. Author manuscript; available in PMC: 2018 Jul 1.

Published in final edited form as: Semin Cell Dev Biol. 2016 May 10;67:123–131. doi: 10.1016/j.semcdb.2016.05.006

Table 1.

Mendelian diseases associated with capillary abnormalities

Disease	Affected Gene Product(s)	OMIM entries
Cerebral cavernous malformation (CCM)	CCM1/Krit1 CCM2/malcavernin CCM3/PDCD10	OMIM: 116860; 603284; 603285
Hereditary Hemorrhagic Telangiecstasia (HHT)	HHT1/Endoglin HHT2/ALK1/ACVRL1 HHT5/GDF2/BMP9	OMIM: 187300; 600376; 615506
Juvenile Polyposis with Hereditary Hemorrhagic Telangiecstasia (JP/HHT)	SMAD4	OMIM: 175050
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)	Notch3	OMIM: 125310
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	HTRA1 serine protease	OMIM: 600142
COL4A1/A2-related angiopathies	COL4A1 COL4A2	OMIM: 607595; 614519
Retinal vasculopathy with cerebral leukodystrophy (RVCL)	TREX1 exonuclease	OMIM: 192315