Difference between revisions of "Hereditary hemorrhagic telangiectasia"

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'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome,<ref>{{OMIM|187300}}</ref> due to a mutation in ''ENG'' (CD105).<ref name=omim131195>{{OMIM|131195}}</ref>
'''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)

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 187300
  2. Online 'Mendelian Inheritance in Man' (OMIM) 131195
  3. Online 'Mendelian Inheritance in Man' (OMIM) 175050
  4. 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.