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MCID: LGG001
MIFTS: 58
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Legg-Calve-Perthes Disease
Categories:
Genetic diseases, Rare diseases, Bone diseases
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MalaCards integrated aliases for Legg-Calve-Perthes Disease:
Characteristics:Orphanet epidemiological data:59
legg-calvé-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy; Classifications:
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
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 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 Triamcinolone and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include hip joint, bone and skeletal muscle, and related phenotypes are abnormality of the dentition and joint dislocation OMIM : 57 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) UniProtKB/Swiss-Prot : 75 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. Disease Ontology : 12 An osteochondrosis that results in death and fracture located in hip joint. Wikipedia : 76 Legg–Calvé–Perthes disease (LCPD, also known as Perthes disease or Legg–Perthes disease) is a childhood... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:150600Human phenotypes related to Legg-Calve-Perthes Disease:59 32 (show all 9)
GenomeRNAi Phenotypes related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Legg-Calve-Perthes Disease:46 (show all 11)
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Drugs for Legg-Calve-Perthes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
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:41
Bone,
Skeletal Muscle
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Articles related to Legg-Calve-Perthes Disease:(show top 50) (show all 106)
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Genes related to Legg-Calve-Perthes Disease (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Legg-Calve-Perthes Disease:75
ClinVar genetic disease variations for Legg-Calve-Perthes Disease:6
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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:37
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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