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LCPD
MCID: LGG001
MIFTS: 60

Legg-Calve-Perthes Disease (LCPD)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Legg-Calve-Perthes Disease

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MalaCards integrated aliases for Legg-Calve-Perthes Disease:

Name: Legg-Calve-Perthes Disease 57 12 53 59 74 37 13 44 15 40 72
Perthes Disease 57 12 53 25 59 74 55
Coxa Plana 12 53 25 29 6 33
Lcpd 57 53 25 74
Juvenile Osteochondrosis of Hip and Pelvis 12 33
Legg-Perthes Disease 57 74
Pseudocoxalgia 12 33
Avascular Necrosis of the Capital Femoral Epiphysis 72
Aseptic Necrosis of the Capital Femoral Epiphysis 59
Osteochondritis of the Capital Femoral Epiphysis 59
Osteochondrosis of the Capital Femoral Epiphysis 59
Juvenile Osteochondrosis of Hip and/or Pelvis 12
Osteochondrosis of Legg-Calve-Perthes 12
Juvenile Osteochond-Hip/pelvis 12
Legg-Calvé-Perthes Syndrome 75
Legg-Calve-Perthes Syndrome 53
Legg-Calve-Perthes Symptom 12
Legg-Calvé-Perthes Disease 25
Osteochondritis Deformans 53
Calve - Perthes' Disease 12
Calve-Perthes Disease 25
Perthe's Disease 12
Lcp 57

Characteristics:

Orphanet epidemiological data:

59
legg-calve-perthes disease
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial


HPO:

32
legg-calve-perthes disease:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:14415
OMIM 57 150600
KEGG 37 H01526
MeSH 44 D007873
NCIt 50 C34766
SNOMED-CT 68 15739006
ICD10 via Orphanet 34 M91.1
UMLS via Orphanet 73 C0023234
Orphanet 59 ORPHA2380
MedGen 42 C0023234
UMLS 72 C0022441 C0023234 C1442965
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Summaries for Legg-Calve-Perthes Disease

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NIH Rare Diseases : 53 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 protein c deficiency. 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 Tocopherol and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include hip joint, bone and testes, 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 : 25 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.

OMIM : 57 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)

KEGG : 37
Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease.

UniProtKB/Swiss-Prot : 74 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 : 75 Legg-Calve-Perthes disease (LCPD, is a childhood hip disorder initiated by a disruption of blood flow to... more...

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Related Diseases for Legg-Calve-Perthes Disease

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Diseases related to Legg-Calve-Perthes Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)
# Related Disease Score Top Affiliating Genes
1 osteonecrosis 31.7 SERPINE1 SERPINC1 COL2A1
2 protein c deficiency 30.6 THBD SERPINC1 F5
3 protein s deficiency 30.5 SERPINC1 F5 APOH
4 pulmonary embolism 29.9 SERPINE1 SERPINC1 F5 APOH
5 purpura 29.9 THBD SERPINC1 APOH
6 thrombophilia 29.8 THBD SERPINE1 SERPINC1 F5 APOH
7 thrombophlebitis 29.7 SERPINE1 SERPINC1 F5 APOH
8 thrombophilia due to thrombin defect 29.4 THBD SERPINE1 SERPINC1 F5 APOH
9 vasculitis 29.0 THBD SELE CD40LG APOH
10 thrombosis 28.3 THBD SERPINE1 SERPINC1 SELP F5 APOH
11 vascular disease 26.9 THBD SERPINE1 SERPINC1 SELP SELE F5
12 antiphospholipid syndrome 26.4 THBD SERPINC1 SELP SELE F5 CD40LG
13 arthrogryposis, perthes disease, and upward gaze palsy 12.7
14 endosteal hyperostosis, autosomal dominant 11.7
15 osteomesopyknosis 11.7
16 avascular necrosis of femoral head, primary, 1 11.7
17 familial avascular necrosis of the femoral head 11.7
18 garret tripp syndrome 11.3
19 avascular necrosis 11.0
20 upington disease 10.9
21 idiopathic avascular necrosis 10.8
22 osteochondrosis 10.7
23 overgrowth syndrome 10.7
24 osteochondritis dissecans 10.6
25 thoracoabdominal syndrome 10.5
26 bone resorption disease 10.5
27 synovitis 10.5
28 osteoarthritis 10.5
29 fibrinolytic defect 10.5 SERPINE1 SERPINC1
30 argentine hemorrhagic fever 10.5 SERPINE1 SERPINC1
31 aspirin allergy 10.5 SERPINE1 SERPINC1
32 marantic endocarditis 10.5 THBD SERPINC1
33 multiple epiphyseal dysplasia 10.4
34 blue toe syndrome 10.4 SERPINE1 SERPINC1
35 sneddon syndrome 10.4 SERPINC1 APOH
36 heparin-induced thrombocytopenia 10.4 SERPINC1 CD40LG
37 fournier gangrene 10.4 SERPINC1 CD40LG
38 hepatic infarction 10.4 SERPINC1 APOH
39 coronary thrombosis 10.3 SERPINE1 SERPINC1
40 spondylolisthesis 10.3
41 gaucher disease, type i 10.3
42 proteasome-associated autoinflammatory syndrome 1 10.3
43 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.3
44 bone disease 10.3
45 gaucher's disease 10.3
46 exostosis 10.3
47 corneal ulcer 10.3
48 hypopituitarism 10.3
49 factor v leiden thrombophilia 10.3
50 kienbock's disease 10.3

