GRNG
MCID: GRN034
MIFTS: 55

Grange Syndrome (GRNG)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Grange Syndrome

MalaCards integrated aliases for Grange Syndrome:

Name: Grange Syndrome 56 25 58 73 36 6
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 56 25 73 71
Grange Occlusive Arterial Syndrome 56 25 58 73
Grng 56 25 73
Progressive Arterial Occlusive Disease-Hypertension-Heart Defects-Bone Fragility-Brachysyndactyly Syndrome 58
Arterial Occlusive Diseases 43

Characteristics:

Orphanet epidemiological data:

58
grange syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
grange syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Grange Syndrome

Genetics Home Reference : 25 Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart. Stenosis or occlusion of the arteries that supply blood to the kidneys (renal arteries) can result in chronic high blood pressure (hypertension). Blockage of the arteries that carry blood to the brain (cerebral arteries) can cause a stroke. Additional features of Grange syndrome can include short fingers and toes (brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile bones that are prone to breakage, and learning disabilities. Most people with this disorder also have heart defects that are present from birth.

MalaCards based summary : Grange Syndrome, also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, is related to fibromuscular dysplasia and peripheral vascular disease. An important gene associated with Grange Syndrome is YY1AP1 (YY1 Associated Protein 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Folate Metabolism. The drugs Cilostazol and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are specific learning disability and increased susceptibility to fractures

KEGG : 36 Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome.

UniProtKB/Swiss-Prot : 73 Grange syndrome: An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities.

More information from OMIM: 602531

Related Diseases for Grange Syndrome

Diseases related to Grange Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 30.9 YY1AP1 YY1 INO80
2 peripheral vascular disease 30.6 VWF VCAM1 THBD SELP SELE PLAT
3 raynaud phenomenon 30.6 VWF THBD
4 carotid artery occlusion 30.4 THBD PLAT
5 buerger disease 30.3 SELE MTHFR
6 limb ischemia 30.2 VWF SELE PLAT CCL2
7 branch retinal artery occlusion 30.1 MTHFR F3
8 carotid stenosis 29.9 VCAM1 SELP SELE MTHFR
9 homocystinuria 29.9 THBD MTHFR CBS
10 cardiac arrest 29.7 THBD SELP SELE
11 platelet aggregation, spontaneous 29.6 VWF SELP PLAT
12 thrombophilia due to thrombin defect 29.6 THBD PLAT MTHFR F3
13 moyamoya disease 1 29.6 VWF MTHFR F3
14 protein s deficiency 29.6 THBD MTHFR F3
15 retinal vascular disease 29.5 VCAM1 MTHFR CCL2
16 chronic venous insufficiency 29.5 VCAM1 SELP PLAT MTHFR
17 cardiac tamponade 29.4 PLAT F3
18 coronary heart disease 1 29.0 VWF VCAM1 SELP SELE PLAT MTHFR
19 venous insufficiency 29.0 VWF VCAM1 SELP PLAT MTHFR
20 thrombocytosis 29.0 VWF SELP F3
21 homocysteinemia 28.8 VWF VCAM1 THBD MTHFR CCL2 CBS
22 proteasome-associated autoinflammatory syndrome 1 28.8 VCAM1 SELP SELE CCL2
23 purpura 28.6 VWF THBD SELP F3
24 thrombophlebitis 28.6 VWF SELP PLAT MTHFR F3
25 thrombophilia due to activated protein c resistance 28.5 VWF THBD PLAT MTHFR F3
26 diabetic angiopathy 28.5 VWF THBD SELE MTHFR CCL2
27 arteriosclerosis 28.4 VCAM1 THBD SELP SELE F3 CCL2
28 stroke, ischemic 28.4 VWF THBD SELP PLAT MTHFR F3
29 post-thrombotic syndrome 28.3 VCAM1 PLAT F3 CCL2
30 thrombophilia 28.3 VWF THBD SELP PLAT MTHFR F3
31 essential thrombocythemia 28.2 VWF THBD SELP MTHFR F3
32 carotid artery disease 28.2 THBD SELP SELE PLAT F3 CCL2
33 cerebrovascular disease 28.1 VWF VCAM1 THBD SELP SELE PLAT
34 intermediate coronary syndrome 28.1 VWF VCAM1 SELP PLAT F3
35 vasculitis 28.1 VWF VCAM1 THBD SELP SELE CCL2
36 peripheral artery disease 28.1 VWF VCAM1 THBD SELP F3 CCL2
37 coronary artery anomaly 28.0 VCAM1 SELP SELE PLAT F3 CCL2
38 pulmonary artery disease 27.9 VWF THBD SELP PLAT MTHFR F3
39 takayasu arteritis 27.8 VWF VCAM1 THBD SELE F3
40 kidney disease 27.5 VWF VCAM1 THBD MTHFR F3 CCL2
41 pulmonary hypertension 27.5 VWF THBD SELP PLAT F3 CCL2
42 arteries, anomalies of 27.5 VWF VCAM1 SELP SELE PLAT F3
43 thrombocytopenia 26.9 VWF THBD SELP SELE PLAT F3
44 systemic lupus erythematosus 26.9 VWF VCAM1 THBD SELP SELE F3
45 antiphospholipid syndrome 26.7 VWF VCAM1 THBD SELP SELE PLAT
46 thrombosis 26.7 VWF VCAM1 THBD SELP SELE PLAT
47 atherosclerosis susceptibility 26.6 VWF VCAM1 THBD SELP SELE PLAT
48 heart disease 26.4 VWF VCAM1 SELP SELE PLAT MTHFR
49 vascular disease 26.4 VWF VCAM1 THBD SELP SELE PLAT
50 cardiovascular system disease 26.3 VWF VCAM1 THBD SELP SELE PLAT

