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Acroosteolysis dominant type
ADAR-related type 1 interferonopathy +
Aicardi-Goutieres syndrome +
angioosteohypertrophic syndrome
arterial calcification of infancy +
arterial occlusive disease +
arterial tortuosity syndrome
autoimmune interstitial lung disease-arthritis syndrome
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
autoinflammatory disease, systemic, with vasculitis
autoinflammatory disease, X-linked
autoinflammatory syndrome with immunodeficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome, familial, Behcet-like +
autosomal recessive inherited pseudoxanthoma elasticum
autosomal systemic lupus erythematosus type 16
Bannayan-Riley-Ruvalcaba syndrome
bleeding disorder, vascular-type
bone fragility with contractures, arterial rupture, and deafness
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
chronic granulomatous disease +
chronic inflammation of lacrimal passage +
chronic inflammatory demyelinating polyradiculoneuropathy
chronic myelogenous leukemia +
chronic recurrent multifocal osteomyelitis +
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Coronary-Subclavian Steal Syndrome
deficiency of adenosine deaminase 2 +
dermatofibrosarcoma protuberans
Desmoid-type fibromatosis +
diaphyseal medullary stenosis-bone malignancy syndrome
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, vascular type +
Ehlers-Danlos syndrome, vascular-like type
EMILIN-1-related connective tissue disease
encephalocraniocutaneous lipomatosis
familial chilblain lupus +
familial isolated pituitary adenoma +
familial thoracic aortic aneurysm and aortic dissection +
fulminant viral hepatitis
Hemangiopericytic Neoplasm +
hepatic vascular disorder +
hereditary arterial and articular multiple calcification syndrome
hereditary multiple osteochondromas +
hereditary periodic fever syndrome +
hyperparathyroidism 2 with jaw tumors
idiopathic juvenile osteoporosis
IFIH1-related type 1 interferonopathy +
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +
infantile myofibromatosis +
inflammation of heart layer +
inherited acute myeloid leukemia
jugulotympanic paraganglioma +
juvenile hyaline fibromatosis
lethal arteriopathy syndrome due to fibulin-4 deficiency
lymphatic vessel neoplasm +
macrovascular complications of diabetes
Marfan and Marfan-related disorder +
multiple cutaneous and mucosal venous malformations
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple symmetric lipomatosis
multisystemic smooth muscle dysfunction syndrome
neonatal inflammatory skin and bowel disease +
neonatal severe primary hyperparathyroidism
non-alcoholic steatohepatitis
ocular vascular disease +
orbit embryonal rhabdomyosarcoma
ossification of the posterior longitudinal ligament of the spine
patent ductus arteriosus 2
Pelger-Huet-like anomaly and episodic fever with abdominal pain
Pelvic Inflammatory Disease +
peripheral vascular disease +
progeroid and marfanoid aspect-lipodystrophy syndrome
proteosome-associated autoinflammatory syndrome +
pulmonary venoocclusive disease +
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
renal nutcracker syndrome
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
rheumatic heart disease +
RNU7-1-related type 1 interferonopathy +
Singleton-Merten dysplasia +
Spondyloenchondrodysplasia with immune dysregulation
STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
Superior Vena Cava Syndrome
Systemic capillary leak syndrome
thoracic outlet syndrome +
thromboangiitis obliterans
TREX1-related type 1 interferonopathy +
trichohepatoenteric syndrome
vascular disorder of penis
vascular hemostatic disease +
vascular insufficiency disorder +
vascular occlusion disorder +
viral human hepatitis infection +
X-linked reticulate pigmentary disorder
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