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LCPD
MCID: LGG001
MIFTS: 58
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Legg-Calve-Perthes Disease (LCPD)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Legg-Calve-Perthes Disease:
Characteristics:Orphanet epidemiological data:58
legg-calve-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Bone diseases Blood diseases
ICD10:
32
33
Orphanet: 58
Rare systemic and rhumatological diseases
Rare bone diseases External Ids:
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NIH Rare Diseases :
52
Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die. LCPD usually occurs in children between the ages of 4 and 10. Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of hip motion. Later in the disease course, there may be leg length discrepancy (one leg longer than the other) and wasting of the muscles around the hip. The condition can last for several years before new bone formation (re-ossification) and eventual healing occurs. Some people with LCPD go on to develop degenerative arthritis in adulthood. The underlying cause of LCPD is often not known. Sometimes it results from a slipped capital femoral epiphysis , trauma, steroid use, sickle-cell crisis, toxic synovitis , or congenital hip dysplasia . It usually is not caused by genetic factors, but a few familial cases with autosomal dominant inheritance have been reported. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. Treatment aims to keep the thigh bone inside the hip socket. Treatment options may include rest or medication for pain; physical therapy ; using a brace; or surgery.
MalaCards based summary : Legg-Calve-Perthes Disease, also known as perthes disease, is related to osteonecrosis and factor v leiden thrombophilia. An important gene associated with Legg-Calve-Perthes Disease is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Tocopherol and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include hip joint, bone and testes, and related phenotypes are joint dislocation and delayed skeletal maturation Disease Ontology : 12 An osteochondrosis that results in death and fracture located in hip joint. Genetics Home Reference : 25 Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calvé-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age. OMIM : 56 Legg-Calve-Perthes disease is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004). (150600) KEGG : 36 Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. UniProtKB/Swiss-Prot : 73 Legg-Calve-Perthes disease: Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. Wikipedia : 74 Legg-Calve-Perthes disease (LCPD), is a childhood hip disorder initiated by a disruption of blood flow... more... |
Human phenotypes related to Legg-Calve-Perthes Disease:58 31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:150600MGI Mouse Phenotypes related to Legg-Calve-Perthes Disease:45
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Drugs for Legg-Calve-Perthes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:
Cochrane evidence based reviews: legg-calve-perthes disease |
The Foundational Model of Anatomy Ontology organs/tissues related to Legg-Calve-Perthes Disease:19
Hip Joint
MalaCards organs/tissues related to Legg-Calve-Perthes Disease:40
Bone,
Testes,
Heart,
Skeletal Muscle,
Thyroid,
Endothelial,
Bone Marrow
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Articles related to Legg-Calve-Perthes Disease:(show top 50) (show all 2077)
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Genes related to Legg-Calve-Perthes Disease (1 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Legg-Calve-Perthes Disease:6
UniProtKB/Swiss-Prot genetic disease variations for Legg-Calve-Perthes Disease:73
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Search
GEO
for disease gene expression data for Legg-Calve-Perthes Disease.
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Pathways related to Legg-Calve-Perthes Disease according to KEGG:36
Pathways related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:
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Cellular components related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:
Biological processes related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:
Molecular functions related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:
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