LCPD
MCID: LGG001
MIFTS: 62

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 58 12 54 76 38 13 45 15 41 74
Perthes Disease 58 12 54 26 60 76 56
Coxa Plana 12 54 26 30 6
Lcpd 58 54 26 76
Legg-Calvé-Perthes Disease 26 60
Legg-Perthes Disease 58 76
Avascular Necrosis of the Capital Femoral Epiphysis 74
Aseptic Necrosis of the Capital Femoral Epiphysis 60
Osteochondritis of the Capital Femoral Epiphysis 60
Osteochondrosis of the Capital Femoral Epiphysis 60
Juvenile Osteochondrosis of Hip and/or Pelvis 12
Juvenile Osteochondrosis of Hip and Pelvis 12
Osteochondrosis of Legg-Calve-Perthes 12
Juvenile Osteochond-Hip/pelvis 12
Legg-Calvé-Perthes Syndrome 77
Legg-Calve-Perthes Syndrome 54
Legg-Calve-Perthes Symptom 12
Osteochondritis Deformans 54
Calve - Perthes' Disease 12
Calve-Perthes Disease 26
Perthe's Disease 12
Pseudocoxalgia 12
Lcp 58

Characteristics:

Orphanet epidemiological data:

60
legg-calvé-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant vs. multifactorial


HPO:

33
legg-calve-perthes disease:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14415
OMIM 58 150600
KEGG 38 H01526
MeSH 45 D007873
NCIt 51 C34766
SNOMED-CT 69 15739006
ICD10 34 M91 M91.2 M91.3
ICD10 via Orphanet 35 M91.1
UMLS via Orphanet 75 C0023234
Orphanet 60 ORPHA2380
MedGen 43 C0023234

Summaries for Legg-Calve-Perthes Disease

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...

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 188)
# Related Disease Score Top Affiliating Genes
1 osteonecrosis 30.6 COL2A1 SERPINC1 SERPINE1
2 thrombophilia 30.4 F5 SERPINC1 SERPINE1 THBD
3 protein c deficiency 30.1 F5 SERPINC1 THBD
4 brittle bone disorder 30.0 COL2A1 PEPD
5 thrombosis 28.6 F5 SELP SERPINC1 SERPINE1 THBD
6 arthrogryposis, perthes disease, and upward gaze palsy 12.6
7 familial avascular necrosis of the femoral head 11.6
8 lmna-related cardiocutaneous progeria syndrome 11.5
9 garret tripp syndrome 11.2
10 endosteal hyperostosis, autosomal dominant 11.1
11 osteomesopyknosis 11.1
12 upington disease 10.8
13 osteochondrosis 10.6
14 osteochondritis dissecans 10.6
15 idiopathic avascular necrosis 10.6
16 multiple epiphyseal dysplasia 10.4
17 arthritis 10.3
18 albright's hereditary osteodystrophy 10.3
19 exostosis 10.3
20 synovitis 10.3
21 hypopituitarism 10.3
22 factor v leiden thrombophilia 10.3
23 bowenoid papulosis 10.3
24 kienbock's disease 10.3
25 synovial chondromatosis 10.3
26 slipped capital femoral epiphysis 10.3
27 epiphysiolysis of the hip 10.3
28 marantic endocarditis 10.3 SERPINC1 THBD
29 fibrinolytic defect 10.3 SERPINC1 SERPINE1
30 aspirin allergy 10.3 SERPINC1 SERPINE1
31 argentine hemorrhagic fever 10.3 SERPINC1 SERPINE1
32 blue toe syndrome 10.2 SERPINC1 SERPINE1
33 livedoid vasculitis 10.2 SERPINC1 SERPINE1
34 spinal cord infarction 10.2 F5 SERPINC1
35 fournier gangrene 10.2 CD40LG SERPINC1
36 heparin-induced thrombocytopenia 10.2 CD40LG SERPINC1
37 factor xi deficiency 10.2 SERPINC1 THBD
38 prothrombin deficiency, congenital 10.2 F5 SERPINC1
39 sagittal sinus thrombosis 10.2 F5 SERPINC1
40 congenital toxoplasmosis 10.2 CD40LG COL2A1
41 genitourinary tract anomalies 10.2
42 scheie syndrome 10.2
43 gaucher's disease 10.2
44 coronary thrombosis 10.2 SERPINC1 SERPINE1
45 hepatic vascular disease 10.2 SERPINC1 SERPINE1
46 antithrombin iii deficiency 10.2 F5 SERPINC1
47 peripheral vertigo 10.2 F5 SERPINC1
48 central retinal vein occlusion 10.2 F5 SERPINC1
49 intracranial thrombosis 10.2 F5 SERPINC1
50 blood protein disease 10.2 F5 SERPINC1

