32564019[PMID]_31186072[PMID]_24836204[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/565612
- This record as JSON: /data/d/565612.json