Disease #01516 (JPHT (polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT)), OMIM:175050)

Official abbreviation JPHT
Name polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT)
OMIM ID 175050
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 32
Phenotype entries for this disease 36
Associated with 1 gene SMAD4
Associated tissues -
Disease features -
Remarks -


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00049945 15031030-Fam230 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049946 15031030-Fam211 PubMed: Gallione 2004 3-generation family, 4 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 4 Global Variome, with Curator vacancy
00049947 15031030-Ind2616 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049948 15031030-Fam236 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049949 15031030-Fam25 PubMed: Gallione 2004 2-generation family, 2 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 2 Global Variome, with Curator vacancy
00049971 16613914-UP015 PubMed: Gallione 2006 - - - United States - - 0 - - JPHT see paper; telangiectases, epistaxis, AVMs lung and gastrointestinal tract, colonic polyps discoverd during endoscopy, ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049984 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049985 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049986 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049987 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049988 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049989 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049990 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049991 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049992 20685751-Pat PubMed: Iyer 2010 - M - United States - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049997 15031030-Fam153 PubMed: Gallione 2004 3-generation family, 3 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 3 SIB - Livia Famiglietti
00049999 15031030-Fam234 PubMed: Gallione 2004 2-generation family, 2 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 2 SIB - Livia Famiglietti
00218773 YF1 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218807 3760 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218808 4138 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218812 4116 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218816 4289 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218825 4323 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218860 4291 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00264253 patient Journal: Karnsakul 2017 - F - (United States) (american) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264254 patient Journal: Brusgaard 2017 - - - (Denmark) (european) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264255 daughter Journal: Brusgaard 2017 - F - (Denmark) (european) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264265 Patient 1 PubMed: Szigeti 2012 - F - (United States) (american) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264266 Patient 2 PubMed: Szigeti 2012 - M - (United States) (american) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264267 Patient 1 Journal: Teekakirikul 2012 - M - (United States) (white) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264268 Patient 2 Journal: Teekakirikul 2012 - F - (United States) white - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00409839 II-2 PubMed: Gallione 2004 PubMed: Gallione 2004 ? no ? (unknown) Afro-Asian ? 0 - - JPHT, JPS - ACVR1, ENG, SMAD4 - 0 1 Litika Vermani
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