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 57 25 59 74 37 6
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 57 25 74 72
Grange Occlusive Arterial Syndrome 57 25 59 74
Grng 57 25 74
Progressive Arterial Occlusive Disease-Hypertension-Heart Defects-Bone Fragility-Brachysyndactyly Syndrome 59
Arterial Occlusive Diseases 44

Characteristics:

Orphanet epidemiological data:

59
grange syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
grange syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602531
KEGG 37 H02224
MeSH 44 D001157
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1865267
Orphanet 59 ORPHA79094
MedGen 42 C1865267
UMLS 72 C1865267

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 coronary heart disease 1. 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 Selenium Micronutrient Network. The drugs Cilostazol and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and bone marrow, and related phenotypes are specific learning disability and arterial stenosis

KEGG : 37
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 : 74 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 322)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 31.1 YY1AP1 YY1 INO80
2 coronary heart disease 1 30.8 SELP PLAT MTHFR
3 raynaud phenomenon 30.8 VWF THBD
4 buerger disease 30.6 SELE MTHFR
5 thrombophlebitis 30.5 PLAT MTHFR
6 arteriosclerosis obliterans 30.4 VCAM1 SELP
7 peripheral vascular disease 30.2 VWF VCAM1 THBD SELP SELE PLAT
8 branch retinal artery occlusion 30.1 MTHFR F3
9 chronic venous insufficiency 30.0 VCAM1 SELP PLAT
10 peripheral artery disease 30.0 VCAM1 SELP CCL2
11 carotid artery disease 29.9 THBD SELE CCL2
12 subendocardial myocardial infarction 29.8 VCAM1 SELE
13 platelet aggregation, spontaneous 29.8 VWF SELP PLAT
14 vertebrobasilar insufficiency 29.6 SELE F3
15 atrial fibrillation 29.6 VWF SELP PLAT
16 atherosclerosis susceptibility 29.6 VCAM1 SELE CCL2
17 protein s deficiency 29.5 MTHFR F3
18 hypertension, essential 29.5 VWF THBD SELP PLAT
19 venous insufficiency 29.4 VWF VCAM1 SELP PLAT
20 pulmonary artery disease 29.3 PLAT MTHFR F3
21 purpura 29.0 VWF THBD F3
22 thrombophilia 29.0 VWF THBD MTHFR F3
23 diabetic angiopathy 28.8 VWF THBD SELE CCL2
24 proteasome-associated autoinflammatory syndrome 1 28.8 VCAM1 SELP SELE CCL2
25 takayasu arteritis 28.7 VWF VCAM1 THBD SELE
26 intermediate coronary syndrome 28.6 VWF SELP PLAT F3
27 arteriosclerosis 28.5 VCAM1 SELP SELE F3 CCL2
28 thrombophilia due to thrombin defect 28.5 VWF THBD PLAT MTHFR F3 CBS
29 pulmonary hypertension 28.5 VWF THBD PLAT F3
30 essential thrombocythemia 28.5 VWF THBD SELP F3
31 vasculitis 28.4 VWF VCAM1 THBD SELE CCL2
32 thrombophilia due to activated protein c resistance 28.3 VWF THBD PLAT MTHFR F3
33 stroke, ischemic 28.1 VWF THBD SELP PLAT MTHFR F3
34 cerebrovascular disease 28.0 VWF VCAM1 SELP SELE PLAT MTHFR
35 heart disease 27.7 VWF SELP PLAT MTHFR F3 CBS
36 arteries, anomalies of 27.0 VWF VCAM1 SELP SELE PLAT F3
37 systemic lupus erythematosus 26.9 VWF VCAM1 THBD SELE F3 CCL2
38 myocardial infarction 26.5 VWF THBD SELP PLAT MTHFR F3
39 antiphospholipid syndrome 26.1 VWF VCAM1 THBD SELP SELE PLAT
40 vascular disease 25.4 VWF VCAM1 THBD SELP SELE PLAT
41 peripheral arterial occlusive disease 1 12.8
42 pseudoxanthoma elasticum 11.4
43 intermittent claudication 10.8
44 limb ischemia 10.7
45 lens subluxation 10.5 MTHFR CBS
46 mercury poisoning 10.5 THBD PLAT
47 postaxial acrofacial dysostosis 10.5 THBD PLAT
48 carotid stenosis 10.4
49 learning disability 10.4
50 unilateral absence of a pulmonary artery 10.4 VWF THBD

