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VDDR
MCID: RCK004
MIFTS: 68

Rickets (VDDR)

Categories: Bone diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Rickets

About this section

MalaCards integrated aliases for Rickets:

Name: Rickets 12 74 52 29 54 6 42 15 17 71
Vitamin D Deficiency 54 6 42 17 71 32
Vitamin D-Dependent Rickets 12 25 36 6 71
Vitamin D Hydroxylation-Deficient Rickets 12
Vitamin D Deficiency Disease 52
Vitamin-D Deficiency Rickets 52
Nutritional Rickets 52
Hypovitaminosis D 52
Active Rickets 12
Vitamin D 42
Vddr 25

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:10609
KEGG 36 H01143
ICD9CM 34 268.0
NCIt 49 C26878
SNOMED-CT 67 41345002 68295002
ICD10 32 E55 E55.0 E55.9
UMLS 71 C0035579 C0042870 C0221468
Sources

Summaries for Rickets

About this section
MedlinePlus : 42 What is vitamin D deficiency? Vitamin D deficiency means that you are not getting enough vitamin D to stay healthy. Why do I need vitamin D and how do I get it? Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. Vitamin D also has a role in your nervous, muscle, and immune systems. You can get vitamin D in three ways: through your skin, from your diet, and from supplements. Your body forms vitamin D naturally after exposure to sunlight. But too much sun exposure can lead to skin aging and skin cancer, so many people try to get their vitamin D from other sources. How much vitamin D do I need? The amount of vitamin D you need each day depends on your age. The recommended amounts, in international units (IU), are Birth to 12 months: 400 IU Children 1-13 years: 600 IU Teens 14-18 years: 600 IU Adults 19-70 years: 600 IU Adults 71 years and older: 800 IU Pregnant and breastfeeding women: 600 IU People at high risk of vitamin D deficiency may need more. Check with your health care provider about how much you need. What causes vitamin D deficiency? You can become deficient in vitamin D for different reasons: You don't get enough vitamin D in your diet You don't absorb enough vitamin D from food (a malabsorption problem) You don't get enough exposure to sunlight. Your liver or kidneys cannot convert vitamin D to its active form in the body. You take medicines that interfere with your body's ability to convert or absorb vitamin D Who is at risk of vitamin D deficiency? Some people are at higher risk of vitamin D deficiency: Breastfed infants, because human milk is a poor source of vitamin D. If you are breastfeeding, give your infant a supplement of 400 IU of vitamin D every day. Older adults, because your skin doesn't make vitamin D when exposed to sunlight as efficiently as when you were young, and your kidneys are less able to convert vitamin D to its active form. People with dark skin, which has less ability to produce vitamin D from the sun. People with disorders such as Crohn's disease or celiac disease who don't handle fat properly, because vitamin D needs fat to be absorbed. People who have obesity, because their body fat binds to some vitamin D and prevents it from getting into the blood. People who have had gastric bypass surgery People with osteoporosis People with chronic kidney or liver disease. People with hyperparathyroidism (too much of a hormone that controls the body's calcium level) People with sarcoidosis, tuberculosis, histoplasmosis, or other granulomatous disease (disease with granulomas, collections of cells caused by chronic inflammation) People with some lymphomas, a type of cancer. People who take medicines that affect vitamin D metabolism, such as cholestyramine (a cholesterol drug), anti-seizure drugs, glucocorticoids, antifungal drugs, and HIV/AIDS medicines. Talk with your health care provider if you are at risk for vitamin D deficiency. There is a blood test which can measure how much vitamin D is in your body. What problems does vitamin D deficiency cause? Vitamin D deficiency can lead to a loss of bone density, which can contribute to osteoporosis and fractures (broken bones). Severe vitamin D deficiency can also lead to other diseases. In children, it can cause rickets. Rickets is a rare disease that causes the bones to become soft and bend. African American infants and children are at higher risk of getting rickets. In adults, severe vitamin D deficiency leads to osteomalacia. Osteomalacia causes weak bones, bone pain, and muscle weakness. Researchers are studying vitamin D for its possible connections to several medical conditions, including diabetes, high blood pressure, cancer, and autoimmune conditions such as multiple sclerosis. They need to do more research before they can understand the effects of vitamin D on these conditions. How can I get more vitamin D? There are a few foods that naturally have some vitamin D: Fatty fish such as salmon, tuna, and mackerel Beef liver Cheese Mushrooms Egg yolks You can also get vitamin D from fortified foods. You can check the food labels to find out whether a food has vitamin D. Foods that often have added vitamin D include Milk Breakfast cereals Orange juice Other dairy products, such as yogurt Soy drinks Vitamin D is in many multivitamins. There are also vitamin D supplements, both in pills and a liquid for babies. If you have vitamin D deficiency, the treatment is with supplements. Check with your health care provider about how much you need to take, how often you need to take it, and how long you need to take it. Can too much vitamin D be harmful? Getting too much vitamin D (known as vitamin D toxicity) can be harmful. Signs of toxicity include nausea, vomiting, poor appetite, constipation, weakness, and weight loss. Excess vitamin D can also damage the kidneys. Too much vitamin D also raises the level of calcium in your blood. High levels of blood calcium (hypercalcemia) can cause confusion, disorientation, and problems with heart rhythm. Most cases of vitamin D toxicity happen when someone overuses vitamin D supplements. Excessive sun exposure doesn't cause vitamin D poisoning because the body limits the amount of this vitamin it produces.