Graphical network of the top 20 diseases related to Grange Syndrome:



Diseases related to Grange Syndrome

Symptoms & Phenotypes for Grange Syndrome

Human phenotypes related to Grange Syndrome:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
2 increased susceptibility to fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002659
3 intellectual disability, borderline 58 31 hallmark (90%) Very frequent (99-80%) HP:0006889
4 arterial stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100545
5 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
6 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
7 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
8 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
9 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
10 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
11 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
12 coronary artery stenosis 31 occasional (7.5%) HP:0005145
13 intellectual disability 31 HP:0001249
14 brachydactyly 31 HP:0001156
15 recurrent fractures 31 HP:0002757
16 renovascular hypertension 31 HP:0100817
17 decreased body weight 31 HP:0004325
18 finger clinodactyly 31 HP:0040019
19 renal artery stenosis 31 HP:0001920
20 carotid artery stenosis 31 HP:0100546

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
syndactyly
fifth-finger clinodactyly
phalangeal dysplasia (primarily middle phalanx)

Cardiovascular Vascular:
renovascular hypertension
renal artery stenosis
occlusive arterial vascular disease
beaded appearance of arteries (in some patients)
arterial aneurysms (in some patients)
more
Neurologic Central Nervous System:
mental retardation, mild to moderate
ischemic cerebrovascular disease (in some patients)
hemorrhagic cerebrovascular disease (rare)

Cardiovascular Heart:
coronary artery stenosis (in some patients)
bicuspid aortic valve (in some patients)

Skeletal Feet:
brachydactyly
syndactyly

Growth Weight:
low weight

Skeletal:
bone fragility
reduced mineralization

Skeletal Limbs:
multiple fractures (with minimal trauma)

Clinical features from OMIM:

602531

GenomeRNAi Phenotypes related to Grange Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 9.55 YY1
2 Decreased NANOG protein expression GR00184-A-6 9.55 VWF
3 Decreased NANOG protein expression GR00184-A-8 9.55 CCL2 VWF YY1
4 Decreased OCT4 protein expression GR00184-A-2 9.5 CCL2 YY1
5 Decreased OCT4 protein expression GR00184-A-5 9.5 VWF YY1
6 Decreased OCT4 protein expression GR00184-A-7 9.5 CCL2 VWF YY1
7 Decreased POU5F1-GFP protein expression GR00184-A-1 9.1 CCL2 VWF YY1
8 Decreased POU5F1-GFP protein expression GR00184-A-4 9.1 CCL2 VWF YY1