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
2 arterial stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100545
3 intellectual disability, borderline 59 32 hallmark (90%) Very frequent (99-80%) HP:0006889
4 increased susceptibility to fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002659
5 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
6 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
7 aortic regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001659
8 syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001159
9 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
10 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
11 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
12 coronary artery stenosis 32 occasional (7.5%) HP:0005145
13 intellectual disability 32 HP:0001249
14 brachydactyly 32 HP:0001156
15 recurrent fractures 32 HP:0002757
16 renovascular hypertension 32 HP:0100817
17 decreased body weight 32 HP:0004325
18 finger clinodactyly 32 HP:0040019
19 renal artery stenosis 32 HP:0001920
20 carotid artery stenosis 32 HP:0100546

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 177)
# 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 5280723 149351
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
6
Clonidine Approved Phase 4 4205-90-7 2803
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
9
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
10
Metformin Approved Phase 4 657-24-9 4091 14219
11
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
12 Lipid Regulating Agents Phase 4
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
14 Hypolipidemic Agents Phase 4
15 Anticholesteremic Agents Phase 4
16 Antimetabolites Phase 4
17 Blood Substitutes Phase 4
18 Rosuvastatin Calcium Phase 4 147098-20-2
19 Neurotransmitter Agents Phase 4
20 arginine Phase 4
21 Adrenergic alpha-2 Receptor Agonists Phase 4
22 Adrenergic Agonists Phase 4
23 Adrenergic alpha-Agonists Phase 4
24 Adrenergic Agents Phase 4
25 Anesthetics, Local Phase 4
26 Antihypertensive Agents Phase 4
27 Sympatholytics Phase 4
28 Autonomic Agents Phase 4
29 Calcium, Dietary Phase 4
30 Analgesics Phase 4
31 Peripheral Nervous System Agents Phase 4
32 Tranquilizing Agents Phase 4
33 Anti-Anxiety Agents Phase 4
34 Central Nervous System Depressants Phase 4
35 Psychotropic Drugs Phase 4
36 Hormones Phase 4
37 calcium channel blockers Phase 4
38 Hypoglycemic Agents Phase 4
39 Anticonvulsants Phase 4
40 insulin Phase 4
41 Biguanides Phase 4
42 Insulin, Globin Zinc Phase 4
43
Ropivacaine Approved Phase 3 84057-95-4 71273 175805
44
Dalteparin Approved Phase 2, Phase 3 9005-49-6
45
Nitroglycerin Approved, Investigational Phase 3 55-63-0 4510
46
Fenofibrate Approved Phase 3 49562-28-9 3339
47
Simvastatin Approved Phase 3 79902-63-9 54454
48
Lovastatin Approved, Investigational Phase 3 75330-75-5 53232
49
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
50
Ezetimibe Approved Phase 3 163222-33-1 150311

Interventional clinical trials:

(show top 50) (show all 219)
# 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 Prism Trial: A Retrospective Case Review of Technical Success Using the Penumbra and Indigo Systems for Mechanical Thrombectomy in the Periphery Unknown status NCT02085551 Phase 4
3 The Study to Compare the Treatment of Stent and Prothesis Bypass in SFA Occlusions Unknown status NCT01147419 Phase 4
4 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
5 A Clinical Study of Gadoteric Acid in Non-Coronary Magnetic Resonance (MR) Completed NCT00447889 Phase 4 gadoteric acid
6 YUKON-drug-eluting Stent Below The Knee - Prospective Randomized Double-blind Multicenter Study Completed NCT00664963 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 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
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 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
11 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
12 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
13 Prevention of Radial Artery Occlusion: Prophylactic Hyperperfusion Evaluation Trial Completed NCT01564888 Phase 4
14 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
15 Pharmacogenomics of Antiplatelet Response - II Completed NCT01894555 Phase 4 Aspirin
16 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
17 High (100IU/Kg) Versus Standard (50IU/Kg) Heparin Dose for Prevention of Forearm Artery Occlusion Forearm Artery Occlusion Completed NCT02570243 Phase 4 High dose of Unfractionated Heparin;Standard dose of Unfractionated heparin
18 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
19 The Effect of Angioplasty in Peripheral Arterial Disease on Endothelial Function Completed NCT00660634 Phase 4
20 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
21 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
22 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
23 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
24 Pregabalin for Pain Reduction in Critical Limb Ischemia - A Double Blind, Randomized Controlled Study Terminated NCT00403780 Phase 4 pregabalin;placebo
25 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
26 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
27 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
28 Balloon Angioplasty Versus Self-expanding Stent for Recanalization of Chronic Total Occlusions of the Femoral Artery Unknown status NCT01268722 Phase 3
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 Percutaneous Renal Stenting in Renovascular Disease With or Without Distal Atheroembolic Protection Unknown status NCT00868972 Phase 2, Phase 3
32 Heparin Bonded and Collagen Coated Polyester or Human Umbilical Vein for Femoropopliteal Bypass: a Prospective Randomised Multicentre Trial. Completed NCT00523263 Phase 3
33 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
34 A 6 Month, Prospective, Open-Label Multiple Center Extension Trial To Evaluate The Long Term Safety And Sustained Efficacy Of Fragmin In The Treatment Of Chronic Foot Ulcers In Diabetic Patients With Peripheral Arterial Occlusive Disease Completed NCT00765063 Phase 2, Phase 3 Fragmin
35 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
36 Multi Center Combined Non-invasive Coronary Angiography and Myocardial Perfusion Imaging Using 320-Detector Computed Tomography Completed NCT00934037 Phase 3
37 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
38 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
39 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
40 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
41 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
42 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
43 A Prospective, Randomized Trial to Compare Effects of Intensive Versus Conventional Lipid-lowering Therapy in Patients With Severe Atherosclerotic Renal Artery Stenosis Undergoing Stent Placement Completed NCT03521700 Phase 2, Phase 3 Rosuvastatin
44 Cholesterol-Lowering Atherosclerosis Study (CLAS) Completed NCT00000599 Phase 3 colestipol;niacin
45 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
46 A Randomized Comparison of Post-procedural/Pre-hemostasis Intraarterial Nitroglycerin Versus Nicardipine to Reduce Radial Artery Occlusion After Transradial Catheterization Completed NCT03622060 Phase 3 Nitroglycerin
47 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
48 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)
49 Arterial Disease Multifactorial Intervention Trial (ADMIT) Completed NCT00000539 Phase 3 niacin;pravastatin;beta-carotene;vitamin E;vitamin C;warfarin
50 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

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:

41
Bone, Heart, Bone Marrow, Brain, Kidney, Endothelial, Eye

Publications for Grange Syndrome

Articles related to Grange Syndrome:

(show all 38)
# Title Authors PMID Year
1
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. 38 8 71
27939641 2017
2
A new case of Grange syndrome without cardiac findings. 38 8 71
16691574 2006
3
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? 38 8 71
11241488 2001
4
Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. 8 71
9489789 1998
5
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. 38
31270375 2019
6
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. 38
30556293 2019
7
Biological function analysis of monoclonal antibodies against human granulins in vitro using U251 cells as a model. 38
27693922 2017
8
Mixed-grass prairie canopy structure and spectral reflectance vary with topographic position. 38
22961614 2012
9
Grange syndrome: an identifiable cause of stroke in young adults. 38
22987684 2012
10
Role of ICAM-1 and E-selectin gene polymorphisms in pathogenesis of PAOD in Egyptian patients. 9
20191078 2010
11
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. 9
18040753 2009
12
Role of von Willebrand factor in vascular disease. 9
19151843 2009
13
Vasculitis mimics. 38
18281854 2008
14
Andrographolide inhibits NF-kappaBeta activation and attenuates neointimal hyperplasia in arterial restenosis. 9
17943075 2007
15
Early endothelial and haematological response to cryoplasty compared with balloon angioplasty of the superficial femoral artery--a pilot study. 9
17202198 2007
16
Circulating markers of endothelial function in cardiovascular disease. 9
16530177 2006
17
Double jeopardy: how soluble P-selectin activates leukocytes in peripheral arterial occlusive disease. 9
16397153 2006
18
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. 9
15507889 2004
19
Reteplase monotherapy and reteplase/abciximab combination therapy in peripheral arterial occlusive disease: results from the RELAX trial. 9
15028807 2004
20
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. 9
14963184 2004
21
Modulation of collateral artery growth in a porcine hindlimb ligation model using MCP-1. 9
12505873 2003
22
The safety, efficacy, and pharmacoeconomics of low-dose alteplase compared with urokinase for catheter-directed thrombolysis of arterial and venous occlusions. 9
12618684 2003
23
Intravenous prostaglandin E1 reduces monocyte chemoattractant protein-1 levels in peripheral arterial obstructive disease. 9
12595852 2003
24
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. 9
12529702 2003
25
Initial experience with the combination of reteplase and abciximab for thrombolytic therapy in peripheral arterial occlusive disease: a pilot study. 9
11788692 2002
26
Intravenous prostaglandin E1 reduces soluble vascular cell adhesion molecule-1 in peripheral arterial obstructive disease. 9
11579367 2001
27
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. 9
11528503 2001
28
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia. 9
11057853 2000
29
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? 9
10905802 2000
30
Initial results of reteplase in the treatment of acute lower extremity arterial occlusions. 9
10735421 2000
31
Thrombolytic therapy with use of alteplase (rt-PA) in peripheral arterial occlusive disease: review of the clinical literature. The Advisory Panel. 9
10716384 2000
32
Hypercoagulable state mutation analysis in white patients with early first-trimester recurrent pregnancy loss. 9
10360908 1999
33
Decrease in P-selectin levels in patients with hypercholesterolaemia and peripheral arterial occlusive disease after lipid-lowering treatment. 9
10355866 1999
34
Circulating cell adhesion molecules and endothelial markers before and after transluminal angioplasty in peripheral arterial occlusive disease. 9
9920521 1999
35
Endothelial marker proteins in hyperhomocysteinemia. 9
9408014 1997
36
A common 844INS68 insertion variant in the cystathionine beta-synthase gene. 9
9367794 1997
37
Fibrinogen and markers of fibrinolysis and endothelial damage following resolution of critical limb ischaemia. 9
7552524 1995
38
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. 9
2125370 1990

Variations for Grange Syndrome

ClinVar genetic disease variations for Grange Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 YY1AP1 NM_001198903.1(YY1AP1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs749232831 1:155646353-155646353 1:155676562-155676562
2 YY1AP1 NM_001198903.1(YY1AP1): c.2390T> A (p.Leu797Ter) single nucleotide variant Pathogenic rs1057519597 1:155629725-155629725 1:155659934-155659934
3 YY1AP1 NM_001198906.2(YY1AP1): c.*930G> T single nucleotide variant Pathogenic rs1057519598 1:155629714-155629714 1:155659923-155659923
4 YY1AP1 NM_001198906.2(YY1AP1): c.*428_*431TCTG[1] short repeat Pathogenic rs759089960 1:155630209-155630212 1:155660418-155660421
5 YY1AP1 NM_018253.3(YY1AP1): c.217C> T (p.Gln73Ter) single nucleotide variant Pathogenic rs1057519599 1:155646413-155646413 1:155676622-155676622
6 YY1AP1 NM_001198903.1(YY1AP1): c.826-1G> A single nucleotide variant Pathogenic 1:155642523-155642523 1:155672732-155672732
7 YY1AP1 NM_001198903.1(YY1AP1): c.997+23T> G single nucleotide variant Pathogenic 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 15)
# 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 11.7 VCAM1 SELE CCL2
7 11.7 VWF THBD PLAT F3
8 11.56 VWF F3 CCL2
9 11.5 VCAM1 THBD SELE PLAT CCL2
10 11.15 VCAM1 SELP SELE CCL2
11 11.12 VCAM1 SELE
12 11.07 THBD CCL2
13 11.02 VCAM1 THBD SELE F3 CCL2
14 10.7 VCAM1 CCL2
15 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:

(show all 11)
# 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 response to interleukin-1 GO:0070555 9.49 SELE MTHFR
6 calcium-mediated signaling using intracellular calcium source GO:0035584 9.46 VCAM1 SELP
7 response to lipopolysaccharide GO:0032496 9.46 VCAM1 THBD SELP SELE
8 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.43 VCAM1 SELP SELE
9 homocysteine metabolic process GO:0050667 9.4 MTHFR CBS
10 leukocyte cell-cell adhesion GO:0007159 9.13 VCAM1 SELP SELE
11 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 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
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