Hereditary disorder of connective tissue

MONDO:0023603

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

Also known as: Mendelian connective tissue disorder, connective tissue hereditary disorder, hereditary connective tissue disorder, Hereditary Connective Tissue Disorder, Inherited disorder of connective tissue, inherited disorder of connective tissue

1314 clinical trials for this condition and its sub-types, 0 tagged with Hereditary disorder of connective tissue itself.

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Where it sits in the disease tree

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↑ Hereditary disease (18235) ↑ Connective tissue disorder (4647)

Sub-types of Hereditary disorder of connective tissue

Systemic lupus erythematosus 518 trials · 524 incl. sub-types
10 sub-types
- Pediatric systemic lupus erythematosus 16 trials
- Central nervous system lupus 3 trials
- Neonatal lupus erythematosus 1 trial
- Autosomal systemic lupus erythematosus type 16 0 trials
- Bullous systemic lupus erythematosus 0 trials
- Systemic lupus erythematosus 17 0 trials
- Systemic lupus erythematosus 18 0 trials
- Systemic lupus erythematosus related to C1QA 0 trials
- Systemic lupus erythematosus related to C1S 0 trials
- Systemic lupus erythematosus related to C4A 0 trials
Chronic myelogenous leukemia, BCR-ABL1 positive 211 trials · 253 incl. sub-types
3 sub-types
- Blast phase chronic myelogenous leukemia, BCR-ABL1 positive 64 trials
- Leukemia, myeloid, accelerated-phase 30 trials
- Familial chronic myelocytic leukemia-like syndrome 0 trials
Uterine corpus leiomyoma 104 trials · 109 incl. sub-types
11 sub-types
- Submucous uterine fibroid 3 trials
- Uterine corpus diffuse leiomyomatosis 2 trials
- Subserous uterine fibroid 0 trials
- Uterine corpus apoplectic leiomyoma 0 trials
- Uterine corpus bizarre leiomyoma 0 trials
- Uterine corpus cellular leiomyoma 0 trials
- Uterine corpus dissecting leiomyoma 0 trials
- Uterine corpus epithelioid leiomyoma 0 trials
- Uterine corpus lipoleiomyoma 0 trials
- Uterine corpus myxoid leiomyoma 0 trials
- Uterus interstitial leiomyoma 0 trials
Acquired polycythemia vera 90 trials
Chondrosarcoma 39 trials · 44 incl. sub-types
4 sub-types
- Bone chondrosarcoma 1 trial · 10 incl. sub-types Sub-types →
- Mesenchymal chondrosarcoma 4 trials Sub-types →
- Myxoid chondrosarcoma 2 trials Sub-types →
- Localized chondrosarcoma 0 trials
Type 2 collagenopathy 0 trials · 39 incl. sub-types
14 sub-types
- Dysplasia of the proximal femoral epiphyses 0 trials · 36 incl. sub-types Sub-types →
- Stickler syndrome type 1 3 trials Sub-types →
- Kniest dysplasia 0 trials
- Achondrogenesis type II 0 trials
- Hypochondrogenesis 0 trials
- Multiple epiphyseal dysplasia, Beighton type 0 trials
- Platyspondylic dysplasia, Torrance type 0 trials
- Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
- Spondyloepiphyseal dysplasia congenita 0 trials
- Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
- Spondyloepiphyseal dysplasia, Stanescu type 0 trials
- Spondylometaphyseal dysplasia, 'corner fracture' type 0 trials
- Spondylometaphyseal dysplasia, Schmidt type 0 trials
- Spondyloperipheral dysplasia 0 trials
CHILD syndrome 37 trials
Desmoid tumor 36 trials
1 sub-type
- Desmoid tumor caused by somatic mutation 0 trials
Familial isolated pituitary adenoma 1 trial · 31 incl. sub-types
6 sub-types
- Cushing disease due to pituitary adenoma 23 trials
- Prolactin-producing pituitary gland adenoma 11 trials
- Growth hormone secreting pituitary adenoma 1 1 trial
- Pituitary adenoma 3, multiple types 0 trials
- Pituitary adenoma 5, multiple types 0 trials
- Pituitary adenoma, growth hormone-secreting, 2 0 trials
