Disease #01575 (HHT (telangiectasia hemorrhagic, hereditary (HHT)))

Official abbreviation HHT
Name telangiectasia hemorrhagic, hereditary (HHT)
OMIM ID -
Inheritance -
Individuals reported having this disease 69
Phenotype entries for this disease 68
Associated with 3 genes ACVRL1, ENG, GDF2
Associated tissues -
Disease features -
Remarks -


Individuals

69 entries on 1 page. Showing entries 1 - 69.
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00035680 - - - - - Germany - - 0 - - HHT suspected Morbus Osler ENG ENG 1 1 Andreas Laner
00035681 - - - - - Germany - - 0 - - HHT suspected Morbus Osler with epistaxis (also familiar), intracranial haemorrhage with 4 arteriovenous malformations ENG ENG 1 1 Andreas Laner
00035682 - - - - - Germany - - 0 - - HHT - ENG ENG 1 1 Andreas Laner
00035683 - - - - - Germany - - 0 - - HHT suspected Morbus Osler ENG ENG 1 1 Andreas Laner
00035684 - - - - - Germany - - 0 - - HHT suspected Morbus Osler with epistaxis (also familiar), intracranial haemorrhage with 4 arteriovenous malformations ENG ENG 1 1 Andreas Laner
00035685 - - - - - Germany - - 0 - - HHT suspected Morbus Osler ENG ENG 1 1 Andreas Laner
00035687 - - - - - Germany - - 0 - - HHT clinical Morbus Osler ENG ENG 3 1 Andreas Laner
00035689 - - - - - Germany - - 0 - - HHT suspected Morbus Osler ENG ENG 1 1 Andreas Laner
00038516 - ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016 - F no France caucasian - 0 - - ?, EIEE, HHT, NPS bilateral bowed radial diaphyses with absent radial cupules, bilateral coxa valga, fingernail dysplasia, thoraco-lumbar scoliosis with double convexity, leg asymmetry, right foot valgus,instability of the patella, normal renal function, facial dysmorphism including a round face, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, telecanthus, strabismus, dysplastic and low-set ears, bulbous nose, small mouth, thin upper lip, prominent cheeks, and a square chin Growth delay (at age 2 years: weight 3rd centile, length -4 SD and OFC -0.5 SD), hereditary hemorrhagic telangiectasia with recurrent but sporadic epistaxis, tonic-clonic seizures, anterior slow spikes and waves on the EEG, vermis atrophia, central myelination delay, severe psychomotor delay and intellectual disability, cerebellar syndrome, behavioral troubles ENG, LMX1B, LRSAM1, STXBP1 - 1 1 Sophie Nambot
00038520 - ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016 - F no France caucasian - 0 - - ?, EIEE, HHT, NPS facial dysmorphism included brachycephaly, round face, prominent metopic ridge, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, enophtalmia, bulbous nose, small mouth, thin lips, prominent cheeks and square chin Growth delay (at 9.5 years: weight 25th centile, length -2.5 SD, OFC -4 SD), hereditary hemorrhagic telangiectasia with frequent epistaxis at 12y, scoliosis, equinovarus feet, hypoplastic patella, limited elbow extension, hypoplastic nails predominantly affecting the thumbs, no renal disorder, West syndrome with infantile spams and hypsarrhythmia, poly spikes and disorganized pattern on the EEG, cortico-cortical atrophy on the MRI DNM1, ENG, LMX1B, LRSAM1, SPTAN1, STXBP1 - 1 1 Sophie Nambot
00100507 - - - - - Germany - - 0 - - HHT - ENG ENG 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00207450 30244195-Fam1PatIII2 PubMed: Wooderchak-Donahue 2018 4-generation family, 11 affected (8F, 3M) F;M no United States - - 0 - - HHT epistaxis, pulmonary arteriovenous malformation, hepatic arteriovenous malformation ACVRL1 ACVRL1 1 11 Johan den Dunnen
00207502 30244195-Fam2PatIII1 PubMed: Wooderchak-Donahue 2018 3-generation family, 3 affected (2F, M) F - United States - - 0 - - HHT epistaxis, telangiectasia, pulmonary arteriovenous malformation ACVRL1 ACVRL1 2 3 Johan den Dunnen
00207503 30244195-Pat3 PubMed: Wooderchak-Donahue 2018 - M - United States - - 0 - - HHT epistaxis, telangiectasia, pulmonary arteriovenous malformation ACVRL1 ACVRL1 1 1 Johan den Dunnen
00207504 30244195-Pat4 PubMed: Wooderchak-Donahue 2018 family history M - United States - - 0 - - HHT epistaxis, telangiectasia, colon arteriovenous malformation ACVRL1 ACVRL1 1 1 Johan den Dunnen
00207505 30244195-Pat5 PubMed: Wooderchak-Donahue 2018 family history F - United States - - 0 - - HHT epistaxis, telangiectasia, pulmonary arteriovenous malformation, hepatic arteriovenous malformation ACVRL1 ACVRL1 1 1 Johan den Dunnen
00207506 30244195-Pat6 PubMed: Wooderchak-Donahue 2018 family history F - United States - - 0 - - HHT telangiectasia, pulmonary arteriovenous malformation, hepatic arteriovenous malformation ACVRL1 ACVRL1 1 1 Johan den Dunnen
00207507 30244195-Pat7 PubMed: Wooderchak-Donahue 2018 family history M - United States - - 0 - - HHT epistaxis, diffuse arteriovenous malformation ACVRL1 ACVRL1 1 1 Johan den Dunnen
