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VDDR
MCID: RCK004
MIFTS: 65

Rickets (VDDR)

Categories: Bone diseases, Immune diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Rickets

About this section

MalaCards integrated aliases for Rickets:

Name: Rickets 12 76 53 29 55 43 44 15 73
Vitamin D-Dependent Rickets 12 25 37 6 73
Vitamin D Deficiency 55 43 73
Vitamin D Hydroxylation-Deficient Rickets 12
Vitamin D Deficiency Disease 53
Vitamin-D Deficiency Rickets 53
Nutritional Rickets 53
Hypovitaminosis D 53
Active Rickets 12
Vitamin D 43
Vddr 25

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Bone diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:10609
ICD10 33 E55.0 E55
ICD9CM 35 268.0
MeSH 44 D012279
NCIt 50 C26878
SNOMED-CT 68 41345002 68295002
KEGG 37 H01143
Sources

Summaries for Rickets

About this section
MedlinePlus : 43 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. 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-dependent rickets, is related to vitamin d-dependent rickets, type 2a and hypophosphatemic rickets, autosomal dominant, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Rickets is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways/superpathways are Steroid biosynthesis and Endocrine and other factor-regulated calcium reabsorption. The drugs Tocopherol and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are homeostasis/metabolism and growth/size/body region

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.

NIH Rare Diseases : 53 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.

Wikipedia : 76 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 931)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 34.3 CYP27B1 PHEX VDR
2 hypophosphatemic rickets, autosomal dominant 34.1 FGF23 PHEX SLC34A3
3 hereditary hypophosphatemic rickets 33.9 SLC34A1 SLC34A3
4 hypocalcemic vitamin d-dependent rickets 33.8 CYP27B1 CYP2R1
5 autosomal recessive hypophosphatemic rickets 33.7 DMP1 ENPP1 FGF23 PHEX
6 hypophosphatemic rickets, x-linked dominant 33.4 DMP1 FGF23 PHEX PTH SLC34A1 SLC34A3
7 hypophosphatemic rickets, x-linked recessive 33.3 CLCN5 CYP27B1 DMP1 ENPP1 FGF23 PHEX
8 hypophosphatemic rickets with hypercalciuria, hereditary 32.9 CYP27B1 DMP1 ENPP1 FGF23 PHEX PTH
9 hypercalcemia, infantile, 1 32.2 PTH VDR
10 renal osteodystrophy 32.0 BGLAP FGF23 PTH VDR
11 osteomalacia 31.8 ALPL BGLAP DMP1 FGF23 PHEX PTH
12 glucocorticoid-induced osteoporosis 31.7 BGLAP PTH
13 hypocalcemia, autosomal dominant 1 31.7 FGF23 PTH VDR
14 hypophosphatasia 31.4 ALPL ENPP1 PHEX
15 ossification of the posterior longitudinal ligament of spine 31.4 BGLAP ENPP1
16 axial osteomalacia 31.2 BGLAP PTH
17 osteoporosis, juvenile 30.9 BGLAP GC PTH
18 hypophosphatasia, adult 30.8 ALPL BGLAP ENPP1 PTH
19 calcinosis 30.1 ENPP1 FGF23 PHEX
20 hyperparathyroidism 30.0 BGLAP CYP27B1 FGF23 PHEX PTH VDR
21 arterial calcification of infancy 30.0 ENPP1 FGF23 PHEX
22 nephrocalcinosis 29.9 CLCN5 PHEX PTH SLC34A1 SLC34A3
23 opsismodysplasia 29.8 FGF23 PHEX
24 idiopathic hypercalciuria 29.8 BGLAP CLCN5 SLC34A3 VDR
25 chronic kidney failure 29.8 BGLAP CYP27B1 FGF23 PTH VDR
26 oncogenic osteomalacia 29.8 DMP1 FGF23 PHEX PTH
27 enthesopathy 29.7 DMP1 FGF23 PHEX
28 calciphylaxis 29.7 FGF23 PTH VDR
29 nephrolithiasis, calcium oxalate 29.7 CLCN5 SLC34A1 VDR
30 primary hyperparathyroidism 29.6 BGLAP FGF23 PTH VDR
31 hypervitaminosis d 29.6 CYP27B1 FGF23 PTH VDR
32 secondary hyperparathyroidism of renal origin 29.5 BGLAP CYP27B1 FGF23 PTH VDR
33 osteitis fibrosa 29.5 BGLAP PTH
34 hypophosphatemia 29.4 BGLAP CLCN5 DMP1 ENPP1 FGF23 PHEX
35 bone disease 29.3 ALPL BGLAP FGF23 PTH SLC34A3 VDR
36 spondylosis 29.3 PTH VDR
37 nephrolithiasis 29.2 CLCN5 FGF23 PTH SLC34A1 SLC34A3 VDR
38 bone resorption disease 29.2 BGLAP PTH VDR
39 parathyroid adenoma 29.2 BGLAP PTH VDR
40 hypoparathyroidism 29.2 BGLAP FGF23 PTH
41 kidney disease 29.2 CLCN5 FGF23 PTH VDR
42 hyperphosphatemia 29.1 FGF23 PHEX PTH SLC34A1 VDR
43 osteoporosis 28.4 ALPL BGLAP CYP27B1 FGF23 GC PTH
44 vitamin d hydroxylation-deficient rickets, type 1a 12.5
45 vitamin d hydroxylation-deficient rickets, type 1b 12.5
46 hypophosphatemic rickets, autosomal recessive, 2 12.4
47 hypophosphatemic rickets, autosomal recessive, 1 12.3
48 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 12.3
49 hypophosphatemic rickets and hyperparathyroidism 12.2
50 epidermal nevus vitamin d resistant rickets 11.9