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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001373
2 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
3 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
6 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
7 cartilage destruction 60 33 hallmark (90%) Very frequent (99-80%) HP:0100773
8 avascular necrosis 33 hallmark (90%) HP:0010885
9 aseptic necrosis 60 Very frequent (99-80%)
10 avascular necrosis of the capital femoral epiphysis 33 HP:0005743

Symptoms via clinical synopsis from OMIM:

58
Growth:
short stature

Limbs:
painful limp

Misc:
onset 6-9 years
more severe in females

Radiology:
delayed bone age
necrosis of capital femoral epiphysis

Skel:
legg-calve-perthes disease

Clinical features from OMIM:

150600

GenomeRNAi Phenotypes related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.92 SELP SERPINC1 SERPINE1 THBD

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

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 CD40LG COL2A1 F5 PEPD SELE SELP
2 homeostasis/metabolism MP:0005376 10.09 CD40LG COL2A1 F5 PEPD SELE SELP
3 growth/size/body region MP:0005378 10.02 COL2A1 F5 PEPD SELE SELP SERPINE1
4 immune system MP:0005387 10.01 CD40LG COL2A1 PEPD SELE SELP SERPINC1
5 hematopoietic system MP:0005397 10 CD40LG PEPD SELE SELP SERPINC1 SERPINE1
6 integument MP:0010771 9.91 CD40LG F5 PEPD SELE SELP SERPINE1
7 mortality/aging MP:0010768 9.91 CD40LG COL2A1 F5 PEPD SELE SELP
8 embryo MP:0005380 9.89 COL2A1 F5 PEPD SERPINC1 THBD
9 liver/biliary system MP:0005370 9.87 COL2A1 F5 SELE SELP SERPINC1 SERPINE1
10 nervous system MP:0003631 9.7 CD40LG COL2A1 F5 PEPD SELP SERPINC1
11 renal/urinary system MP:0005367 9.5 CD40LG COL2A1 PEPD SELP SERPINC1 SERPINE1
12 respiratory system MP:0005388 9.02 COL2A1 SELE SELP SERPINE1 THBD

Drugs & Therapeutics for Legg-Calve-Perthes Disease

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Not Applicable 124-94-7 31307
2
Tocopherol Approved, Investigational 1406-66-2 14986
3
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
4 Tocotrienol Investigational 6829-55-6
5 Immunologic Factors Not Applicable
6 glucocorticoids Not Applicable
7 Triamcinolone hexacetonide Not Applicable
8 Anti-Inflammatory Agents Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
10 Hormones Not Applicable
11 Immunosuppressive Agents Not Applicable
12 triamcinolone acetonide Not Applicable
13 Triamcinolone diacetate Not Applicable
14 Hormone Antagonists Not Applicable
15 Vitamins
16 Tocopherols
17 Tocotrienols

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip Replacement Terminated NCT00208468 Phase 3
2 Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease Recruiting NCT02040714
3 The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' Disease Completed NCT02676271
4 Perthes Disease in Norway Enrolling by invitation NCT03885960
5 Intraarticular Corticosteroid Therapy in Perthes Disease. Terminated NCT01026909 Not Applicable Aristospan 20mg
6 WOMAC Hip Score in Children and Adolescents With Perthes Disease Recruiting NCT02795494
7 The Effect of Perthes' Disease on Hip Cartilage Recruiting NCT00958464
8 Lateral Shelf Acetabuloplasty in Perthes Disease Recruiting NCT03321422
9 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
10 Evaluate E1 Wear, Clinical Performance of E1 Liner in THA in Korean Patient Population Active, not recruiting NCT02087449
11 Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density Active, not recruiting NCT02087436 Not Applicable

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 30 COL2A1

Anatomical Context for 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

Publications for Legg-Calve-Perthes Disease

Articles related to Legg-Calve-Perthes Disease:

(show top 50) (show all 1168)
# Title Authors Year
1
Hip arthroscopy for Legg-Calvè-Perthes disease in paediatric population. ( 30956023 )
2019
2
A new scheme for automatic 2D detection of spheric and aspheric femoral heads: A case study on coronal MR images of bilateral hip joints of patients with Legg-Calve-Perthes disease. ( 31104717 )
2019
3
Analysis of Trabecular Microstructure and Vascular Distribution of Capital Femoral Epiphysis Relevant to Legg-Calve-Perthes Disease. ( 30977552 )
2019
4
Diffusion-weighted MRI for outcome prediction in early Legg-Calvé-Perthes disease: Medium-term radiographic correlations. ( 30962173 )
2019
5
Aetiology of Legg-Calvé-Perthes disease: A systematic review. ( 30918798 )
2019
6
Association of eNOS 27-bp VNTR, 894G>T and 786T>C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children. ( 30890857 )
2019
7
Intra- and inter-observer reliability of Laredo classification system in Legg-Calvé-Perthes Disease. ( 30788596 )
2019
8
Agreement of radiographic measurements and patient-reported outcome in 61 patients with Legg-Calvé-Perthes disease at mean follow-up of 28 years. ( 30308553 )
2019
9
Determining Hinge Abduction in Legg-Calvé-Perthes Disease: Can We Reliably Make the Diagnosis? ( 29219855 )
2019
10
A comparison of subtraction MRI with the standard contrast-enhanced imaging in Perthes' disease. ( 30838080 )
2019
11
Perspectives on the Social, Physical, and Emotional Impact of Living With Perthes' Disease in Children and Their Family: A Mixed Methods Study. ( 30993152 )
2019
12
Association of MTHFR and TNF-α genes polymorphisms with susceptibility to Legg-Calve-Perthes disease in Iranian children: A case-control study. ( 30224855 )
2018
13
Height-Width Ratio of Proximal Femoral Epiphysis: Estimation of Lateral Pillar Involvement in Bilateral Perthes Disease. ( 30199461 )
2018
14
Outcome of Closed Wedge Varus Derotation Osteotomy with Trochanteric Apophysiodesis in Perthes Disease. ( 30532302 )
2018
15
Single Versus Combined Procedures for Severely Involved Legg-Calvé-Perthes Disease. ( 27442215 )
2018
16
Quantitative susceptibility mapping detects neovascularization of the epiphyseal cartilage after ischemic injury in a piglet model of legg-calvé-perthes disease. ( 30556613 )
2018
17
CORR Insights®: What are the Demographics and Epidemiology of Legg-Calvé-Perthes Disease in a Large Southern California Integrated Health System? ( 30422968 )
2018
18
MRI and sonography in Legg-Calvé-Perthes disease: clinical relevance of containment and influence on treatment. ( 30294371 )
2018
19
A Case of Animal and Domestic Abuse Initially Diagnosed as Legg-Calve-Perthes Disease. ( 30272484 )
2018
20
What are the Demographics and Epidemiology of Legg-Calvé-Perthes Disease in a Large Southern California Integrated Health System? ( 30211706 )
2018
21
Pediatric Hip Disorders: Slipped Capital Femoral Epiphysis and Legg-Calvé-Perthes Disease. ( 30171056 )
2018
22
Imageless Navigation Improves Intraoperative Monitoring of Leg Length Changes during Total Hip Arthroplasty for Legg-Calve-Perthes Disease: Two Case Reports. ( 30123597 )
2018
23
Effectiveness of Strontium Ranelate in the Treatment of Rat Model of Legg-Calve-Perthes Disease. ( 30078896 )
2018
24
Role of Advanced Imaging in the Diagnosis and Management of Active Legg-Calvé-Perthes Disease. ( 29939867 )
2018
25
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. ( 29847463 )
2018
26
Is Legg-Calvé-Perthes Disease a Local Manifestation of a Systemic Condition? ( 29481348 )
2018
27
The potential role of variations in juvenile hip geometry on the development of Legg-Calvé-Perthes disease: a biomechanical investigation. ( 29419321 )
2018
28
Downregulated SOX9 mediated by miR-206 promoted cell apoptosis in Legg-Calvé-Perthes disease. ( 29387248 )
2018
29
Outcomes in patients with late sequelae (healed stage) of Legg-Calvé-Perthes disease undergoing arthroscopic treatment: retrospective case series. ( 29192726 )
2018
30
MRI appearance in the early stage of Legg-Calvé-Perthes disease to predict lateral pillar classification: A retrospective analysis of the labral horizontalization. ( 29157629 )
2018
31
Legg-Calvé-Perthes disease. ( 29155310 )
2018
32
Is VEGF under-expressed in Indian children with Perthes disease? ( 28956304 )
2018
33
New insights into the biomechanics of Legg-Calvé-Perthes' disease: The Role of Epiphyseal Skeletal Immaturity in Vascular Obstruction. ( 29437587 )
2018
34
Short Term Outcome of Varus Derotation Osteotomy in Late Presenting Perthes Disease. ( 29576640 )
2018
35
Treatment outcome of dome osteotomy of the pelvis combined with trochanteric advancement for sequelae of Perthes' disease. ( 29598843 )
2018
36
A simple, precocious, and reliable way to assess future clinical outcome in children with Perthes disease and mild femoral head involvement: correlation between MRI with diffusion-weighted and dynamic gadolinium-enhanced subtraction and Catterall and Herring classifications. ( 29696413 )
2018
37
The outcomes of Perthes' disease of the hip: a study protocol for the development of a core outcome set. ( 30005667 )
2018
38
3-dimensional metrics of proximal femoral shape deformities in Legg-Calvé-Perthes disease and slipped capital femoral epiphysis. ( 29087625 )
2018
39
Advanced containment methods for Legg-Calvé-Perthes disease: triple pelvic osteotomy versus Chiari osteotomy. ( 29027185 )
2018
40
Correlation between MRI and hip arthroscopy in children with Legg-Calve-Perthes disease. ( 29027115 )
2018
41
Clinical outcomes of conservative treatment with a non-weight-bearing abduction brace for Legg-Calvé-Perthes disease. ( 28982606 )
2018
42
Quantitative MRI Helps to Detect Hip Ischemia: Preclinical Model of Legg-Calvé-Perthes Disease. ( 30063188 )
2018
43
Perthes disease: A new finding in Floating-Harbor syndrome. ( 29383823 )
2018
44
Denosumab and surgery for the treatment of Perthes' disease in a 9-year-old boy: favorable course documented by comprehensive imaging- a case report. ( 28290756 )
2017
45
A long-term follow-up study of the clinical and radiographic outcome of distal trochanteric transfer in Legg-Calvé-Perthes' disease following varus derotational osteotomy. ( 28663408 )
2017
46
Advanced Containment With Triple Innominate Osteotomy in Legg-Calve-Perthes Disease: A Viable Option Even in Severe Cases. ( 26683505 )
2017
47
Long-term Results of Modified Salter Innominate Osteotomy for Legg-Calvé-Perthes Disease. ( 29201291 )
2017
48
The Declining Incidence of Legg-Calve-Perthes' Disease in Northern Ireland: An Epidemiological Study. ( 27328117 )
2017
49
Incidence of Perthes' disease in children born between 1973 and 1993. ( 27587239 )
2017
50
Total hip arthroplasty using a monobloc cementless femoral stem for patients with childhood Perthes' disease. ( 28385931 )
2017

