Legg-Calve-Perthes Disease (LCPD)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Legg-Calve-Perthes Disease

MalaCards integrated aliases for Legg-Calve-Perthes Disease:

Name: Legg-Calve-Perthes Disease 56 12 52 58 73 36 13 43 15 39 71
Perthes Disease 56 12 52 25 58 73 54
Coxa Plana 12 52 25 29 6 32
Lcpd 56 52 25 73
Juvenile Osteochondrosis of Hip and Pelvis 12 32
Legg-Perthes Disease 56 73
Pseudocoxalgia 12 32
Avascular Necrosis of the Capital Femoral Epiphysis 71
Aseptic Necrosis of the Capital Femoral Epiphysis 58
Osteochondrosis of the Capital Femoral Epiphysis 58
Juvenile Osteochondrosis of Hip and/or Pelvis 12
Osteochondrosis of Legg-Calve-Perthes 12
Juvenile Osteochond-Hip/pelvis 12
Legg-Calvé-Perthes Syndrome 74
Legg-Calve-Perthes Syndrome 52
Legg-Calve-Perthes Symptom 12
Legg-Calvé-Perthes Disease 25
Osteochondritis Deformans 52
Calve - Perthes' Disease 12
Calve-Perthes Disease 25
Perthe's Disease 12
Lcp 56


Orphanet epidemiological data:

legg-calve-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy;


autosomal dominant vs. multifactorial


legg-calve-perthes disease:
Inheritance autosomal dominant inheritance multifactorial inheritance


Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases

External Ids:

Disease Ontology 12 DOID:14415
OMIM 56 150600
KEGG 36 H01526
MeSH 43 D007873
NCIt 49 C34766
SNOMED-CT 67 240241003
ICD10 via Orphanet 33 M91.1
UMLS via Orphanet 72 C0023234
Orphanet 58 ORPHA2380
MedGen 41 C0023234
UMLS 71 C0022441 C0023234 C1442965

Summaries for Legg-Calve-Perthes Disease

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 osteochondrosis. 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 Anesthetics and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include hip joint, bone and bone marrow, and related phenotypes are delayed skeletal maturation and avascular necrosis

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-Calvé-Perthes disease (LCPD), is a childhood hip disorder initiated by a disruption of blood flow... more...

Related Diseases for Legg-Calve-Perthes Disease

Diseases related to Legg-Calve-Perthes Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 339)
# Related Disease Score Top Affiliating Genes
1 osteonecrosis 31.8 SERPINE1 SERPINC1 COL2A1
2 osteochondrosis 30.6 GALNS COL9A1 COL2A1
3 osteochondritis dissecans 30.4 MATN3 COL9A1 COL2A1
4 protein s deficiency 30.3 THBD SERPINE1 SERPINC1 F5 APOH
5 skeletal dysplasias 30.3 MATN3 COL2A1
6 protein c deficiency 30.3 THBD SERPINE1 SERPINC1 F5 APOH
7 thrombophilia due to thrombin defect 30.3 THBD SERPINE1 SERPINC1 F5 APOH
8 pulmonary embolism 30.0 THBD SERPINE1 SERPINC1 F5 CD40LG APOH
9 thrombophilia 29.9 THBD SERPINE1 SERPINC1 SELP F5 CD40LG
10 cerebral palsy 29.9 SERPINE1 SERPINC1 SELE IGFBP3 F5
11 purpura 29.9 THBD SERPINC1 CD40LG APOH
12 collagen disease 29.8 THBD COL2A1 CD40LG APOH
13 thrombophlebitis 29.7 SERPINE1 SERPINC1 SELP F5 CD40LG APOH
14 vasculitis 29.6 THBD SELP SELE CD40LG APOH
15 multiple epiphyseal dysplasia, autosomal dominant 29.6 MATN3 COL9A1
16 multiple epiphyseal dysplasia 29.5 SLC26A2 MATN3 COL9A1 COL2A1
17 thrombosis 29.2 THBD SERPINE1 SERPINC1 SELP SELE F5
18 spondyloepiphyseal dysplasia with congenital joint dislocations 29.1 SLC26A2 GALNS COL9A1 COL2A1
19 pseudoachondroplasia 28.9 SLC26A2 MATN3 COL9A1 COL2A1
20 osteoporosis 28.8 SLC26A2 SERPINE1 SERPINC1 SELE IGFBP3 COL2A1
21 vascular disease 28.7 THBD SERPINE1 SERPINC1 SELP SELE F5
22 thrombocytopenia 28.7 THBD SERPINE1 SERPINC1 SELP SELE F5
23 spondyloepiphyseal dysplasia congenita 28.7 MATN3 GALNS COL9A1 COL2A1
24 antiphospholipid syndrome 28.4 THBD SERPINE1 SERPINC1 SELP SELE F5
25 arthrogryposis, perthes disease, and upward gaze palsy 12.8
26 avascular necrosis of femoral head, primary, 1 11.8
27 familial avascular necrosis of the femoral head 11.8
28 trichorhinophalangeal syndrome, type iii 11.5
29 garret tripp syndrome 11.3
30 osteomesopyknosis 11.2
31 avascular necrosis 11.0
32 upington disease 10.9
33 idiopathic avascular necrosis 10.8
34 overgrowth syndrome 10.7
35 bone resorption disease 10.5
36 plica syndrome 10.5
37 synovitis 10.5
38 fibrinolytic defect 10.5 SERPINE1 SERPINC1
39 prothrombin deficiency 10.5 SERPINC1 APOH
40 dic in newborn 10.5 SERPINE1 SERPINC1
41 heparin-induced thrombocytopenia 10.4 SERPINC1 CD40LG
42 fournier gangrene 10.4 SERPINC1 CD40LG
43 puerperal pulmonary embolism 10.4 SERPINC1 APOH
44 hepatic infarction 10.4 SERPINC1 APOH
45 argentine hemorrhagic fever 10.4 SERPINE1 SERPINC1
46 platelet aggregation, spontaneous 10.4 SERPINC1 SELP
47 amaurosis fugax 10.4 SERPINE1 F5
48 raynaud phenomenon 10.4 THBD APOH
49 mastoiditis 10.4 SERPINC1 CD40LG
50 heterophyiasis 10.4 SELE CD40LG