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

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UMLS symptoms related to Rickets:


back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Rickets:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ALPL CLCN5 CYP27B1 CYP2R1 DMP1 ENPP1
2 growth/size/body region MP:0005378 10.15 ALPL CLCN5 CYP27B1 DMP1 ENPP1 FAH
3 cellular MP:0005384 10.11 ALPL CLCN5 CYP27B1 DMP1 ENPP1 FAH
4 cardiovascular system MP:0005385 10.08 ALPL CYP27B1 DMP1 ENPP1 FGF23 PHEX
5 endocrine/exocrine gland MP:0005379 10.01 ALPL CYP27B1 FAH FGF23 GC PHEX
6 craniofacial MP:0005382 9.98 ALPL CLCN5 CYP27B1 DMP1 PHEX PTH
7 immune system MP:0005387 9.91 ALPL CYP27B1 DMP1 ENPP1 FAH FGF23
8 limbs/digits/tail MP:0005371 9.76 ALPL CYP27B1 DMP1 ENPP1 FGF23 PHEX
9 renal/urinary system MP:0005367 9.65 CLCN5 CYP27B1 DMP1 ENPP1 FAH FGF23
10 skeleton MP:0005390 9.44 ALPL CLCN5 CYP27B1 CYP2R1 DMP1 ENPP1
Sources

Drugs & Therapeutics for Rickets

About this section

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

(show top 50) (show all 147)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2 14986
2
Benzocaine Approved, Investigational Phase 4,Phase 2 94-09-7, 1994-09-7 2337
3 tannic acid Approved Phase 4,Phase 2
4
Calcium Carbonate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 471-34-1
5
Zoledronic acid Approved Phase 4 118072-93-8 68740
6
Pamidronate Approved Phase 4 40391-99-9 4674
7
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-14-6 5280793
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1406-16-2
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
10
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 67-97-0 5280795 6221
11
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 11103-57-4, 68-26-8 445354
12
Alfacalcidol Approved, Nutraceutical Phase 4,Early Phase 1,Not Applicable 41294-56-8 5282181
13
Calcitriol Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 32222-06-3 5280453 134070
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 59-30-3 6037
15 Tocotrienol Investigational Phase 4 6829-55-6
16 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Calciferol Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Vitamin D2 Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Tocopherols Phase 4
24 Tocotrienols Phase 4
25 Retinol palmitate Phase 4,Not Applicable
26 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 retinol Phase 4,Not Applicable
28 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Hydroxycholecalciferols Phase 4,Phase 3,Not Applicable,Early Phase 1
30 Calcifediol Phase 4,Phase 3,Not Applicable,Early Phase 1 19356-17-3
31 Olive Phase 4,Phase 3,Phase 2
32 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Not Applicable
33 insulin Phase 4,Phase 3,Phase 2,Not Applicable
34 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Early Phase 1
35 Diphosphonates Phase 4
36 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
37 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
38 Immunoglobulin G Phase 4,Phase 2,Phase 3,Phase 1
39 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
40 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Antacids Phase 4,Phase 3,Phase 2,Phase 1
43 Vitamin B9 Phase 4,Phase 3,Not Applicable
44 Folate Phase 4,Phase 3,Not Applicable
45 Vitamin B Complex Phase 4,Phase 3,Not Applicable
46 Anticonvulsants Phase 4
47 Vasoconstrictor Agents Phase 4,Phase 2,Not Applicable
48
Sevelamer Approved Phase 3,Phase 2 52757-95-6
49
Chromium Approved Phase 3 7440-47-3 27668
50
Treprostinil Approved, Investigational Phase 2, Phase 3 81846-19-7 54786 6918140

