Abetalipoproteinemia

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Prevalence (%) of clinical parameters based on data from 2 references describing 10 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Acanthocytosis circulatory 100 % 10679949 2012-05-30
Hypocholesterolemia circulatory 100 % 10679949 2012-05-30
Steatorrhoea digestive 100 % 10679949 2012-05-30
Acanthocytosis circulatory 100 % 10946006 2012-05-30
Hypocholesterolemia circulatory 100 % 10946006 2012-05-30
Retinitis pigmentosa nervous 75 % 10946006 2012-05-30
Steatorrhoea digestive 75 % 10946006 2012-05-30
Areflexia nervous 75 % 10946006 2012-05-30
Retinitis pigmentosa nervous 67 % 10679949 2012-05-30
Ataxia nervous 50 % 10679949 2012-05-30
Areflexia nervous 50 % 10679949 2012-05-30
Failure to thrive multi 25 % 10946006 2012-05-30
Ataxia nervous 25 % 10946006 2012-05-30



List of references:


Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
J Wang, R A Hegele,



Human mutation - Mar 2000



Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
K Ohashi, S Ishibashi, J Osuga, R Tozawa, K Harada, N Yahagi, F Shionoiri, Y Iizuka, Y Tamura, R Nagai, D R Illingworth, T Gotoda, N Yamada,



Journal of lipid research - Aug 2000