Hereditary hemorrhagic telangiectasia: Difference between revisions
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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== | ||
* | *Clinical diagnosis. | ||
===Diagnostic criteria=== | ===Diagnostic criteria=== | ||
| Line 14: | Line 12: | ||
#Visceral lesions. | #Visceral lesions. | ||
#Family history. | #Family history. | ||
===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> | |||
*[[Arteriovenous malformation]] = hallmark lesion.<ref name=pmid12668602/> | |||
==See also== | ==See also== | ||
Latest revision as of 14:26, 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
- Clinical diagnosis.
Diagnostic criteria
Three of four required - Curaçao criteria:[4]
- Epistaxes.
- Telangiectasia
- Visceral lesions.
- Family history.
HHT1
- Due to ENG1 mutation.
- Autosomal dominant inheritance.[5]
- Arteriovenous malformation = hallmark lesion.[5]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 187300
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 131195
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 175050
- ↑ Shovlin, CL.; Guttmacher, AE.; Buscarini, E.; Faughnan, ME.; Hyland, RH.; Westermann, CJ.; Kjeldsen, AD.; Plauchu, H. (Mar 2000). "Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).". Am J Med Genet 91 (1): 66-7. PMID 10751092.
- ↑ 5.0 5.1 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.