Interventional clinical trials:

(show top 50) (show all 206)
# Name Status NCT ID Phase Drugs
1 Vitamin D and Inflammatory Markers of Cardiovascular Disease in African Americans With Type 2 Diabetes Unknown status NCT01153243 Phase 4 Ergocalciferol;Placebo pill
2 Determination of Vitamin D Dose to Maintain Sufficiency Amongst Indian and Malay Women in the Tropics Unknown status NCT02389179 Phase 4 Vitamin D3
3 Optimizing Treatment Programs for Chronic Kidney Disease-mineral and Bone Disorder and Malnutrition Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
4 Role of Calcium And Vitamin D In Nutritional Rickets And It's Management Completed NCT01578434 Phase 4 Vitamin D;Calcium Carbonate;Vitamin D and Calcium
5 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
6 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
7 Effect of Three Different Doses of Oral Cholecalciferol on 25-Hydroxyvitamin D Changes Among Epilepsy Patients With Hypovitaminosis D Completed NCT02890823 Phase 4 Cholecalciferol
8 A Study on Oral Vitamin D Megadoses Completed NCT01067898 Phase 4
9 Study of Effect of Calcifediol Supplementation on Cardiopathic Subjects Undergoing Major Orthopedic Surgery Completed NCT03403933 Phase 4 Didrogyl
10 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
11 Study Comparing Two Vitamin D Supplements for Infants: Liquid Versus D-Strips Completed NCT00846677 Phase 4
12 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Status in Healthy Adults Completed NCT01924910 Phase 4
13 Vitamin D Supplementation for the Prevention of Cardiovascular Risk Completed NCT02020694 Phase 4 Vitamin D;Placebo (for vitamin D)
14 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
15 Vitamin Deficiency in Immigrants, a Treatment Study Completed NCT01419119 Phase 4 Cholecalciferol;Cholecalciferol;Cholecalciferol;Cholecalciferol
16 Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation Completed NCT01675089 Phase 4 Zoledronic acid
17 Efficacy of Vitamin D2 to Treat Chronic Kidney Disease Mineral and Bone Disorder Completed NCT01633853 Phase 4 Vitamin D2;1,25(OH)2 Vit D3
18 Osteopenia and Renal Osteodystrophy: Evaluation and Management Completed NCT00108394 Phase 4 pamidronate
19 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4 25 OH vitamin D
20 Optimal Doses of Ergocalciferol Supplementation for Treatment of Hypovitaminosis D in Adults Enrolling by invitation NCT03228862 Phase 4 Ergocalciferol
21 Effects of Supplementation of Vitamin D in Patients With Crohn`s Disease Enrolling by invitation NCT02704624 Phase 4
22 Kabul Vitamin D Supplementation Trial Unknown status NCT00548379 Phase 3 vitamin D;placebo
23 Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients Unknown status NCT00752401 Phase 3 Cholecalciferol;Placebo
24 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
25 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
