Difference between revisions of "Hereditary hemorrhagic telangiectasia"
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'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome | '''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome.<ref>{{OMIM|187300}}</ref> It is commonly due to a mutation in ''ENG'' (CD105).<ref name=omim131195>{{OMIM|131195}}</ref> | ||
It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref> | It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref> | ||
==General== | ==General (HHT1)== | ||
*Due to ENG1 mutation. | |||
*Autosomal dominant inheritance.<ref name=pmid12668602>{{Cite journal | last1 = Marchuk | first1 = DA. | last2 = Srinivasan | first2 = S. | last3 = Squire | first3 = TL. | last4 = Zawistowski | first4 = JS. | title = Vascular morphogenesis: tales of two syndromes. | journal = Hum Mol Genet | volume = 12 Spec No 1 | issue = | pages = R97-112 | month = Apr | year = 2003 | doi = | PMID = 12668602 }}</ref> | *Autosomal dominant inheritance.<ref name=pmid12668602>{{Cite journal | last1 = Marchuk | first1 = DA. | last2 = Srinivasan | first2 = S. | last3 = Squire | first3 = TL. | last4 = Zawistowski | first4 = JS. | title = Vascular morphogenesis: tales of two syndromes. | journal = Hum Mol Genet | volume = 12 Spec No 1 | issue = | pages = R97-112 | month = Apr | year = 2003 | doi = | PMID = 12668602 }}</ref> | ||
*[[Arteriovenous malformation]] = hallmark lesion.<ref name=pmid12668602/> | *[[Arteriovenous malformation]] = hallmark lesion.<ref name=pmid12668602/> | ||
Revision as of 14:15, 3 December 2011
Hereditary hemorrhagic telangiectasia, abbreviated HHT, is an inherited syndrome.[1] It is commonly due to a mutation in ENG (CD105).[2]
It may occur with Juvenile polyposis syndrome and be associated with a SMAD4 mutation.[3]
General (HHT1)
- Due to ENG1 mutation.
- Autosomal dominant inheritance.[4]
- Arteriovenous malformation = hallmark lesion.[4]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 187300
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 131195
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 175050
- ↑ 4.0 4.1 Marchuk, DA.; Srinivasan, S.; Squire, TL.; Zawistowski, JS. (Apr 2003). "Vascular morphogenesis: tales of two syndromes.". Hum Mol Genet 12 Spec No 1: R97-112. PMID 12668602.