MalaCards based summary : Rickets, also known as vitamin d deficiency, is related to vitamin d-dependent rickets, type 2a and hereditary hypophosphatemic rickets, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Rickets is PHEX (Phosphate Regulating Endopeptidase Homolog X-Linked), and among its related pathways/superpathways are Steroid biosynthesis and Endocrine and other factor-regulated calcium reabsorption. The drugs Ribavirin and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A bone remodeling disease that has material basis in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results in softening and deformity located in bone.

Genetics Home Reference : 25 Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form. The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures. In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels. Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.

NIH Rare Diseases : 52 Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D , which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.

KEGG : 36 Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.

Wikipedia : 74 Rickets is a condition that results in weak or soft bones in children. Symptoms include bowed legs,... more...

Sources

Related Diseases for Rickets

About this section

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

(show top 50) (show all 1630)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 35.0 VDR PHEX CYP27B1
2 hereditary hypophosphatemic rickets 34.8 SLC34A3 SLC34A1
3 hypophosphatemic rickets with hypercalciuria, hereditary 34.1 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
4 hypocalcemic vitamin d-dependent rickets 34.0 CYP2R1 CYP27B1
5 hypophosphatemic rickets, autosomal dominant 34.0 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
6 hypophosphatemic rickets, x-linked dominant 33.9 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
7 autosomal recessive hypophosphatemic rickets 33.7 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
8 dent disease 1 33.7 SLC34A3 SLC34A1 OCRL CLCN5
9 hypophosphatemic rickets, x-linked recessive 33.5 VDR SLC34A3 SLC34A1 PHEX MEPE FGF23
10 idiopathic infantile hypercalcemia 33.1 SLC34A1 CYP24A1
11 glucocorticoid-induced osteoporosis 32.8 VDR PTH BGLAP
12 renal osteodystrophy 32.8 VDR PTH FGF23 CASR BGLAP
13 pseudohypoparathyroidism, type ib 32.7 SLC34A3 PTH BGLAP
14 arterial calcification of infancy 32.7 SLC34A3 PHEX FGF23 ENPP1 DMP1 ALPL
15 ossification of the posterior longitudinal ligament of spine 32.6 ENPP1 BGLAP
16 hypophosphatasia, adult 32.1 PTH ENPP1 ALPL
17 hypophosphatasia 32.1 PTH PHEX FGF23 ENPP1 BGLAP ALPP
18 osteoporosis, juvenile 31.9 PTH GC BGLAP
19 aminoaciduria 31.2 SLC34A1 OCRL CLCN5
20 tumoral calcinosis, hyperphosphatemic, familial, 1 31.0 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
21 oncogenic osteomalacia 31.0 PTH PHEX MEPE FGF23 DMP1
22 nevus, epidermal 30.9 SLC34A3 PHEX FGF23 ENPP1 DMP1
23 mccune-albright syndrome 30.6 SLC34A1 FGF23 BGLAP ALPP
24 blount's disease 30.6 SLC34A3 FGF23
25 osteomalacia 30.5 VDR SLC34A3 SLC34A1 PTH PHEX MEPE
26 metabolic acidosis 30.5 PTH FGF23 BGLAP
27 hypercalciuria, absorptive, 2 30.5 VDR SLC34A3 CLCN5 CASR
28 familial tumoral calcinosis 30.4 PHEX FGF23
29 hyperparathyroidism 30.4 VDR PTH PHEX GC FGF23 CYP27B1
30 bone resorption disease 30.4 VDR PTH FGF23 CASR BGLAP
31 brittle bone disorder 30.4 PTH PHEX MEPE BGLAP ALPL
32 opsismodysplasia 30.4 PHEX FGF23
33 fanconi syndrome 30.4 SLC34A3 SLC34A1 PTH PHEX OCRL FGF23
34 osteoblastoma 30.3 SLC34A3 MEPE FGF23 BGLAP
35 raine syndrome 30.3 FGF23 DMP1
36 hyperthyroidism 30.3 PTH BGLAP ALPP
37 nephrolithiasis, calcium oxalate 30.3 VDR SLC34A1 CLCN5 CASR
38 osteitis fibrosa 30.3 PTH FGF23 CASR BGLAP
39 calcinosis 30.3 PHEX MEPE FGF23 ENPP1 DMP1
40 bone disease 30.3 VDR SLC34A3 PTH PHEX FGF23 CASR
41 hypoparathyroidism 30.2 VDR PTH FGF23 CASR BGLAP ALPP
42 urolithiasis 30.2 VDR CASR BGLAP
43 dental abscess 30.2 SLC34A3 PTH PHEX MEPE FGF23 DMP1
44 enthesopathy 30.2 SLC34A3 PHEX MEPE FGF23 ENPP1 DMP1
45 schimmelpenning-feuerstein-mims syndrome 30.2 SLC34A3 PHEX MEPE FGF23 ENPP1 DMP1
46 craniometaphyseal dysplasia, autosomal dominant 30.1 ENPP1 BGLAP ALPL
47 dental pulp necrosis 30.1 MEPE DMP1 BGLAP
48 sclerosteosis 30.1 VDR PTH BGLAP
49 parathyroid adenoma 30.1 VDR PTH CASR BGLAP ALPP
50 hyperphosphatemia 30.1 VDR SLC34A1 PTH PHEX FGF23 CASR