26 The Effect of Vitamin D Supplementation Among Overweight Jordanian Women With Polycystic Ovary Syndrome (PCOS) Completed NCT02328404 Phase 3 50,000 IU vitamin D3;Placebo
27 Hypovitaminosis D : A Link Between Bone/Mineral and Fat/Fuel Metabolism Completed NCT01315366 Phase 3
28 Vitamin D Supplementation in Breastfeeding Women Completed NCT01240265 Phase 2, Phase 3
29 Importance of Dosing Regimen for the Effect of Vitamin D Supplementation Completed NCT03272126 Phase 3 Vitamin D;Placebo
30 High Dose Preoperative Cholecalciferol Supplementation and Perioperative Vitamin D Status Completed NCT01689779 Phase 3 100,000 IU cholecalciferol;Placebo
31 Cholecalciferol Supplementation for Sepsis in the ICU Completed NCT01896544 Phase 3
32 Controlled Trial of Prenatal Vitamin D3 Supplementation to Prevent Vitamin D Deficiency in Mothers and Their Infants Completed NCT00610688 Phase 3 Prenatal Vitamin;Cholecalciferol (Vitamin D3);Cholecalciferol (Vitamin D3)
33 Vitamin D, Blood Pressure, Lipids, Infection and Depression Completed NCT00960232 Phase 3 Cholecalciferol;placebo
34 Vitamin D and Muscle Strength and Surface (Electromyography) EMG Completed NCT01190683 Phase 3 Cholecalciferol;Calcium Carbonate;cholecalciferol and calcium carbonate
35 Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
36 GAit, MEmory, Dietary and Vitamin D Completed NCT02086409 Phase 2, Phase 3
37 Controlled, Randomized, Four-arm Comparative, Open Label, Multi-centric Clinical Trial to Compare the Efficacy and Safety Parameters of the Once-a-week or Once-a-month Administered 7000 IU, or 30000 IU Vitamin D (Cholecalciferol) to a 1000 IU Dosage Applied Daily in Vitamin D Deficient Patients Completed NCT02069990 Phase 3 Cholecalciferol
38 Vitamin D Status of Pregnant Women and Their Children in Eau Claire, South Carolina Completed NCT00412087 Phase 3 cholecalciferol (vitamin D3);cholecalciferol;cholecalciferol
39 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
40 Improving the Understanding of the Response to Vitamin D Supplementation Completed NCT01465178 Phase 3
41 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
42 Study Comparing Two Isoforms of Vitamin D Supplements for Infants Completed NCT01190137 Phase 3
43 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
44 Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE Recruiting NCT02630316 Phase 2, Phase 3 Inhaled Treprostinil;Placebo
45 Vitamin C, Thiamine, and Steroids in Sepsis Recruiting NCT03509350 Phase 3 Vitamin C;Thiamine;Hydrocortisone;Vitamin C Placebo;Thiamine Placebo;Hydrocortisone Placebo
46 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
47 Hypovitaminosis D in Neurocritical Patients Active, not recruiting NCT02881957 Phase 2, Phase 3 Cholecalciferol
48 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
49 Effect of Vitamin D Replacement on Maternal and Neonatal Outcomes Active, not recruiting NCT02434380 Phase 3
50 Targeting Inflammation Using Salsalate in CardioVascular Disease Active, not recruiting NCT00624923 Phase 2, Phase 3 Salsalate;Placebo

