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MCID: RCK004
MIFTS: 62

Rickets

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

Aliases & Classifications for Rickets

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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
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
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, muscle cramp and sciatica. 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 Benzocaine and Calcium Carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and kidney, and related phenotypes are homeostasis/metabolism and growth/size/body region

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.

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.

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.

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

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

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 34.8 CYP27B1 VDR
2 hypophosphatemic rickets, autosomal dominant 34.3 FGF23 PHEX SLC34A3
3 hypocalcemic vitamin d-dependent rickets 34.2 CYP27B1 CYP2R1
4 hereditary hypophosphatemic rickets 34.1 SLC34A1 SLC34A3
5 autosomal recessive hypophosphatemic rickets 33.7 DMP1 ENPP1 FGF23 PHEX
6 hypophosphatasia 31.3 ALPL ENPP1 PHEX
7 hypophosphatemic rickets, x-linked recessive 31.3 CLCN5 CYP27B1 DMP1 ENPP1 FGF23 PHEX
8 ossification of the posterior longitudinal ligament of spine 31.1 BGLAP ENPP1
9 hypophosphatemic rickets, x-linked dominant 30.9 CYP27B1 DMP1 FGF23 PHEX PTH SLC34A1
10 osteoporosis, juvenile 30.9 BGLAP GC
11 renal osteodystrophy 30.9 BGLAP FGF23 PTH VDR
12 osteomalacia 30.8 ALPL BGLAP DMP1 FGF23 PHEX VDR
13 hypophosphatemic rickets with hypercalciuria, hereditary 30.7 CYP27B1 DMP1 ENPP1 FGF23 PHEX PTH
14 axial osteomalacia 30.6 BGLAP PTH
15 opsismodysplasia 30.4 FGF23 PHEX
16 arterial calcification of infancy 30.3 ENPP1 FGF23 PHEX
17 nephrolithiasis 29.7 CLCN5 SLC34A1 SLC34A3
18 hypophosphatasia, adult 29.3 ALPL BGLAP ENPP1 PTH
19 oncogenic osteomalacia 29.1 DMP1 FGF23 PHEX PTH
20 hypervitaminosis d 28.9 CYP27B1 FGF23 PTH VDR
21 osteitis fibrosa 28.8 BGLAP PTH
22 parathyroid adenoma 28.4 BGLAP PTH VDR
23 primary hyperparathyroidism 28.4 BGLAP FGF23 PTH VDR
24 hyperparathyroidism 28.1 BGLAP CYP27B1 FGF23 PHEX PTH VDR
25 secondary hyperparathyroidism of renal origin 27.8 BGLAP CYP27B1 FGF23 PTH VDR
26 bone disease 27.1 ALPL BGLAP FGF23 PTH SLC34A3 VDR
27 hypophosphatemia 26.1 BGLAP CLCN5 DMP1 ENPP1 FGF23 PHEX
28 osteoporosis 25.0 ALPL BGLAP CYP27B1 FGF23 GC PTH
29 vitamin d hydroxylation-deficient rickets, type 1a 12.4
30 vitamin d hydroxylation-deficient rickets, type 1b 12.3
31 hypophosphatemic rickets, autosomal recessive, 2 12.2
32 hypophosphatemic rickets, autosomal recessive, 1 12.2
33 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 12.2
34 hypophosphatemic rickets and hyperparathyroidism 12.0
35 epidermal nevus vitamin d resistant rickets 11.8
36 dent disease 1 11.6
37 craniosynostosis 11.2
38 renal tubular acidosis, distal 11.1
39 fanconi-bickel syndrome 11.1
40 fanconi renotubular syndrome 1 11.1
41 lowe oculocerebrorenal syndrome 11.1
42 tyrosinemia, type i 11.0
43 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
44 dentin dysplasia, type i 10.7
45 metaphyseal chondrodysplasia, schmid type 10.7
46 tumoral calcinosis, hyperphosphatemic, familial, 1 10.7
47 metaphyseal dysplasia, spahr type 10.7
48 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 10.7
49 nephrolithiasis, x-linked recessive, with renal failure 10.7
50 bile acid synthesis defect, congenital, 1 10.7

