Cholesterol-ester Transfer Protein Deficiency
Genes related to Cholesterol-ester Transfer Protein Deficiency
- CETP
- APOC3
Clinical Features
Phenotypes and symptoms related to Cholesterol-ester Transfer Protein Deficiency
- Hyperlipidemia
- Hypercholesterolemia
- Precocious atherosclerosis
- Hyperlipoproteinemia
- Tendon xanthomatosis
- Increased HDL cholesterol concentration
- Hypotriglyceridemia
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Cholesterol-ester Transfer Protein Deficiency Is also known as cept deficiency, familial hyperalphalipoproteinemia.
Researches and researchers
Doctors, researchs, and experts related to Cholesterol-ester Transfer Protein Deficiency extracted from public data.
Cholesterol-ester Transfer Protein Deficiency Experts map
Current Researchs and researchers
-
PARIS — Pr Jean-Philippe GIRARDET
Investigator of research project - Contact person of registry
-
Institution/s:
— CHU Paris Est - Hôpital d'Enfants Armand-Trousseau -
Research area/topic::
'Dyslipidemia genetics: phenotype-genotype relationships; vascular consequences in children of hereditary dyslipidemia'
-
Institution/s:
Cholesterol-ester Transfer Protein Deficiency Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
High HDL.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCARB1, CETP
Specificity
50 %
Genes
50 % |
CETP.
By Institute for Human Genetics University Clinic Freiburg (Germany).
CETP
Specificity
100 %
Genes
50 % |
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).
SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...)
View the complete list with 5 more genes
Specificity
8 %
Genes
100 % |
Comprehensive Cardiology Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...)
View the complete list with 143 more genes
Specificity
1 %
Genes
50 % |
Inherited Cardiovascular Diseases and Sudden Death Panel.
By Health in Code (Spain).
MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ , (...)
View the complete list with 191 more genes
Specificity
1 %
Genes
100 % |
Cardiovascular Diseases_General Panel.
By Health in Code (Spain).
RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)
View the complete list with 351 more genes
Specificity
1 %
Genes
100 % |
Dyslipidemias / Early atherosclerosis.
By Health in Code (Spain).
RYR1, SAR1B, BLK, SLCO1B1, SLC22A8, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, ZMPSTE24, NEUROG3, ABCG5, ABCG8, LMF1, PCDH15, CAV1, BSCL2, SCARB1, TRIB1 , (...)
View the complete list with 57 more genes
Specificity
3 %
Genes
100 % |
CETP.
By Fulgent Genetics Fulgent Genetics (United States).
CETP
Specificity
100 %
Genes
50 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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