Disease #01617

Official abbreviation ABL
Name abetalipoproteinaemia (ABL)
OMIM ID 200100
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 49
Phenotype entries for this disease 49
Associated with 1 gene MTTP
Associated tissues -
Disease features -
Remarks -


Individuals

49 entries on 1 page. Showing entries 1 - 49.
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Genes screened

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00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, MTTP, NHLRC1, NPHS1, SERPINA1, SLC26A2 ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, HTT, LAMA2, LAMA3, MTTP, NHLRC1, NPHS1, SERPINA1, SLC26A2, TMPPE 14 1 LOVD-team, but with Curator vacancy
00205860 - - - F no France - 01y 0 - - ABL diarrhea, failure to thrive MTTP MTTP 2 1 Mathilde Di Filippo
00206839 21394827-FamPatAM PubMed: Pons 2011 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no France white - 0 - - ABL see paper; ... MTTP MTTP 2 2 Johan den Dunnen
00206840 21394827-FamPatPM PubMed: Pons 2011 sister F no France white - 0 - - ABL see paper; ... MTTP MTTP 2 1 Johan den Dunnen
00206841 10946006-FamPat PubMed: Ohashi 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206842 10679949-FamPat PubMed: Wang 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206843 7782284-FamPat PubMed: Ricci 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206845 16143868-FamPat PubMed: Sakamoto 2006 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206846 17275380-FamPat PubMed: Benayoun 2007 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206847 10679949-FamPat PubMed: Wang 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206848 21502686-FamPat PubMed: Sani 2011 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206849 8939939-FamPat PubMed: Rehberg 1996 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206850 10679949-FamPat PubMed: Wang 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206852 10679949-FamPat PubMed: Wang 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206854 8361539-FamPat PubMed: Sharp 1993 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206855 20592474-FamPat PubMed: Zeissig 2010 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206856 19066957-FamPat PubMed: Chardon 2009 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206857 19056372-FamPat PubMed: Najah 2009 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206860 16143868-FamPat PubMed: Sakamoto 2006 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206861 17132287-FamPat PubMed: Al-Mahdili 2006 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206862 17275380-FamPat PubMed: Benayoun 2007 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206863 10679949-FamPat PubMed: Wang 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206864 8533758-FamPat PubMed: Narcisi 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206865 8111381-FamPat PubMed: Shoulders 1993 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206866 8533758-FamPat PubMed: Narcisi 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206867 10946006-FamPat PubMed: Ohashi 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206868 20592474-FamPat PubMed: Zeissig 2010 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206869 21394827-FamPat PubMed: Pons 2011 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206870 19056372-FamPat PubMed: Najah 2009 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206871 21394827-FamPat PubMed: Pons 2011 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206872 10446076-FamPat PubMed: Yang 1999 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206873 15910857-FamPat PubMed: Di Leo 2005 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206874 8533758-FamPat PubMed: Narcisi 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206875 10679949-FamPat PubMed: Wang 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206876 10946006-FamPat PubMed: Ohashi 2000 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206877 17570373-FamPat PubMed: Tarugi 2007 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206878 8533758-FamPat PubMed: Narcisi 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206879 19066957-FamPat PubMed: Chardon 2009 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206880 8361539-FamPat PubMed: Sharp 1993 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206881 8533758-FamPat PubMed: Narcisi 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206882 8533758-FamPat PubMed: Narcisi 1995 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206883 9467817-FamPat PubMed: Heath 1997 - - - - - - 0 - - ABL see paper; … MTTP MTTP 1 1 Johan den Dunnen
00206884 24842304-FamPatA1 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - ABL - MTTP MTTP 1 1 Johan den Dunnen
00206885 24842304-FamPatA2 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - ABL - MTTP MTTP 1 1 Johan den Dunnen
00206886 24842304-FamPatA4 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - ABL - MTTP MTTP 1 1 Johan den Dunnen
00206887 24842304-FamPatA5 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - ABL - MTTP MTTP 1 1 Johan den Dunnen
00206888 24842304-FamPatA6 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - yes France - - 0 - - ABL - MTTP MTTP 2 1 Johan den Dunnen
00206889 24842304-FamPatA7 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - ABL - MTTP MTTP 2 1 Johan den Dunnen
00206890 24842304-FamPatA3 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - ABL - MTTP MTTP 1 1 Johan den Dunnen
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