Legg-Calve-Perthes Disease (LCPD)

Categories: Blood diseases, Bone diseases, Genetic diseases, Oral diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Legg-Calve-Perthes Disease

MalaCards integrated aliases for Legg-Calve-Perthes Disease:

Name: Legg-Calve-Perthes Disease 57 11 19 58 73 28 5 43 14 38 71
Perthes Disease 57 11 19 42 58 73 53
Coxa Plana 11 19 42 31
Lcpd 57 19 42 73
Juvenile Osteochondrosis of Hip and Pelvis 11 31
Legg-Calvé-Perthes Disease 42 75
Legg-Perthes Disease 57 73
Pseudocoxalgia 11 31
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 11
Osteochondrosis of Legg-Calve-Perthes 11
Juvenile Osteochond-Hip/pelvis 11
Legg-Calve-Perthes Syndrome 19
Legg-Calvé-Perthes Syndrome 75
Legg-Calve-Perthes Symptom 11
Osteochondritis Deformans 19
Calve - Perthes' Disease 11
Calve-Perthes Disease 42
Perthe's Disease 11
Lcp 57



Autosomal dominant,Multigenic/multifactorial 58 , Autosomal dominant vs multifactorial 57

Age Of Onset:

Childhood 58


Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases

External Ids:

Disease Ontology 11 DOID:14415
OMIM® 57 150600
MeSH 43 D007873
NCIt 49 C34766
SNOMED-CT 68 15739006 270545000
ICD10 via Orphanet 32 M91.1
UMLS via Orphanet 72 C0023234
Orphanet 58 ORPHA2380
MedGen 40 C0023234
UMLS 71 C0022441 C0023234 C1442965

Summaries for Legg-Calve-Perthes Disease

MedlinePlus Genetics: 42 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.

MalaCards based summary: Legg-Calve-Perthes Disease, also known as perthes disease, is related to osteonecrosis and synovitis. An important gene associated with Legg-Calve-Perthes Disease is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Defects of contact activation system (CAS) and kallikrein/kinin system (KKS). 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

GARD: 19 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. 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. 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.

OMIM®: 57 Legg-Calve-Perthes disease (LCPD) 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

Disease Ontology: 11 An osteochondrosis that results in death and fracture located in hip joint.

Wikipedia: 75 Legg-Calvé-Perthes disease (LCPD) is a childhood hip disorder initiated by a disruption of blood flow to... 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 382)
# Related Disease Score Top Affiliating Genes
1 osteonecrosis 31.6 SERPINE1 SERPINC1 COL2A1
2 synovitis 30.8 SELE IL6 COL2A1
3 osteochondrosis 30.7 MIR4693 MIR3200 GALNS COL2A1
4 scheuermann disease 30.7 GNPTAB COL2A1
5 proteasome-associated autoinflammatory syndrome 1 30.6 SELP SELE IL6
6 protein c deficiency 30.1 THBD SERPINE1 SERPINC1 F5 APOH
7 protein s deficiency 30.1 THBD SERPINE1 SERPINC1 F5 APOH
8 thrombophilia 29.9 THBD SERPINE1 SERPINC1 SELP F5 CD40LG
9 compartment syndrome 29.9 SERPINC1 IL6
10 collagen disease 29.8 THBD IL6 COL2A1 APOH
11 pulmonary embolism 29.8 THBD SERPINE1 SERPINC1 F5 CD40LG APOH
12 thrombophilia due to thrombin defect 29.8 THBD SERPINE1 SERPINC1 SELP F5 APOH
13 antithrombin iii deficiency 29.8 SERPINC1 F5 APOH
14 kawasaki disease 29.8 SELP SELE CD40LG
15 thrombophlebitis 29.7 SERPINE1 SERPINC1 SELP F5 APOH
16 purpura 29.6 THBD SERPINC1 SELP IL6 APOH
17 thrombophilia due to activated protein c resistance 29.4 THBD SERPINE1 SERPINC1 F5 APOH
18 thrombosis 29.3 THBD SERPINE1 SERPINC1 SELP SELE F5
19 beta-thalassemia 29.2 SERPINC1 IL6 IGFBP3 F5
20 myocardial infarction 28.9 THBD SERPINE1 SERPINC1 SELP SELE IL6
21 cerebral palsy 28.8 THBD SERPINE1 SERPINC1 SELE IL6 IGFBP3
22 osteoporosis 28.7 SERPINE1 SERPINC1 SELE IL6 IGFBP3 COL2A1
23 antiphospholipid syndrome 28.7 THBD SERPINE1 SERPINC1 SELP SELE F5
24 vascular disease 28.4 THBD SERPINE1 SERPINC1 SELP SELE IL6
25 thrombocytopenia 28.4 THBD SERPINE1 SERPINC1 SELP SELE IL6
26 arthrogryposis, perthes disease, and upward gaze palsy 11.6
27 trichorhinophalangeal syndrome, type iii 11.2
28 garret tripp syndrome 11.1
29 familial avascular necrosis of the femoral head 11.1
30 osteomesopyknosis 11.0
31 avascular necrosis 10.9
32 overgrowth syndrome 10.7
33 upington disease 10.6
34 avascular necrosis of femoral head, primary, 1 10.6
35 osteochondritis dissecans 10.6
36 idiopathic avascular necrosis 10.6
37 pseudohypoparathyroidism, type ia 10.4
38 exostoses, multiple, type i 10.4
39 osseous heteroplasia, progressive 10.4
40 thoracoabdominal syndrome 10.4
41 osteoarthritis 10.4
42 epiphysiolysis of the hip 10.4
43 multiple epiphyseal dysplasia 10.3
44 fibrinolytic defect 10.3 SERPINE1 SERPINC1
45 dic in newborn 10.3 SERPINE1 SERPINC1
46 prothrombin deficiency 10.3 SERPINC1 APOH
47 acrodysostosis 1 with or without hormone resistance 10.3
48 developmental dysplasia of the hip 1 10.3
49 enchondromatosis, multiple, ollier type 10.3
50 spondylolisthesis 10.3

