MCID: LGG001
MIFTS: 59

Legg-Calve-Perthes Disease

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Legg-Calve-Perthes Disease

MalaCards integrated aliases for Legg-Calve-Perthes Disease:

Name: Legg-Calve-Perthes Disease 53 12 49 71 36 13 41 14 69 24 55
Perthes Disease 53 12 49 24 55 71 51
Coxa Plana 12 49 24 28
Lcpd 53 49 24 71
Avascular Necrosis of the Capital Femoral Epiphysis 69 28
Legg-Perthes Disease 53 71
Aseptic Necrosis of the Capital Femoral Epiphysis 55
Osteochondritis of the Capital Femoral Epiphysis 55
Osteochondrosis of the Capital Femoral Epiphysis 55
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-Calve-Perthes Syndrome 49
Legg-Calve-Perthes Symptom 12
Osteochondritis Deformans 49
Calve - Perthes' Disease 12
Calve-Perthes Disease 24
Perthe's Disease 12
Pseudocoxalgia 12
Lcp 53

Characteristics:

Orphanet epidemiological data:

55
legg-calvé-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant vs. multifactorial


Classifications:



External Ids:

OMIM 53 150600
Disease Ontology 12 DOID:14415
ICD10 32 M91.2 M91.3 M91
MeSH 41 D007873
NCIt 46 C34766
Orphanet 55 ORPHA2380
UMLS via Orphanet 70 C0023234
ICD10 via Orphanet 33 M91.1
MedGen 39 C0023234
KEGG 36 H01526

Summaries for Legg-Calve-Perthes Disease

NIH Rare Diseases : 49 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. Last updated: 7/28/2016

MalaCards based summary : Legg-Calve-Perthes Disease, also known as perthes disease, is related to osteonecrosis and thrombophilia, and has symptoms including arthralgia, joint dislocation and delayed skeletal maturation. 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 hip joint, and related phenotypes are Synthetic lethal with vaccinia virus (VACV) infection and cardiovascular system

Disease Ontology : 12 An osteochondrosis that results_in death and fracture located in hip joint.

OMIM : 53 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 : 71 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.

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 146)
# Related Disease Score Top Affiliating Genes
1 osteonecrosis 30.5 COL2A1 SERPINC1 SERPINE1
2 thrombophilia 30.0 F5 SERPINC1 SERPINE1 THBD
3 arthrogryposis, perthes disease, and upward gaze palsy 12.3
4 garret tripp syndrome 11.0
5 endosteal hyperostosis, autosomal dominant 10.9
6 osteomesopyknosis 10.9
7 upington disease 10.6
8 osteochondritis dissecans 10.4
9 marantic endocarditis 10.4 SERPINC1 THBD
10 fibrinolytic defect 10.4 SERPINC1 SERPINE1
11 argentine hemorrhagic fever 10.3 SERPINC1 SERPINE1
12 blue toe syndrome 10.3 SERPINC1 SERPINE1
13 angina pectoris 10.3 SERPINC1 SERPINE1
14 spinal cord infarction 10.3 F5 SERPINC1
15 sudden sensorineural hearing loss 10.3 F5 SERPINC1
16 coronary thrombosis 10.3 SERPINC1 SERPINE1
17 prothrombin deficiency, congenital 10.3 F5 SERPINC1
18 ischemic bone disease 10.3 COL2A1 SERPINE1
19 sagittal sinus thrombosis 10.3 F5 SERPINC1
20 sneddon syndrome 10.3 F5 SERPINC1
21 intracranial thrombosis 10.3 F5 SERPINC1
22 hepatic vascular disease 10.3 SERPINC1 SERPINE1
23 factor xii deficiency 10.3 F5 SERPINC1
24 antithrombin iii deficiency 10.3 F5 SERPINC1
25 peripheral vertigo 10.3 F5 SERPINC1
26 central retinal vein occlusion 10.2 F5 SERPINC1
27 boutonneuse fever 10.2 SELE THBD
28 inferior vena cava interruption 10.2 F5 SERPINE1
29 chronic active epstein-barr virus infection 10.2 SELE THBD
30 amaurosis fugax 10.2 F5 SERPINE1
31 platelet aggregation, spontaneous 10.2 SELP SERPINC1
32 carotid artery occlusion 10.2 F5 THBD
33 cryptogenic cirrhosis 10.2 F5 SERPINE1
34 protein s deficiency 10.2 F5 SERPINC1
35 vein disease 10.2 F5 SERPINC1
36 mitral valve stenosis 10.2 SELP SERPINC1
37 epileptic encephalopathy, childhood-onset 10.2 SERPINC1 SERPINE1
38 buerger disease 10.2 SELE SERPINE1
39 aging 10.2
40 avascular necrosis of femoral head, primary, 1 10.2
41 episodic pain syndrome, familial, 1 10.2
42 arthritis 10.2
43 osteochondrosis 10.2
44 exostosis 10.2
45 synovitis 10.2
46 hypopituitarism 10.2
47 factor v leiden thrombophilia 10.2
48 kienbock's disease 10.2
49 pandas 10.2
50 lmna-related cardiocutaneous progeria syndrome 10.2

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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Legg-Calve-Perthes Disease:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001373
3 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 aseptic necrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010885
5 abnormality of the dentition 55 31 hallmark (90%) Very frequent (99-80%) HP:0000164
6 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
8 cartilage destruction 55 31 hallmark (90%) Very frequent (99-80%) HP:0100773
9 avascular necrosis of the capital femoral epiphysis 31 HP:0005743

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

25
# 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:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 SELE COL2A1 SELP F5 PEPD SERPINC1
2 homeostasis/metabolism MP:0005376 10.09 CD40LG SELE COL2A1 SELP F5 PEPD
3 growth/size/body region MP:0005378 10.02 PEPD SELE COL2A1 F5 SELP SERPINE1
4 immune system MP:0005387 10.01 CD40LG SELE COL2A1 SELP PEPD SERPINE1
5 hematopoietic system MP:0005397 10 CD40LG SELE SELP PEPD SERPINC1 SERPINE1
6 integument MP:0010771 9.91 CD40LG SELE SELP F5 PEPD SERPINE1
7 mortality/aging MP:0010768 9.91 CD40LG SELE COL2A1 SELP F5 PEPD
8 liver/biliary system MP:0005370 9.87 SELE COL2A1 SELP F5 SERPINC1 SERPINE1
9 nervous system MP:0003631 9.7 PEPD CD40LG COL2A1 SELP F5 SERPINC1
10 renal/urinary system MP:0005367 9.5 COL2A1 SELP PEPD SERPINC1 CD40LG SERPINE1
11 respiratory system MP:0005388 9.02 SELE COL2A1 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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved 124-94-7 31307
2 Tocopherol Approved, Investigational, Nutraceutical
3
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
4 Tocopherols
5 Tocotrienols
6 Vitamins
7 Anti-Inflammatory Agents
8 glucocorticoids
9 Hormone Antagonists
10 Hormones
11 Hormones, Hormone Substitutes, and Hormone Antagonists
12 Immunosuppressive Agents
13 triamcinolone acetonide
14 Triamcinolone diacetate
15 Triamcinolone hexacetonide
16 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:


# 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 The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' Disease Completed NCT02676271
3 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
4 Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease Recruiting NCT02040714
5 WOMAC Hip Score in Children and Adolescents With Perthes Disease Recruiting NCT02795494
6 The Effect of Perthes' Disease on Hip Cartilage Recruiting NCT00958464
7 Lateral Shelf Acetabuloplasty in Perthes Disease Recruiting NCT03321422
8 Evaluate E1 Wear, Clinical Performance of E1 Liner in THA in Korean Patient Population Active, not recruiting NCT02087449
9 Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density Active, not recruiting NCT02087436
10 Intraarticular Corticosteroid Therapy in Perthes Disease. 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 28 COL2A1
2 Avascular Necrosis of the Capital Femoral Epiphysis 28

Anatomical Context for Legg-Calve-Perthes Disease

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

38
Bone, Skeletal Muscle

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

18
Hip Joint

Publications for Legg-Calve-Perthes Disease

Articles related to Legg-Calve-Perthes Disease:

(show top 50) (show all 104)
# Title Authors Year
1
Correlation between MRI and hip arthroscopy in children with Legg-Calve-Perthes disease. ( 29027115 )
2017
2
Monobloc implants in cementless total hip arthroplasty in patients with Legg-Calve-Perthes disease: a long-term follow-up. ( 28870190 )
2017
3
Synovial osteochondromatosis in a 14-year-old boy with a history of Legg-Calve-Perthes disease. ( 28491198 )
2017
4
Treatment of Late-Onset Legg-Calve-Perthes Disease by Arthrodiastasis. ( 27904729 )
2016
5
Legg-Calve-Perthes disease: A must know entity for anaesthesiologists. ( 26962263 )
2016
6
Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report. ( 27698645 )
2016
7
Alumina-alumina total hip arthroplasty for the sequelae of Legg-Calve-Perthes disease: A comparative study with adult-onset osteonecrosis. ( 27522609 )
2016
8
Advanced Containment With Triple Innominate Osteotomy in Legg-Calve-Perthes Disease: A Viable Option Even in Severe Cases. ( 26683505 )
2015
9
Triple osteotomy of the pelvis for Legg-Calve-Perthes disease: a mean fifteen year follow-up. ( 25645439 )
2015
10
Rotational open-wedge osteotomy improves treatment outcomes for patients older than eightA years with Legg-Calve-Perthes disease in the modified lateral pillar B/C border or C group. ( 25804206 )
2015
11
Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery. ( 26300943 )
2015
12
Treatment of Arthritis Associated With Legg-Calve-Perthes Disease With Modular Total Hip Arthroplasty. ( 25979188 )
2015
13
TAPnnis triple pelvic osteotomy for Legg-Calve-Perthes disease. ( 25417791 )
2015
14
Comparative study of serum proteomes in Legg-Calve-Perthes disease. ( 26438379 )
2015
15
Evolution in diagnosis and treatment of Legg-Calve-Perthes disease. ( 25207324 )
2014
16
Local delivery of recombinant human bone morphogenetic proteins and bisphosphonate via sucrose acetate isobutyrate can prevent femoral head collapse in Legg-Calve-Perthes disease: a pilot study in pigs. ( 24389948 )
2014
17
Timing of premature physeal closure in Legg-Calve-Perthes Disease. ( 24916137 )
2014
18
Guided growth of the trochanteric apophysis combined with soft tissue release for Legg-Calve-Perthes disease. ( 24563149 )
2014
19
Salter pelvic osteotomy in the treatment of Legg-Calve-Perthes disease: the medium-term results. ( 24873086 )
2014
20
Increased soluble selectins as a reflection of activated platelets and endothelium in Legg-Calve-Perthes disease. ( 25000467 )
2014
21
"Femoroacetabular impingement". Legg-Calve-Perthes disease: from childhood to adulthood. ( 25217031 )
2014
22
Shelf Acetabuloplasty for Containment in the Early Stages of Legg-Calve-Perthes Disease. ( 24840656 )
2014
23
MR perfusion index as a quantitative method of evaluating epiphyseal perfusion in Legg-Calve-Perthes disease and correlation with short-term radiographic outcome: a preliminary study. ( 23872796 )
2013
24
Management of Legg-Calve-Perthes disease with acupuncture: a case report. ( 23234840 )
2013
25
Diffusion MRI of the neck of the femur in Legg-Calve-Perthes disease: a preliminary study. ( 23206418 )
2013
26
Legg-Calve-Perthes disease in two generations of male family members: a case report. ( 24014797 )
2013
27
Custom Cementless THA in Patients With Legg-Calve-Perthes Disease. ( 24018160 )
2013
28
Combined osteotomy in patients with severe Legg-Calve-Perthes disease. ( 23451451 )
2012
29
A comparison of the effectiveness of surgical and nonsurgical treatment of legg-calve-perthes disease: a review of the literature. ( 22953066 )
2012
30
Labral support shelf arthroplasty for containment in early stages of Legg-Calve-Perthes disease. ( 21857440 )
2011
31
Natural history of early onset and late-onset Legg-Calve-Perthes disease. ( 21857430 )
2011
32
Legg-Calve-Perthes disease: etiology, pathogenesis, and biology. ( 21857428 )
2011
33
Femoral varus osteotomy in Legg-Calve-Perthes disease. ( 21857437 )
2011
34
Potential for bisphosphonate treatment in Legg-Calve-Perthes disease. ( 21857436 )
2011
35
Legg-Calve-Perthes disease centenary. ( 21857425 )
2011
36
Prognosis and prognostic factors of Legg-Calve-Perthes disease. ( 21857429 )
2011
37
Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease. ( 21304409 )
2011
38
Transtrochanteric rotational osteotomy for late-onset Legg-Calve-Perthes disease. ( 21857443 )
2011
39
The role of bracing in Legg-Calve-Perthes disease. ( 21857435 )
2011
40
Triple pelvic osteotomy in Legg-Calve-Perthes disease using a single anterolateral incision: a 4-year review. ( 20386118 )
2010
41
Legg-Calve-Perthes disease in a patient with Albright hereditary osteodystrophy: a case report. ( 20124073 )
2010
42
Legg-Calve-Perthes disease and risks for cardiovascular diseases and blood diseases. ( 20439602 )
2010
43
Coxa magna quantification using MRI in Legg-Calve-Perthes disease. ( 18992975 )
2009
44
Conservative versus surgical treatment of late-onset Legg-Calve-Perthes disease: a radiographic comparison at skeletal maturity. ( 19308608 )
2009
45
Systemic effects of zoledronic acid in children with traumatic femoral head avascular necrosis and Legg-Calve-Perthes disease. ( 19446052 )
2009
46
MRI of Legg-Calve-Perthes disease. ( 19843759 )
2009
47
Varus producing osteotomy for patients with lateral pillar type B and C Legg-Calve-Perthes disease followed to skeletal maturity. Castaneda et al. JCOR (2008), 2:373-379. ( 19308615 )
2009
48
Triple pelvic osteotomy in the treatment of Legg-Calve-Perthes disease. ( 19301002 )
2009
49
A histological and ultrastructural study of the iliac crest apophysis in Legg-Calve-Perthes disease. ( 18520280 )
2008
50
Thrombomodulin and GFC levels in Legg-Calve-Perthes disease. ( 19055859 )
2008

Variations for Legg-Calve-Perthes Disease

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

71
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly1170Ser VAR_023933 rs121912891

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh37 Chromosome 12, 48369835: 48369835

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:

36
# 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:

# 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 11.49 SELE SERPINE1 THBD
6
Show member pathways
11.46 F5 SERPINC1 SERPINE1 THBD
7 11.07 F5 SERPINC1 SERPINE1 THBD
8 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 extracellular space GO:0005615 9.23 CD40LG COL2A1 F5 SELE SELP SERPINC1
2 endoplasmic reticulum lumen GO:0005788 9.13 COL2A1 F5 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.63 SELE SELP THBD
2 blood coagulation GO:0007596 9.61 F5 SERPINC1 THBD
3 response to lipopolysaccharide GO:0032496 9.58 SELE SELP THBD
4 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.48 SELE SELP
5 platelet degranulation GO:0002576 9.43 F5 SELP SERPINE1
6 leukocyte tethering or rolling GO:0050901 9.37 SELE SELP
7 negative regulation of blood coagulation GO:0030195 9.32 SERPINE1 THBD
8 negative regulation of fibrinolysis GO:0051918 9.16 SERPINE1 THBD
9 hemostasis GO:0007599 9.13 F5 SERPINC1 THBD
10 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 sialic acid binding GO:0033691 8.96 SELE SELP
2 oligosaccharide binding GO:0070492 8.62 SELE SELP

Sources for Legg-Calve-Perthes Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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