MCID: LGG001
MIFTS: 56

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 54 12 50 71 13 42 14 69 25 56
Perthes Disease 12 50 25 56 71 52
Coxa Plana 12 50 25 29
Lcpd 50 25 71
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 71
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;

OMIM:

54
Inheritance:
autosomal dominant vs. multifactorial


Classifications:



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 short stature, delayed skeletal maturation and arthralgia. 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 Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle, and related phenotypes are homeostasis/metabolism and cardiovascular system

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.

OMIM : 54
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)

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

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 137)
id Related Disease Score Top Affiliating Genes
1 arthrogryposis, perthes disease, and upward gaze palsy 12.2
2 garret tripp syndrome 10.9
3 lymphatic system cancer 10.5 SERPINC1 THBD
4 venezuelan hemorrhagic fever 10.5 SERPINC1 SERPINE1
5 midline cystocele 10.5 SERPINC1 SERPINE1
6 chronic diarrhea due to guanylate cyclase 2c overactivity 10.5 SERPINC1 SERPINE1
7 upington disease 10.5
8 superior limbic keratoconjunctivitis 10.4 F5 SERPINC1
9 monocular exotropia 10.4 SERPINC1 SERPINE1
10 follicular adenoma 10.4 F5 SERPINC1
11 testicular gonadoblastoma 10.4 F5 SERPINC1
12 bone resorption disease 10.4 COL2A1 SERPINE1
13 fiedler's myocarditis 10.4 SERPINC1 THBD
14 capillary hemangioma 10.4 SERPINC1 SERPINE1
15 spinal cord lipoma 10.4 APOH SERPINC1
16 diphyllobothriasis 10.4 CD40LG SERPINC1
17 coronary sinus stenosis 10.4 F5 SERPINE1
18 osteochondritis dissecans 10.3
19 fragile x syndrome type 2 10.3 CD40LG SERPINC1
20 hereditary amyloidosis 10.3 CD40LG SERPINC1
21 amelogenesis imperfecta hypomaturation type 10.3 F5 SERPINE1
22 pedophilia 10.3 CD40LG COL2A1
23 rocky mountain spotted fever 10.3 CD40LG SERPINC1
24 mcgillivray syndrome 10.3 APOH F5
25 lujo hemorrhagic fever 10.3 CD40LG SERPINC1
26 accessory deep peroneal nerve 10.3 APOH F5
27 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.3 F5 SERPINE1
28 aryepiglottic fold cancer 10.3 F5 SERPINC1
29 thrombophilia 10.3
30 hepadnavirus infection 10.3 CD40LG SERPINC1
31 46,xy ovotesticular disorder of sex development 10.3 APOH F5
32 pregnancy loss, recurrent 1 10.2 APOH F5
33 inherited blood coagulation disease 10.2 F5 SERPINE1
34 ovarian insufficiency, familial 10.2 COL2A1 SERPINC1 SERPINE1
35 brown's tendon sheath syndrome 10.2 APOH CD40LG
36 alcoholic gastritis 10.2 APOH CD40LG
37 diabetes mellitus, insulin-dependent, 3 10.2 SERPINC1 SERPINE1
38 rubella 10.2 APOH CD40LG
39 haemophilus meningitis 10.1 SERPINC1 SERPINE1 THBD
40 factor v leiden thrombophilia 10.1
41 kienbock's disease 10.1
42 pandas 10.1
43 avascular necrosis of the femoral head 10.1
44 arthritis 10.1
45 osteochondrosis 10.1
46 osteonecrosis 10.1
47 exostosis 10.1
48 synovitis 10.1
49 hypopituitarism 10.1
50 glioblastoma multiforme 10.1 CD40LG 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 via clinical synopsis from OMIM:

54

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:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
4 joint dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001373
5 aseptic necrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0010885
6 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 cartilage destruction 56 32 hallmark (90%) Very frequent (99-80%) HP:0100773
8 abnormality of the teeth 56 Very frequent (99-80%)
9 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
10 abnormality of the dentition 32 hallmark (90%) HP:0000164

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 APOH CD40LG COL2A1 F5 PEPD SELE
2 cardiovascular system MP:0005385 10.01 CD40LG COL2A1 F5 PEPD SELE SERPINC1
3 immune system MP:0005387 9.87 CD40LG COL2A1 PEPD SELE SERPINC1 SERPINE1
4 integument MP:0010771 9.73 CD40LG F5 PEPD SELE SERPINE1 THBD
5 liver/biliary system MP:0005370 9.63 COL2A1 F5 SELE SERPINC1 SERPINE1 THBD
6 mortality/aging MP:0010768 9.61 THBD APOH CD40LG COL2A1 F5 PEPD
7 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 Tocopherol Approved, 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:


id 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 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 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:

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

Publications for Legg-Calve-Perthes Disease

Articles related to Legg-Calve-Perthes Disease:

(show top 50) (show all 103)
id Title Authors Year
1
Synovial osteochondromatosis in a 14-year-old boy with a history of Legg-Calve-Perthes disease. ( 28491198 )
2017
2
Monobloc implants in cementless total hip arthroplasty in patients with Legg-Calve-Perthes disease: a long-term follow-up. ( 28870190 )
2017
3
Treatment of Late-Onset Legg-Calve-Perthes Disease by Arthrodiastasis. ( 27904729 )
2016
4
Legg-Calve-Perthes disease: A must know entity for anaesthesiologists. ( 26962263 )
2016
5
Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report. ( 27698645 )
2016
6
Alumina-alumina total hip arthroplasty for the sequelae of Legg-Calve-Perthes disease: A comparative study with adult-onset osteonecrosis. ( 27522609 )
2016
7
TAPnnis triple pelvic osteotomy for Legg-Calve-Perthes disease. ( 25417791 )
2015
8
Advanced Containment With Triple Innominate Osteotomy in Legg-Calve-Perthes Disease: A Viable Option Even in Severe Cases. ( 26683505 )
2015
9
Treatment of Arthritis Associated With Legg-Calve-Perthes Disease With Modular Total Hip Arthroplasty. ( 25979188 )
2015
10
Comparative study of serum proteomes in Legg-Calve-Perthes disease. ( 26438379 )
2015
11
Triple osteotomy of the pelvis for Legg-Calve-Perthes disease: a mean fifteen year follow-up. ( 25645439 )
2015
12
Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery. ( 26300943 )
2015
13
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
14
Increased soluble selectins as a reflection of activated platelets and endothelium in Legg-Calve-Perthes disease. ( 25000467 )
2014
15
Evolution in diagnosis and treatment of Legg-Calve-Perthes disease. ( 25207324 )
2014
16
Timing of premature physeal closure in Legg-Calve-Perthes Disease. ( 24916137 )
2014
17
"Femoroacetabular impingement". Legg-Calve-Perthes disease: from childhood to adulthood. ( 25217031 )
2014
18
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
19
Salter pelvic osteotomy in the treatment of Legg-Calve-Perthes disease: the medium-term results. ( 24873086 )
2014
20
Guided growth of the trochanteric apophysis combined with soft tissue release for Legg-Calve-Perthes disease. ( 24563149 )
2014
21
Shelf Acetabuloplasty for Containment in the Early Stages of Legg-Calve-Perthes Disease. ( 24840656 )
2014
22
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
23
Legg-Calve-Perthes disease in two generations of male family members: a case report. ( 24014797 )
2013
24
Diffusion MRI of the neck of the femur in Legg-Calve-Perthes disease: a preliminary study. ( 23206418 )
2013
25
Custom Cementless THA in Patients With Legg-Calve-Perthes Disease. ( 24018160 )
2013
26
Management of Legg-Calve-Perthes disease with acupuncture: a case report. ( 23234840 )
2013
27
A comparison of the effectiveness of surgical and nonsurgical treatment of legg-calve-perthes disease: a review of the literature. ( 22953066 )
2012
28
Combined osteotomy in patients with severe Legg-Calve-Perthes disease. ( 23451451 )
2012
29
Legg-Calve-Perthes disease: etiology, pathogenesis, and biology. ( 21857428 )
2011
30
Legg-Calve-Perthes disease centenary. ( 21857425 )
2011
31
Potential for bisphosphonate treatment in Legg-Calve-Perthes disease. ( 21857436 )
2011
32
Labral support shelf arthroplasty for containment in early stages of Legg-Calve-Perthes disease. ( 21857440 )
2011
33
Transtrochanteric rotational osteotomy for late-onset Legg-Calve-Perthes disease. ( 21857443 )
2011
34
Prognosis and prognostic factors of Legg-Calve-Perthes disease. ( 21857429 )
2011
35
The role of bracing in Legg-Calve-Perthes disease. ( 21857435 )
2011
36
Femoral varus osteotomy in Legg-Calve-Perthes disease. ( 21857437 )
2011
37
Natural history of early onset and late-onset Legg-Calve-Perthes disease. ( 21857430 )
2011
38
Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease. ( 21304409 )
2011
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
Triple pelvic osteotomy in Legg-Calve-Perthes disease using a single anterolateral incision: a 4-year review. ( 20386118 )
2010
42
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
43
Triple pelvic osteotomy in the treatment of Legg-Calve-Perthes disease. ( 19301002 )
2009
44
Systemic effects of zoledronic acid in children with traumatic femoral head avascular necrosis and Legg-Calve-Perthes disease. ( 19446052 )
2009
45
Conservative versus surgical treatment of late-onset Legg-Calve-Perthes disease: a radiographic comparison at skeletal maturity. ( 19308608 )
2009
46
Coxa magna quantification using MRI in Legg-Calve-Perthes disease. ( 18992975 )
2009
47
MRI of Legg-Calve-Perthes disease. ( 19843759 )
2009
48
Thrombomodulin and GFC levels in Legg-Calve-Perthes disease. ( 19055859 )
2008
49
A histological and ultrastructural study of the iliac crest apophysis in Legg-Calve-Perthes disease. ( 18520280 )
2008
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:

71
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 region GO:0005576 9.43 APOH CD40LG COL2A1 F5 SERPINC1 SERPINE1
2 endoplasmic reticulum lumen GO:0005788 9.33 COL2A1 F5 SERPINC1
3 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

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