Table 2.

Angiogenesis-related rare diseases

n°	References	Orpha ID	Rare disease	Orpha genes	Orpha drugs
Subset A (rare oncologic diseases)
1	[1, 136]	519	Acute myeloid leukemia (ARD)*	19	33
2	[59]	213772	Adenocarcinoma of the cervix uteri	0	0
3	[128]	1501	Adrenocortical carcinoma	0	1
4	[47]	163699	Alveolar soft-part sarcoma	2	0
5	[114]	142	Anaplastic thyroid carcinoma	0	1
6	[52]	86886	Angioimmunoblastic T-cell lymphoma	0	0
7	11	98731	Arteriovenous fistula	0	0
8	[23, 26, 68, 79, 105, 143]	211266	Arteriovenous malformation	0	0
9	[51]	157980	Bladder Cancer	0	0
10	[125, 134]	223727	Bone sarcoma	7	0
11	[83]	3395	Brain tumor (ARD)*	17	0
12	[165]	97287	Bronchial endocrine tumor	0	0
13	[26]	137667	Capillary malformation-arteriovenous malformation	1	0
14	[45, 112, 143, 152]	164	Cerebral cavernous malformations	0	0
15	[99]	86829	Chronic neutrophilic leukemia	0	0
16	[61]	99970	Dedifferentiated liposarcoma	0	0
17	[61]	31112	Dermatofibrosarcoma protuberans	2	0
18	15	141209	Diffuse lymphatic malformation	0	0
19	[29, 138, 167]	877	Endocrine tumor	2	2
20	[29]	100092	Enteropancreatic endocrine tumor	0	2
21	[103]	99871	Eosinophilic granuloma	0	0
22	[65, 98, 139, 162]	157791	Epithelioid hemangioendothelioma	0	0
23	[147, 149]	99976	Esophageal adenocarcinoma	0	0
24	[149]	99977	Esophageal squamous cell carcinoma	1	0
25	[61, 134]	319	Ewing sarcoma	5	0
26	[51, 146, 164]	733	Familial adenomatous polyposis	1	4
27	[64]	523	Familial leiomyomatosis	1	0
28	20	99361	Familial medullary thyroid carcinoma	0	0
29	[39, 42, 47, 92, 104, 159, 160]	151	Familial renal cell carcinoma (ARD)*	11	22
30	[70, 135]	63443	Gastric cancer	2	5
31	[61, 97]	44890	Gastrointestinal stromal tumor	2	5
32	[5, 36, 83]	360	Glioblastoma	8	33
33	[5, 83]	182067	Glial tumor (ARD)*	9	26
34	[45]	83454	Glomuvenous malformation	1	1
35	[34]	99915	Granulosa cell malignant tumor	0	0
36	[184]	58017	Hairy cell leukemia	0	2
37	[76]	2126	Hemangiopericytoma	0	0
38	[123, 137]	88673	Hepatocellular carcinoma (ARD)*	2	14
39	[141]	227535	Hereditary breast cancer	0	0
40	[94, 107]	29072	Hereditary pheochromocytoma-paraganglioma syndrome	6	0
41	[166, 167]	97279	Insulinoma	0	3
42	[87, 118, 144, 158, 162, 169, 172, 177, 179, 180, 181, 185, 186]	33276	Kaposi's sarcoma	0	5
43	22	213807	Leiomyosarcoma of the cervix uteri	0	0
44	22	213625	Leiomyosarcoma of the corpus uteri	0	0
45	[111]	65285	Lhermitte-Duclos disease (ARD)*	1	0
46	[141]	524	Li-Fraumeni syndrome	2	1
47	[173]	69078	Liposarcoma	1	2
48	[24, 75]	168811	Malignant peritoneal mesothelioma	0	0
49	[67, 112]	3148	Malignant Schwannoma	0	0
50	6	98292	Mastocytosis	1	1
51	[20, 165]	1332	Medullary thyroid carcinoma	1	3
52	[56]	97338	Melanoma of soft part	2	0
53	[24, 75]	50251	Mesothelioma	0	3
54	[55, 77, 140, 166, 178, 184]	29073	Multiple myeloma	2	23
55	1	52688	Myelodysplastic syndromes	2	10
56	[61]	99967	Myxoid liposarcoma	1	0
57	[80]	209989	Non-papillary transitional cell carcinoma of the bladder	0	1
58	[134]	668	Osteosarcoma	2	5
59	[59]	213504	Ovarian adenocarcinoma	0	7
60	[142]	2800	Paget disease extramammary	0	0
