Disease #02072 (HTX5 (heterotaxy, visceral, autosomal, type 5 (HTX-5, situs inversus/situs ambiguus)), OMIM:270100)

Official abbreviation HTX5
Name heterotaxy, visceral, autosomal, type 5 (HTX-5, situs inversus/situs ambiguus)
OMIM ID 270100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene NODAL
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

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00020017 - - - F yes Palestine Arab >06y - - - HTX5 US showed abdominal situs inversus. Echocardiogram demonstrated levocardia with interrupted inferior vena cava, all of which were consistent with HS. Brain CT scan was normal, excluding hydrocephalus and her growth and development, followed till seven years of age. WDR16 WDR16 1 1 Asaf Ta-Shma
00024130 - - - M yes Palestine Arab >04y - - - HTX5 Situs inversus totalis. Nasal NO was normal (580 ppb) indicating normal ciliary function; electron microscopy examination of the nasal epithelium obtained by brush biopsy revealed normal ciliary structure, excluding primary ciliary dyskinesia - WDR16 1 1 Asaf Ta-Shma
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