Graphical network of the top 20 diseases related to Legg-Calve-Perthes Disease:

Diseases related to Legg-Calve-Perthes Disease

Symptoms & Phenotypes for Legg-Calve-Perthes Disease

Human phenotypes related to Legg-Calve-Perthes Disease:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
3 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
7 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
8 cartilage destruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0100773
9 avascular necrosis of the capital femoral epiphysis 31 HP:0005743

Symptoms via clinical synopsis from OMIM:

short stature

painful limp

onset 6-9 years
more severe in females

delayed bone age
necrosis of capital femoral epiphysis

legg-calve-perthes disease

Clinical features from OMIM:


MGI Mouse Phenotypes related to Legg-Calve-Perthes Disease:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 APOH CD40LG COL2A1 COL9A1 F5 GALNS
2 growth/size/body region MP:0005378 10.22 COL2A1 F5 IGFBP3 MATN3 PEPD SELE
3 cardiovascular system MP:0005385 10.21 CD40LG COL2A1 F5 IGFBP3 PEPD SELE
4 cellular MP:0005384 10.19 CD40LG COL2A1 COL9A1 GALNS IGFBP3 MATN3
5 immune system MP:0005387 10.17 CD40LG COL2A1 COL9A1 MATN3 PEPD SELE
6 integument MP:0010771 10.06 CD40LG F5 IGFBP3 PEPD SELE SELP
7 mortality/aging MP:0010768 10.03 APOH CD40LG COL2A1 F5 PEPD SELE
8 liver/biliary system MP:0005370 9.92 COL2A1 F5 IGFBP3 SELE SELP SERPINC1
9 limbs/digits/tail MP:0005371 9.85 COL2A1 COL9A1 IGFBP3 MATN3 PEPD SLC26A2
10 renal/urinary system MP:0005367 9.81 CD40LG COL2A1 GALNS PEPD SELP SERPINC1
11 skeleton MP:0005390 9.65 CD40LG COL2A1 COL9A1 GALNS IGFBP3 MATN3
12 vision/eye MP:0005391 9.23 COL2A1 COL9A1 GALNS IGFBP3 PEPD SELE

Drugs & Therapeutics for Legg-Calve-Perthes Disease

Drugs for Legg-Calve-Perthes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 3
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
Triamcinolone Approved, Vet_approved 124-94-7 31307
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
5 Tocotrienol Investigational 6829-55-6
6 Pharmaceutical Solutions
7 Vitamins
8 Tocotrienols
9 Tocopherols
10 Anti-Inflammatory Agents
11 Triamcinolone diacetate
12 triamcinolone acetonide
13 Triamcinolone hexacetonide