Comorbidity relations with Rickets via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Osteoporosis

Graphical network of the top 20 diseases related to Rickets:



Diseases related to Rickets
Sources

Symptoms & Phenotypes for Rickets

About this section

UMLS symptoms related to Rickets:


back pain, sciatica, muscle cramp

GenomeRNAi Phenotypes related to Rickets according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.36 SLC34A3
2 Decreased viability GR00249-S 9.36 ALPL CYP24A1 ENPP1 FAH
3 Decreased viability GR00381-A-1 9.36 SLC34A3
4 Decreased viability GR00386-A-1 9.36 ALPL SLC34A3 VDR
5 Decreased viability GR00402-S-2 9.36 CYP2R1 ENPP1

MGI Mouse Phenotypes related to Rickets:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ALPL BGLAP CASR CLCN5 CYP24A1 CYP27B1
2 growth/size/body region MP:0005378 10.28 ALPL CASR CLCN5 CYP24A1 CYP27B1 DMP1
3 cellular MP:0005384 10.22 ALPL BGLAP CASR CLCN5 CYP27B1 DMP1
4 endocrine/exocrine gland MP:0005379 10.17 ALPL BGLAP CASR CYP27B1 DMP1 FAH
5 immune system MP:0005387 10.1 ALPL BGLAP CASR CYP27B1 DMP1 ENPP1
6 craniofacial MP:0005382 10.06 ALPL CLCN5 CYP27B1 DMP1 ENPP1 PHEX
7 renal/urinary system MP:0005367 9.97 CASR CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1
8 limbs/digits/tail MP:0005371 9.86 ALPL CYP27B1 DMP1 ENPP1 FGF23 PHEX
9 reproductive system MP:0005389 9.61 ALPL BGLAP CYP24A1 CYP27B1 DMP1 FGF23
10 skeleton MP:0005390 9.55 ALPL BGLAP CASR CLCN5 CYP24A1 CYP27B1
Sources

Drugs & Therapeutics for Rickets

About this section

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

(show top 50) (show all 663)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4 36791-04-5 37542
2
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
3
Dinoprostone Approved Phase 4 363-24-6 5280360
4
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
5
Goserelin Approved Phase 4 65807-02-5 5311128 47725
6
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
7
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
8
Levetiracetam Approved Phase 4 102767-28-2 441341
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
11
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
12
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
13
Rufinamide Approved Phase 4 106308-44-5 129228
14
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
15
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
16
Nitrazepam Approved Phase 4 146-22-5 4506
17
Stiripentol Approved Phase 4 49763-96-4
18
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
19
Topiramate Approved Phase 4 97240-79-4 5284627
20
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
21
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
22
Ethosuximide Approved Phase 4 77-67-8 3291
23
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
24
Iodine Approved, Investigational Phase 4 7553-56-2 807
25
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
26
leucovorin Approved Phase 4 58-05-9 6006 143
27
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
28
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
29
Racepinephrine Approved Phase 4 329-65-7 838
30
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
31
Altretamine Approved Phase 4 645-05-6 2123
32
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
33
Copper Approved, Investigational Phase 4 7440-50-8 27099
34
Ezetimibe Approved Phase 4 163222-33-1 150311
35
Adalimumab Approved Phase 4 331731-18-1 16219006
36
Etanercept Approved, Investigational Phase 4 185243-69-0
37
Phylloquinone Approved, Investigational Phase 4 84-80-0
38
Lactulose Approved Phase 4 4618-18-2 11333
39
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
40
Pamidronate Approved Phase 4 40391-99-9 4674
41
Etidronic acid Approved Phase 4 2809-21-4, 7414-83-7 3305
42
Bazedoxifene Approved, Investigational Phase 4 198481-32-2
43
Testosterone enanthate Approved Phase 4 315-37-7 9416
44
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
45
Methyltestosterone Approved Phase 4 58-18-4 6010
46
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
47
Demeclocycline Approved Phase 4 127-33-3 5311063
48
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
49
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
50
Sage Approved Phase 4

