Camurati-Engelmann Disease (CAEND)

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Disease Ontology 12 DOID:4997 OMIM 56 131300 KEGG 36 H00434 MeSH 43 D003966 NCIt 49 C84610 SNOMED-CT 67 34643004 ICD10 32 Q78.3

MESH via Orphanet 44 D003966 ICD10 via Orphanet 33 Q78.3 UMLS via Orphanet 72 C0011989 Orphanet 58 ORPHA1328 MedGen 41 C0011989 C2931842 SNOMED-CT via HPO 68 103276001 10601006 109504005 111266001 123526007 12584003 130951007 13814009 15188001 16294009 165397008 165468009 18265008 193093009 203514008 203534009 22810007 233873004 238108007 23986001 248200007 248268002 248316006 249710008 24982008 25064002 263681008 26544005 267064002 271706000 271737000 27837003 285384003 299236004 299330008 318761000119105 32003007 343087000 398206004 398302004 400003000 414564002 449491000124101 45227007 48130008 53226007 5639000 61960001 64217002 64379006 72983001 74035001 76976005 79890006 80515008 80967001 84828003 85102008 90145001 90834002 95662005 95666008 95828007 more UMLS 71 C0011989 C2931842

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

Clinical features from OMIM:

131300

Search Clinical Trials , NIH Clinical Center for Camurati-Engelmann Disease

Search GEO for disease gene expression data for Camurati-Engelmann Disease.