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Combined Treatment of Early and Advanced Osteonecrosis of the Femoral Head With Core Decompression and Grafting With Demineralized Bone Matrix (DBM) or Homologous Lyophilized Bone Chips (LBC) Together With Platelet-rich-fibrin (PRF) and Concentrated Bone Marrow (CBM) Unknown status NCT01892514 Phase 3
2 Multi-center Clinical Trial of the Application of Ixmyelocel-T in the Treatment of Osteonecrosis of the Femoral Head Completed NCT00505219 Phase 3
3 A Multi-centre, Randomised, Parallel Group, Controlled Study to Compare the Performance of the Future Hip Against Three Currently Used Implants in Total Hip Replacement Terminated NCT00208468 Phase 3
4 Phase 3, Pivotal, Multicentre, Randomised, Double-blind Controlled Study to Evaluate the Efficacy and Safety of Autologous Osteoblastic Cells (PREOB®) Implantation in Early Stage Non Traumatic Osteonecrosis of the Femoral Head Terminated NCT01529008 Phase 3 Core decompression/PREOB® implantation;Core decompression/placebo implantation
5 PHASE II CLINICAL TRIAL Prospective, Open, Nonrandomized Treatment of Osteonecrosis of the Femoral Head by the Administration of Autologous Mesenchymal Stem Cells Completed NCT01700920 Phase 2
6 A Pilot Clinical Trial of "ex Vivo" Expanded Autologous Bone Marrow Mesenchymal Stem Cells Fixed in Allogenic Human Bone Tissue (XCEL-MT-OSTEO- ALPHA) in Osteonecrosis of the Femoral Head Completed NCT01605383 Phase 1, Phase 2
7 Treatment of Osteonecrosis of the Femoral Head by Implantation of Preosteoblastic Cells: a Randomized, Controlled, Single Blind Pilot Study Completed NCT02890537 Phase 2 Core decompression/PREOB® implantation;Core decompression/BMC implantation
8 Treatment of Osteonecrosis of the Femoral Head With Implantation of Autologous Bone Marrow Cells, a Pilot Study Completed NCT00821470 Phase 1
9 Mesenchymal Stem Cell Transplantation in the Treatment of Osteonecrosis of the Femoral Head Unknown status NCT00813267 Early Phase 1
10 Validation and Reliability Testing of the Western Ontario and McMaster Osteoarthritis Scale (WOMAC) Hip Score in Children and Adolescents With Perthes Disease Unknown status NCT02795494
11 The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' Disease Completed NCT02676271
12 Comparison of the Inner Side and Two-sided Approaches for Iliac Crest Bone Graft Harvesting for Pediatric Pelvic Osteotomy Completed NCT04425369
13 Predictive Factors for the Development of Osteonecrosis After the Treatment of the Developmental Dislocated Hip. A Comparison of Early Open Reduction Versus Late Open Reduction With Combined Pemberton and Femoral Osteotomies Completed NCT01133938
14 Treatment of Stage 3 Osteonecrosis of the Femoral Head by Autologous Transplantation of Bone Marrow Cells: a Randomized, Controlled Double Blind Study Completed NCT01544712
15 Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density Completed NCT02087436
16 The Effect of Perthes' Disease on Hip Cartilage Completed NCT00958464
17 Lateral Shelf Acetabuloplasty for Treatment of Older Children With Perthes Disease Recruiting NCT03321422
18 Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease Recruiting NCT02040714
19 Study of Modifications of the Composition and Structure in the Aseptic Osteonecrosis of the Femoral Head and Etiopathogenic MRI Correlations Active, not recruiting NCT02733900
20 A Prospective Multi-center Study on E1 Acetabular Liner in THA Active, not recruiting NCT02087449
21 A Prospective Nationwide Study of Perthes` Disease in Norway: Functional and Radiographic Outcomes at a Mean Follow-up of Twenty Years Enrolling by invitation NCT03885960
22 Prospective Randomized Controlled Study Utilizing the Stryker Hip-Check Software Platform Not yet recruiting NCT04265222
23 Intraarticular Corticosteroid Therapy in Legg-Calve Perthes Disease: a Randomized Controlled Clinical Trial. Terminated NCT01026909 Aristospan 20mg

Search NIH Clinical Center for Legg-Calve-Perthes Disease

Cochrane evidence based reviews: legg-calve-perthes disease

Genetic Tests for Legg-Calve-Perthes Disease

Genetic tests related to Legg-Calve-Perthes Disease:

# Genetic test Affiliating Genes
1 Coxa Plana 29 COL2A1

Anatomical Context for Legg-Calve-Perthes Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Legg-Calve-Perthes Disease:

Hip Joint

MalaCards organs/tissues related to Legg-Calve-Perthes Disease:

Bone, Bone Marrow, Testes, Skeletal Muscle, Thyroid, Endothelial, Skin

Publications for Legg-Calve-Perthes Disease

Articles related to Legg-Calve-Perthes Disease:

(show top 50) (show all 2096)
# Title Authors PMID Year
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 56 6 61
17394019 2007
Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. 61 56
8047373 1994
The role of venous hypertension in the pathogenesis of Legg-Perthes disease. A clinical and experimental study. 56 61
1993714 1991
Genetic risks in Perthes' disease. 61 56
963906 1976
Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination. 56 61
5046630 1972
Hereditary Legg-Calve-Perthes disease. 56 61
13998760 1963
Hereditary Legg-Calve-Perthes' disease. 56 61
20988421 1946
Legg-Calve-Perthes disease in two generations of male family members: a case report. 52 61
24014797 2013
Type II collagen gene variants and inherited osteonecrosis of the femoral head. 6
15930420 2005
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. 56
15179599 2004
Non-traumatic avascular necrosis of the femoral head. 56
7890797 1995
The early roentgenographic changes in essential coxa plana: their significance in pathogenesis. 56
5659978 1968
Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review. 56
13899540 1962
Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. 61 54
18978274 2008
Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred. 61 54
17878795 2007
Legg-perthes disease and heritable thrombophilia. 61 54
15958894 2005
Legg-Calve-Perthes disease and thrombophilia. 61 54
15590848 2004
The most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation. 61 54
15125132 2004
[Congenital disorders of hemostasis in children with Perthes disease]. 61 54
15587376 2004
Thrombotic and fibrinolytic alterations in the aseptic necrosis of femoral head. 54 61
12695746 2003
Prospective reevaluation of the association between thrombotic diathesis and legg-perthes disease. 54 61
12208918 2002
The role of protein C, protein S, and resistance to activated protein C in Legg-Perthes disease. 54 61
11389252 2001
[Incidence of thrombophilic factor V Leiden and prothrombin G20210A mutation in Perthes disease--a pilot study]. 54 61
11386104 2001
Incidence of thrombophilia in patients with Gaucher disease. 54 61
11146461 2000
The role of coagulation abnormalities in the development of Perthes' disease. 61 54
10963178 2000
Absence of congenital prethrombotic disorders in children with Legg-Perthes disease. 61 54
10647105 2000
Factor V Leiden and other hypercoagulable state mutations are not associated with osteonecrosis during or after treatment for pediatric malignancy. 54 61
10064667 1999
The role of inherited thrombotic disorders in the etiology of Legg-Calvé-Perthes disease. 54 61
9890293 1999
Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation. 61 54
9602208 1998
Decreased levels of IGF binding protein-3 in serum from children with Perthes' disease. 61 54
9602767 1998
Resistance to activated protein C and Legg-Perthes disease. 61 54
9170375 1997
Skeletal immaturity, IGF-I and IGFBP-3 serum concentrations in Legg-Calvé-Perthes disease (skeletal immaturity, IGF-I and IGFBP-3 in LCPD). 61 54
8962421 1996
Normal plasma levels of IGF binding protein in Perthes' disease. Follow-up of previous report. 61 54
7694440 1993
Viewing arthrography images affects treatment preferences for Legg-Calvé-Perthes disease among medical professionals. 61
32255988 2020
Femoral osteotomy to improve range of motion in residual deformity of perthes disease: A case report. 61
32435473 2020
The Effect of Clinical Knowledge and Surgical Experience on Treatment Choice in Legg-Calve-Perthes Disease: Intra-observer and Inter-observer Reliability Study. 61
32549963 2020
Ellipsoidal process of the femoral head in Legg-Calvé-Perthes disease. Part I. 61
32496746 2020
Development of a novel minimally invasive technique to washout necrotic bone marrow content from epiphyseal bone: A preliminary cadaveric bone study. 61
32146150 2020
The outcomes of Perthes' disease. 61
32349599 2020
Validation of Pediatric Self-Report Patient-Reported Outcomes Measurement Information System (PROMIS) Measures in Different Stages of Legg-Calvé-Perthes Disease. 61
31318732 2020
Does Early Proximal Femoral Varus Osteotomy Shorten the Duration of Fragmentation in Perthes Disease? Lessons From a Prospective Multicenter Cohort. 61
31524767 2020
A Comparison of Transphyseal Neck-Head Tunneling and Multiple Epiphyseal Drilling on Femoral Head Healing Following Ischemic Osteonecrosis: An Experimental Investigation in Immature Pigs. 61
32132446 2020
Semantic segmentation of the multiform proximal femur and femoral head bones with the deep convolutional neural networks in low quality MRI sections acquired in different MRI protocols. 61
32240933 2020
Response to 'Surgical and nonsurgical containment methods for patients with Legg-Calvé-Perthes disease of the onset ages between 6.0 and 8.0 years provided similar congruency of the hip joint' submitted to Letter to the Editor. 61
32301827 2020
Functional Outcomes of Hip Arthroscopy for Pediatric and Adolescent Hip Disorders. 61
32117544 2020
Global differences in the treatment of Legg-Calvé-Perthes disease: a comprehensive review. 61
32172318 2020
Open Reduction and Internal Fixation for the Treatment of Symptomatic Osteochondritis Dissecans of the Femoral Head in Patients With Sequelae of Legg-Calvé-Perthes Disease. 61
32028473 2020
Risk factors during pregnancy and delivery for the development of Perthes' disease, a nationwide Swedish study of 2.1 million individuals. 61
32228493 2020
Influence of passive smoking on the onset of Legg-Calvè-Perthes disease: a systematic review and meta-analysis. 61
32141957 2020
Pediatric Hip and Pelvis. 61
31779829 2020