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 30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
2 avascular necrosis 58 30 Hallmark (90%) Very frequent (99-80%)
3 abnormality of the dentition 58 30 Hallmark (90%) Very frequent (99-80%)
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
5 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
6 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
7 joint dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
8 cartilage destruction 58 30 Hallmark (90%) Very frequent (99-80%)
9 avascular necrosis of the capital femoral epiphysis 30 HP:0005743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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®:

150600 (Updated 08-Dec-2022)

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

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 APOH CD40LG COL2A1 F5 GALNS GNPTAB
2 nervous system MP:0003631 10.22 CD40LG COL2A1 F5 GNPTAB IGFBP3 IL6
3 renal/urinary system MP:0005367 10.21 CD40LG COL2A1 GALNS GNPTAB IL6 PEPD
4 growth/size/body region MP:0005378 10.2 COL2A1 F5 GNPTAB IGFBP3 IL6 PEPD
5 cardiovascular system MP:0005385 10.18 CD40LG COL2A1 F5 GNPTAB IGFBP3 IL6
6 liver/biliary system MP:0005370 10.15 COL2A1 F5 IGFBP3 IL6 SELE SELP
7 cellular MP:0005384 10.13 CD40LG COL2A1 GALNS GNPTAB IGFBP3 IL6
8 immune system MP:0005387 10.07 CD40LG COL2A1 GNPTAB IL6 PEPD SELE
9 skeleton MP:0005390 9.91 CD40LG COL2A1 GALNS GNPTAB IGFBP3 IL6
10 respiratory system MP:0005388 9.87 COL2A1 GNPTAB IL6 SELE SELP SERPINE1
11 vision/eye MP:0005391 9.81 COL2A1 GALNS GNPTAB IGFBP3 IL6 PEPD
12 mortality/aging MP:0010768 9.73 APOH CD40LG COL2A1 F5 GNPTAB IL6
13 integument MP:0010771 9.32 CD40LG F5 GNPTAB IGFBP3 IL6 PEPD