Interventional clinical trials:

(show top 50) (show all 2719)
# Name Status NCT ID Phase Drugs
1 Optimal Initial and Maintenance Doses of Ergocalciferol Supplementation for Treatment of Hypovitaminosis D in Thai Adults: A Randomized, Double-blinded Dose-comparison Study Unknown status NCT03228862 Phase 4 Ergocalciferol
2 Does Administration of Vitamin D in African Americans With Hypovitaminosis D and Type 2 DM Improve Inflammatory Markers of Cardiovascular Disease? Unknown status NCT01153243 Phase 4 Ergocalciferol;Placebo pill
3 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
4 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
5 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
6 The Impacts of Vitamin D Supplementation on Glucose Metabolism in Chinese Women With Vitamin D Deficiency and Former Gestational Diabetes Mellitus:A Randomised Control Trial Unknown status NCT03138616 Phase 4 vitamin D
7 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
8 Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis: a Double-blind Randomised Controlled Trial Unknown status NCT02507843 Phase 4 Cholecalciferol;Placebo
9 Effects of Cholecalciferol on Osteoprotegerin Levels and Other Clinical Outcomes in Chronic Kidney Disease Patients on Peritoneal Dialysis: a Randomized Controlled Trial Unknown status NCT02598635 Phase 4 Cholecalciferol;Placebo
10 Effect of Vitamin D Supplementation on Postoperative Pain and Sedation-agitation Unknown status NCT02664857 Phase 4 Vitamin D;Placebo
11 Intervention Study Measuring Inflammatory Cytokine Levels in the Serum of Patients Who Underwent an Acute MI, and the Influence of Vitamin D on These Levels Unknown status NCT01115842 Phase 4 Vitamin D
12 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension (VDATH) Unknown status NCT01472796 Phase 4 Tekturna(Aliskiren) plus placebo
13 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
14 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
15 Additive Renoprotective Effects of Oral Calcitriol in Nondiabetic Chronic Kidney Disease Patients Unknown status NCT01512862 Phase 4 Calcitriol;Placebo
16 Effect of Vitamin d Supplementation on the Control of Persistent Asthma in Children at Dr George Mukhari Academic Hospital, Pretoria, South Africa Unknown status NCT02053402 Phase 4 Vitamin D
17 Comparisons of the Effect of Inactive and Active Vitamin D on Serum Sclerostin/dickkopf1 Levels Unknown status NCT01765010 Phase 4 Calcitriol;Alfacalcidol;Cholecalciferol;Placebo
18 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
19 Optimal Substitution Dose of the Vitamin D During Winter Time in Patient With Inflammatory Bowel Diseases (IBD) Unknown status NCT02958501 Phase 4 Colecalciferol
20 the Effect of Vitamin D on the Serum Thioredoxin, TBP-2, Thioredoxin Reductase, Gene Expression of TBP-2 in Patients With Type II Diabetes Unknown status NCT01876563 Phase 4
21 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
22 Clinical Trial, Open, Parallel Groups , Value the Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4 Hidroferol®;Paricalcitol: Zemplar®;Habitual medication
23 Providing Intravenous Paricalcitol Treatment to the Sick and Poor Chronic Hemodialysis Patients With Severe Secondary Hyperparathyroidism Resistant to Existing Vitamin D Analogs Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
24 The Assessment of the Effect of Vitamin D Supplementation on the Serum of AGES and Endothelialy Factors and Gene Expression of Glyoxalase Enzyme and YKL-40 Factor in PBMC Cells in the Patients With Type 2 Diabetes . Unknown status NCT03008057 Phase 4
25 Effect of Vitamin D Supplementation on Bone Turnover Markers During Tenofovir-Emtricitibine Pre-Exposure Prophylaxis in Men Who Have Sex With Men; A Sub-study of CCTG 595 Unknown status NCT02367599 Phase 4 Vitamin D Supplement
26 Effect of Vitamin D Supplementation in Young Children With Acute Lower Respiratory Tract Infection at Dr George Mukhari Academic Hospital, Pretoria, South Africa Unknown status NCT02054182 Phase 4 Vitamin D