Search NIH Clinical Center for Rickets

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: rickets

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

MalaCards organs/tissues related to Rickets:

41
Bone, Skin, Liver, Kidney, Heart, Testes, Thyroid

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

19
Bone
Sources

Publications for Rickets

About this section

Articles related to Rickets:

(show top 50) (show all 1673)
# Title Authors Year
1
Hypophosphatemic Rickets. ( 30454743 )
2019
2
Cortical Matrix Mineral Density Measured Noninvasively in Pre- and Postmenopausal Women and a Woman With Vitamin D-Dependent Rickets. ( 29489033 )
2018
3
Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. ( 29610183 )
2018
4
Associations Between Maternal Nutrition Knowledge, Attitude, and Practice and 25-Hydroxyvitamin D Levels and Rickets in Children in Xinjiang Province, People's Republic of China. ( 29652179 )
2018
5
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. ( 29692463 )
2018
6
HYPOPHOSPHATEMIC RICKETS: CASE REPORT. ( 29617471 )
2018
7
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. ( 29858904 )
2018
8
CYP3A4 mutation causes vitamin D-dependent rickets type 3. ( 29461981 )
2018
9
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation. ( 29949513 )
2018
10
The relationship between maternal and child bone density in Nigerian children with and without nutritional rickets. ( 29487981 )
2018
11
Rickets presenting as gross motor delay in twin girls. ( 29735534 )
2018
12
Vitamin D: part I; from plankton and calcified skeletons (500 million years ago) to rickets. ( 29504055 )
2018
13
Rare, genetically conditioned forms of rickets - differential diagnosis and advances in diagnostics and treatment. ( 29417983 )
2018
14
Targeted resequencing of phosphorus metabolisma89related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
15
Rickets re-emerging: a cautionary tale. ( 29869369 )
2018
16
Genetics of Refractory Rickets: Identification of Novel <i>PHEX</i> Mutations in Indian Patients and a Literature Update. ( 29707405 )
2018
17
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases. ( 29809158 )
2018
18
Supplementation in hypophosphataemic rickets: the bare bones of management. ( 29970592 )
2018
19
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
20
Nutritional Rickets Presenting as Chronic Episodic Extremity Pain in a 9-year-old with Autism. ( 30083645 )
2018
21
Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports. ( 30075510 )
2018
22
Reversible myelofibrosis due to severe Vitamin D deficiency rickets. ( 30449934 )
2018
23
Prevention of rickets and osteomalacia in the UK: political action overdue. ( 29661756 )
2018
24
Vitamin D deficiency in bioarchaeology and beyond: The study of rickets and osteomalacia in the past. ( 30061000 )
2018
25
Nutritional rickets among children admitted with severe pneumonia at Mulago hospital, Uganda: a cross-sectional study. ( 30373538 )
2018
26
Oral manifestations of renal tubular acidosis associated with secondary rickets: case report. ( 30199559 )
2018
27
Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience. ( 30555810 )
2018
28
Selective rickets from localized advanced maturation-a case report. ( 30456554 )
2018
29
Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets. ( 30406928 )
2018
30
Mutation update and long-term outcome after treatment with active vitamin D3 in Chinese patients with pseudovitamin D-deficiency rickets (PDDR). ( 30382318 )
2018
31
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR). ( 30352126 )
2018
32
Elemental formula associated hypophosphataemic rickets. ( 30314926 )
2018
33
PHPT Masquerading as Rickets in Children and Presenting with Rare Skeletal Manifestations: Report of Three Cases and Review of Literature. ( 30294584 )
2018
34
Genetic and clinical characteristics of the patients with Vitamin D Dependent Rickets Type 1A. ( 30282619 )
2018
35
Endochondral growth disruption during vitamin D deficiency rickets in a mid-19th century series from Bethnal Green, London, UK. ( 30129025 )
2018
36
X-linked vitamin D-resistant rickets: 12 years of follow-up. ( 30123412 )
2018
37
Hypocalcaemic and hypophosphatemic rickets. ( 30086869 )
2018
38
The frequency of clinical manifestations of hypophosphatemic rickets in patients with therapeutic strategies. ( 30069302 )
2018
39
50 Years Ago in The Journal of Pediatrics: Vitamin D Deficiency Rickets in Greece. ( 30049391 )
2018
40
Compressive Cervical Myelopathy in X-Linked Hypophosphataemic Rickets. ( 30032730 )
2018
41
The roles of vitamin D and dietary calcium in nutritional rickets. ( 29955625 )
2018
42
Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. ( 29393334 )
2018
43
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ( 30109410 )
2018
44
Molecular analysis of enthesopathy in a mouse model of hypophosphatemic rickets. ( 30002128 )
2018
45
QUALITY OF LIFE OF CHILDREN WITH RICKETS IN YOUNG AGE IN ARMENIA. ( 28452729 )
2017
46
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
47
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
48
Erroneous diagnosis of rickets. ( 29062254 )
2017
49
Vitamin D resistant rickets: What an anesthesiologist should know. ( 29416255 )
2017
50
TowardsA Optimizing Calcium and Phosphate Concentration in Parenteral Nutrition for Premature Neonates to Minimize Rickets of Prematurity. ( 28054234 )
2017
Sources

Variations for Rickets

About this section

ClinVar genetic disease variations for Rickets:

6 (show top 50) (show all 208)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27B1 NM_000785.3(CYP27B1): c.*722C> G single nucleotide variant Uncertain significance rs886049720 GRCh37 Chromosome 12, 58156203: 58156203
2 CYP27B1 NM_000785.3(CYP27B1): c.*722C> G single nucleotide variant Uncertain significance rs886049720 GRCh38 Chromosome 12, 57762420: 57762420
3 CYP27B1 NM_000785.3(CYP27B1): c.*635G> A single nucleotide variant Uncertain significance rs533718329 GRCh37 Chromosome 12, 58156290: 58156290
4 CYP27B1 NM_000785.3(CYP27B1): c.*635G> A single nucleotide variant Uncertain significance rs533718329 GRCh38 Chromosome 12, 57762507: 57762507
5 VDR NM_001017535.1(VDR): c.*1805A> T single nucleotide variant Uncertain significance rs886049426 GRCh38 Chromosome 12, 47842941: 47842941
6 VDR NM_001017535.1(VDR): c.*437C> G single nucleotide variant Uncertain significance rs11574119 GRCh38 Chromosome 12, 47844309: 47844309
7 VDR NM_001017535.1(VDR): c.*437C> G single nucleotide variant Uncertain significance rs11574119 GRCh37 Chromosome 12, 48238092: 48238092
8 VDR NM_001017535.1(VDR): c.*409G> A single nucleotide variant Uncertain significance rs11574118 GRCh38 Chromosome 12, 47844337: 47844337
9 VDR NM_001017535.1(VDR): c.*409G> A single nucleotide variant Uncertain significance rs11574118 GRCh37 Chromosome 12, 48238120: 48238120
10 VDR NM_001017535.1(VDR): c.*405G> T single nucleotide variant Uncertain significance rs886049432 GRCh38 Chromosome 12, 47844341: 47844341
11 VDR NM_001017535.1(VDR): c.*405G> T single nucleotide variant Uncertain significance rs886049432 GRCh37 Chromosome 12, 48238124: 48238124
12 VDR NM_001017535.1(VDR): c.*387C> G single nucleotide variant Uncertain significance rs886049433 GRCh38 Chromosome 12, 47844359: 47844359
13 VDR NM_001017535.1(VDR): c.*387C> G single nucleotide variant Uncertain significance rs886049433 GRCh37 Chromosome 12, 48238142: 48238142
14 VDR NM_001017535.1(VDR): c.*308C> A single nucleotide variant Likely benign rs739837 GRCh38 Chromosome 12, 47844438: 47844438
15 VDR NM_001017535.1(VDR): c.*308C> A single nucleotide variant Likely benign rs739837 GRCh37 Chromosome 12, 48238221: 48238221
16 VDR NM_001017535.1(VDR): c.*298C> T single nucleotide variant Uncertain significance rs886049434 GRCh38 Chromosome 12, 47844448: 47844448
17 VDR NM_001017535.1(VDR): c.*298C> T single nucleotide variant Uncertain significance rs886049434 GRCh37 Chromosome 12, 48238231: 48238231
18 VDR NM_001017535.1(VDR): c.1131C> T (p.His377=) single nucleotide variant Uncertain significance rs201868713 GRCh37 Chromosome 12, 48238682: 48238682
19 VDR NM_001017535.1(VDR): c.1131C> T (p.His377=) single nucleotide variant Uncertain significance rs201868713 GRCh38 Chromosome 12, 47844899: 47844899
20 VDR NM_001017535.1(VDR): c.908-14A> G single nucleotide variant Uncertain significance rs11574107 GRCh37 Chromosome 12, 48240248: 48240248
21 VDR NM_001017535.1(VDR): c.908-14A> G single nucleotide variant Uncertain significance rs11574107 GRCh38 Chromosome 12, 47846465: 47846465
22 VDR NM_001017535.1(VDR): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs144756403 GRCh37 Chromosome 12, 48240458: 48240458
23 VDR NM_001017535.1(VDR): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs144756403 GRCh38 Chromosome 12, 47846675: 47846675
24 VDR NM_001017535.1(VDR): c.755+13T> C single nucleotide variant Uncertain significance rs768024598 GRCh37 Chromosome 12, 48249400: 48249400
25 VDR NM_001017535.1(VDR): c.755+13T> C single nucleotide variant Uncertain significance rs768024598 GRCh38 Chromosome 12, 47855617: 47855617