00207508 30244195-Pat8 PubMed: Wooderchak-Donahue 2018 family history F - United States - - 0 - - HHT epistaxis, telangiectasia, pulmonary arteriovenous malformation ACVRL1 ACVRL1 1 1 Johan den Dunnen
00218666 G1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218667 G2 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218670 6 Journal: Jelsig 2015 - M - Denmark (European) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218671 7 Journal: Jelsig 2015 - M - Denmark (European) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218672 8 Journal: Jelsig 2015 - M - Denmark (European) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218682 E1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218683 E2 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218702 2 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218703 14 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218704 brother Journal: Schwenter 2011 - M - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218705 father Journal: Schwenter 2011 - M - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218706 patient Journal: Schwenter 2011 - F - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218722 patient PubMed: Menko 2014 - M - (Netherlands) (European) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218730 5 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218731 patient Journal: Korezenik 2005 - M - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218734 patient Journal: Balci 2013 - F - (Turkey) - - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218775 7 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218776 13 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218778 11 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218782 113-1 Journal: Torring 2013 - M - Denmark (European) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218810 4 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218811 9 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218813 3 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218814 12 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218821 1 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218822 58-1 Journal: Torring 2013 - F - Denmark (European) - 0 - - HHT HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218823 58-2 Journal: Torring 2013 - M - Denmark (European) - 0 - - HHT HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218824 58-3 Journal: Torring 2013 - M - Denmark (European) - 0 - - HHT HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218843 H1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218844 H2 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218845 H3 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218846 H4 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218847 H5 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218849 H7 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218850 8 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218851 10 Journal: Schwenter 2012 - - - (Canada) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218904 B1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218905 B2 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218906 B3 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218907 C1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218908 D1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218909 D2 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218910 D3 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218911 patient Journal: Sumitomo 2013 - M - (Japan) (Asian) - 0 - - HHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00269823 Pat6001-1 PubMed: Snellings 2019 - M - Canada - 57y 0 - - HHT 57y-deceased; recurrent epistaxis, telangiectasia; family history ENG ENG 1 1 Johan den Dunnen
00269824 Pat6002-1 PubMed: Snellings 2019 - F - Canada - - 0 - - HHT recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history ACVRL1 ACVRL1 1 1 Johan den Dunnen
00269825 Pat6003-1 PubMed: Snellings 2019 - M - Canada - - 0 - - HHT recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history ACVRL1 ACVRL1 1 1 Johan den Dunnen
00269826 Pat6004-1 PubMed: Snellings 2019 - M - Canada - - 0 - - HHT recurrent epistaxis, telangiectasia; family history ACVRL1 ACVRL1 1 1 Johan den Dunnen
00269827 Pat6005-1 PubMed: Snellings 2019 - M - Canada - - 0 - - HHT recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history ACVRL1 ACVRL1 1 1 Johan den Dunnen
00320000 - - - - yes - (not applicable) - - - - - HHT - GDF2 GDF2 1 1 David Moore
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