Inherited acute myeloid leukemia 1 trial · 25 incl. sub-types
3 sub-types
- Acute promyelocytic leukemia 20 trials
- Mixed phenotype acute leukemia with t(v;11q23.3) 3 trials
- Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 1 trial
Hereditary periodic fever syndrome 5 trials · 24 incl. sub-types
6 sub-types
- Familial Mediterranean fever 15 trials Sub-types →
- Cryopyrin-associated periodic syndrome 10 trials Sub-types →
- TNF receptor 1-associated periodic fever syndrome 4 trials
- Mevalonate kinase deficiency 3 trials · 4 incl. sub-types Sub-types →
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome 2 trials
- Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 0 trials
Marfan and Marfan-related disorder 1 trial · 22 incl. sub-types
4 sub-types
- Marfan syndrome 21 trials Sub-types →
- Loeys-Dietz syndrome 6 trials Sub-types →
- Shprintzen-Goldberg syndrome 1 trial
- Congenital contractural arachnodactyly 1 trial
VEXAS syndrome 18 trials
Hypermobility spectrum disorder 17 trials
Peyronie disease 12 trials
Aicardi-Goutieres syndrome 9 trials
10 sub-types
- Aicardi-Goutieres syndrome 1 2 trials Sub-types →
- Aicardi-Goutieres syndrome 2 0 trials
- Aicardi-Goutieres syndrome 3 0 trials
- Aicardi-Goutieres syndrome 4 0 trials
- Aicardi-Goutieres syndrome 5 0 trials
- Aicardi-Goutieres syndrome 6 0 trials
- Aicardi-Goutieres syndrome 7 0 trials
- Aicardi-Goutieres syndrome 8 0 trials
- Aicardi-Goutieres syndrome 9 0 trials
- Basal ganglia calcification, idiopathic, childhood-onset 0 trials
Autosomal recessive inherited pseudoxanthoma elasticum 7 trials
Ewing sarcoma of bone 5 trials
TREX1-related type 1 interferonopathy 0 trials · 5 incl. sub-types
3 sub-types
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 3 trials
- Aicardi-Goutieres syndrome 1 2 trials Sub-types →
- Chilblain lupus 1 0 trials
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 4 trials
Chronic recurrent multifocal osteomyelitis 3 trials · 4 incl. sub-types
3 sub-types
- Sterile multifocal osteomyelitis with periostitis and pustulosis 2 trials
- Majeed syndrome 0 trials
- Chronic recurrent multifocal osteomyelitis 3 0 trials
Blau syndrome 3 trials
Ollier disease 3 trials
Autoimmune interstitial lung disease-arthritis syndrome 3 trials
2 sub-types
- Autoinflammation and autoimmunity with immune dysregulation 1 0 trials
- Autoinflammation and autoimmunity with immune dysregulation 2 0 trials
Deficiency of adenosine deaminase 2 3 trials
Hereditary multiple osteochondromas 3 trials
3 sub-types
- Exostoses, multiple, type 1 2 trials
- Exostoses, multiple, type 2 0 trials
- Exostoses, multiple, type III 0 trials
Inherited torticollis 3 trials
Maffucci syndrome 2 trials
STING-associated vasculopathy with onset in infancy 2 trials
Familial chilblain lupus 2 trials
2 sub-types
- Chilblain lupus 1 0 trials
- Chilblain lupus 2 0 trials
Proteosome-associated autoinflammatory syndrome 2 trials
6 sub-types
- Proteasome-associated autoinflammatory syndrome 1 1 trial
- Proteasome-associated autoinflammatory syndrome 2 0 trials
- Proteasome-associated autoinflammatory syndrome 3 0 trials
- Proteasome-associated autoinflammatory syndrome 4 0 trials
- Proteasome-associated autoinflammatory syndrome 5 0 trials
- Proteasome-associated autoinflammatory syndrome 6 0 trials
Sweet syndrome 2 trials
Singleton-Merten dysplasia 1 trial
2 sub-types
- Singleton-Merten syndrome 1 0 trials
- Singleton-Merten syndrome 2 0 trials
Arterial tortuosity syndrome 1 trial
Cherubism 1 trial
1 sub-type
- Al Gazali Khidr Prem Chandran syndrome 0 trials
Hyperparathyroidism 2 with jaw tumors 1 trial
Infantile myofibromatosis 1 trial
2 sub-types
