Primary triglyceride deposit cardiomyovasculopathy
disease diseaseOn this page
Also known as P-TGCVprimary neutral lipid storage disease with severe cardiovascular involvement
Summary
Primary triglyceride deposit cardiomyovasculopathy (MONDO:0035423) is a disease and 1 clinical trial. A subtype of triglyceride deposit cardiomyovasculopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 29
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 200 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
29 HPO clinical features (Orphanet curated; top 29 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001922 | Vacuolated lymphocytes | Very frequent (80-99%) |
| HP:0003756 | Skeletal myopathy | Very frequent (80-99%) |
| HP:0009058 | Increased muscle lipid content | Very frequent (80-99%) |
| HP:0012379 | Abnormal enzyme/coenzyme activity | Very frequent (80-99%) |
| HP:0031331 | Abnormal cardiomyocyte morphology | Very frequent (80-99%) |
| HP:0000819 | Diabetes mellitus | Frequent (30-79%) |
| HP:0001430 | Abnormality of the calf musculature | Frequent (30-79%) |
| HP:0001435 | Abnormality of the shoulder girdle musculature | Frequent (30-79%) |
| HP:0001638 | Cardiomyopathy | Frequent (30-79%) |
| HP:0001677 | Coronaryartery atherosclerosis | Frequent (30-79%) |
| HP:0001681 | Angina pectoris | Frequent (30-79%) |
| HP:0001962 | Palpitations | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0002240 | Hepatomegaly | Frequent (30-79%) |
| HP:0003077 | Hyperlipidemia | Frequent (30-79%) |
| HP:0003236 | Elevated circulating creatine kinase concentration | Frequent (30-79%) |
| HP:0005145 | Coronary artery stenosis | Frequent (30-79%) |
| HP:0009805 | Low-output congestive heart failure | Frequent (30-79%) |
| HP:0011675 | Arrhythmia | Frequent (30-79%) |
| HP:0032141 | Precordial pain | Frequent (30-79%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (5-29%) |
| HP:0001249 | Intellectual disability | Occasional (5-29%) |
| HP:0001733 | Pancreatitis | Occasional (5-29%) |
| HP:0003805 | Rimmed vacuoles | Occasional (5-29%) |
| HP:0011123 | Inflammatory abnormality of the skin | Occasional (5-29%) |
| HP:0031684 | Renal artery atherosclerosis | Occasional (5-29%) |
| HP:0008064 | Ichthyosis | Excluded (0%) |
| HP:0000478 | Abnormality of the eye | Very rare (<1-4%) |
| HP:0001744 | Splenomegaly | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | primary triglyceride deposit cardiomyovasculopathy |
| Mondo ID | MONDO:0035423 |
| Orphanet | 565612 |
| ICD-10-CM | E75.5 |
| SNOMED CT | 1279844009 |
| GARD | 0022267 |
| Is cancer (heuristic) | no |
Also known as: P-TGCV · primary neutral lipid storage disease with severe cardiovascular involvement
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inherited lipid metabolism disorder › disorder of phospholipids, sphingolipids and fatty acids biosynthesis › neutral lipid storage disease › triglyceride deposit cardiomyovasculopathy › primary triglyceride deposit cardiomyovasculopathy
Related subtypes (1): idiopathic triglyceride deposit cardiomyovasculopathy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02830763 | Not specified | TERMINATED | Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.