Disease #02238 (HTX1 (heterotaxy, visceral, X-linked, type 1, (HTX-1, situs inversus/situs ambiguus)), OMIM:306955)

Official abbreviation HTX1
Name heterotaxy, visceral, X-linked, type 1, (HTX-1, situs inversus/situs ambiguus)
OMIM ID 306955
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 36
Phenotype entries for this disease 36
Associated with 1 gene ZIC3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

36 entries on 1 page. Showing entries 1 - 36.
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00029040 MC177 PubMed: El Malti 2016, Journal: El Malti 2016 - M no Benin African 00y00m - yes - HTX1 heterotaxy with complex cardiac malformations GATA4, NKX2-5, ZIC3 ZIC3 1 1 Patrice Bouvagnet
00059056 - - - M ? - - - - - - HTX1 Heterotaxy, gut malrotation, asplenia, ASD, CAVC, PA ZIC3 ZIC3 1 1 Aimee Paulussen
00059057 - - - M - - - - - - - HTX1 ASD, VSD, DORV, PS, TGA, cholestatic liver disease, imperforate anus, bilat club feet, fused lumbar vertebrae. ZIC3 ZIC3 1 1 Aimee Paulussen
00059058 - - - M ? - - - - - - HTX1 AVSD, DORV, PAPVR, malrotation, transverse liver, asplenia. ZIC3 ZIC3 1 1 Aimee Paulussen
00059059 - - - M ? - - - - - - HTX1 d-TGA, PDA ZIC3 ZIC3 1 1 Aimee Paulussen
00059060 - - - M ? - - - - - - HTX1 Heterotaxy, Midline liver, dextrocardia, CAVC, PA, DORV, TAPVR. ZIC3 ZIC3 1 1 Aimee Paulussen
00059061 - - - M ? - - - - - - HTX1 Heterotaxy, dextrocardia, VSD, ventriculomegaly, no stomach. ZIC3 ZIC3 1 1 Aimee Paulussen
00059062 - - - M no Sweden - - - - - HTX1 Two male fetuses with heterotaxy, one living male with heterotaxy and caudal regression syndrome ZIC3 ZIC3 1 1 Aimee Paulussen
00059063 - - - M no Spain - - - - - HTX1 Three male fetuses with heterotaxy syndrome. ZIC3 ZIC3 1 1 Aimee Paulussen
00059064 - - - M no Hungary - - - - - HTX1 Two male fetuses with heterotaxy syndrome. ZIC3 ZIC3 1 1 Aimee Paulussen
00059065 - - - M no Netherlands white - - - - HTX1 Male fetus with complex CHD (DORV, TGA, AVSD) and isomerism. ZIC3 ZIC3 1 1 Aimee Paulussen
00059066 - - - F no Finland - - - - - HTX1 Asymptomatic, familial history of male heterotaxy (2 brothers died of heterotaxy) ZIC3 ZIC3 1 1 Aimee Paulussen
00059067 - - - M no Denmark - - - - - HTX1 Two male fetuses with heterotaxy syndrome. ZIC3 ZIC3 1 1 Aimee Paulussen
00059071 - - - F - - - - - - - HTX1 Female with AVSD, pulmonary atresia and TAPVR, also abdominal malrotation. ZIC3 ZIC3 1 1 Aimee Paulussen
00059072 - - - F - - - - - - - HTX1 Congenital heart disease. ZIC3 ZIC3 1 1 Aimee Paulussen
00059073 - - - M - - - - - - - HTX1 TGA ZIC3 ZIC3 1 1 Aimee Paulussen
00059074 - - - F - - - - - - - HTX1 PA, VSD, ASD. ZIC3 ZIC3 1 1 Aimee Paulussen
00059075 - - - F - - - - - - - HTX1 Asymptomatic, familial history of male dextrocardia and heterotaxy. ZIC3 ZIC3 1 1 Aimee Paulussen
00059076 - - - M - - - - - - - HTX1 Two male deaths with heterotaxy ZIC3 ZIC3 1 1 Aimee Paulussen
00059077 - - - M - - - - - - - HTX1 Three males with situs ambiguous. ZIC3 ZIC3 1 1 Aimee Paulussen
00059078 - - - F - - - - - - - HTX1 Heterotaxy, VSD, L hip dysplasia. ZIC3 ZIC3 1 1 Aimee Paulussen
00059079 - - - M - - - - - - - HTX1 Two male brothers with situs ambiguous and anal malformations. ZIC3 ZIC3 1 1 Aimee Paulussen
00059080 - - - M - - - - - - - HTX1 Abdominal situs inversus, asplenia, CAVC, PA, d-TGA. ZIC3 ZIC3 1 1 Aimee Paulussen
00059081 - - - ? - - - - - - - HTX1 - ZIC3 ZIC3 1 1 Aimee Paulussen
00059082 - - - M - - - - - - - HTX1 Situs ambiguous, sacral agenesis. ZIC3 ZIC3 1 1 Aimee Paulussen
00059083 - - - M - - - - - - - HTX1 d-TGA, single ventricle, PA, polysplenia. ZIC3 ZIC3 1 1 Aimee Paulussen
00059084 - - - M - - - - - - - HTX1 HLHS, right atrial isomerism, TGA, aplenia, malrotation webbed neck, abnormal liver lobation. ZIC3 ZIC3 1 1 Aimee Paulussen
00059085 - - - F - - - - - - - HTX1 Asplenia, CAVC, PA. ZIC3 ZIC3 1 1 Aimee Paulussen
00059086 - - - M - - - - - - - HTX1 Single ventricle, PS, DORV, asplenia, horseshoe kidney, low-set ears, abnormal situs. ZIC3 ZIC3 1 1 Aimee Paulussen
00059087 - - - M - - - - - - - HTX1 Hypoplastic LV, d-TGA, DORV, VSD, ventricular inversion, heterotaxy, gut malrotation, polysplenia, midline liver. ZIC3 ZIC3 1 1 Aimee Paulussen
00059088 - - - ? - - - - - - - HTX1 Isolated CHD, HLHS, PS, l-TGA, DILV, ASD, DORV, heterotaxy, dextrocardia, d-TGA, TA. ZIC3 ZIC3 1 1 Aimee Paulussen
00059089 - - - M - - - - - - - HTX1 d-TGA ZIC3 ZIC3 1 1 Aimee Paulussen
00059093 - - - F - - - - - - - HTX1 ASD type II, VSD, AVSD, situs inversus totalis, dextrocardia. ZIC3 ZIC3 1 1 Aimee Paulussen
00059094 - - - - - - - - - - - HTX1 - ZIC3 ZIC3 1 1 Aimee Paulussen
00059095 - - - M - - - - - - - HTX1 Dextroposition heart, bilat superior vena cava, oesophageal atresia, anal atresia, multicystic dysplasia. ZIC3 ZIC3 1 1 Aimee Paulussen
00059096 - - - F - - - - - - - HTX1 Heterotaxy ZIC3 ZIC3 1 1 Aimee Paulussen
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