MGI Mouse Phenotypes related to Grange Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 F3 INO80 PLAT SELE SELP THBD
2 cardiovascular system MP:0005385 10.03 F3 INO80 PLAT SELE SELP THBD
3 growth/size/body region MP:0005378 10.02 F3 INO80 MTHFR PLAT SELE SELP
4 homeostasis/metabolism MP:0005376 10.02 F3 INO80 MTHFR PLAT SELE SELP
5 immune system MP:0005387 9.91 CCL2 F3 PLAT SELE SELP THBD
6 integument MP:0010771 9.7 F3 MTHFR PLAT SELE SELP THBD
7 mortality/aging MP:0010768 9.65 F3 INO80 MTHFR PLAT SELE SELP
8 respiratory system MP:0005388 9.1 F3 PLAT SELE SELP THBD YY1

Drugs & Therapeutics for Grange Syndrome

Drugs for Grange Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 183)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2
Pravastatin Approved Phase 4 81093-37-0 54687
3
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
4
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
5
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
6
Clonidine Approved Phase 4 4205-90-7 2803
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
9
Dalteparin Approved Phase 4 9005-49-6
10
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
11
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
12
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
13
Metformin Approved Phase 4 657-24-9 14219 4091
14
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
15 Hypolipidemic Agents Phase 4
16 Anticholesteremic Agents Phase 4
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
18 Antimetabolites Phase 4
19 Lipid Regulating Agents Phase 4
20 Blood Substitutes Phase 4
21 Rosuvastatin Calcium Phase 4 147098-20-2
22 Neurotransmitter Agents Phase 4
23 Antihypertensive Agents Phase 4
24 Adrenergic Agonists Phase 4
25 Adrenergic alpha-2 Receptor Agonists Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Adrenergic Agents Phase 4
28 Triiodobenzoic Acids Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Anti-Inflammatory Agents, Non-Steroidal Phase 4
31 Antipyretics Phase 4
32 Cyclooxygenase Inhibitors Phase 4
33 Anesthetics, Local Phase 4
34 Autonomic Agents Phase 4
35 Sympatholytics Phase 4
36 Fibrinolytic Agents Phase 4
37 Anticoagulants Phase 4
38 calcium heparin Phase 4
39 Trace Elements Phase 4
40 Micronutrients Phase 4
41 Nutrients Phase 4
42 Heparin, Low-Molecular-Weight Phase 4
43 Calcium, Dietary Phase 4
44 Tranquilizing Agents Phase 4
45 Anti-Anxiety Agents Phase 4
46 Psychotropic Drugs Phase 4
47 Central Nervous System Depressants Phase 4
48 Analgesics Phase 4
49 Hypoglycemic Agents Phase 4
50 insulin Phase 4

Interventional clinical trials:

(show top 50) (show all 212)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Therapeutic Used Study to Evaluate the Efficacy and Safety of Pletaal SR Capsule (Cilostazol) in Subjects With Peripheral Arterial Disease Symptom Due to Chronic Occlusive Arterial Disease Unknown status NCT01711333 Phase 4 Pletaal SR capsule
2 The Study to Compare the Treatment of Stent and Prothesis Bypass in SFA Occlusions Unknown status NCT01147419 Phase 4
3 The Effects of Pravastatin and Rosuvastatin on the Tissue Characteristics and Morphology of Coronary Plaques in Patients With Stable Angina Pectoris Unknown status NCT01325818 Phase 4 pravastatin, rosuvastatin
4 A Clinical Study of Gadoteric Acid in Non-Coronary Magnetic Resonance (MR) Completed NCT00447889 Phase 4 gadoteric acid
5 YUKON-drug-eluting Stent Below The Knee - Prospective Randomized Double-blind Multicenter Study Completed NCT00664963 Phase 4
6 The Effect of High Dose Arginine Infusion on Hemodynamic and Peripheral Microcirculation: a Randomized, Controlled Clinical Trial in Patients Receiving Peripheral Vascular Surgery Completed NCT01682889 Phase 4
7 A Phase IV Pilot Study to Compare ISOVUE®-250 and VISIPAQUE™ 270 for Motion Artifact and Pain in Peripheral Digital Subtraction Angiography (DSA) Completed NCT00740207 Phase 4 VISIPAQUE 270;Isovue 250
8 CLIMB Prospective Multicenter Registry Evaluating the Use of the PolarCath Peripheral Dilatation System (Boston Scientific) in the Treatment of Infrapopliteal Lesions in Patients With Critical Limb Ischemia (Rutherford 4 and 5). Completed NCT00459888 Phase 4
9 A Clinical Investigation of the SMART™ Nitinol Self-Expandable Stent Versus Balloon Angioplasty Only for the Treatment of SUPERficial Femoral Artery Occlusions Completed NCT00232843 Phase 4
10 A Single Center, Randomized, Open Label, Multiple Dose, Crossover Study of the Antiplatelet Effects of Ticagrelor Versus Clopidogrel in American Indian Patients With Stable Coronary Artery Disease Completed NCT01706510 Phase 4 Ticagrelor;Clopidogrel
11 Multinational, Prospective, Randomized, Double-Blind, Placebo-Controlled, Parallel Groups Study to Assess the Efficacy and Safety of Prostaglandin E1 in Subjects With Critical Limb Ischemia (Fontaine Stage IV) Completed NCT00596752 Phase 4 Alprostadil
12 A Clinical Investigation of the Cordis S.M.A.R.T. ™ CONTROL ™ Nitinol Stent System Versus the Bard® Luminexx™ 6F Vascular Stent for the Treatment of TASC C & D Superficial Femoral Artery Long Lesions Completed NCT00235131 Phase 4
13 Pharmacogenomics of Antiplatelet Response - II Completed NCT01894555 Phase 4 Aspirin
14 A Phase IV Multi-Center Study to Compare ISOVUE -250 and VISIPAQUE 270 for Motion Artifact and Pain in Peripheral Digital Subtraction Angiography (DSA) Completed NCT01075217 Phase 4 iopamidol;iodixanol
15 A Multi-Center Prospective, Randomized, Two-Arm Clinical Investigation of the Cordis SMARTTM Nitinol Self Expandable Stent Versus Balloon Angioplasty Only for the Treatment of Superficial Femoral Artery Occlusions. Completed NCT00309595 Phase 4
16 The Effect of Angioplasty in Peripheral Arterial Disease on Endothelial Function Completed NCT00660634 Phase 4
17 Interest of a Bi-truncal Nerve Block (Femoral + Sciatic) Extended, Systematically Associated With General Anesthesia, in the Femoropopliteal Bypass: Study of Post-operative Analgesia and Peripheral Circulation Downstream. Completed NCT01785693 Phase 4 levobupivacaine, clonidine
18 A Prospective, Randomized, Open-label Study to Evaluate the Effect of LOW-molecular-weight Heparin in Reducing Radial Artery Occlusion Rate After Transradial Coronary Catheterization Procedures Recruiting NCT04196309 Phase 4 low molecular weight heparin