61	[165]	217074	Pancreatic carcinoma	7	21
62	[94]	717	Pheochromocytoma and secreting paraganglioma (ARD)*	8	1
63	[14, 66, 115]	2905	POEMS syndrome	0	0
64	[87, 169, 172, 177, 180]	48686	Primary effusion lymphoma	0	0
65	[87, 144, 169, 172, 180, 181]	99923	Primary effusion lymphoma associated with HIV infection	0	0
66	[59]	213528	Rare adenocarcinoma of the breast	0	0
67	[74]	180250	Rare breast cancer (ARD)*	12	0
68	[12, 28, 39, 42, 47, 57, 63, 84, 92, 104, 122, 159, 160, 182]	217071	Renal cell carcinoma (ARD)*	12	24
69	[61]	69077	Rhabdoid tumor	2	0
70	[165]	70573	Small cell lung cancer	0	4
71	[9, 22, 56, 97, 125, 173]	3394	Soft tissue sarcomas	20	10
72	[162]	210584	Spindle cell hemangioma	0	0
73	[93]	67037	Squamous cell carcinoma of head and neck (ARD)*	4	5
74	[131]	99868	Thymic carcinoma	0	0
75	[131]	3398	Thymic epithelial tumor	0	0
76	[131]	100100	Thymic tumor	0	0
77	[131]	99867	Thymoma	0	0
78	[133]	1063	Tufted angioma	0	0
79	[52]	86885	Unspecified peripheral T-cell lymphoma	0	4
80	[85, 88, 159]	39044	Uveal melanoma	0	1
81	[61]	99971	Well-differentiated liposarcoma	0	0
Subset B (A-RDs with cancerous phenotype only in some of their features)
1	[111]	109	Bannayan-Riley-Ruvalcaba syndrome (ARD)*	1	0
2	[89, 184]	521	Chronic myeloid leukemia (ARD)*	3	12
3	[69]	53721	Cobb syndrome	0	0
4	[60, 109]	191	Cockayne syndrome	5	0
5	[95]	2414	Congenital pulmonary lymphangiectasia	0	0
6	[111]	201	Cowden syndrome (ARD)*	3	0
7	17	324	Fabry disease	1	3
8	[15,16, 73, 118]	73	Gorham-Stout disease	0	0
9	[35, 110]	90308	Klippel-Trenaunay syndrome (ARD)*	1	0
10	[90]	389	Langerhans cell histiocytosis	0	1
11	[174]	79383	Lymphedema (ARD)*	4	0
12	[50]	2451	Mucocutaneous venous malformations (ARD)*	1	1
13	[166, 167]	652	Multiple endocrine neoplasia type 1	2	2
14	[89, 148]	824	Myelofibrosis with myeloid metaplasia	1	2
15	[2, 61]	636	Neurofibromatosis type 1 (ARD)*	3	2
16	[53]	2869	Peutz-Jeghers syndrome	1	0
17	[91]	42775	PHACE syndrome	0	0
18	[89]	729	Polycythemia vera	1	5
19	[174]	77240	Primary lymphedema	2	0
20	[8,13,23, 45, 79, 105, 143]	774	Rendu-Osler-Weber disease (ARD)*	3	1
21	[37, 88]	3205	Sturge-Weber syndrome	0	0
22	[12, 29, 39, 42, 84, 88, 92, 122, 130, 161, 170, 182]	892	Von Hippel–Lindau disease (ARD)*	1	2
23	[187]	913	Zollinger-Ellison syndrome	1	3
Subset C (A-RDs without cancerous phenotype)
1	[25]	93585	Acquired thrombotic thrombocytopenic purpura due to anti-ADAMTS 13 antibodies	0	1
2	[54]	79126	Acute interstitial pneumonia	0	0
3	[19, 27, 32, 40, 43, 48, 62, 88, 176]	279	Age-related macular degeneration	6	1
4	[58, 126]	803	Amyotrophic lateral sclerosis (ARD)*	17	10
5	[35, 110]	2346	Angio-osteohypertrophic syndrome (ARD)*	2	0
6	[25]	2134	Atypical hemolytic uremic syndrome (ARD)*	6	3
7	[154]	3453	Autoimmune polyendocrinopathy type 1	1	0
8	[46]	117	Behcet disease	0	2
9	21	131	Budd-Chiari syndrome	0	0
10	[30, 120]	36258	Buerger's disease	0	0
11	[152]	136	CADASIL syndrome	1	0
12	[31, 179, 185]	160	Castleman disease	0	2
13	[154]	178029	Central diabetes insipidus	1	0