27 A Randomized, Multi-center, Phase IV Open-label Study Evaluating the Antiviral Efficacy of Addition of Vitamin D in Patients With Treatment Naïve Chronic Hepatitis C Receiving Peginterferon Alfa-2a Plus Ribavirin Unknown status NCT01439776 Phase 4
28 Colecalciferol as an Add-on Treatment to Subcutaneously Administered Interferon-beta-1b for Treatment of MS Unknown status NCT01339676 Phase 4 Colecalciferol;Placebo capsules
29 Evaluation of the Influence of Alendronate on Wound Healing After Dental Implants in Patients With Osteoporosis Unknown status NCT00727493 Phase 4 alendronate once weekly 70mg;placebo
30 Effect of Vitamin D Supplement on Osteoprotegin Expression and Disease Progression in Patients With Chronic Kidney Disease Stage 1 and 2 Unknown status NCT01561222 Phase 4 Calcitriol;placebo
31 Comparación de la Eficacia y Seguridad clínicas de Osteofortil Respecto de Forteo Unknown status NCT01945788 Phase 4 Teriparatide (rDNA origin)
32 An Open-label Study of Combination of Cinacalcet and Active Vitamin D Analogue in the Management of Severe Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4 Combination Cinacalcet with Vitamin D analogue
33 Effectiveness of Bazedoxifene for Prevention of Glucocorticoid-induced Bone Loss in RA Patients Unknown status NCT02602704 Phase 4 Bazedoxifene;Calcium/Vit D
34 Pilot Study of the Effect of a Non-tenofovir, Non-efavirenz-based HIV Regimen on Bone Density and Vitamin D Levels in African-American Patients With HIV Infection Unknown status NCT01343225 Phase 4 atripla;darunavir ritonavir raltegravir
35 Effect of Alfacalcidol Supplementation to Respiratory Infection, Inflammatory Markers and CD4/CD8 Ratio of Indonesian Elderly Unknown status NCT03292744 Phase 4 Alfacalcidol
36 Phase 4 Study of Vitamin D3 Supplementation for Outcomes in Patients With Unipolar Depression Unknown status NCT01390662 Phase 4
37 Effect of Supplementary Vitamin D in Patients With Diabetes Mellitus and Pulmonary Tuberculosis (EVIDENT Study): a Randomized, Double Blind, Controlled Trial Unknown status NCT02169570 Phase 4
38 Effect of Vitamin D as Adjunctive Therapy in Patients With Pulmonary Evolution Tuberculosis in the National Institute of Respiratory Diseases Unknown status NCT02464683 Phase 4
39 Phase 4 Study of Oral Calcitriol for Reduction of Mild Proteinuria in Patients With CKD Unknown status NCT01820832 Phase 4 Calcitriol
40 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
41 Effect of Multi-vitamins With Minerals on Uric Acid Metabolism in Subjects With Hyperuricemia: A Randomized, Double-blinded, Placebo-controlled Trail Unknown status NCT03218709 Phase 4
42 Asthma and Vitamin D (a Clinical Pilot Study) Unknown status NCT00712205 Phase 4 Placebo;Calcitriol
43 Generic Zoledronic Acid Versus Original Zoledronic Acid: A Multicenter, Randomized, Open, Paralled-controlled Clinical Postmenopausal Osteoporotic Women Efficacy and Safety Research. Unknown status NCT03158246 Phase 4 Generic Zoledronic Acid;Original Zoledronic Acid
44 Influence of Vitamin K2 Administration on Vessel Calcification Markers in Patients With Chronic Kidney Disease Unknown status NCT01101698 Phase 4 Vitamin K2+10μg cholecalciferol;Vitamin D
45 A Randomized Study Comparing Goserelin or Expectant Management Following Laparoscopic Surgery for Advanced Endometriosis Unknown status NCT00654524 Phase 4 gonadotropin-releasing-hormone agonist (GnRHa) - Goserelin
46 Clinical Trial Technology Development for the Validation of Surrogate Prognostic Markers in Patients With Diabetic Nephropathy Unknown status NCT01673204 Phase 4 Calcitriol;Placebo
47 Evaluation of Potential Benefits of Using Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Unknown status NCT02652884 Phase 4 phosphate and betamethasone acetate, 2 mL.;saline 0.9% NaCl
48 Effects of Omega-3 Fatty Acids on Bone and Frailty Unknown status NCT00634686 Phase 4
49 Regulation of Bone Mineralization in Renal Osteodystrophy Unknown status NCT01799317 Phase 4 Vitamin D2
50 A One-year Randomized Controlled Trial Evaluating the Impact of Pioglitazone Versus Linagliptin on Bone Turnover Markers Unknown status NCT02429232 Phase 4 Pioglitazone;Linagliptin

