Hereditary hemorrhagic telangiectasia - Revision history

Michael: more

2011-12-03T14:26:22Z

← Older revision		Revision as of 14:26, 3 December 2011
Line 3:		Line 3:
	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 ~~(HHT1)~~==		==General==
	*~~Due to ENG1 mutation~~.		*Clinical diagnosis.
	*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/>

	===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==

Michael: more

2011-12-03T14:24:16Z

← Older revision		Revision as of 14:24, 3 December 2011
Line 7:		Line 7:
	*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/>

			===Diagnostic criteria===
			Three of four required - Curaçao criteria:<ref>{{Cite journal \| last1 = Shovlin \| first1 = CL. \| last2 = Guttmacher \| first2 = AE. \| last3 = Buscarini \| first3 = E. \| last4 = Faughnan \| first4 = ME. \| last5 = Hyland \| first5 = RH. \| last6 = Westermann \| first6 = CJ. \| last7 = Kjeldsen \| first7 = AD. \| last8 = Plauchu \| first8 = H. \| title = Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). \| journal = Am J Med Genet \| volume = 91 \| issue = 1 \| pages = 66-7 \| month = Mar \| year = 2000 \| doi = \| PMID = 10751092 }}</ref>
			#Epistaxes.
			#Telangiectasia
			#Visceral lesions.
			#Family history.

	==See also==		==See also==

Michael at 14:15, 3 December 2011

2011-12-03T14:15:30Z

← Older revision		Revision as of 14:15, 3 December 2011
Line 1:		Line 1:
	'''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/>

Michael: expand a bit

2011-12-03T14:09:58Z

expand a bit

← Older revision		Revision as of 14:09, 3 December 2011
Line 1:		Line 1:
	'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome.<ref>{{OMIM\|~~187300~~}}</ref>		'''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>
	It may occur with [[Juvenile polyposis syndrome]].<ref>{{OMIM\|175050}}</ref>
			It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM\|175050}}</ref>

			==General==
			*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==
			*[[Vascular lesions]].

	==References==		==References==

Michael: more

2011-12-02T19:10:38Z

← Older revision		Revision as of 19:10, 2 December 2011
Line 1:		Line 1:
	'''Hereditary hemorrhagic telangiectasia''' is an inherited syndrome.<ref>{{OMIM\|187300}}</ref>		'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome.<ref>{{OMIM\|187300}}</ref>
	It may occur with [[Juvenile polyposis syndrome]].<ref>{{OMIM\|175050}}</ref>		It may occur with [[Juvenile polyposis syndrome]].<ref>{{OMIM\|175050}}</ref>

Michael: create

2011-12-02T17:59:29Z

create

New page

'''Hereditary hemorrhagic telangiectasia''' is an inherited syndrome.<ref>{{OMIM|187300}}</ref>
It may occur with [[Juvenile polyposis syndrome]].<ref>{{OMIM|175050}}</ref>

==References==
{{Reflist|2}}

[[Category:Syndromes]]