14	[68]	98044	Central nervous system malformation	0	0
15	[40]	179	Chorioretinopathy, Birdshot type	1	0
16	[155]	2137	Chronic autoimmune hepatitis	0	1
17	[117]	183	Churg-Strauss syndrome	0	1
18	[40, 109]	190	Coats disease	1	0
19	[78]	2041	Coronary arterial fistulas	0	0
20	[6, 103, 133]	206	Crohn disease	5	0
21	[116]	137698	Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk	0	1
22	[68]	97339	Dural sinus malformation	0	0
23	[40]	40923	Eales disease	0	0
24	[165]	99889	Ectopic Cushing syndrome	0	1
25	[72]	199323	Endophthalmitis	0	0
26	[183]	337	Fibrodysplasia ossificans progressiva (ARD)*	1	0
27	[45]	2092	Focal dermal hypoplasia	1	0
28	3	221126	Fowler syndrome	1	0
29	17	355	Gaucher disease	2	5
30	17	77260	Gaucher disease, type 2	1	4
31	17	77261	Gaucher disease, type 3	1	4
32	[154]	95509	Granulomatous hypophysitis	0	0
33	[121]	855	Hashimoto struma	1	0
34	[90]	158032	Hemophagocytic syndrome	14	1
35	[132, 152]	85458	Hereditary cerebral hemorrhage with amyloidosis	2	0
36	[132]	100006	Hereditary cerebral hemorrhage with amyloidosis, Dutch type	0	0
37	[157]	422	Idiopathic and/or familial pulmonary arterial hypertension (ARD)*	3	17
38	21	69665	Intrahepatic cholestasis of pregnancy	2	0
39	[100]	2778	Juvenile chronic recurrent multifocal osteomyelitis	0	0
40	[82]	2331	Kawasaki disease	0	1
41	[156]	1571	Knobloch syndrome (ARD)*	1	0
42	[101, 163]	530	Lipoid proteinosis (ARD)*	1	0
43	[7, 108]	538	Lymphangioleiomyomatosis	2	0
44	17	93448	Lysosomal storage disease with skeletal involvement	22	0
45	[86]	101338	Mediterranean spotted fever	0	0
46	[168]	54370	Membranoproliferative glomerulonephritis	1	0
47	[10, 127, 145]	565	Menkes disease	1	0
48	[68, 106]	2573	Moyamoya disease	1	0
49	[87, 144, 169, 172, 177, 180]	93686	Multicentric Castleman disease	0	0
50	[176]	94058	Neovascular glaucoma	1	0
51	[129]	649	Norrie disease	1	0
52	[25]	447	Paroxysmal nocturnal hemoglobinuria	0	2
53	17	85212	Perinatal-lethal Gaucher disease	1	0
54	18	563	Peripartum cardiomyopathy	0	0
55	[40]	758	Pseudoxanthoma elasticum	1	0
56	[4, 113, 157]	182090	Pulmonary arterial hypertension	0	3
57	[96, 153]	199241	Pulmonary capillary hemangiomatosis	0	2
58	[113]	71198	Rare pulmonary hypertension	0	1
59	[38]	60032	Recurrent respiratory papillomatosis	0	0
60	[40, 102, 171, 176]	90050	Retinopathy of prematurity	1	2
61	[33]	49041	Retroperitoneal fibrosis	0	0
62	[86]	102021	Rickettsiae disease	0	0
63	[17, 82]	797	Sarcoidosis	1	2
64	[81, 124]	801	Scleroderma	0	3
65	[166]	36426	Stevens-Johnson syndrome	0	0
66	[99]	3243	Sweet syndrome	0	0
67	[116, 119, 154]	536	Systemic lupus erythematosus	2	1
68	[81]	90291	Systemic sclerosis	0	3
69	[135]	93573	Thrombotic microangiopathy	0	0
70	[25, 151]	54057	Thrombotic thrombocytopenic purpura	1	5
71	[25]	90038	Typical hemolytic uremic syndrome	0	1
72	[117]	52759	Vasculitis	0	0
73	[49, 109, 129]	98668	Vitreoretinopathy (ARD)*	14	0
74	[86, 151, 175]	903	Von Willebrand disease	1	3
75	[150]	51636	WHIM syndrome	1	0
76	[82, 127, 145]	905	Wilson disease	1	4

^*ARD: angiogenic rare disease.