Search NIH Clinical Center for Rickets

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Calcifediol Anhydrous
Calcitriol
Cod Liver Oil
Ergocalciferol
Sources

Genetic Tests for Rickets

About this section

Genetic tests related to Rickets:

# Genetic test Affiliating Genes
1 Rickets 29
Sources

Anatomical Context for Rickets

About this section

The Foundational Model of Anatomy Ontology organs/tissues related to Rickets:

19
Bone

MalaCards organs/tissues related to Rickets:

40
Bone, Kidney, Breast, Liver, Heart, Prostate, Skin
Sources

Publications for Rickets

About this section

Articles related to Rickets:

(show top 50) (show all 18368)
# Title Authors PMID Year
1
Association between vitamin D deficiency and cognitive function in the elderly Korean population: A Korean frailty and aging cohort study. 42 61
32080146 2020
2
Management of X-linked hypophosphatemia in adults. 42 61
31863781 2020
3
Nutritional Rickets - Ancient Malady or Modern Public Health Scourge? 42 61
31884437 2019
4
Association analysis between vitamin D level and depression in women perimenopause: A protocol of systematic review and meta-analysis. 42
32481343 2020
5
Vitamin D supplementation for nonalcoholic fatty liver disease in type 2 diabetes mellitus: A protocol for a systematic review and meta-analysis. 42
32384501 2020
6
The effect of vitamin D supplementation on the progression of fibrosis in patients with chronic liver disease: A protocol for a systematic review and meta-analysis. 42
32384521 2020
7
Association of vitamin D status with coronary artery disease in postmenopausal women. 42
32176108 2020
8
200.000 IU of vitamin D does not reduce resting Blood Pressure and Inhibit Post-Exercise Hypotension in elderly women: a pilot study. 42
32187256 2020
9
Take actions to bridge the gaps between China and other countries: in the aspect of markers of mineral bone disease from China Dialysis Outcomes and Practice Patterns Study phase 5. 42
31856046 2019
10
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 54 61
20513948 2010
11
Genetic disorders and defects in vitamin d action. 54 61
20511055 2010
12
Persistent secondary hyperparathyroidism and vertebral fractures in kidney transplantation: role of calcium-sensing receptor polymorphisms and vitamin D deficiency. 61 54
19839774 2010
13
Clinical measures identify vitamin D deficiency in dialysis. 61 54
20185603 2010
14
Physiological role of alkaline phosphatase explored in hypophosphatasia. 61 54
20392236 2010
15
A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets. 54 61
20146166 2010
16
Control of secondary hyperparathyroidism by vitamin D receptor agonists in chronic kidney disease. 54 61
20133492 2010
17
Vitamin D deficiency: appropriate replenishment therapies and the effects of vitamin D toxicity. 54 61
20363711 2010
18
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. 54 61
19965919 2010
19
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. 54 61
19815438 2010
20
Vitamin D receptor genetic polymorphisms and tuberculosis: updated systematic review and meta-analysis. 61 54
20003690 2010
21
Genetic causes of hypercalciuric nephrolithiasis. 54 61
18446382 2009
22
Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes. 54 61
19956103 2009
23
Vitamin D - a new treatment for airway remodelling in asthma? 54 61
19906117 2009
24
Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. 61 54
19523546 2009
25
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 54 61
19555782 2009
26
Predisposition to vitamin D deficiency osteomalacia and rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism. 54 61
19094076 2009
27
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 61 54
19609735 2009
28
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 61 54
19335222 2009
29
Emerging topics in pediatric bone and mineral disorders 2008. 61 54
19615558 2009
30
Relation between fibroblast growth factor-23, body weight and bone mineral density in elderly men. 61 54
18974917 2009
31
Impact of vitamin D deficiency on the clinical presentation and prognosis of patients with newly diagnosed multiple myeloma. 54 61
19415724 2009
32
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. 61 54
19309785 2009
33
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 61 54
19049339 2009
34
Is vitamin D deficiency involved in the immune reconstitution inflammatory syndrome? 61 54
19383117 2009
35
Hypophosphatemia: the common denominator of all rickets. 61 54
19504043 2009
36
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 54 61
18701809 2009
37
Management of secondary hyperparathyroidism in the elderly patient with chronic kidney disease. 61 54
19591520 2009
38
The vitamin D deficiency pandemic and consequences for nonskeletal health: mechanisms of action. 61 54
18801384 2008
39
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. 61 54
19169476 2008
40
Increased bone alkaline phosphatase and isolated subcortical bone uptake of technetium-99m hydroxymethylene diphosphonate in the lower extremities in a patient with Graves' disease: a distinctly unusual variant of Graves' acropachy. 54 61
19014329 2008
41
Vitamin D and human health: lessons from vitamin D receptor null mice. 54 61
18694980 2008
42
Control of autoimmune diseases by the vitamin D endocrine system. 61 54
18594491 2008
43
Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. 54 61
18476984 2008
44
Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. 54 61
18541802 2008
45
Rickets in the Middle East: role of environment and genetic predisposition. 61 54
18285415 2008
46
FGF23 is elevated in Gambian children with rickets. 54 61
18234575 2008
47
Ligand-independent regulation of the hairless promoter by vitamin D receptor. 54 61
18266815 2008
48
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. 61 54
18429807 2008
49
Matrix extracellular phosphoglycoprotein causes phosphaturia in rats by inhibiting tubular phosphate reabsorption. 54 61
18037620 2008
50
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 61 54
18172553 2008
Sources

