CAEND
MCID: CMR001
MIFTS: 59
|
Camurati-Engelmann Disease (CAEND)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Camurati-Engelmann Disease:
Characteristics:Orphanet epidemiological data:58
camurati-engelmann disease
Inheritance: Autosomal dominant; Age of onset: All ages; HPO:31
camurati-engelmann disease:
Inheritance autosomal dominant inheritance Onset and clinical course juvenile onset GeneReviews:24
Penetrance Some obligate heterozygotes with an identified tgfb1 pathogenic variant have had normal radiographs [wallace et al 2004]; an exact penetrance figure is not known.
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
33
Orphanet: 58
![]() ![]() External Ids:
|
Genetics Home Reference :
25
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. Bone pain ranges from mild to severe and can increase with stress, activity, or cold weather. Leg weakness can make it difficult to stand up from a seated position and some affected individuals develop a waddling or unsteady walk. Additional limb abnormalities include joint deformities (contractures), knock knees, and flat feet (pes planus). Swelling and redness (erythema) of the limbs and an abnormal curvature of the spine can also occur.
Individuals with Camurati-Engelmann disease may have an unusually thick skull, which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal bossing), and bulging eyes with shallow eye sockets (ocular proptosis). These changes to the head and face become more prominent with age and are most noticeable in affected adults. In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis.
The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms.
Other, rare features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, delayed teething (dentition), frequent cavities, delayed puberty, a shortage of red blood cells (anemia), an enlarged liver and spleen (hepatosplenomegaly), thinning of the skin, and excessively sweaty (hyperhidrotic) hands and feet.
MalaCards based summary : Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to hyperostosis and endosteal hyperostosis, autosomal dominant, and has symptoms including waddling gait, headache and pain in lower limb. An important gene associated with Camurati-Engelmann Disease is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are TGF-beta signaling pathway and PAK Pathway. Affiliated tissues include long bone, bone and eye, and related phenotypes are abnormality of the ulna and cachexia Disease Ontology : 12 An osteosclerosis that has material basis in mutations in the TGFB1 gene which results in increased bone density located in long bone. NIH Rare Diseases : 52 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 that symptoms begin varies greatly, but most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance is autosomal dominant . In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms. In others, symptoms are present, but a gene mutation cannot be found. These cases are referred to as Camurati-Engelmann disease type 2. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. Treatment options to control symptoms may include corticosteroid therapy, losartan as an adjuvant therapy to minimize the need for steroids, pain medications, and craniectomy to reduce intracranial pressure and headaches. OMIM : 56 Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by Janssens et al., 2006). (131300) KEGG : 36 Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and leads to increased proliferation of osteoblasts in CED. UniProtKB/Swiss-Prot : 73 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. Wikipedia : 74 Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes... more...
GeneReviews:
NBK1156
|
Human phenotypes related to Camurati-Engelmann Disease:58 31 (show top 50) (show all 66)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:131300UMLS symptoms related to Camurati-Engelmann Disease:waddling gait, headache, pain in lower limb MGI Mouse Phenotypes related to Camurati-Engelmann Disease:45
|
Cochrane evidence based reviews: camurati-engelmann syndrome |
The Foundational Model of Anatomy Ontology organs/tissues related to Camurati-Engelmann Disease:19
Long Bone
MalaCards organs/tissues related to Camurati-Engelmann Disease:40
Bone,
Eye,
Spleen,
Brain,
Spinal Cord,
Liver,
Skin
|
Articles related to Camurati-Engelmann Disease:(show top 50) (show all 230)
|
ClinVar genetic disease variations for Camurati-Engelmann Disease:6 (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Camurati-Engelmann Disease:73
|
Search
GEO
for disease gene expression data for Camurati-Engelmann Disease.
|
Pathways related to Camurati-Engelmann Disease according to KEGG:36
Pathways related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:(show all 35)
|
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 42)
Molecular functions related to Camurati-Engelmann Disease according to GeneCards Suite gene sharing:
|
|