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LCPD
MCID: LGG001
MIFTS: 62
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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:60
legg-calvé-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy; HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Bone diseases Blood diseases
ICD10:
34
35
External Ids:
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NIH Rare Diseases
:
54
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 bone, skeletal muscle and thyroid, 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 : 26 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. OMIM : 58 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 : 76 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 : 77 Legg–Calvé–Perthes disease (LCPD, also known as Perthes disease or Legg–Perthes disease) is a childhood... more... |
Human phenotypes related to Legg-Calve-Perthes Disease:60 33 (show all 10)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:150600GenomeRNAi Phenotypes related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:27
MGI Mouse Phenotypes related to Legg-Calve-Perthes Disease:47 (show all 12)
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Drugs for Legg-Calve-Perthes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 17)
Interventional clinical trials:(show all 11)
Cochrane evidence based reviews: legg-calve-perthes disease |
MalaCards organs/tissues related to Legg-Calve-Perthes Disease:42
Bone,
Skeletal Muscle,
Thyroid,
Endothelial,
Skin,
Spleen,
Bone Marrow
The Foundational Model of Anatomy Ontology organs/tissues related to Legg-Calve-Perthes Disease:20
Hip Joint
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Articles related to Legg-Calve-Perthes Disease:(show top 50) (show all 1168)
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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:76
ClinVar genetic disease variations for Legg-Calve-Perthes Disease:6 (show all 15)
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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:38
Pathways related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:(show all 12)
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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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