Drugs & Therapeutics for Legg-Calve-Perthes Disease

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 3
Tocopherol Approved, Investigational 1406-66-2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Tannic acid Approved 1401-55-4 16129878 16129778
Triamcinolone Approved, Vet_approved 124-94-7 31307
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved 59-02-9, 10191-41-0 2116 14985
Tocotrienol Investigational 6829-55-6 9929901
8 Pharmaceutical Solutions
9 Vitamins
10 Tocotrienols
11 Tocopherols
Triamcinolone hexacetonide
Triamcinolone diacetate
Triamcinolone Acetonide 6436
15 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 21)
# 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 Lateral Shelf Acetabuloplasty for Treatment of Older Children With Perthes Disease Unknown status NCT03321422
10 Mesenchymal Stem Cell Transplantation in the Treatment of Osteonecrosis of the Femoral Head Unknown status NCT00813267 Early Phase 1
11 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
12 Study of Modifications of the Composition and Structure in the Aseptic Osteonecrosis of the Femoral Head and Etiopathogenic MRI Correlations Completed NCT02733900
13 The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' Disease Completed NCT02676271
14 Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density Completed NCT02087436
15 The Effect of Perthes' Disease on Hip Cartilage Completed NCT00958464
16 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
17 Treatment of Stage 3 Osteonecrosis of the Femoral Head by Autologous Transplantation of Bone Marrow Cells: a Randomized, Controlled Double Blind Study Completed NCT01544712
18 A Prospective Multi-center Study on E1 Acetabular Liner in THA Active, not recruiting NCT02087449
19 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
20 Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease Enrolling by invitation NCT02040714
21 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 Legg-Calve-Perthes Disease 28 COL2A1

Anatomical Context for Legg-Calve-Perthes Disease

Organs/tissues related to Legg-Calve-Perthes Disease:

FMA: Hip Joint
MalaCards : Bone, Bone Marrow, Skeletal Muscle, Thyroid, Endothelial, Spinal Cord, Spleen

Publications for Legg-Calve-Perthes Disease

Articles related to Legg-Calve-Perthes Disease:

(show top 50) (show all 2403)
# Title Authors PMID Year
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 62 57 5
17394019 2007
Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. 62 57
8047373 1994
The role of venous hypertension in the pathogenesis of Legg-Perthes disease. A clinical and experimental study. 62 57
1993714 1991
Genetic aspects of Perthes' disease. A critical review. 62 57
3731583 1986
Genetic risks in Perthes' disease. 62 57
963906 1976
Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination. 62 57
5046630 1972
The early roentgenographic changes in essential coxa plana: their significance in pathogenesis. 62 57
5659978 1968
Hereditary Legg-Calve-Perthes disease. 62 57
13998760 1963
Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review. 62 57
13899540 1962
Hereditary Legg-Calve-Perthes' disease. 62 57
20988421 1946
Type II collagen gene variants and inherited osteonecrosis of the femoral head. 5
15930420 2005
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. 57
15179599 2004
Non-traumatic avascular necrosis of the femoral head. 57
7890797 1995
Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. 53 62
18978274 2008
Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred. 53 62
17878795 2007
Legg-perthes disease and heritable thrombophilia. 53 62
15958894 2005
Legg-Calve-Perthes disease and thrombophilia. 53 62
15590848 2004
The most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation. 53 62
15125132 2004
[Congenital disorders of hemostasis in children with Perthes disease]. 53 62
15587376 2004
Thrombotic and fibrinolytic alterations in the aseptic necrosis of femoral head. 53 62
12695746 2003
Prospective reevaluation of the association between thrombotic diathesis and legg-perthes disease. 53 62
12208918 2002
The role of protein C, protein S, and resistance to activated protein C in Legg-Perthes disease. 53 62
11389252 2001
[Incidence of thrombophilic factor V Leiden and prothrombin G20210A mutation in Perthes disease--a pilot study]. 53 62
11386104 2001
Incidence of thrombophilia in patients with Gaucher disease. 53 62
11146461 2000
The role of coagulation abnormalities in the development of Perthes' disease. 53 62
10963178 2000
Absence of congenital prethrombotic disorders in children with Legg-Perthes disease. 53 62
10647105 2000
Factor V Leiden and other hypercoagulable state mutations are not associated with osteonecrosis during or after treatment for pediatric malignancy. 53 62
10064667 1999
The role of inherited thrombotic disorders in the etiology of Legg-Calvé-Perthes disease. 53 62
9890293 1999
Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation. 53 62
9602208 1998
Decreased levels of IGF binding protein-3 in serum from children with Perthes' disease. 53 62
9602767 1998
Resistance to activated protein C and Legg-Perthes disease. 53 62
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). 53 62
8962421 1996
Normal plasma levels of IGF binding protein in Perthes' disease. Follow-up of previous report. 53 62
7694440 1993
Predictors of radiographic outcomes of conservative and surgical treatment of Legg-Calvé-Perthes disease. 62
36173477 2022
How are adults who had Perthes' disease functioning? : results of over 900 participants from an international web-based survey. 62
36453046 2022
CORR Insights®: Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease? 62
36455098 2022
Long-term clinical and radiological outcome in patients with severe Legg-Calvé-Perthes disease after Chiari pelvic osteotomy: a mean of 14 years follow-up. 62
33566697 2022
Physical disability in Late Antiquity Milan: slipped capital femoral epiphysis with severe secondary joint disease in the Basilica of San Dionigi. 62
36218258 2022
A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic). 62
36455429 2022
Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease? 62
36374570 2022
Perthes disease: comparison of two surgical options. 62
36445350 2022
Quality of YouTube videos for three common pediatric hip conditions: developmental hip dysplasia, slipped capital femoral epiphysis and Legg-Calve-Perthes disease. 62
35357371 2022
[Triple osteotomy for patients with Legg-Calve-Perthes disease]. 62
36112163 2022
Surgical hip dislocation with relative femoral neck lengthening and retinacular soft-tissue flap for sequela of Legg-Calve-Perthes disease. 62
35930024 2022
[Proximal femoral varus osteotomy in Legg-Calve-Perthes disease]. 62
35915149 2022
[Femoral head reduction osteotomy to improve femoroacetabular containment in Legg-Calve-Perthes disease]. 62
35861865 2022
Simultaneous femoral head reduction osteotomy (FHRO) combined with periacetabular osteotomy (PAO) for the treatment of severe femoral head asphericity in Perthes disease. 62
36266667 2022
Cementless Total Hip Arthroplasty in Patients with Osteoarthrosis Secondary to Legg-Calvé-Perthes Disease Compared with Primary Osteoarthrosis: A Case-control Study. 62
36226203 2022
Pediatric Hip Disease Increases the Risk for Opioid Use in Adulthood: Long-term Burden of Pain and Depression. 62
36288602 2022
Development of acetabular retroversion in LCPD hips-an observational radiographic study from early stage to healing. 62
36274080 2022

