Legg-calve-perthes Disease malady

NIH Rare Diseases: Legg-Calve-Perthes disease occurs when the ball of the thighbone in the hip doesn’t get enough blood, causing the bone to die. Early symptoms may include mildly painful limp, pain down the inner thigh to the knee, some restriction of hip movement, pain at extremes of movement, and tenderness over the hip joint. Treatment may include a brief period of bed rest (1 to 3 days) followed by bracing. Rarely bracing may be required for 2 to 3 years. Chance of recovery (prognosis) varies, but tends to be better for younger patients (e.g., less than 6 years of age). Some people with this syndrome go on to develop degenerative arthritis. The cause of the condition is unknown.³⁰

MalaCards: Legg-calve-perthes Disease, also known as perthes disease, is related to thrombophilia and protein c deficiency. An important gene associated with Legg-calve-perthes Disease is AMIGO2 (adhesion molecule with Ig-like domain 2), and among its related pathways are Common Pathway and Intrinsic Prothrombin Activation Pathway. The compounds ascorbic acid and ximelagatran have been mentioned in the context of this disorder. Affiliated tissues include hip joint, and related mouse phenotype liver/biliary system.

Disease Ontology: An osteochondrosis that results in death and fracture located in hip joint.⁶

OMIM: 150600

Aliases & Descriptions:

legg-calve-perthes disease 6 30 8 33 perthes disease 6 30 32 coxa plana 6 30 juvenile osteochondrosis of hip and/or pelvis (disorder) 6 avascular necrosis of the capital femoral epiphysis 43 juvenile osteochondrosis of tibial tubercle 43 juvenile osteochondrosis of hip and pelvis 6 osteochondrosis of legg-calve-perthes 6 juvenile osteochond-hip/pelvis 6

legg-calve-perthes syndrome 30 osteochondritis juvenilis 43 osteochondritis deformans 30 calve - perthes' disease 6 legg-perthes disease 43 perthe's disease 6 calve's disease 43 pseudocoxalgia 6 lcpd 30

Diseases related to legg-calve-perthes disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 122)

id	Related Disease	Score	Top Affiliating Genes
1	thrombophilia	29.9	THBD, COL2A1, F5, SERPINE1, SERPINC1
2	protein c deficiency	26.7	SERPINC1, SERPINE1, F5, THBD
3	collagen disease	13.2	THBD, COL2A1
4	erythromelalgia	13.0	PEPD, THBD
5	amaurosis fugax	12.8	F5, SERPINE1
6	neonatal stroke	12.8	F5, SERPINE1
7	factor xi deficiency	12.8	THBD, F5
8	hepatic vein thrombosis	12.8	F5, SERPINE1
9	thrombotic thrombocytopenic purpura, acquired	12.8	THBD, SERPINE1
10	catastrophic antiphospholipid syndrome	12.7	F5, SERPINE1
11	carotid artery thrombosis	12.6	SERPINE1, SERPINC1
12	carotid intimal medial thickness	12.6	F5, SERPINE1
13	postphlebitic syndrome	12.5	SERPINC1, F5
14	placental infarction	12.5	SERPINC1, F5
15	acquired angioedema	12.5	F5, SERPINC1
16	prothrombin deficiency	12.5	F5, SERPINC1
17	sagittal sinus thrombosis	12.5	F5, SERPINC1
18	spinal cord infarction	12.5	F5, SERPINC1
19	vein disease	12.5	F5, SERPINC1
20	retinal vascular occlusion	12.5	F5, SERPINC1
21	coronary restenosis	12.5	SERPINE1, SERPINC1
22	intracranial thrombosis	12.5	F5, SERPINC1
23	homocysteine plasma level	12.5	SERPINC1, F5
24	hypofibrinogenemia	12.5	SERPINE1, SERPINC1
25	antithrombin iii deficiency	12.4	SERPINC1, F5
26	sneddon syndrome	12.4	F5, SERPINC1
27	purpura fulminans	12.4	F5, SERPINC1
28	factor xii deficiency	12.4	SERPINC1, F5
29	thrombophlebitis	12.4	F5, SERPINC1
30	peripheral arterial occlusive disease	12.4	THBD, F5, SERPINE1
31	factor vii deficiency	12.4	F5, SERPINC1
32	factor viii deficiency	12.3	F5, SERPINC1
33	primary pulmonary hypertension	12.3	SERPINE1, F5, THBD
34	patent foramen ovale	12.3	F5, SERPINC1
35	intermittent claudication	12.2	SERPINC1, SERPINE1, THBD
36	cerebral palsy	12.2	THBD, F5, AMIGO2, SERPINE1
37	hemolytic-uremic syndrome	12.1	SERPINC1, SERPINE1, THBD
38	dysfibrinogenemia	12.1	THBD, F5, SERPINC1
39	hemorrhagic disease	12.1	SERPINC1, F5, THBD
40	homocystinuria	12.1	THBD, F5, SERPINC1
41	placental abruption	12.1	THBD, F5, SERPINC1
42	familial mediterranean fever	12.0	THBD, SERPINE1, SERPINC1
43	central retinal artery occlusion	12.0	F5, SERPINE1, SERPINC1
44	thrombocytosis	12.0	SERPINC1, F5, THBD
45	central retinal vein occlusion	12.0	F5, SERPINE1, SERPINC1
46	coronary thrombosis	12.0	SERPINC1, SERPINE1, F5
47	retinal artery occlusion	12.0	SERPINC1, SERPINE1, F5
48	intracranial hypertension	12.0	F5, SERPINE1, SERPINC1
49	acromegaly	12.0	SERPINC1, SERPINE1, THBD
50	portal vein thrombosis	12.0	SERPINC1, SERPINE1, F5