19 Impact of Intravenous Iron Treatment of Preoperative Anemia in Patients With Lower Extremity Peripheral Artery Disease Recruiting NCT04083755 Phase 4 Ferric Carboxymaltose Injection [Injectafer]
20 A Clinical Investigation of the SMART™ Nitinol Self-Expandable Stent Versus Balloon Angioplasty for the Treatment of Superficial Femoral Artery Occlusions Terminated NCT00289055 Phase 4
21 Comparison of Primary Patency Between GORE PROPATEN Vascular Graft and Disadvantaged Autologous Vein Graft For Below-Knee Arterial Bypass (PRODIGY Study) Terminated NCT00617279 Phase 4
22 Determination of Diagnostic Accuracy and Added Value of Vasovist®-Enhanced Peripheral MRA in Comparison to Intra-arterial Digital Subtraction Angiography (i.a. DSA) in Patients With Peripheral Artery Disease Terminated NCT00717639 Phase 4
23 Pregabalin for Pain Reduction in Critical Limb Ischemia - A Double Blind, Randomized Controlled Study Terminated NCT00403780 Phase 4 pregabalin;placebo
24 Randomised, Double-Blind, Placebo-Controlled, Parallel-Group Study of Metformin for the Assessment of Changes in Functional Capacity, Endothelial Function, and Hemodynamics in Individuals With Peripheral Artery Disease-Related Intermittent Claudication Terminated NCT01799057 Phase 4 Metformin;Placebo
25 ATHERO: Advanced Technology Halting Early Re-Stenosis and Occlusion. A Prospective Randomized Trial Comparing Silverhawk™ Atherectomy to CryoPlasty® Therapy for Lower Extremity Claudication Withdrawn NCT00407940 Phase 4
26 ReoPro and Peripheral Arterial Intervention to Improve Clinical Outcome in Patients With Peripheral Arterial Disease – A Randomized Prospective Trial (RIO-Trial) Unknown status NCT00156611 Phase 2, Phase 3 ReoPro
27 Local Taxan With Short Time Contact for Reduction of Restenosis in Distal Arteries (Thunder – Trial) Unknown status NCT00156624 Phase 2, Phase 3 Balloon Angioplasty with or without drug administration
28 Comparative Study Between Systemic Analgesia and Continuous Sciatic Nerve Block in Patients With Chronic Obstructive Arterial Disease and Ischemic Pain in Lower Limbs Unknown status NCT02841488 Phase 3 Fentanyl;Ropivacaine
29 The Carotid and Middle Cerebral Artery Occlusion Surgery Study Unknown status NCT01758614 Phase 3 Aspirin;Clopidogrel
30 Security and Effectiveness of Autologous Bone Marrow Stem Cell Transplantation to Avoid Amputations in Patients With Limb-threatening Ischemia: A Multicentric Randomized Placebo-controlled Double-blind Study Unknown status NCT00434616 Phase 2, Phase 3
31 Heparin Bonded and Collagen Coated Polyester or Human Umbilical Vein for Femoropopliteal Bypass: a Prospective Randomised Multicentre Trial. Completed NCT00523263 Phase 3
32 A Double-blind, Randomized Study of Clopidogrel 75 mg/d vs Placebo, on a Background of ASA 75-100 mg/d,in Peripheral Arterial Disease (PAD) Patients Receiving a Unilateral Below Knee Bypass Graft. Completed NCT00174759 Phase 3 Clopidogrel
33 Phase 3, Multicenter, Multi-National, Randomized, Partial Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Alfimeprase in Subjects With Acute Peripheral Arterial Occlusion Completed NCT00115999 Phase 3 alfimeprase
34 Multi Center Combined Non-invasive Coronary Angiography and Myocardial Perfusion Imaging Using 320-Detector Computed Tomography Completed NCT00934037 Phase 3
35 Etude préliminaire Sur l'efficacité Aigue du Sildenafil Sur le Temps de Marche Chez Les Patients Atteints d'AOMI de Stade II présentant Une Claudication artérielle Completed NCT02832570 Phase 3 Sildenafil 100mg single oral dose;Placebo, Oral intake single dose
