Hyperlipidemia, Combined, 1
Clinical Features
Phenotypes and symptoms related to Hyperlipidemia, Combined, 1
- Hyperlipidemia
- Abnormality of lipid metabolism
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
Hyperlipidemia, Combined, 1 Is also known as hyplip1, hyperlipidemia, familial combined, 1, fchl1.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hyperlipidemia, Combined, 1 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
Platelet Disorders.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
USF1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
USF1
Specificity
100 %
Genes
100 % |
USF1.
By Fulgent Genetics Fulgent Genetics (United States).
USF1
Specificity
100 %
Genes
100 % |
Familial Combined Hyperlipidemia, Sequencing USF1 Gene.
By Reference Laboratory Genetics (Spain).
USF1
Specificity
100 %
Genes
100 % |
You can get up to -4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FAMILIAL MEDITERRANEAN FEVER; FMF CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8 SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62
Platelet Disorders.
USF1. Complete sequencing.