Variations for Legg-Calve-Perthes Disease

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

76
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly1170Ser VAR_023933 rs121912891

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

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
2 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
3 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Likely pathogenic rs281864980 GRCh38 Chromosome 12, 101766189: 101766189
4 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Likely pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
5 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
6 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
7 COL2A1 NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh38 Chromosome 12, 47976052: 47976052
8 COL2A1 NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh37 Chromosome 12, 48369835: 48369835
9 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
10 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
11 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561
12 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
13 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh38 Chromosome 12, 47994437: 47994437
14 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh37 Chromosome 12, 48388220: 48388220
15 46;XY;t(8;9)(q13;p22)dn Translocation Pathogenic

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:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 F5 SELE SELP SERPINC1 SERPINE1 THBD
2
Show member pathways
12.43 COL2A1 F5 SERPINC1 THBD
3
Show member pathways
11.86 SELE SELP THBD
4 11.71 CD40LG SELE SELP
5 11.5 SELE SERPINE1 THBD
6
Show member pathways
11.46 F5 SERPINC1 SERPINE1 THBD
7 11.31 CD40LG SELP
8
Show member pathways
11.29 CD40LG SELE
9 11.26 COL2A1 SERPINE1
10 11.22 CD40LG COL2A1
11 11.07 F5 SERPINC1 SERPINE1 THBD
12 11.02 CD40LG SELE SELP

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 endoplasmic reticulum lumen GO:0005788 9.33 COL2A1 F5 SERPINC1
2 extracellular space GO:0005615 9.23 CD40LG COL2A1 F5 SELE SELP SERPINC1
3 collagen-containing extracellular matrix GO:0062023 9.13 COL2A1 SERPINC1 SERPINE1

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.61 F5 SERPINC1 THBD
2 response to lipopolysaccharide GO:0032496 9.58 SELE SELP THBD
3 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.46 SELE SELP
4 platelet degranulation GO:0002576 9.43 F5 SELP SERPINE1
5 leukocyte tethering or rolling GO:0050901 9.37 SELE SELP
6 negative regulation of blood coagulation GO:0030195 9.32 SERPINE1 THBD
7 negative regulation of fibrinolysis GO:0051918 9.16 SERPINE1 THBD
8 hemostasis GO:0007599 9.13 F5 SERPINC1 THBD
9 leukocyte cell-cell adhesion GO:0007159 8.8 CD40LG SELE SELP

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 8.96 SELE SELP
2 sialic acid binding GO:0033691 8.62 SELE SELP

Sources for Legg-Calve-Perthes Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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