Disease #04360

Official abbreviation FHBL-1
Name hypobetalipoproteinemia, familial, type 1 (FHBL-1)
OMIM ID 615558
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 131
Phenotype entries for this disease 96
Associated with 1 gene APOB
Associated tissues -
Disease features -
Remarks -


Individuals

131 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

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Disease     

Phenotype details     

Genes screened

Variants in genes

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Owner     
00054754 - - - F no - (not applicable) - - 0 - - FHBL-1 - APOB APOB 1 1 Antoine Rimbert
00054755 - - - M no - - - 0 - - FHBL-1 - APOB APOB 1 1 Antoine Rimbert
00054756 - - - F no - - - 0 - - FHBL-1 - APOB APOB 1 1 Antoine Rimbert
00054757 - - - M - - - - 0 - - FHBL-1 - APOB APOB 1 1 Antoine Rimbert
00054759 - - - M - - - - 0 - - FHBL-1 - PCSK9 PCSK9 1 1 Antoine Rimbert
00206891 24842304-FamPatB1 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - FHBL-1 - APOB APOB 1 1 Johan den Dunnen
00206892 24842304-FamPatB2/B3 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 family, 2 affected brothers M - France - - 0 - - FHBL-1 - APOB APOB 1 2 Johan den Dunnen
00206893 24842304-FamPatB4 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - FHBL-1 - APOB APOB 1 1 Johan den Dunnen
00206894 24842304-FamPatB5/B6 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sibs M - France - - 0 - - FHBL-1 - APOB APOB 2 2 Johan den Dunnen
00206895 24842304-FamPatB7 PubMed: Di Filippo 2014, Journal: Di Filippo 2014 patients from unrelated families - - France - - 0 - - FHBL-1 - APOB APOB 2 1 Johan den Dunnen
00249447 - PubMed: Conca 2012 - - - Italy - - 0 - - FHBL-1 - APOB APOB 1 4 -
00249451 - PubMed: Yue 2002 - - - United States - - 0 - - FHBL-1 - APOB APOB 1 8 Amanda Hooper
00249452 - PubMed: Young 1990 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249453 - PubMed: Young 1989 - F - United States - - 0 - - FHBL-1 - APOB APOB 1 6 Amanda Hooper
00249454 - PubMed: Collins 2008 - F - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249457 - PubMed: Groenewegen 1994 - M - (Netherlands) - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249458 - PubMed: Groenewegen 1993 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 11 Amanda Hooper
00249459 - PubMed: Young 1993 - F - United States - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249460 - PubMed: Young 1993 - F ? United States - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249461 - PubMed: Young 1993 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249462 - PubMed: Young 1993 - - - United States - - 0 - - FHBL-1 - APOB APOB 1 4 Amanda Hooper
00249463 - PubMed: Srivastava 1996 - F - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249464 - PubMed: Ruotolo 1998 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249465 - PubMed: Tarugi 2001 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249466 - PubMed: Tarugi 2001 - - - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249467 - PubMed: Tarugi 2001 - F - - - - 0 - - FHBL-1 - APOB APOB 1 5 Amanda Hooper
00249468 - PubMed: Yue 2002 - - - United States - - 0 - - FHBL-1 - APOB APOB 1 6 Amanda Hooper
00249469 - PubMed: Yue 2002 - - ? - - - 0 - - FHBL-1 - APOB APOB 1 4 Amanda Hooper
00249470 - PubMed: Yue 2002 - - - United States - - 0 - - FHBL-1 - APOB APOB 1 8 Amanda Hooper
00249471 - PubMed: Yue 2002 - - - United States - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249472 - - - M no - - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249473 - - - M no - - - 0 - - FHBL-1 - APOB APOB 1 4 Amanda Hooper
00249474 - - - M no - - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249475 - PubMed: Krul 1992 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 4 Amanda Hooper
00249476 - PubMed: Farese 1992 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 10 Amanda Hooper
00249477 - PubMed: Burnett 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 10 Amanda Hooper
00249478 - PubMed: McCormick 1992 - - - New Zealand - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249479 - PubMed: Fouchier 2005 - M - Netherlands - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249480 - PubMed: Fouchier 2005 2 families (5 patients) - - Netherlands - - 0 - - FHBL-1 - APOB APOB 1 5 Amanda Hooper
00249481 - PubMed: Fouchier 2005 - - - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249482 - PubMed: Fouchier 2005 - - - - - - 0 - - FHBL-1 - APOB APOB 1 7 Amanda Hooper
00249483 - PubMed: Fouchier 2005 - - - - - - 0 - - FHBL-1 - APOB APOB 1 5 Amanda Hooper
00249484 - PubMed: Fouchier 2005 - - - - - - 0 - - FHBL-1 - APOB APOB 1 23 Amanda Hooper
