GDF2 (growth differentiation factor 2)

Gene

• Entrez ID: 2658
• Gene name: Growth differentiation factor 2
• Gene symbol: GDF2
• Synonyms: BMP-9, BMP9, HHT5
• Chromosome: 10
• Chromosome location: 10q11.22
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35129734	C>A,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs139568056	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, terminator codon variant
rs199804679	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs200330818	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1015721	hsa-miR-149	CLIP-seq
MIRT1015722	hsa-miR-24	CLIP-seq
MIRT1015723	hsa-miR-3064-5p	CLIP-seq
MIRT1015724	hsa-miR-4284	CLIP-seq
MIRT1015725	hsa-miR-4794	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	TAS	20406889
GO:0001525	Process	Angiogenesis	IMP	23972370
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IDA	20406889
GO:0001570	Process	Vasculogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	20406889
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	20406889
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17068149
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006879	Process	Cellular iron ion homeostasis	TAS	20406889
GO:0008083	Function	Growth factor activity	IEA
GO:0008156	Process	Negative regulation of DNA replication	TAS	20406889
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	17068149
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	17068149, 19366699, 19903896
GO:0016525	Process	Negative regulation of angiogenesis	TAS	20406889
GO:0030308	Process	Negative regulation of cell growth	IDA	17068149
GO:0030509	Process	BMP signaling pathway	IDA	17068149, 19366699
GO:0030509	Process	BMP signaling pathway	TAS
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	19366699
GO:0032924	Process	Activin receptor signaling pathway	IDA	17068149
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	TAS	20406889
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	20406889
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	17068149
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19366699
GO:0048514	Process	Blood vessel morphogenesis	IDA	20406889
GO:0051216	Process	Cartilage development	TAS	20406889
GO:0060389	Process	Pathway-restricted SMAD protein phosphorylation	IDA	17068149
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071773	Process	Cellular response to BMP stimulus	IDA	19366699
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IDA	19366699

Other IDs

• MIM: 605120
• HGNC: 4217
• e!Ensembl: ENSG00000263761

Protein

• UniProt ID: Q9UK05
• Protein name: Growth/differentiation factor 2 (GDF-2) (Bone morphogenetic protein 9) (BMP-9)
• Protein function: Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. {ECO:0000269|PubMed:18309101, ECO:000026
• PDB: 1ZKZ, 4FAO, 4MPL, 4YCG, 4YCI, 5HZW, 5I05, 9DPM, 9DPN, 9DPO, 9DPP, 9DPQ, 9DPR, 9DPS, 9DPT, 9DPU, 9DPV, 9DPW, 9DPX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	56 → 257	TGF-beta propeptide	Family
  PF00019	TGF_beta	326 → 428	Transforming growth factor beta like domain	Domain

• Sequence:

  MCPGALWVALPLLSLLAGSLQGKPLQSWGRGSAGGNAHSPLGVPGGGLPEHTFNLKMFLE
  NVKVDFLRSLNLSGVPSQDKTRVEPPQYMIDLYNRYTSDKSTTPASNIVRSFSMEDAISI
  TATEDFPFQKHILLFNISIPRHEQITRAELRLYVSCQNHVDPSHDLKGSVVIYDVLDGTD
  AWDSATETKTFLVSQDIQDEGWETLEVSSAVKRWVRSDSTKSKNKLEVTVESHRKGCDTL
  DISVPPGSRNLPFFVVFSNDHSSGTKETRLELREMISHEQESVLKKLSKDGSTEAGESSH
  EEDTDGHVAAGSTLARRKRSAGAGSHCQKTSLRVNFEDIGWDSWIIAPKEYEAYECKGGC
  FFPLADDVTPTKHAIVQTLVHLKFPTKVGKACCVPTKLSPISVLYKDDMGVPTLKYHYEG
  MSVAECGCR

• Sequence length: 429

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Reactome:

Signaling by BMP

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Iron-Refractory Iron Deficiency Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Hereditary hemorrhagic telangiectasia	Hereditary hemorrhagic telangiectasia	rs121918400, rs2131875838, rs1564457752, rs121918402, rs373842615, rs730880096, rs863223539, rs863223538, rs863223541, rs863223543, rs863223542, rs863223536, rs863223540, rs863223537, rs863223534, rs863223532, rs863223414, rs863223413, rs863223406, rs864622666, rs878853657, rs878853659, rs878853658, rs886039505, rs886039506, rs886041325, rs886041326, rs886042916, rs1057517944, rs1057521648, rs1060501421, rs1060501413, rs1060501422, rs1060501419, rs1060501410, rs1060501412, rs1554810257, rs1060501414, rs1060501408, rs1064792934, rs1060501417, rs1060501418, rs1064794218, rs1064793889, rs1064793734, rs1064794219, rs1064794220, rs1085307433, rs1085307409, rs1085307429, rs1131691422, rs1131691444, rs1131691931, rs1131691686, rs1554810051, rs1554810378, rs1554809228, rs1554809268, rs1554809450, rs1554810232, rs1554810490, rs1554813788, rs1554810936, rs1197761705, rs111471193, rs1555152440, rs1555152966, rs1555153354, rs1554809361, rs761353511, rs1554812283, rs1554813783, rs1554809448, rs1554809446, rs1554809455, rs1554809516, rs1554810215, rs1554810928, rs1554810177, rs1554810510, rs1554810921, rs1554812253, rs267606783, rs1554809229, rs763475207, rs1554810041, rs1554810272, rs1554809513, rs1329127701, rs1060501420, rs1554809106, rs1554810405, rs1554809355, rs1452543778, rs1554809348, rs1554809363, rs1554810932, rs1554809331, rs774429348, rs1554810174, rs1564452075, rs1564452685, rs1564453619, rs1564455554, rs1564455604, rs12042, rs369596004, rs1564453019, rs1564455715, rs1564456374, rs773334730, rs1564466414, rs1564452747, rs1564453538, rs1440769928, rs1252348200, rs1564452667, rs1564452759, rs1564455970, rs1434169817, rs1335718486, rs1564462765, rs1588574749, rs997074986, rs1588576923, rs1588577016, rs1588580782, rs1588581338, rs1588581785, rs1588581867, rs1588581880, rs1588581902, rs1588581961, rs1588582695, rs1588582870, rs1588582962, rs1588583488, rs1588583530, rs1588583640, rs1588585880, rs1588585941, rs1588585997, rs1588596879, rs1588604603, rs1592223399, rs1592224087, rs1588580932, rs1588582594, rs1588582860, rs1588596830, rs1830375228, rs1830384447, rs1830384910, rs1830385077, rs1830432509, rs1830432773, rs1830579035, rs1243079862, rs1830599875, rs1830620321, rs1830620889, rs1830345043, rs113930974	23972370, 26801773
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Migraine	Migraine Disorders	rs794727411
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Pulmonary hypertension	Familial primary pulmonary hypertension	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	26801773
Telangiectasia	Telangiectasia, Hereditary Hemorrhagic, Type 1	rs121909284, rs28936399, rs121909285, rs387906392, rs121909286, rs28936401, rs387906393, rs121909287, rs121909288, rs28936687, rs28936688, rs121909289, rs387906394, rs121918400, rs2131886961, rs2131875838, rs1564457752, rs267606783, rs121918401, rs121918402, rs267606632, rs141764916, rs373842615, rs730880096, rs863223538, rs863223542, rs863223536, rs863223540, rs863223415, rs863223409, rs863223414, rs863223410, rs863223416, rs758683062, rs863223412, rs863223413, rs863223406, rs1555154144, rs863223408, rs864622666, rs878853657, rs878853659, rs387906391