Variations for Legg-Calve-Perthes Disease

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

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) SNV Pathogenic
17393 rs121912891 GRCh37: 12:48369835-48369835
GRCh38: 12:47976052-47976052
2 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic
195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
3 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic
17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
4 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic
17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
5 GNPTAB NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) SNV Likely Pathogenic
39035 rs281864980 GRCh37: 12:102159967-102159967
GRCh38: 12:101766189-101766189
6 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain Significance
547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
7 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain Significance
308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437
8 COL2A1 NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) SNV Not Provided
288221 rs886043832 GRCh37: 12:48373833-48373833
GRCh38: 12:47980050-47980050

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
4 11.64 SELP IL6 COL2A1
6 11.48 IL6 IGFBP3 COL2A1
Show member pathways
10.93 SELE IL6 CD40LG

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 space GO:0005615 9.66 THBD SERPINE1 SERPINC1 SELP SELE IL6
2 endoplasmic reticulum lumen GO:0005788 9.65 SERPINC1 IL6 IGFBP3 F5 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of leukocyte tethering or rolling GO:1903238 9.71 SELP SELE
2 negative regulation of smooth muscle cell migration GO:0014912 9.67 SERPINE1 IGFBP3
3 leukocyte cell-cell adhesion GO:0007159 9.63 SELP SELE CD40LG
4 hemostasis GO:0007599 9.43 THBD SERPINC1 F5
5 negative regulation of blood coagulation GO:0030195 9.43 THBD SERPINE1 APOH
6 regulation of blood coagulation GO:0030193 9.32 SERPINC1 APOH
7 negative regulation of fibrinolysis GO:0051918 9.1 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 oligosaccharide binding GO:0070492 8.92 SELP SELE

Sources for Legg-Calve-Perthes Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....