Graphical network of the top 20 diseases related to Legg-Calve-Perthes Disease:



Diseases related to Legg-Calve-Perthes Disease
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Symptoms & Phenotypes for Legg-Calve-Perthes Disease

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Human phenotypes related to Legg-Calve-Perthes Disease:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
2 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
6 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 cartilage destruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0100773
8 avascular necrosis 32 hallmark (90%) HP:0010885
9 aseptic necrosis 59 Very frequent (99-80%)
10 avascular necrosis of the capital femoral epiphysis 32 HP:0005743

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 CD40LG COL2A1 F5 PEPD SELE SELP
2 homeostasis/metabolism MP:0005376 10.13 APOH CD40LG COL2A1 F5 PEPD SELE
3 immune system MP:0005387 10.01 CD40LG COL2A1 PEPD SELE SELP SERPINC1
4 hematopoietic system MP:0005397 10 CD40LG PEPD SELE SELP SERPINC1 SERPINE1
5 mortality/aging MP:0010768 9.96 APOH CD40LG COL2A1 F5 PEPD SELE
6 integument MP:0010771 9.91 CD40LG F5 PEPD SELE SELP SERPINE1
7 liver/biliary system MP:0005370 9.87 COL2A1 F5 SELE SELP SERPINC1 SERPINE1
8 nervous system MP:0003631 9.7 CD40LG COL2A1 F5 PEPD SELP SERPINC1
9 renal/urinary system MP:0005367 9.5 CD40LG COL2A1 PEPD SELP SERPINC1 SERPINE1
10 respiratory system MP:0005388 9.02 COL2A1 SELE SELP SERPINE1 THBD
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Drugs & Therapeutics for Legg-Calve-Perthes Disease

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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
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
2
Triamcinolone Approved, Vet_approved 124-94-7 31307
3
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
4 Tocotrienol Investigational 6829-55-6
5 Tocotrienols
6 Tocopherols
7 Vitamins
8 Triamcinolone hexacetonide
9 triamcinolone acetonide
10 Triamcinolone diacetate
11 glucocorticoids
12 Anti-Inflammatory Agents
13 Hormones
14 Immunosuppressive Agents
15 Hormone Antagonists
16 Immunologic Factors
17 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' Disease Completed NCT02676271
3 Lateral Shelf Acetabuloplasty for Treatment of Older Children With Perthes Disease Recruiting NCT03321422
4 Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease Recruiting NCT02040714
5 The Effect of Perthes' Disease on Hip Cartilage Recruiting NCT00958464
6 Validation and Reliability Testing of the Western Ontario and McMaster Osteoarthritis Scale (WOMAC) Hip Score in Children and Adolescents With Perthes Disease Recruiting NCT02795494
7 A Prospective Multi-center Study on E1 Acetabular Liner in THA Active, not recruiting NCT02087449
8 Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density Active, not recruiting NCT02087436
9 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
10 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

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Genetic Tests for Legg-Calve-Perthes Disease

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Genetic tests related to Legg-Calve-Perthes Disease:

# Genetic test Affiliating Genes
1 Coxa Plana 29 COL2A1
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Anatomical Context for Legg-Calve-Perthes Disease

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

19
Hip Joint

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

41
Bone, Testes, Skeletal Muscle, Thyroid, Endothelial, Skin, Bone Marrow
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Publications for Legg-Calve-Perthes Disease

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Articles related to Legg-Calve-Perthes Disease:

(show top 50) (show all 2058)
# Title Authors PMID Year
1
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 38 8 71
17394019 2007
2
Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. 38 8
8047373 1994
3
The role of venous hypertension in the pathogenesis of Legg-Perthes disease. A clinical and experimental study. 38 8
1993714 1991
4
Genetic risks in Perthes' disease. 38 8
963906 1976
5
Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: evidence of polygenic determination. 38 8
5046630 1972
6
Hereditary Legg-Calve-Perthes disease. 38 8
13998760 1963
7
Hereditary Legg-Calve-Perthes' disease. 38 8
20988421 1946
8
Legg-Calve-Perthes disease in two generations of male family members: a case report. 38 6
24014797 2013
9
Type II collagen gene variants and inherited osteonecrosis of the femoral head. 71
15930420 2005
10
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. 8
15179599 2004
11
Non-traumatic avascular necrosis of the femoral head. 8
7890797 1995
12
The early roentgenographic changes in essential coxa plana: their significance in pathogenesis. 8
5659978 1968
13
Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review. 8
13899540 1962
14
Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. 9 38
18978274 2008
15
Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred. 9 38
17878795 2007
16
Legg-perthes disease and heritable thrombophilia. 9 38
15958894 2005
17
Legg-Calve-Perthes disease and thrombophilia. 9 38
15590848 2004
18
The most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation. 9 38
15125132 2004
19
[Congenital disorders of hemostasis in children with Perthes disease]. 9 38
15587376 2004
20
Thrombotic and fibrinolytic alterations in the aseptic necrosis of femoral head. 9 38
12695746 2003
21
Prospective reevaluation of the association between thrombotic diathesis and legg-perthes disease. 9 38
12208918 2002
22
The role of protein C, protein S, and resistance to activated protein C in Legg-Perthes disease. 9 38
11389252 2001
23
[Incidence of thrombophilic factor V Leiden and prothrombin G20210A mutation in Perthes disease--a pilot study]. 9 38
11386104 2001
24
Incidence of thrombophilia in patients with Gaucher disease. 9 38
11146461 2000
25
The role of coagulation abnormalities in the development of Perthes' disease. 9 38
10963178 2000
26
Absence of congenital prethrombotic disorders in children with Legg-Perthes disease. 9 38
10647105 2000
27
Factor V Leiden and other hypercoagulable state mutations are not associated with osteonecrosis during or after treatment for pediatric malignancy. 9 38
10064667 1999
28
The role of inherited thrombotic disorders in the etiology of Legg-Calvé-Perthes disease. 9 38
9890293 1999
29
Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation. 9 38
9602208 1998
30
Decreased levels of IGF binding protein-3 in serum from children with Perthes' disease. 9 38
9602767 1998
31
Resistance to activated protein C and Legg-Perthes disease. 9 38
9170375 1997
32
Skeletal immaturity, IGF-I and IGFBP-3 serum concentrations in Legg-Calvé-Perthes disease (skeletal immaturity, IGF-I and IGFBP-3 in LCPD). 9 38
8962421 1996
33
Normal plasma levels of IGF binding protein in Perthes' disease. Follow-up of previous report. 9 38
7694440 1993
34
Secondary hip dysplasia increases risk for early coxarthritis after Legg-Calve-Perthes disease. A study of 255 hips. 38
31429314 2019
35
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. 38
31104717 2019
36
Greater Trochanter Apophysiodesis in Legg-Calve-Perthes Disease: Which Implant to Choose? 38
31303671 2019
37
The role and underlying mechanisms of microRNA‑214 in Legg‑Calvé‑Perthes disease. 38
31180556 2019
38
Intra- and inter-observer reliability of Laredo classification system in Legg-Calvé-Perthes Disease. 38
30788596 2019
39
[Perfusion magnetic resonance imaging in the treatment of Perthes disease]. 38
31364969 2019
40
Quantitative susceptibility mapping detects neovascularization of the epiphyseal cartilage after ischemic injury in a piglet model of legg-calvé-perthes disease. 38
30556613 2019
41
Validation of Pediatric Self-Report Patient-Reported Outcomes Measurement Information System (PROMIS) Measures in Different Stages of Legg-Calvé-Perthes Disease. 38
31318732 2019
42
Results of 200 Consecutive Ceramic-on-Ceramic Cementless Hip Arthroplasties in Patients Up To 50 Years of Age: A 5-24 Years of Follow-Up Study. 38
30777621 2019
43
[Perthes disease-news in diagnostics and treatment]. 38
31139870 2019
44
Innominate Salter osteotomy using resorbable screws: a retrospective case series and presentation of a new concept for fixation. 38
31312271 2019
45
Preoperative planning of femoral head reduction osteotomy using 3D printing model: A report of two cases. 38
30709647 2019
46
Hip arthroscopy for Legg-Calvè-Perthes disease in paediatric population. 38
30956023 2019
47
Diffusion-weighted MRI for outcome prediction in early Legg-Calvé-Perthes disease: Medium-term radiographic correlations. 38
30962173 2019
48
Direct Lateral Approach for Triple Pelvic Osteotomy. 38
31157758 2019
49
Evaluation of the hip joint contact force in subjects with Perthes based on OpenSIM. 38
30876816 2019
50
Apophysitis and Osteochondrosis: Common Causes of Pain in Growing Bones. 38
31083875 2019
Sources

