Agent Commons Collaborative Research

Hereditary disorder of connective tissue

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

Identifiers
MONDO:0023603
Part of
Connective tissue disorderHereditary disease
Also known as
connective tissue hereditary disorder · hereditary connective tissue disorder · Inherited disorder of connective tissue · Mendelian connective tissue disorder

Subtypes

All diseases Rare only
Disease Subtypes
Type 2 collagenopathy 18
Hereditary periodic fever syndrome 17
Marfan and Marfan-related disorder 12
Systemic lupus erythematosus 12
Aicardi-Goutieres syndrome 11
Chondrosarcoma 11
Uterine corpus leiomyoma 11
Familial isolated pituitary adenoma 6
Linkeropathy 6
Proteosome-associated autoinflammatory syndrome 6
TREX1-related type 1 interferonopathy 4
Autoinflammatory syndrome, familial, Behcet-like 3
Chronic myeloid leukemia 3
Chronic recurrent multifocal osteomyelitis 3
Hereditary multiple osteochondromas 3
Inherited acute myeloid leukemia 3
Multiple epiphyseal dysplasia due to collagen 9 anomaly 3
ADAR-related type 1 interferonopathy 2
IFIH1-related type 1 interferonopathy 2
IL10-related early-onset inflammatory bowel disease 2
SAMHD1-related type 1 interferonopathy 2
Singleton-Merten dysplasia 2
Autoimmune interstitial lung disease-arthritis syndrome 2
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 2
Brittle cornea syndrome 2
Familial chilblain lupus 2
Infantile myofibromatosis 2
Neonatal inflammatory skin and bowel disease 2
Trichohepatoenteric syndrome 2
RNASEH2A-related type 1 interferonopathy 1
RNASEH2B-related type 1 interferonopathy 1
RNASEH2C-related type 1 interferonopathy 1
RNU7-1-related type 1 interferonopathy 1
Cherubism 1
Desmoid tumor 1
Jugulotympanic paraganglioma 1
Multiple symmetric lipomatosis 1
Blau syndrome
CHILD syndrome
EMILIN-1-related connective tissue disease
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ewing sarcoma of bone
LAMA5-related multisystemic syndrome
MASS syndrome
Maffucci syndrome
Ollier disease
Pelger-Huet-like anomaly and episodic fever with abdominal pain
Peyronie disease
STING-associated vasculopathy with onset in infancy
Sharpin-related autoinflammatory syndrome
Spondyloenchondrodysplasia with immune dysregulation
VEXAS syndrome
X-linked reticulate pigmentary disorder
Acquired polycythemia vera
Acroosteolysis dominant type
Aneurysmal bone cyst
Arterial tortuosity syndrome
Arterial tortuosity-bone fragility syndrome
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autoinflammatory disease, X-linked
Autoinflammatory disease, systemic, with vasculitis
Autoinflammatory syndrome with immunodeficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal recessive inherited pseudoxanthoma elasticum
Bone fragility with contractures, arterial rupture, and deafness
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Chondrocalcinosis 2
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Deficiency of adenosine deaminase 2
Diaphyseal medullary stenosis-bone malignancy syndrome
Encephalocraniocutaneous lipomatosis
Familial ossifying fibroma
Hypermobility spectrum disorder
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 3
Hyperparathyroidism 4
Inherited torticollis
Juvenile hyaline fibromatosis
Neonatal severe primary hyperparathyroidism
Ossification of the posterior longitudinal ligament of the spine
Progeroid and marfanoid aspect-lipodystrophy syndrome
Pseudo-TORCH syndrome 2
Psoriasis 14, pustular
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Sweet syndrome
Thrombocytopenia 6

Rare disease

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