Familial Apolipoprotein C-ii Deficiency

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Apolipoprotein C-ii Deficiency

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly
  • Cerebral atrophy
  • Encephalopathy
  • Abdominal pain
  • Hepatosplenomegaly
  • Abnormality of the nervous system

And another 11 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Familial Apolipoprotein C-ii Deficiency Is also known as apoc2 deficiency, hyperlipoproteinemia, type ib, familial apoc-ii deficiency, c-ii anapolipoproteinemia.

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.

Familial Apolipoprotein C-ii Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypertriglyceridemias Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

LMF1, APOA5, GPIHBP1, APOC2
Specificity
25 %
Genes
100 %
APOC2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

APOC2
Specificity
100 %
Genes
100 %
APOC2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

APOC2
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
APOC2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APOC2
Specificity
100 %
Genes
100 %
Apolipoprotein C-II deficiency (sequence analysis of APOC2 gene).

By CGC Genetics (Portugal).

APOC2
Specificity
100 %
Genes
100 %
Apolipoprotein C2 deficienc.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

APOC2
Specificity
100 %
Genes
100 %
Chylomicronemia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

APOA5, GPIHBP1, APOC2, APOE
Specificity
25 %
Genes
100 %

You can get up to 24 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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