Clinical features from OMIM: 150600

Approved drugs:

Drug clinical trials:

FMA organs/tissues related to legg-calve-perthes disease:

¹¹

MGI Mouse Phenotypes related to legg-calve-perthes disease:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	7.4	SERPINC1, SERPINE1, F5, COL2A1, PHIP, THBD

Articles related to legg-calve-perthes disease:

id	Title	Authors	Year	Affiliating Genes
1	Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease. (21304409)	Altay M.A.... Isikan U.E.	2011	PEPD
2	Thrombomodulin and GFC levels in Legg-Calve-Perthes disease. (19055859)	Aksoy M.C.... Alpaslan M.	2008	THBD
3	Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. (18512791)	Su P.... Wang Y.	2008	COL2A1
4	A recurrent mutation in type II collagen gene causes Legg-Calve- Perthes disease in a Japanese family. (17394019)	Miyamoto Y.... Ikegawa S.	2007	COL2A1
5	Legg-Calve-Perthes disease, venous and arterial throm bi, and the factor V Leiden mutation in a four-generation kindred. (17878795)	Glueck C.J.... Wang P.	2007	F5
6	Legg-Calve-Perthes disease and thrombophilia. (15590848)	Balasa V.V.... Crawford A.H.	2004	SERPINE1, SERPINC1, F5

Genes related to legg-calve-perthes disease according to GeneCards:

(show all 15)

id	Symbol	Description	Score	GeneCards Section Context
1	AMIGO2	adhesion molecule with Ig-like domain 2	11.1
2	RAB3IL1	RAB3A interacting protein (rabin3)-like 1	11.1
3	KLHDC2	kelch domain containing 2	11.1
4	COL2A1	collagen, type II, alpha 1	11.1	Publications
5	ACTG2	actin, gamma 2, smooth muscle, enteric	11.1
6	TCERG1	transcription elongation regulator 1	11.1
7	AKR1C1	aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)	11.1
8	STAG2	stromal antigen 2	11.1	Disorders
9	PHIP	pleckstrin homology domain interacting protein	11.1	Disorders
10	PEPD	peptidase D	11.1	Publications
11	THBD	thrombomodulin	11.1	Publications
12	SERPINE1	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	11.1	Publications
13	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	11.1	Publications
14	F5	coagulation factor V (proaccelerin, labile factor)	11.1	Publications
15	ERC1	ELKS/RAB6-interacting/CAST family member 1	11.1

Pathways related to legg-calve-perthes disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Common Pathway38	9.0	SERPINC1, F5
2	Intrinsic Prothrombin Activation Pathway36	8.3	THBD, COL2A1, F5, SERPINC1
3	Extrinsic Prothrombin Activation Pathway36	8.3	SERPINC1, F5, THBD
4	Blood Coagulation Cascade36	8.2	THBD, COL2A1, F5, SERPINC1
5	Blood Coagulation Signaling Pathways37	8.2	SERPINC1, SERPINE1, F5, THBD
6	Complement and coagulation cascades20	8.1	THBD, F5, SERPINE1, SERPINC1

Compounds related to legg-calve-perthes disease according to GeneDecks:

(show top 50)    (show all 56)

id	Compound	Score	Top Affiliating Genes
1	ascorbic acid32 18	11.5	COL2A1
2	ximelagatran32 9 9	12.3	SERPINC1
3	sarpogrelate hydrochloride32	9.8	THBD, SERPINC1
4	paricalcitol32 9 9	11.8	SERPINE1, THBD
5	fibrinopeptide a32	9.7	THBD, SERPINC1
6	11-dehydrothromboxane b232	9.7	THBD, SERPINE1
7	eaca32	9.7	SERPINE1, SERPINC1
8	p-amino benzamidine32	9.6	SERPINE1, SERPINC1
9	tranexamic acid32 9 9	11.4	SERPINE1, SERPINC1
10	batroxobin32	9.4	F5, SERPINE1
11	inogatran32	9.4	F5, SERPINC1
12	ecarin32	9.4	SERPINC1, F5
13	spectrozyme32	9.4	SERPINC1, F5
14	nafamostat mesilate32	9.4	F5, SERPINC1
15	danaparoid32	9.4	F5, SERPINC1
16	desogestrel32 9 9	11.2	F5, SERPINC1
17	gabexate mesilate32	9.2	F5, SERPINC1
18	glycosaminoglycan32	9.1	THBD, COL2A1, SERPINC1
19	Drotrecogin alfa9 9	10.1	THBD, F5, SERPINE1
20	ulinastatin32	9.1	SERPINC1, THBD
21	mycophenolate mofetil32 9 9	11.1	THBD, F5, SERPINE1
22	gestodene32 9 9	11.0	SERPINC1, F5
23	hirugen32	9.0	THBD, F5, SERPINC1
24	heparinoids32	9.0	SERPINC1, F5, THBD
25	fondaparinux32	9.0	THBD, F5, SERPINC1
26	bivalirudin32 9 9	11.0	THBD, F5, SERPINC1
27	argatroban32 9 9	11.0	SERPINC1, F5, THBD
28	benzamidine32 9 9	11.0	SERPINC1, F5, THBD
29	chloramphenicol32 9 9	11.0	SERPINC1, SERPINE1, COL2A1, THBD
30	dermatan sulfate32	8.9	THBD, F5, SERPINC1
31	protamine sulfate32	8.9	SERPINC1, F5
32	pge132	8.9	SERPINE1, F5, THBD
33	warfarin32 34 9 18 9	12.9	THBD, F5, SERPINC1
34	tibolone32	8.9	F5, SERPINE1, SERPINC1
35	protamine32	8.9	F5, SERPINE1, SERPINC1
36	polyethylene glycol32	8.8	THBD, F5, SERPINC1
37	atorvastatin32 34 9 18 9	12.7	SERPINE1, F5, THBD
38	raloxifene32 9 9	10.6	SERPINC1, F5, THBD, PEPD
39	progestin32	8.6	AKR1C1, F5, SERPINE1, SERPINC1
40	ancrod32	8.5	SERPINC1, SERPINE1, F5, THBD
41	desmopressin32 42 9 9	11.5	SERPINC1, SERPINE1, F5, THBD
42	hirudin32	8.5	THBD, F5, SERPINE1, SERPINC1
43	kininogen32	8.5	THBD, F5, SERPINE1, SERPINC1
44	aprotinin32 9 9	10.5	THBD, F5, SERPINE1, SERPINC1
45	homocysteine32 18	9.5	SERPINC1, SERPINE1, F5, THBD
46	prostacyclin32	8.4	SERPINC1, SERPINE1, F5, THBD
47	fibrinogen32	8.3	SERPINC1, SERPINE1, F5, THBD
48	aspirin32 34 18	10.1	SERPINC1, SERPINE1, F5, THBD, PEPD
49	creatinine32	8.0	PEPD, THBD, F5, SERPINE1, SERPINC1
50	estrogen32	7.6	PEPD, THBD, AKR1C1, F5, SERPINE1, SERPINC1

Cellular components related to legg-calve-perthes disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	7.8	SERPINC1, SERPINE1, F5, COL2A1, THBD

Biological processes related to legg-calve-perthes disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of blood coagulation	GO:030195	9.5	SERPINE1, THBD
2	negative regulation of fibrinolysis	GO:051918	9.2	SERPINE1, THBD

Molecular functions related to legg-calve-perthes disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	6.0	SERPINC1, TCERG1, THBD, PHIP, ERC1, F5