Variations for Legg-Calve-Perthes Disease

ClinVar genetic disease variations for Legg-Calve-Perthes Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
2 COL2A1 NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)SNV Pathogenic 17393 rs121912891 12:48369835-48369835 12:47976052-47976052
3 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
4 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
5 46;XY;t(8;9)(q13;p22)dnTranslocation Pathogenic 267809
6 GNPTAB NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)SNV Likely pathogenic 39035 rs281864980 12:102159967-102159967 12:101766189-101766189
7 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)SNV Conflicting interpretations of pathogenicity 308931 rs142770543 12:48388220-48388220 12:47994437-47994437
8 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561

UniProtKB/Swiss-Prot genetic disease variations for Legg-Calve-Perthes Disease:

# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly1170Ser VAR_023933 rs121912891

Expression for Legg-Calve-Perthes Disease

Search GEO for disease gene expression data for Legg-Calve-Perthes Disease.

Pathways for Legg-Calve-Perthes Disease

Pathways related to Legg-Calve-Perthes Disease according to KEGG:

# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

GO Terms for Legg-Calve-Perthes Disease

Cellular components related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 SERPINE1 SERPINC1 MATN3 IGFBP3 GALNS F5
2 collagen-containing extracellular matrix GO:0062023 9.63 SERPINE1 SERPINC1 MATN3 COL9A1 COL2A1 APOH
3 endoplasmic reticulum lumen GO:0005788 9.43 SERPINC1 MATN3 IGFBP3 F5 COL9A1 COL2A1
4 extracellular space GO:0005615 9.4 THBD SERPINE1 SERPINC1 SELP SELE MATN3

Biological processes related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.81 SERPINC1 MATN3 IGFBP3 F5
2 extracellular matrix organization GO:0030198 9.73 SERPINE1 MATN3 COL9A1 COL2A1
3 skeletal system development GO:0001501 9.71 TRPS1 MATN3 COL2A1
4 cellular protein metabolic process GO:0044267 9.67 SERPINC1 MATN3 IGFBP3 F5
5 platelet degranulation GO:0002576 9.56 SERPINE1 SELP F5 APOH
6 leukocyte tethering or rolling GO:0050901 9.52 SELP SELE
7 hemostasis GO:0007599 9.5 THBD SERPINC1 F5
8 positive regulation of blood coagulation GO:0030194 9.49 SERPINE1 APOH
9 regulation of blood coagulation GO:0030193 9.48 SERPINC1 APOH
10 negative regulation of smooth muscle cell migration GO:0014912 9.46 SERPINE1 IGFBP3
11 positive regulation of leukocyte tethering or rolling GO:1903238 9.4 SELP SELE
12 leukocyte cell-cell adhesion GO:0007159 9.33 SELP SELE CD40LG
13 negative regulation of blood coagulation GO:0030195 9.13 THBD SERPINE1 APOH
14 negative regulation of fibrinolysis GO:0051918 8.8 THBD SERPINE1 APOH

Molecular functions related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sialic acid binding GO:0033691 9.16 SELP SELE
2 extracellular matrix structural constituent GO:0005201 9.13 MATN3 COL9A1 COL2A1
3 oligosaccharide binding GO:0070492 8.62 SELP SELE

Sources for Legg-Calve-Perthes Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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