Variations for Rickets

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ClinVar genetic disease variations for Rickets:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VDR NM_001017535.1(VDR):c.146+9dupduplication Conflicting interpretations of pathogenicity 308885 rs748166237 12:48272741-48272742 12:47878958-47878959
2 VDR NM_000376.3(VDR):c.-84+5056C>TSNV Uncertain significance 308890 rs886049439 12:48293682-48293682 12:47899899-47899899
3 CYP27B1 NM_000785.4(CYP27B1):c.*426_*428dupduplication Uncertain significance 309991 rs886049722 12:58156496-58156497 12:57762713-57762714
4 VDR NM_000376.3(VDR):c.*1235_*1239CCAGC[4]short repeat Uncertain significance 308850 rs11574130 12:48237279-48237280 12:47843496-47843497
5 VDR NM_000376.3(VDR):c.*1178A>CSNV Uncertain significance 308854 rs886049428 12:48237351-48237351 12:47843568-47843568
6 VDR NM_000376.3(VDR):c.*2102deldeletion Uncertain significance 308834 rs886049423 12:48236427-48236427 12:47842644-47842644
7 VDR NM_000376.3(VDR):c.*948_*950GAG[1]short repeat Uncertain significance 308855 rs886049429 12:48237576-48237578 12:47843793-47843795
8 VDR NM_000376.3(VDR):c.*2118_*2122deldeletion Uncertain significance 308830 rs17878969 12:48236407-48236411 12:47842624-47842628
9 CA1 NM_001128831.4(CA1):c.368_369del (p.His123fs)deletion Uncertain significance 694733 8:86245835-86245836 8:85333606-85333607
10 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe)SNV Uncertain significance 805882 11:68170984-68170984 11:68403516-68403516
11 HADHB NM_000183.3(HADHB):c.110-2324G>CSNV Uncertain significance 830363 rs764471823 2:26483924-26483924 2:26261056-26261056
12 VDR NM_000376.3(VDR):c.*2658dupduplication Uncertain significance 308817 rs886049413 12:48235870-48235871 12:47842087-47842088
13 VDR NM_000376.3(VDR):c.*2122dupduplication Uncertain significance 308831 rs17878969 12:48236406-48236407 12:47842623-47842624
14 VDR NM_000376.3(VDR):c.*2100_*2105deldeletion Uncertain significance 308833 rs886049422 12:48236424-48236429 12:47842641-47842646
15 VDR NM_000376.3(VDR):c.*1253T>ASNV Uncertain significance 308849 rs886049427 12:48237276-48237276 12:47843493-47843493
16 VDR NM_000376.3(VDR):c.*1179deldeletion Uncertain significance 308853 rs530894692 12:48237350-48237350 12:47843567-47843567
17 VDR NM_000376.3(VDR):c.*2391C>GSNV Uncertain significance 308821 rs886049415 12:48236138-48236138 12:47842355-47842355
18 VDR NM_000376.3(VDR):c.*2124dupduplication Uncertain significance 308829 rs886049419 12:48236404-48236405 12:47842621-47842622
19 VDR NM_000376.3(VDR):c.*2117_*2122deldeletion Benign 308832 rs17878969 12:48236407-48236412 12:47842624-47842629
Sources

Expression for Rickets

About this section
Search GEO for disease gene expression data for Rickets.
Sources

Pathways for Rickets

About this section

Pathways related to Rickets according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100
2 Endocrine and other factor-regulated calcium reabsorption hsa04961
3 Mineral absorption hsa04978