- Myofibromatosis, infantile, 1 0 trials
- Myofibromatosis, infantile, 2 0 trials
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
2 sub-types
- Dyschromatosis symmetrica hereditaria 1 trial
- Aicardi-Goutieres syndrome 6 0 trials
EMILIN-1-related connective tissue disease 0 trials
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
IFIH1-related type 1 interferonopathy 0 trials
2 sub-types
- Aicardi-Goutieres syndrome 7 0 trials
- Singleton-Merten syndrome 1 0 trials
IL10-related early-onset inflammatory bowel disease 0 trials
2 sub-types
- Inflammatory bowel disease 25 0 trials
- Inflammatory bowel disease 28 0 trials
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
1 sub-type
- Aicardi-Goutieres syndrome 4 0 trials
RNASEH2B-related type 1 interferonopathy 0 trials
1 sub-type
- Aicardi-Goutieres syndrome 2 0 trials
RNASEH2C-related type 1 interferonopathy 0 trials
1 sub-type
- Aicardi-Goutieres syndrome 3 0 trials
RNU7-1-related type 1 interferonopathy 0 trials
1 sub-type
- Aicardi-Goutieres syndrome 9 0 trials
SAMHD1-related type 1 interferonopathy 0 trials
2 sub-types
- Aicardi-Goutieres syndrome 5 0 trials
- Chilblain lupus 2 0 trials
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
2 sub-types
- Early-onset autoimmune disorder due to DOCK11 partial deficiency 0 trials
- Early-onset immune dysregulation due to DOCK11 complete deficiency 0 trials
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
2 sub-types
- Autoinflammatory syndrome, familial, Behcet-like 1 0 trials
- Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0 trials
Bone fragility with contractures, arterial rupture, and deafness 0 trials
Brittle cornea syndrome 0 trials
2 sub-types
- Brittle cornea syndrome 1 0 trials
- Brittle cornea syndrome 2 0 trials
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
1 sub-type
- Malignant jugulotympanic paraganglioma 0 trials
Juvenile hyaline fibromatosis 0 trials
Linkeropathy 0 trials
3 sub-types
- Desbuquois dysplasia 2 0 trials
- Spondylo-ocular syndrome 0 trials
- Spondylodysplastic Ehlers-Danlos syndrome 0 trials
Multiple epiphyseal dysplasia due to collagen 9 anomaly 0 trials
3 sub-types
- Epiphyseal dysplasia, multiple, 2 0 trials
- Epiphyseal dysplasia, multiple, 3 0 trials
- Epiphyseal dysplasia, multiple, 6 0 trials
Multiple symmetric lipomatosis 0 trials
1 sub-type
- Multiple symmetric lipomatosis with partial lipodystrophy 0 trials
Neonatal inflammatory skin and bowel disease 0 trials
2 sub-types
- Inflammatory skin and bowel disease, neonatal, 1 0 trials
- Inflammatory skin and bowel disease, neonatal, 2 0 trials
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
2 sub-types
- Trichohepatoenteric syndrome 1 0 trials
- Trichohepatoenteric syndrome 2 0 trials

Most studied deeper sub-types

Avascular necrosis of femoral head, primary, 1 (34) Dedifferentiated chondrosarcoma (9) Legg-Calve-Perthes disease (9) CINCA syndrome (4) Clear cell chondrosarcoma (3) Familial cold autoinflammatory syndrome (3) Muckle-Wells syndrome (3) Hyperimmunoglobulinemia D with periodic fever (2) Adult mesenchymal chondrosarcoma (0) Adult myxoid chondrosarcoma (0) Aneurysm-osteoarthritis syndrome (0) Autosomal recessive familial Mediterranean fever (0) Familial cold autoinflammatory syndrome 1 (0) Familial cold autoinflammatory syndrome 2 (0) Familial cold autoinflammatory syndrome 3 (0) Familial cold autoinflammatory syndrome 4 (0) Familial Mediterranean fever, autosomal dominant (0) Loeys-Dietz syndrome 1 (0) Loeys-Dietz syndrome 2 (0) Loeys-Dietz syndrome 4 (0)

Including sub-types (1314) Tagged with Hereditary disorder of connective tissue (0)

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