26 VDR NM_001017535.1(VDR): c.146+9dupT duplication Uncertain significance rs748166237 GRCh37 Chromosome 12, 48272742: 48272742
27 VDR NM_001017535.1(VDR): c.146+9dupT duplication Uncertain significance rs748166237 GRCh38 Chromosome 12, 47878959: 47878959
28 VDR NM_001017535.1(VDR): c.146+8C> T single nucleotide variant Likely benign rs10783218 GRCh37 Chromosome 12, 48272743: 48272743
29 CYP27B1 NM_000785.3(CYP27B1): c.-22C> G single nucleotide variant Uncertain significance rs146281435 GRCh37 Chromosome 12, 58160846: 58160846
30 CYP27B1 NM_000785.3(CYP27B1): c.-22C> G single nucleotide variant Uncertain significance rs146281435 GRCh38 Chromosome 12, 57767063: 57767063
31 CYP27B1 NM_000785.3(CYP27B1): c.348C> T (p.His116=) single nucleotide variant Uncertain significance rs372771210 GRCh37 Chromosome 12, 58159828: 58159828
32 CYP27B1 NM_000785.3(CYP27B1): c.348C> T (p.His116=) single nucleotide variant Uncertain significance rs372771210 GRCh38 Chromosome 12, 57766045: 57766045
33 CYP27B1 NM_000785.3(CYP27B1): c.1385A> T (p.Glu462Val) single nucleotide variant Uncertain significance rs886049725 GRCh37 Chromosome 12, 58157422: 58157422
34 CYP27B1 NM_000785.3(CYP27B1): c.1385A> T (p.Glu462Val) single nucleotide variant Uncertain significance rs886049725 GRCh38 Chromosome 12, 57763639: 57763639
35 CYP27B1 NM_000785.3(CYP27B1): c.*76G> A single nucleotide variant Uncertain significance rs147119803 GRCh38 Chromosome 12, 57763066: 57763066
36 CYP27B1 NM_000785.3(CYP27B1): c.*76G> A single nucleotide variant Uncertain significance rs147119803 GRCh37 Chromosome 12, 58156849: 58156849
37 CYP27B1 NM_000785.3(CYP27B1): c.*295G> A single nucleotide variant Uncertain significance rs886049724 GRCh38 Chromosome 12, 57762847: 57762847
38 CYP27B1 NM_000785.3(CYP27B1): c.*295G> A single nucleotide variant Uncertain significance rs886049724 GRCh37 Chromosome 12, 58156630: 58156630
39 CYP27B1 NM_000785.3(CYP27B1): c.*426_*428dupTAA duplication Uncertain significance rs886049722 GRCh38 Chromosome 12, 57762714: 57762716
40 CYP27B1 NM_000785.3(CYP27B1): c.*426_*428dupTAA duplication Uncertain significance rs886049722 GRCh37 Chromosome 12, 58156497: 58156499
41 VDR NM_001017535.1(VDR): c.-250G> A single nucleotide variant Uncertain significance rs886049440 GRCh37 Chromosome 12, 48298782: 48298782
42 VDR NM_001017535.1(VDR): c.-250G> A single nucleotide variant Uncertain significance rs886049440 GRCh38 Chromosome 12, 47904999: 47904999
43 VDR NM_001017535.1(VDR): c.-202T> C single nucleotide variant Uncertain significance rs752094022 GRCh37 Chromosome 12, 48293738: 48293738
44 VDR NM_001017535.1(VDR): c.-202T> C single nucleotide variant Uncertain significance rs752094022 GRCh38 Chromosome 12, 47899955: 47899955
45 VDR NM_001017535.1(VDR): c.-146C> T single nucleotide variant Uncertain significance rs886049439 GRCh38 Chromosome 12, 47899899: 47899899
46 VDR NM_001017535.1(VDR): c.-146C> T single nucleotide variant Uncertain significance rs886049439 GRCh37 Chromosome 12, 48293682: 48293682
47 VDR NM_001017535.1(VDR): c.146+8C> T single nucleotide variant Likely benign rs10783218 GRCh38 Chromosome 12, 47878960: 47878960
48 VDR NM_001017535.1(VDR): c.*1805A> T single nucleotide variant Uncertain significance rs886049426 GRCh37 Chromosome 12, 48236724: 48236724
49 VDR NM_001017535.1(VDR): c.*1865G> A single nucleotide variant Uncertain significance rs11540149 GRCh38 Chromosome 12, 47842881: 47842881
50 VDR NM_001017535.1(VDR): c.*1865G> A single nucleotide variant Uncertain significance rs11540149 GRCh37 Chromosome 12, 48236664: 48236664
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:

37
# 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:

# Super pathways Score Top Affiliating Genes
1
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.31 CYP27B1 CYP2R1 ENPP1 GC
2
Parathyroid hormone synthesis, secretion and action 37
11.53 BGLAP CYP27B1 FGF23 PTH SLC34A1 SLC34A3
3
Endochondral Ossification 1
11.36 ALPL ENPP1 PTH
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.11 BGLAP CYP27B1 PTH VDR
5
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.09 BGLAP PTH VDR
6
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.98 CYP27B1 VDR
7
Osteoblast Signaling 1
10.58 BGLAP FGF23 PTH
8
Vitamin D Metabolism 1
10.02 CYP27B1 CYP2R1 GC PTH VDR
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 extracellular region GO:0005576 9.5 ALPL BGLAP DMP1 ENPP1 FGF23 GC
2 vesicle GO:0031982 8.8 BGLAP SLC34A1 SLC34A3

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.85 ALPL BGLAP PHEX PTH VDR
2 calcium ion transport GO:0006816 9.8 CYP27B1 PTH VDR
3 ossification GO:0001503 9.76 BGLAP DMP1 SLC34A1
4 bone mineralization GO:0030282 9.71 BGLAP CYP27B1 PHEX PTH
5 cellular response to vitamin D GO:0071305 9.67 BGLAP FGF23 PHEX
6 cellular response to parathyroid hormone stimulus GO:0071374 9.65 FGF23 PHEX SLC34A1
7 biomineral tissue development GO:0031214 9.65 ALPL BGLAP DMP1 ENPP1 PHEX
8 response to cadmium ion GO:0046686 9.63 PTH SLC34A1
9 decidualization GO:0046697 9.63 CYP27B1 VDR
10 response to lead ion GO:0010288 9.62 PTH SLC34A1
11 regulation of bone mineralization GO:0030500 9.62 BGLAP CYP27B1 ENPP1 FGF23
12 phosphate-containing compound metabolic process GO:0006796 9.61 ENPP1 FGF23
13 positive regulation of keratinocyte differentiation GO:0045618 9.61 CYP27B1 VDR
14 phosphate ion homeostasis GO:0055062 9.61 FGF23 PTH SLC34A1
15 response to growth hormone GO:0060416 9.6 PHEX SLC34A1
16 response to magnesium ion GO:0032026 9.59 FGF23 SLC34A1
17 phosphate ion transport GO:0006817 9.58 SLC34A1 SLC34A3
18 vitamin metabolic process GO:0006766 9.57 CYP27B1 CYP2R1
19 sodium-dependent phosphate transport GO:0044341 9.56 SLC34A1 SLC34A3
20 response to parathyroid hormone GO:0071107 9.55 PTH SLC34A1
21 calcitriol biosynthetic process from calciol GO:0036378 9.54 CYP27B1 CYP2R1
22 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.54 CYP27B1 FGF23 VDR
23 response to sodium phosphate GO:1904383 9.52 FGF23 PHEX
24 vitamin D catabolic process GO:0042369 9.51 CYP27B1 FGF23
25 cellular phosphate ion homeostasis GO:0030643 9.46 ENPP1 FGF23 SLC34A1 SLC34A3
26 response to vitamin D GO:0033280 9.35 ALPL BGLAP CYP27B1 PHEX PTH
27 vitamin D metabolic process GO:0042359 9.02 CYP27B1 CYP2R1 FGF23 GC VDR

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

# Name GO ID Score Top Affiliating Genes
1 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
2 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.96 SLC34A1 SLC34A3
3 vitamin D binding GO:0005499 8.62 GC VDR
Sources

Sources for Rickets

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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