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Up to: Hereditary disease · Connective tissue disorder

Hereditary disorder of connective tissue

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.

0 trials tagged with this condition →

Systemic lupus erythematosus 516 trials · 522 incl. sub-types Sub-types →
Chronic myelogenous leukemia, BCR-ABL1 positive 211 trials · 253 incl. sub-types Sub-types →
Uterine corpus leiomyoma 104 trials · 109 incl. sub-types Sub-types →
Acquired polycythemia vera 90 trials
Chondrosarcoma 39 trials · 44 incl. sub-types Sub-types →
Type 2 collagenopathy 0 trials · 39 incl. sub-types Sub-types →
CHILD syndrome 37 trials
Desmoid tumor 36 trials Sub-types →
Familial isolated pituitary adenoma 1 trial · 31 incl. sub-types Sub-types →
Inherited acute myeloid leukemia 1 trial · 25 incl. sub-types Sub-types →
Hereditary periodic fever syndrome 5 trials · 24 incl. sub-types Sub-types →
Marfan and Marfan-related disorder 1 trial · 22 incl. sub-types Sub-types →
VEXAS syndrome 18 trials
Hypermobility spectrum disorder 16 trials
Peyronie disease 12 trials
Aicardi-Goutieres syndrome 9 trials Sub-types →
Autosomal recessive inherited pseudoxanthoma elasticum 7 trials
Ewing sarcoma of bone 5 trials
TREX1-related type 1 interferonopathy 0 trials · 5 incl. sub-types Sub-types →
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 4 trials
Chronic recurrent multifocal osteomyelitis 3 trials · 4 incl. sub-types Sub-types →
Blau syndrome 3 trials
Ollier disease 3 trials
Autoimmune interstitial lung disease-arthritis syndrome 3 trials Sub-types →
Deficiency of adenosine deaminase 2 3 trials
Hereditary multiple osteochondromas 3 trials Sub-types →
Inherited torticollis 3 trials
Maffucci syndrome 2 trials
STING-associated vasculopathy with onset in infancy 2 trials
Familial chilblain lupus 2 trials Sub-types →
Proteosome-associated autoinflammatory syndrome 2 trials Sub-types →
Sweet syndrome 2 trials
Singleton-Merten dysplasia 1 trial Sub-types →
Arterial tortuosity syndrome 1 trial
Cherubism 1 trial Sub-types →
Hyperparathyroidism 2 with jaw tumors 1 trial
Infantile myofibromatosis 1 trial Sub-types →
Neonatal severe primary hyperparathyroidism 1 trial
Ossification of the posterior longitudinal ligament of the spine 1 trial
ADAR-related type 1 interferonopathy 0 trials · 1 incl. sub-types Sub-types →
EMILIN-1-related connective tissue disease 0 trials
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
IFIH1-related type 1 interferonopathy 0 trials Sub-types →
IL10-related early-onset inflammatory bowel disease 0 trials Sub-types →
LAMA5-related multisystemic syndrome 0 trials
MASS syndrome 0 trials
Pelger-Huet-like anomaly and episodic fever with abdominal pain 0 trials
RNASEH2A-related type 1 interferonopathy 0 trials Sub-types →
RNASEH2B-related type 1 interferonopathy 0 trials Sub-types →
RNASEH2C-related type 1 interferonopathy 0 trials Sub-types →
RNU7-1-related type 1 interferonopathy 0 trials Sub-types →
SAMHD1-related type 1 interferonopathy 0 trials Sub-types →
Sharpin-related autoinflammatory syndrome 0 trials
Spondyloenchondrodysplasia with immune dysregulation 0 trials
X-linked reticulate pigmentary disorder 0 trials
Acroosteolysis dominant type 0 trials
Aneurysmal bone cyst 0 trials
Arterial tortuosity-bone fragility syndrome 0 trials
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 trials
Autoinflammatory disease, X-linked 0 trials
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 trials Sub-types →
Autoinflammatory disease, systemic, with vasculitis 0 trials
Autoinflammatory syndrome with immunodeficiency 0 trials
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
Autoinflammatory syndrome, familial, Behcet-like 0 trials Sub-types →
Bone fragility with contractures, arterial rupture, and deafness 0 trials
Brittle cornea syndrome 0 trials Sub-types →
Chondrocalcinosis 2 0 trials
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
Diaphyseal medullary stenosis-bone malignancy syndrome 0 trials
Encephalocraniocutaneous lipomatosis 0 trials
Familial ossifying fibroma 0 trials
Hyperparathyroidism 1 0 trials
Hyperparathyroidism 3 0 trials
Hyperparathyroidism 4 0 trials
Idiopathic juvenile osteoporosis 0 trials
Jugulotympanic paraganglioma 0 trials Sub-types →
Juvenile hyaline fibromatosis 0 trials
Linkeropathy 0 trials Sub-types →
Multiple epiphyseal dysplasia due to collagen 9 anomaly 0 trials Sub-types →
Multiple symmetric lipomatosis 0 trials Sub-types →
Neonatal inflammatory skin and bowel disease 0 trials Sub-types →
Progeroid and marfanoid aspect-lipodystrophy syndrome 0 trials
Pseudo-TORCH syndrome 2 0 trials
Psoriasis 14, pustular 0 trials
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 trials
Thrombocytopenia 6 0 trials
Trichohepatoenteric syndrome 0 trials Sub-types →