36 Prospective, Multicenter, Non-randomized Clinical Trial Investigating the Safety and Efficacy of the AngioSculpt Scoring Balloon Catheter (AngioScore, Inc.) for the Treatment of Femoropopliteal Stenotic Disease. Completed NCT00619788 Phase 2, Phase 3
37 A Randomized, International, Multicenter, Parallel Group, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of Actovegin 12-Week Treatment Given First Intravenously and Subsequently Orally in Subjects With Peripheral Arterial Occlusive Disease Fontaine Stage IIB Completed NCT03469349 Phase 3 Actovegin;Placebo
38 Infrapopliteal Drug Eluting Angioplasty Versus Stenting for the Treatment of Long-segment Arterial Disease: The IDEAS-I Randomized Controlled Trial. Completed NCT01517997 Phase 2, Phase 3
39 Evaluation of the Effect of AMR101 on Cardiovascular Health and Mortality in Hypertriglyceridemic Patients With Cardiovascular Disease or at High Risk for Cardiovascular Disease: REDUCE-IT (Reduction of Cardiovascular Events With EPA - Intervention Trial) Completed NCT01492361 Phase 3 AMR101;Placebo
40 A Multicentre, Phase 3, Open-Label Study to Assess the Efficacy and Safety of 0.1 mmol/kg Omniscan (Gadodiamide Injection) for Magnetic Resonance Angiography (MRA) of the Aorto-iliac Arteries Completed NCT00209443 Phase 3 Gadodiamide Injection
41 Cholesterol-Lowering Atherosclerosis Study (CLAS) Completed NCT00000599 Phase 3 colestipol;niacin
42 The Contribution of Inflammation and Insulin Resistance to Intermittent Claudication Completed NCT00153166 Phase 2, Phase 3 atorvastatin and pioglitazone;atorvastatin/placebo;pioglitazone/placebo;placebo/placebo
43 Intravenous Prostaglandin E1 Treatment in Outpatients With Intermittent Claudication Completed NCT01263925 Phase 3 Alprostadil (Prostaglandin E1);Pentoxifylline;Placebo to Pentoxifylline oral;Placebo to Alprostadil (Prostaglandin E1) intravenous
44 A Phase III, Multi-Center Randomized, Double-Blind, Placebo-Controlled Trial of the Ex Vivo Treatment With CGT003 of Peripheral Vein Grafts in Patients Undergoing Peripheral Arterial Bypass Graft Procedures Completed NCT00041925 Phase 2, Phase 3 CGT003 (E2F Duplex Decoy)
45 A Prospective, Multicenter, Single Arm Study to Obtain Additional Data on the Safety and Efficacy of the Express Vascular LD Implantation in the Treatment of Stenosed or Occlusive Atherosclerotic Disease in Iliac Arteries Completed NCT00352222 Phase 3
46 Arterial Disease Multifactorial Intervention Trial (ADMIT) Completed NCT00000539 Phase 3 niacin;pravastatin;beta-carotene;vitamin E;vitamin C;warfarin
47 A Phase III Randomized, Blind, Double Dummy, Multicenter Study Assessing the Efficacy and Safety of IV THrombolysis (Alteplase) in Patients With acutE Central retInal Artery Occlusion Recruiting NCT03197194 Phase 3 Alteplase;acetylsalicylic acid;Placebo Oral Tablet;placebo IV
48 The Value of Screening for "High on Treatment Platelet Reactivity" in Patients Undergoing Lower Extremity Arterial Endovascular Interventions Recruiting NCT04007055 Phase 3 Ticagrelor 90mg
49 Rivaroxaban Post-Transradial Access for the Prevention of Radial Artery Occlusion Recruiting NCT03630055 Phase 3 Rivaroxaban 15 MG Oral Tablet [Xarelto]
50 A Multicentric Open-label Randomized Controlled Study for Evaluating the Improvement of Endothelial Function in Stage II Peripheral Arterial Obstructive Disease Patients Treated With Sulodexide + Conventional Treatment {CT] Vs CT Alone Active, not recruiting NCT03370705 Phase 3 Sulodexide;Statin;Antiplatelet Agents;ACE inhibitor