Pathways related to Rickets according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.41 GC ENPP1 CYP2R1 CYP27B1 CYP24A1
2
Metabolism of fat-soluble vitamins 65
Show member pathways
 12.11 GC CYP2R1 CYP27B1 CYP24A1
3
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.66 PTH BGLAP ALPP
4
cholesterol biosynthesis III (via desmosterol) 1
Show member pathways
 11.55 CYP2R1 CYP27B1 CYP24A1
5
Endochondral Ossification 1
11.45 PTH ENPP1 ALPL
6
Mineral absorption 36
11.37 VDR SLC34A3 SLC34A1
7
Parathyroid hormone synthesis, secretion and action 36
11.3 VDR SLC34A3 SLC34A1 PTH FGF23 CYP27B1
8
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.21 VDR PTH CYP27B1 CYP24A1 BGLAP
9
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.14 VDR PTH BGLAP
10
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.04 VDR CYP27B1 CYP24A1
11
Thiamine metabolism 36
10.73 ALPP ALPL
12
Osteoblast Signaling 1
10.58 PTH FGF23 BGLAP
13
Vitamin D Metabolism 1
10.43 VDR PTH GC CYP2R1 CYP27B1 CYP24A1
Sources

GO Terms for Rickets

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Cellular components related to Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.26 MEPE FGF23 DMP1 BGLAP
2 cell GO:0005623 9.17 VDR SLC34A3 SLC34A1 PTH FGF23 ENPP1

Biological processes related to Rickets according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.91 SLC34A1 MEPE FGF23 DMP1
2 skeletal system development GO:0001501 9.85 VDR PTH PHEX MEPE BGLAP ALPL
3 ossification GO:0001503 9.84 SLC34A1 DMP1 CASR BGLAP
4 osteoblast differentiation GO:0001649 9.81 CYP24A1 BGLAP ALPL
5 cellular calcium ion homeostasis GO:0006874 9.8 VDR PTH CASR
6 bone mineralization GO:0030282 9.76 PHEX CYP27B1 BGLAP
7 regulation of bone mineralization GO:0030500 9.76 FGF23 ENPP1 CYP27B1 BGLAP
8 cellular response to parathyroid hormone stimulus GO:0071374 9.69 SLC34A1 PHEX FGF23
9 vitamin metabolic process GO:0006766 9.67 CYP2R1 CYP27B1 CYP24A1
10 response to lead ion GO:0010288 9.65 SLC34A1 PTH
11 phosphate-containing compound metabolic process GO:0006796 9.65 FGF23 ENPP1
12 response to metal ion GO:0010038 9.65 CYP2R1 CASR
13 phosphate ion homeostasis GO:0055062 9.65 SLC34A1 PTH FGF23
14 positive regulation of keratinocyte differentiation GO:0045618 9.64 VDR CYP27B1
15 negative regulation of bone mineralization GO:0030502 9.64 FGF23 ENPP1
16 biomineral tissue development GO:0031214 9.63 PHEX MEPE ENPP1 DMP1 BGLAP ALPL
17 response to growth hormone GO:0060416 9.62 SLC34A1 PHEX
18 response to magnesium ion GO:0032026 9.62 SLC34A1 FGF23
19 cellular response to vitamin D GO:0071305 9.62 PHEX FGF23 CASR BGLAP
20 phosphate ion transport GO:0006817 9.61 SLC34A3 SLC34A1
21 vitamin D catabolic process GO:0042369 9.61 FGF23 CYP27B1 CYP24A1
22 response to fibroblast growth factor GO:0071774 9.6 PTH CASR
23 response to parathyroid hormone GO:0071107 9.59 SLC34A1 PTH
24 calcitriol biosynthetic process from calciol GO:0036378 9.58 CYP2R1 CYP27B1
25 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.58 VDR FGF23 CYP27B1
26 response to sodium phosphate GO:1904383 9.57 PHEX FGF23
27 vitamin D receptor signaling pathway GO:0070561 9.56 VDR CYP24A1
28 cellular phosphate ion homeostasis GO:0030643 9.56 SLC34A3 SLC34A1 FGF23 ENPP1
29 sodium-dependent phosphate transport GO:0044341 9.55 SLC34A3 SLC34A1
30 vitamin D biosynthetic process GO:0042368 9.52 CYP2R1 CYP27B1
31 response to vitamin D GO:0033280 9.43 PTH PHEX CYP27B1 CYP24A1 BGLAP ALPL
32 vitamin D metabolic process GO:0042359 9.1 VDR GC FGF23 CYP2R1 CYP27B1 CYP24A1

Molecular functions related to Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.06 VDR PHEX FAH ENPP1 CYP2R1 CYP27B1
2 monooxygenase activity GO:0004497 9.58 CYP2R1 CYP27B1 CYP24A1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.54 CYP2R1 CYP27B1 CYP24A1
4 sodium:phosphate symporter activity GO:0005436 9.26 SLC34A3 SLC34A1
5 vitamin D binding GO:0005499 9.16 VDR GC
6 alkaline phosphatase activity GO:0004035 8.96 ALPP ALPL
7 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1
Sources

Sources for Rickets

About this section
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
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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