Variations for Legg-Calve-Perthes Disease

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly1170Ser VAR_023933 rs121912891

Sources

Expression for Legg-Calve-Perthes Disease

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Search GEO for disease gene expression data for Legg-Calve-Perthes Disease.
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Pathways for Legg-Calve-Perthes Disease

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Pathways related to Legg-Calve-Perthes Disease according to KEGG:

37
# 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
Collagen chain trimerization 66
Show member pathways
 12.43 THBD SERPINC1 F5 COL2A1
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.24 THBD SERPINE1 SERPINC1 SELP SELE F5
3
Cell surface interactions at the vascular wall 66
Show member pathways
 11.86 THBD SELP SELE
4
Cell adhesion molecules (CAMs) 37
11.71 SELP SELE CD40LG
5
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.66 THBD SERPINE1 SERPINC1 F5
6
AGE-RAGE signaling pathway in diabetic complications 37
11.5 THBD SERPINE1 SELE
7
Complement and coagulation cascades 37 1
11.4 THBD SERPINE1 SERPINC1 F5
8
Malaria 37
11.12 SELP SELE CD40LG
Sources

GO Terms for Legg-Calve-Perthes Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 SERPINE1 SERPINC1 F5 COL2A1 CD40LG APOH
2 endoplasmic reticulum lumen GO:0005788 9.43 SERPINC1 F5 COL2A1
3 extracellular space GO:0005615 9.28 THBD SERPINE1 SERPINC1 SELP SELE F5
4 collagen-containing extracellular matrix GO:0062023 9.26 SERPINE1 SERPINC1 COL2A1 APOH

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.65 THBD SERPINC1 F5
2 response to lipopolysaccharide GO:0032496 9.63 THBD SELP SELE
3 hemostasis GO:0007599 9.5 THBD SERPINC1 F5
4 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.49 SELP SELE
5 platelet degranulation GO:0002576 9.46 SERPINE1 SELP F5 APOH
6 leukocyte tethering or rolling GO:0050901 9.43 SELP SELE
7 leukocyte cell-cell adhesion GO:0007159 9.43 SELP SELE CD40LG
8 regulation of blood coagulation GO:0030193 9.4 SERPINC1 APOH
9 positive regulation of blood coagulation GO:0030194 9.37 SERPINE1 APOH
10 negative regulation of blood coagulation GO:0030195 9.13 THBD SERPINE1 APOH
11 negative regulation of fibrinolysis GO:0051918 8.8 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 heparin binding GO:0008201 9.33 SERPINC1 SELP APOH
2 sialic acid binding GO:0033691 8.96 SELP SELE
3 oligosaccharide binding GO:0070492 8.62 SELP SELE
Sources

Sources for Legg-Calve-Perthes Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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