00249485 - PubMed: Lancellotti 2005 - F - (Italy) - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249486 - PubMed: Edgar 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249487 - PubMed: Di Leo 2009 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 4 Amanda Hooper
00249488 - PubMed: Di Leo 2007 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249489 - PubMed: Di Leo 2007 - F - Italy - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249490 - PubMed: Homer 2007 - M - New Zealand - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249491 - PubMed: Tarugi 2000 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 8 Amanda Hooper
00249492 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249493 - PubMed: Di Leo 2007 - F - Italy - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249494 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249495 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249496 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249497 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249498 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249499 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249500 - PubMed: Tarugi 2007 6 families (6 patients) - - Italy - - 0 - - FHBL-1 - APOB APOB 1 6 Amanda Hooper
00249501 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249502 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249503 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249504 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249505 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249506 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249507 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249508 - PubMed: Tarugi 2007 - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249509 - PubMed: Hooper 2008 - M yes Turkey - - 0 - - FHBL-1 - APOB APOB 1 5 Amanda Hooper
00249518 - PubMed: Katsuda 2009 - - - - - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249519 - PubMed: Bonnefont-Rousselot 2009 - M - France - - 0 - - FHBL-1 cirrhosis APOB APOB 1 3 Amanda Hooper
00249520 - PubMed: Di Leo 2009 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 6 Amanda Hooper
00249521 - PubMed: Wagner 1991 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 10 Amanda Hooper
00249522 - PubMed: Zhong 2010 - - - - - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249523 - PubMed: Zhong 2010 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249524 - PubMed: Zhong 2010 - - - - - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249525 - PubMed: Zhong 2010 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249526 - PubMed: Welty 1991 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 7 Amanda Hooper
00249527 - PubMed: Florkowski 2010 - M - New Zealand - - 0 - - FHBL-1 fatty liver APOB APOB 1 1 Amanda Hooper
00249528 - - - M no - - - 0 - - FHBL-1 - APOB APOB 1 4 Amanda Hooper
00249530 - PubMed: Fouchier 2005 - - - - - - 0 - - FHBL-1 - APOB APOB 1 9 -
00249532 - PubMed: Di Leo 2007 - M - Italy - - 0 - - FHBL-1 - APOB APOB 1 2 Amanda Hooper
00249533 - PubMed: Turk 2012 - M - Turkey - - 0 - - FHBL-1 hepatic steatosis APOB APOB 1 1 -
00249534 - PubMed: Talmud 1992 - - - (United Kingdom (Great Britain)) - - 0 - - FHBL-1 atypical retinitis pigmentosa APOB APOB 1 4 -
00249535 - PubMed: Welty 1995 - M - - - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249536 - PubMed: Pulai 1998 - M - United States - - 0 - - FHBL-1 - APOB APOB 1 3 Amanda Hooper
00249537 - PubMed: Tarugi 1996 - M - Italy - - 0 - - FHBL-1 fatty liver APOB APOB 1 2 -
00249538 - PubMed: Pulai 1998 - F no United States - - 0 - - FHBL-1 - APOB APOB 1 11 -
00249539 - PubMed: Martín-Morales 2013 - M - - - - 0 - - FHBL-1 - APOB APOB 1 3 -
00249540 - PubMed: Martín-Morales 2013 - F - - - - 0 - - FHBL-1 Down syndrome, NAFLD APOB APOB 1 2 -
00249541 - PubMed: Martín-Morales 2013 - M - - - - 0 - - FHBL-1 steatorrhoea, fatty liver APOB APOB 1 3 -
00249542 - PubMed: Magnolo 2016 - - - (Italy) - - 0 - - FHBL-1 - APOB APOB 1 1 -
00249544 - PubMed: Whitfield 2003 homozygous FHBL F - South Africa - - 0 - - FHBL-1 - APOB APOB 1 5 Amanda Hooper
00249545 - - - F - - - - 0 - - FHBL-1 - APOB APOB 1 1 Sigrid Fouchier
00249546 - PubMed: Welty 1995 - - - - - - 0 - - FHBL-1 compound heterozygote APOB APOB 2 4 Amanda Hooper
00249548 - PubMed: Huang 1991 - M no United States - 18y 0 - - FHBL-1 compound heterozygote APOB APOB 2 2 Amanda Hooper
00249549 - - - F - South Africa Xhosa - 0 - - FHBL-1 - APOB APOB 2 1 Amanda Hooper
00249550 - PubMed: Hegele 2002 homozygous FHBL F yes Canada - - 0 - - FHBL-1 - APOB APOB 1 1 Amanda Hooper
00249551 - - - - - - - - 0 - - FHBL-1 - APOB APOB 1 1 Sigrid Fouchier
00249552 - PubMed: Gangloff 2011 - - yes - French Canadian - 0 - - FHBL-1 Homozygous FHBL APOB APOB 1 1 Amanda Hooper
00249554 - PubMed: Lancellotti 2004 - M no - - - 0 - - FHBL-1 - APOB APOB 2 1 Amanda Hooper
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