, rs757645341, rs886039505, rs886039506, rs1057517944, rs1057521648, rs774389618, rs1057521203, rs1060501410, rs1060501414, rs1060501408, rs1060501418, rs1060503246, rs1060503249, rs1060503237, rs779485996, rs1060503236, rs1060503241, rs1060503240, rs1060503245, rs1060503247, rs1060503242, rs1060503248, rs1060503235, rs1060503238, rs1064795636, rs1064794219, rs1064794220, rs1064794217, rs1085307432, rs1085307405, rs1085307409, rs1085307410, rs1085307414, rs1085307415, rs1085307417, rs1085307418, rs1085307419, rs1085307422, rs1085307426, rs1085307428, rs1085307429, rs1131691422, rs1131691444, rs1131691931, rs1131691686, rs962224649, rs1554810378, rs1554809450, rs1554810490, rs1555152899, rs1555153126, rs1555153848, rs1555152710, rs1555152520, rs1555152955, rs1555152966, rs1555153354, rs1554810249, rs1554813783, rs1554809516, rs1554810215, rs1554810510, rs763475207, rs1329127701, rs1554810037, rs1555152548, rs1555152771, rs1555152935, rs1555153830, rs1555152786, rs1555152909, rs1555153131, rs1555153796, rs1555152468, rs1555152774, rs1555152815, rs1166311240, rs1301762186, rs1555153277, rs1555153382, rs1554810066, rs1555152447, rs1555152455, rs1554810506, rs1318446539, rs1554809363, rs1318118188, rs1555153133, rs1555152345, rs1555152454, rs1555153828, rs1555153854, rs1555153077, rs148057374, rs1554810408, rs1564455554, rs1564453019, rs1564455715, rs1564452747, rs1252348200, rs1565594467, rs1565594524, rs1565594969, rs1565595121, rs1565595176, rs1565594536, rs1565594547, rs1565594311, rs1565596508, rs1565593274, rs1565595129, rs111710113, rs1564452060, rs1434169817, rs1335718486, rs1564462765, rs775754117, rs1565593639, rs1565594920, rs1565596498, rs1588581846, rs1588577016, rs1588581902, rs1588582695, rs1588583488, rs1588596879, rs1592221728, rs1592221830, rs1592221930, rs556168617, rs1592223399, rs1592223416, rs1592223468, rs1592223490, rs1592224087, rs1592224385, rs762287966, rs1592224402, rs1592224412, rs765895870, rs1592225036, rs1592225044, rs1060503243, rs1592228303, rs1588580932, rs1588582594, rs1592223028, rs1343053876, rs1588581497, rs1588582666, rs1588582860, rs1060501417, rs1588596830, rs1592221459, rs1592223964, rs959973779, rs1592225112, rs1592222308, rs1830384910, rs1830385077, rs1554809448, rs1940729491, rs1184716348, rs1940782891, rs1940783683, rs1940807179, rs1592224291, rs1940812366, rs1940813954, rs1940830552, rs1940833669, rs1940834530, rs1940836783, rs1940837338, rs1940906429, rs771606504, rs1940908116, rs1940908457, rs1940955941, rs1940785759, rs1940838178, rs1830345043, rs1940812948	26801773
Telangiectasia, hereditary hemorrhagic	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5	rs199804679, rs200330818, rs1555208696, rs1358534877	23972370, 25674101

Unknown
Disease name	Disease term	dbSNP ID	References
Cholecystitis	Cholecystitis
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Conjunctival telangiectasis	Conjunctival telangiectasis
Esophageal varix	Esophageal Varices
Hemangioma, cavernous	Hemangioma, Cavernous
Hematomas	Spontaneous hematomas
Intestinal polyposis	Intestinal Polyposis
Liver carcinoma	Liver carcinoma		28284560, 23936038
Nephrolithiasis	Nephrolithiasis
Portal hypertension	Portal Hypertension
Retinal telangiectasia	Retinal telangiectasia
Subarachnoid hemorrhage	Subarachnoid Hemorrhage
Transient ischemic attack	Transient Ischemic Attack
Visceral angiomatosis	Visceral angiomatosis