Camurati-Engelmann Disease malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Camurati-Engelmann Disease:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Age of onset: All ages
Penetrance: some obligate heterozygotes with an identified tgfb1 variant have had normal radiographs [wallace et al 2004]; an exact penetrance figure is not known...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
ICD10: 30 29
NIH Rare Diseases:47 Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. Last updated: 3/15/2016
MalaCards based summary: Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to camurati engelmann disease, type 2 and dappled diaphyseal dysplasia, and has symptoms including skeletal dysplasia, bone pain and abnormality of the femur. An important gene associated with Camurati-Engelmann Disease is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways are TGF Beta Signaling Pathway and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include long bone, bone and lung.
Disease Ontology:11 An osteosclerosis that has material basis in mutations in the TGFB1 gene which results in increased bone density located in long bone.
UniProtKB/Swiss-Prot:69 Camurati-Engelmann disease: An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.
Genetics Home Reference:25 Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty.
OMIM:51 Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is... (131300) more...
GeneReviews for NBK1156
Human phenotypes related to Camurati-Engelmann Disease:63 53 (show all 71)
UMLS symptoms related to Camurati-Engelmann Disease:waddling gait, pain in lower limb, headache
Drugs for Camurati-Engelmann Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 342)
Interventional clinical trials:(show top 50) (show all 212)
Search NIH Clinical Center for Camurati-Engelmann Disease
MalaCards organs/tissues related to Camurati-Engelmann Disease:35
Bone, Lung, Kidney, Liver, Brain, Skin, T cells
FMA organs/tissues related to Camurati-Engelmann Disease:17
Articles related to Camurati-Engelmann Disease:(show top 50) (show all 65)
UniProtKB/Swiss-Prot genetic disease variations for Camurati-Engelmann Disease:69
Clinvar genetic disease variations for Camurati-Engelmann Disease:5
Search GEO for disease gene expression data for Camurati-Engelmann Disease.
Pathways related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:
Cellular components related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:
Biological processes related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet