LCPD
MCID: LGG001
MIFTS: 57

Legg-Calve-Perthes Disease (LCPD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Legg-Calve-Perthes Disease

Aliases & Descriptions for Legg-Calve-Perthes Disease:

Name: Legg-Calve-Perthes Disease 54 12 50 66 13 42 14 69 25 56
Perthes Disease 12 50 25 56 66 52
Coxa Plana 12 50 25 29
Lcpd 50 25 66
Avascular Necrosis of the Capital Femoral Epiphysis 69
Aseptic Necrosis of the Capital Femoral Epiphysis 56
Osteochondritis of the Capital Femoral Epiphysis 56
Osteochondrosis of the Capital Femoral Epiphysis 56
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 50
Legg-Calve-Perthes Symptom 12
Osteochondritis Deformans 50
Calve - Perthes' Disease 12
Calve-Perthes Disease 25
Legg-Perthes Disease 66
Perthe's Disease 12
Pseudocoxalgia 12

Characteristics:

Orphanet epidemiological data:

56
legg-calvé-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 54 150600
Disease Ontology 12 DOID:14415
ICD10 33 M91.2 M91.3 M91
MeSH 42 D007873
NCIt 47 C34766
Orphanet 56 ORPHA2380
UMLS via Orphanet 70 C0023234
ICD10 via Orphanet 34 M91.1
MedGen 40 C0023234

Summaries for Legg-Calve-Perthes Disease

NIH Rare Diseases : 50 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 arthrogryposis, perthes disease, and upward gaze palsy and garret tripp syndrome, 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 Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Triamcinolone and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and hip joint, and related phenotypes are cardiovascular system and homeostasis/metabolism

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

OMIM : 54 Legg-Calve-Perthes disease is characterized by loss of circulation to the femoral head, resulting in avascular necrosis... (150600) more...

UniProtKB/Swiss-Prot : 66 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 131)
id Related Disease Score Top Affiliating Genes
1 arthrogryposis, perthes disease, and upward gaze palsy 12.2
2 garret tripp syndrome 10.8
3 upington disease 10.5
4 osteochondritis dissecans 10.3
5 thrombophilia 10.3
6 brazilian hemorrhagic fever 10.2 SERPINC1 SERPINE1
7 ductal carcinoma in situ 10.2 SERPINC1 THBD
8 midline cystocele 10.2 SERPINC1 SERPINE1
9 secretory diarrhea myopathy and deafness 10.2 SERPINC1 SERPINE1
10 pancreatic ductal carcinoma 10.2 F5 SERPINC1
11 may-hegglin anomaly 10.2 APOH SERPINC1
12 myosclerosis, congenital 10.2 F5 SERPINC1
13 monocular exotropia 10.2 SERPINC1 SERPINE1
14 spinal cord lipoma 10.2 APOH SERPINC1
15 septic myocarditis 10.2 SERPINC1 THBD
16 absence of innominate vein 10.2 F5 SERPINE1
17 aminoaciduria 10.2 F5 SERPINE1
18 med13l syndrome 10.1 APOH F5
19 achard thiers syndrome 10.1 APOH F5
20 sialadenitis 10.1 APOH THBD
21 inherited blood coagulation disease 10.1 F5 SERPINE1
22 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 APOH F5
23 multiple epiphyseal dysplasia 10.1
24 lung cancer 10.1 APOH F5
25 microphthalmia, isolated, with coloboma 10 10.1 F5 SERPINE1
26 hendra virus infection 10.1 APOH F5
27 de quervain disease 10.1 SELE THBD
28 pancreas adenocarcinoma 10.1 COL2A1 SERPINC1 SERPINE1
29 osteochondrosis 10.1
30 osteonecrosis 10.1
31 exostosis 10.1
32 synovitis 10.1
33 hypopituitarism 10.1
34 factor v leiden thrombophilia 10.1
35 kienbock's disease 10.1
36 pandas 10.1
37 avascular necrosis of the femoral head 10.1
38 arthritis 10.1
39 chromosomal disease 10.1 COL2A1 SERPINE1
40 craniosynostosis 3 10.1 PEPD SELE
41 cetp-related hyperalphalipoproteinemia 10.1 SELE SERPINE1
42 cysticercosis 10.1 CD40LG SERPINC1
43 zika virus congenital syndrome 10.1 SERPINC1 SERPINE1 THBD
44 atherosclerosis 10.1 APOH SELE
45 chronic thromboembolic pulmonary hypertension 10.1 SELE THBD
46 freiberg's disease 10.1 CD40LG SERPINC1
47 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.1 CD40LG SERPINC1
48 pedophilia 10.1 CD40LG COL2A1
49 herpes simplex 10.1 APOH COL2A1 THBD
50 eagle syndrome 10.1 F5 SERPINC1 THBD

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 by clinical synopsis from OMIM:

150600

Clinical features from OMIM:

150600

Human phenotypes related to Legg-Calve-Perthes Disease:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 joint dislocation 56 32 Very frequent (99-80%) HP:0001373
3 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
4 aseptic necrosis 56 32 Very frequent (99-80%) HP:0010885
5 abnormality of the teeth 56 32 Very frequent (99-80%) HP:0000164
6 short stature 56 32 Very frequent (99-80%) HP:0004322
7 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
8 cartilage destruction 56 32 Very frequent (99-80%) HP:0100773
9 avascular necrosis of the capital femoral epiphysis 32 HP:0005743

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 CD40LG COL2A1 F5 PEPD SELE SERPINC1
2 homeostasis/metabolism MP:0005376 10.02 APOH CD40LG COL2A1 F5 PEPD SELE
3 immune system MP:0005387 9.87 CD40LG COL2A1 PEPD SELE SERPINC1 SERPINE1
4 embryo MP:0005380 9.8 PEPD SERPINC1 THBD COL2A1 F5
5 integument MP:0010771 9.73 CD40LG F5 PEPD SELE SERPINE1 THBD
6 liver/biliary system MP:0005370 9.63 COL2A1 F5 SELE SERPINC1 SERPINE1 THBD
7 mortality/aging MP:0010768 9.61 THBD APOH CD40LG COL2A1 F5 PEPD
8 renal/urinary system MP:0005367 9.1 CD40LG COL2A1 PEPD SERPINC1 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved 124-94-7 31307
2
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
3 Tocopherols
4 Tocotrienols
5 Vitamins
6 triamcinolone acetonide
7 glucocorticoids
8 Hormone Antagonists
9 Triamcinolone diacetate
10 Triamcinolone hexacetonide
11 Hormones
12 Hormones, Hormone Substitutes, and Hormone Antagonists
13 Immunosuppressive Agents
14 Anti-Inflammatory Agents
15 Tocopherol Nutraceutical
16 Tocotrienol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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 Evaluate E1 Wear, Clinical Performance of E1 Liner in THA in Korean Patient Population Active, not recruiting NCT02087449
7 Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density Active, not recruiting NCT02087436
8 The Effect of Perthes' Disease on Hip Cartilage Suspended NCT00958464
9 Intraarticular Corticosteroid Therapy in Perthes Disease. Terminated NCT01026909

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:

id Genetic test Affiliating Genes
1 Coxa Plana 29

Anatomical Context for Legg-Calve-Perthes Disease

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

39
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 102)
id Title Authors Year
1
Synovial osteochondromatosis in a 14-year-old boy with a history of Legg-Calve-Perthes disease. ( 28491198 )
2017
2
Legg-Calve-Perthes disease: A must know entity for anaesthesiologists. ( 26962263 )
2016
3
Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report. ( 27698645 )
2016
4
Treatment of Late-Onset Legg-Calve-Perthes Disease by Arthrodiastasis. ( 27904729 )
2016
5
Alumina-alumina total hip arthroplasty for the sequelae of Legg-Calve-Perthes disease: A comparative study with adult-onset osteonecrosis. ( 27522609 )
2016
6
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
7
TAPnnis triple pelvic osteotomy for Legg-Calve-Perthes disease. ( 25417791 )
2015
8
Comparative study of serum proteomes in Legg-Calve-Perthes disease. ( 26438379 )
2015
9
Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery. ( 26300943 )
2015
10
Advanced Containment With Triple Innominate Osteotomy in Legg-Calve-Perthes Disease: A Viable Option Even in Severe Cases. ( 26683505 )
2015
11
Treatment of Arthritis Associated With Legg-Calve-Perthes Disease With Modular Total Hip Arthroplasty. ( 25979188 )
2015
12
Triple osteotomy of the pelvis for Legg-Calve-Perthes disease: a mean fifteen year follow-up. ( 25645439 )
2015
13
Guided growth of the trochanteric apophysis combined with soft tissue release for Legg-Calve-Perthes disease. ( 24563149 )
2014
14
Timing of premature physeal closure in Legg-Calve-Perthes Disease. ( 24916137 )
2014
15
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
16
Evolution in diagnosis and treatment of Legg-Calve-Perthes disease. ( 25207324 )
2014
17
Increased soluble selectins as a reflection of activated platelets and endothelium in Legg-Calve-Perthes disease. ( 25000467 )
2014
18
"Femoroacetabular impingement". Legg-Calve-Perthes disease: from childhood to adulthood. ( 25217031 )
2014
19
Salter pelvic osteotomy in the treatment of Legg-Calve-Perthes disease: the medium-term results. ( 24873086 )
2014
20
Shelf Acetabuloplasty for Containment in the Early Stages of Legg-Calve-Perthes Disease. ( 24840656 )
2014
21
Legg-Calve-Perthes disease in two generations of male family members: a case report. ( 24014797 )
2013
22
Custom Cementless THA in Patients With Legg-Calve-Perthes Disease. ( 24018160 )
2013
23
Management of Legg-Calve-Perthes disease with acupuncture: a case report. ( 23234840 )
2013
24
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
25
Diffusion MRI of the neck of the femur in Legg-Calve-Perthes disease: a preliminary study. ( 23206418 )
2013
26
Combined osteotomy in patients with severe Legg-Calve-Perthes disease. ( 23451451 )
2012
27
A comparison of the effectiveness of surgical and nonsurgical treatment of legg-calve-perthes disease: a review of the literature. ( 22953066 )
2012
28
Transtrochanteric rotational osteotomy for late-onset Legg-Calve-Perthes disease. ( 21857443 )
2011
29
Prognosis and prognostic factors of Legg-Calve-Perthes disease. ( 21857429 )
2011
30
Potential for bisphosphonate treatment in Legg-Calve-Perthes disease. ( 21857436 )
2011
31
Legg-Calve-Perthes disease centenary. ( 21857425 )
2011
32
Femoral varus osteotomy in Legg-Calve-Perthes disease. ( 21857437 )
2011
33
Legg-Calve-Perthes disease: etiology, pathogenesis, and biology. ( 21857428 )
2011
34
Labral support shelf arthroplasty for containment in early stages of Legg-Calve-Perthes disease. ( 21857440 )
2011
35
Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease. ( 21304409 )
2011
36
The role of bracing in Legg-Calve-Perthes disease. ( 21857435 )
2011
37
Natural history of early onset and late-onset Legg-Calve-Perthes disease. ( 21857430 )
2011
38
Triple pelvic osteotomy in Legg-Calve-Perthes disease using a single anterolateral incision: a 4-year review. ( 20386118 )
2010
39
Legg-Calve-Perthes disease and risks for cardiovascular diseases and blood diseases. ( 20439602 )
2010
40
Legg-Calve-Perthes disease in a patient with Albright hereditary osteodystrophy: a case report. ( 20124073 )
2010
41
Conservative versus surgical treatment of late-onset Legg-Calve-Perthes disease: a radiographic comparison at skeletal maturity. ( 19308608 )
2009
42
Coxa magna quantification using MRI in Legg-Calve-Perthes disease. ( 18992975 )
2009
43
Systemic effects of zoledronic acid in children with traumatic femoral head avascular necrosis and Legg-Calve-Perthes disease. ( 19446052 )
2009
44
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
45
Triple pelvic osteotomy in the treatment of Legg-Calve-Perthes disease. ( 19301002 )
2009
46
MRI of Legg-Calve-Perthes disease. ( 19843759 )
2009
47
Thrombomodulin and GFC levels in Legg-Calve-Perthes disease. ( 19055859 )
2008
48
A histological and ultrastructural study of the iliac crest apophysis in Legg-Calve-Perthes disease. ( 18520280 )
2008
49
Sagittal spinal alignment in patients with Legg-Calve-Perthes disease. ( 17875086 )
2007
50
Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred. ( 17878795 )
2007

Variations for Legg-Calve-Perthes Disease

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

66
id Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly1170Ser VAR_023933 rs121912891

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

6
id 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

GO Terms for Legg-Calve-Perthes Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.43 APOH COL2A1 SERPINE1
2 extracellular region GO:0005576 9.43 APOH CD40LG COL2A1 F5 SERPINC1 SERPINE1
3 endoplasmic reticulum lumen GO:0005788 9.33 COL2A1 F5 SERPINC1
4 extracellular space GO:0005615 9.23 APOH CD40LG COL2A1 F5 SELE SERPINC1

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.61 F5 SERPINC1 THBD
2 platelet degranulation GO:0002576 9.5 APOH F5 SERPINE1
3 leukocyte cell-cell adhesion GO:0007159 9.4 CD40LG SELE
4 regulation of blood coagulation GO:0030193 9.37 APOH SERPINC1
5 hemostasis GO:0007599 9.33 F5 SERPINC1 THBD
6 positive regulation of blood coagulation GO:0030194 9.26 APOH SERPINE1
7 negative regulation of blood coagulation GO:0030195 9.13 APOH SERPINE1 THBD
8 negative regulation of fibrinolysis GO:0051918 8.8 APOH SERPINE1 THBD

Sources for Legg-Calve-Perthes Disease

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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