Search NIH Clinical Center for Grange Syndrome

Cochrane evidence based reviews: arterial occlusive diseases

Genetic Tests for Grange Syndrome

Anatomical Context for Grange Syndrome

MalaCards organs/tissues related to Grange Syndrome:

40
Bone, Heart, Kidney, Bone Marrow, Brain, Endothelial, Eye

Publications for Grange Syndrome

Articles related to Grange Syndrome:

(show all 40)
# Title Authors PMID Year
1
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. 61 56 6
27939641 2017
2
A new case of Grange syndrome without cardiac findings. 61 56 6
16691574 2006
3
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? 61 56 6
11241488 2001
4
Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. 56 6
9489789 1998
5
Schottky Barrier Variable Graphene/Multilayer-MoS2 Heterojunction Transistor Used to Overcome Short Channel Effects. 61
31855598 2020
6
Grange syndrome due to homozygous YY1AP1 missense rare variants. 61
31633303 2019
7
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. 61
31270375 2019
8
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. 61
30556293 2019
9
Biological function analysis of monoclonal antibodies against human granulins in vitro using U251 cells as a model. 61
27693922 2017
10
Mixed-grass prairie canopy structure and spectral reflectance vary with topographic position. 61
22961614 2012
11
Grange syndrome: an identifiable cause of stroke in young adults. 61
22987684 2012
12
Role of ICAM-1 and E-selectin gene polymorphisms in pathogenesis of PAOD in Egyptian patients. 54
20191078 2010
13
Role of von Willebrand factor in vascular disease. 54
19151843 2009
14
Polymorphism in the methylenetetrahydrofolate reductase (C677T) gene and homocysteine levels: a comparison in Brazilian patients with coronary arterial disease, ischemic stroke and peripheral arterial obstructive disease. 54
18040753 2009
15
Vasculitis mimics. 61
18281854 2008
16
Andrographolide inhibits NF-kappaBeta activation and attenuates neointimal hyperplasia in arterial restenosis. 54
17943075 2007
17
Early endothelial and haematological response to cryoplasty compared with balloon angioplasty of the superficial femoral artery--a pilot study. 54
17202198 2007
18
Circulating markers of endothelial function in cardiovascular disease. 54
16530177 2006
19
Double jeopardy: how soluble P-selectin activates leukocytes in peripheral arterial occlusive disease. 54
16397153 2006
20
Elevated soluble cell adhesion molecules E-selectin and intercellular cell adhesion molecule-1 in type-2 diabetic patients with and without asymptomatic peripheral arterial disease. 54
15507889 2004
21
Reteplase monotherapy and reteplase/abciximab combination therapy in peripheral arterial occlusive disease: results from the RELAX trial. 54
15028807 2004
22
Clot lysis in a primate model of peripheral arterial occlusive disease with use of systemic or intraarterial reteplase: addition of abciximab results in improved vessel reperfusion. 54
14963184 2004
23
Modulation of collateral artery growth in a porcine hindlimb ligation model using MCP-1. 54
12505873 2003
24
The safety, efficacy, and pharmacoeconomics of low-dose alteplase compared with urokinase for catheter-directed thrombolysis of arterial and venous occlusions. 54
12618684 2003
25
Intravenous prostaglandin E1 reduces monocyte chemoattractant protein-1 levels in peripheral arterial obstructive disease. 54
12595852 2003
26
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. 54
12529702 2003
27
Initial experience with the combination of reteplase and abciximab for thrombolytic therapy in peripheral arterial occlusive disease: a pilot study. 54
11788692 2002
28
Intravenous prostaglandin E1 reduces soluble vascular cell adhesion molecule-1 in peripheral arterial obstructive disease. 54
11579367 2001
29
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. 54
11528503 2001
30
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia. 54
11057853 2000
31
Elevated levels of soluble E-selectin in diabetic patients with severe symptomatic peripheral arterial occlusive disease requiring angioplasty. A possible role in diabetic vascular disease? 54
10905802 2000
32
Initial results of reteplase in the treatment of acute lower extremity arterial occlusions. 54
10735421 2000
33
Thrombolytic therapy with use of alteplase (rt-PA) in peripheral arterial occlusive disease: review of the clinical literature. The Advisory Panel. 54
10716384 2000
34
Hypercoagulable state mutation analysis in white patients with early first-trimester recurrent pregnancy loss. 54
10360908 1999
35
Circulating cell adhesion molecules and endothelial markers before and after transluminal angioplasty in peripheral arterial occlusive disease. 54
9920521 1999
36
Decrease in P-selectin levels in patients with hypercholesterolaemia and peripheral arterial occlusive disease after lipid-lowering treatment. 54
10355866 1999
37
Endothelial marker proteins in hyperhomocysteinemia. 54
9408014 1997
38
A common 844INS68 insertion variant in the cystathionine beta-synthase gene. 54
9367794 1997
39
Fibrinogen and markers of fibrinolysis and endothelial damage following resolution of critical limb ischaemia. 54
7552524 1995
40
D-dimer in local thrombolytic therapy with low doses of recombinant human tissue-type plasminogen activator (rt-PA) in patients with peripheral arterial occlusive disease. 54
2125370 1990

Variations for Grange Syndrome

ClinVar genetic disease variations for Grange Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 YY1AP1 NM_001198903.1(YY1AP1):c.724C>T (p.Gln242Ter)SNV Pathogenic 375638 rs749232831 1:155646353-155646353 1:155676562-155676562
2 YY1AP1 NM_001198903.1(YY1AP1):c.2390T>A (p.Leu797Ter)SNV Pathogenic 375639 rs1057519597 1:155629725-155629725 1:155659934-155659934
3 YY1AP1 NM_001198906.2(YY1AP1):c.*930G>TSNV Pathogenic 375640 rs1057519598 1:155629714-155629714 1:155659923-155659923
4 YY1AP1 NM_001198906.2(YY1AP1):c.*428_*431TCTG[1]short repeat Pathogenic 375641 rs759089960 1:155630209-155630212 1:155660418-155660421
5 YY1AP1 NM_018253.3(YY1AP1):c.217C>T (p.Gln73Ter)SNV Pathogenic 375642 rs1057519599 1:155646413-155646413 1:155676622-155676622
6 YY1AP1 NM_001198903.1(YY1AP1):c.826-1G>ASNV Pathogenic 523660 rs199653824 1:155642523-155642523 1:155672732-155672732
7 YY1AP1 NM_001198903.1(YY1AP1):c.997+23T>GSNV Pathogenic 523661 rs1558307853 1:155642328-155642328 1:155672537-155672537

Expression for Grange Syndrome

Search GEO for disease gene expression data for Grange Syndrome.

Pathways for Grange Syndrome

Pathways related to Grange Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 VWF THBD SELP SELE PLAT F3
2
Show member pathways
12 PLAT MTHFR CCL2 CBS
3
Show member pathways
11.95 THBD SELP SELE
4 11.85 VCAM1 SELP SELE
5
Show member pathways
11.82 VWF THBD PLAT F3
6 11.72 VWF THBD PLAT F3
7 11.7 VCAM1 SELE CCL2
8 11.56 VWF F3 CCL2
9 11.5 VCAM1 THBD SELE PLAT CCL2
10 11.16 VCAM1 SELP SELE CCL2
11 11.02 VCAM1 THBD SELE F3 CCL2
12 10.7 VCAM1 CCL2
13 10.31 MTHFR CBS

GO Terms for Grange Syndrome

Cellular components related to Grange Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 VCAM1 THBD SELP SELE PLAT F3
2 Ino80 complex GO:0031011 8.8 YY1AP1 YY1 INO80

Biological processes related to Grange Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.83 VWF VCAM1 SELP SELE CCL2
2 response to hypoxia GO:0001666 9.65 VCAM1 PLAT MTHFR
3 blood coagulation GO:0007596 9.62 VWF THBD PLAT F3
4 hemostasis GO:0007599 9.54 VWF THBD F3
5 calcium-mediated signaling using intracellular calcium source GO:0035584 9.46 VCAM1 SELP
6 response to lipopolysaccharide GO:0032496 9.46 VCAM1 THBD SELP SELE
7 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.43 VCAM1 SELP SELE
8 homocysteine metabolic process GO:0050667 9.4 MTHFR CBS
9 leukocyte cell-cell adhesion GO:0007159 9.13 VCAM1 SELP SELE
10 leukocyte tethering or rolling GO:0050901 8.8 VCAM1 SELP SELE

Molecular functions related to Grange Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sialic acid binding GO:0033691 9.16 SELP SELE
2 oligosaccharide binding GO:0070492 8.96 SELP SELE
3 modified amino acid binding GO:0072341 8.62 MTHFR CBS

Sources for Grange Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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