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, muscle cramp, sciatica

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 FGF23 PHEX PTH SLC34A1 SLC34A3 VDR
3 cellular MP:0005384 10.11 ALPL CLCN5 CYP27B1 DMP1 ENPP1 FAH
4 craniofacial MP:0005382 9.98 ALPL CLCN5 CYP27B1 DMP1 PHEX PTH
5 endocrine/exocrine gland MP:0005379 9.95 ALPL CYP27B1 FAH FGF23 GC PTH
6 immune system MP:0005387 9.91 VDR ALPL CYP27B1 DMP1 ENPP1 FAH
7 limbs/digits/tail MP:0005371 9.7 ALPL CYP27B1 DMP1 FGF23 PHEX PTH
8 renal/urinary system MP:0005367 9.65 DMP1 ENPP1 FAH FGF23 PHEX SLC34A1
9 skeleton MP:0005390 9.44 ALPL CLCN5 CYP27B1 CYP2R1 DMP1 ENPP1
Sources

Drugs & Therapeutics for Rickets

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

(show top 50) (show all 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 2 1994-09-7, 94-09-7 2337
2
Calcium Carbonate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 471-34-1
3
Zoledronic acid Approved Phase 4 118072-93-8 68740
4
Pamidronate Approved Phase 4 40391-99-9 4674
5
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1406-16-2
7 tannic acid Approved, Nutraceutical Phase 4,Phase 2
8
Tocopherol Approved, Investigational, Nutraceutical Phase 4 1406-66-2 14986
9
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 67-97-0 6221 5280795
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
11
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
12
Alfacalcidol Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 41294-56-8 5282181
13
Calcitriol Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 32222-06-3 134070 5280453
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
15 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Ergocalciferols 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 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Tocopherols Phase 4
21 Tocotrienols Phase 4
22 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Retinol palmitate Phase 4
25 Calcifediol Phase 4,Phase 3,Not Applicable,Early Phase 1 19356-17-3
26 Hydroxycholecalciferols Phase 4,Phase 3,Not Applicable,Early Phase 1
27 insulin Phase 4,Phase 3,Phase 2,Not Applicable
28 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Not Applicable
29 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Early Phase 1
30 Diphosphonates Phase 4
31 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
32 Immunoglobulin G Phase 4,Phase 2,Phase 3,Phase 1
33 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
34 Antacids Phase 4,Phase 3,Phase 2,Phase 1
35 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Vitamin B Complex Phase 4
38 Anticonvulsants Phase 4
39 Vasoconstrictor Agents Phase 4,Phase 2,Not Applicable
40 Calciferol Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
41 Vitamin D2 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
42 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
43 retinol Nutraceutical Phase 4
44 Olive Nutraceutical Phase 4,Phase 3,Phase 2
45 Folate Nutraceutical Phase 4
46 Vitamin B9 Nutraceutical Phase 4
47
Chromium Approved Phase 3 7440-47-3 27668
48
Sevelamer Approved Phase 3,Phase 2 52757-95-6
49
Treprostinil Approved, Investigational Phase 2, Phase 3 81846-19-7 54786 6918140
50
Calcium acetate Approved, Investigational Phase 3 62-54-4

Interventional clinical trials:

(show top 50) (show all 188)
# 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 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
10 Study Comparing Two Vitamin D Supplements for Infants: Liquid Versus D-Strips Completed NCT00846677 Phase 4
11 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Status in Healthy Adults Completed NCT01924910 Phase 4
12 Vitamin D Supplementation for the Prevention of Cardiovascular Risk Completed NCT02020694 Phase 4 Vitamin D;Placebo (for vitamin D)
13 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
14 Vitamin Deficiency in Immigrants, a Treatment Study Completed NCT01419119 Phase 4 Cholecalciferol;Cholecalciferol;Cholecalciferol;Cholecalciferol
15 Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation Completed NCT01675089 Phase 4 Zoledronic acid
16 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
17 Osteopenia and Renal Osteodystrophy: Evaluation and Management Completed NCT00108394 Phase 4 pamidronate
18 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
19 Study of Effect of Calcifediol Supplementation on Cardiopathic Subjects Undergoing Major Orthopedic Surgery Active, not recruiting NCT03403933 Phase 4 Didrogyl
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 Appli 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 Improving the Understanding of the Response to Vitamin D Supplementation Completed NCT01465178 Phase 3
40 Study Comparing Two Isoforms of Vitamin D Supplements for Infants Completed NCT01190137 Phase 3
41 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
42 Effect of Vitamin D Replacement on Maternal and Neonatal Outcomes Recruiting NCT02434380 Phase 3
43 Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFE Recruiting NCT02630316 Phase 2, Phase 3 Inhaled Treprostinil;Placebo
44 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
45 Hypovitaminosis D in Neurocritical Patients Active, not recruiting NCT02881957 Phase 2, Phase 3 Cholecalciferol
46 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
47 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
48 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
49 Targeting Inflammation Using Salsalate in CardioVascular Disease Active, not recruiting NCT00624923 Phase 2, Phase 3 Salsalate;Placebo
50 Hyperphosphatemia in Children With Chronic Kidney Disease Not yet recruiting NCT03202407 Phase 3 Calcium acetate and sevelamer hydrochloride

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

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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:

41
Bone, Kidney, Skin, Liver, Heart, Testes, Lung
Sources

Publications for Rickets

About this section

Articles related to Rickets:

(show top 50) (show all 1002)
# Title Authors Year
1
Cortical Matrix Mineral Density Measured Noninvasively in Pre- and Postmenopausal Women and a Woman With Vitamin D-Dependent Rickets. ( 29489033 )
2018
2
Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. ( 29610183 )
2018
3
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
4
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. ( 29692463 )
2018
5
HYPOPHOSPHATEMIC RICKETS: CASE REPORT. ( 29617471 )
2018
6
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. ( 29858904 )
2018
7
CYP3A4 mutation causes vitamin D-dependent rickets type 3. ( 29461981 )
2018
8
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
9
The relationship between maternal and child bone density in Nigerian children with and without nutritional rickets. ( 29487981 )
2018
10
Rickets presenting as gross motor delay in twin girls. ( 29735534 )
2018
11
Vitamin D: part I; from plankton and calcified skeletons (500 million years ago) to rickets. ( 29504055 )
2018
12
Rare, genetically conditioned forms of rickets - differential diagnosis and advances in diagnostics and treatment. ( 29417983 )
2018
13
Targeted resequencing of phosphorus metabolisma89related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
14
Rickets re-emerging: a cautionary tale. ( 29869369 )
2018
15
Genetics of Refractory Rickets: Identification of Novel <i>PHEX</i> Mutations in Indian Patients and a Literature Update. ( 29707405 )
2018
16
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases. ( 29809158 )
2018
17
Supplementation in hypophosphataemic rickets: the bare bones of management. ( 29970592 )
2018
18
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
19
The roles of vitamin D and dietary calcium in nutritional rickets. ( 29955625 )
2018
20
Prevention of rickets and osteomalacia in the UK: political action overdue. ( 29661756 )
2018
21
Two novel variants of the PHEX gene in patients with Xa89linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. ( 29393334 )
2018
22
QUALITY OF LIFE OF CHILDREN WITH RICKETS IN YOUNG AGE IN ARMENIA. ( 28452729 )
2017
23
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
24
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
25
Erroneous diagnosis of rickets. ( 29062254 )
2017
26
Vitamin D resistant rickets: What an anesthesiologist should know. ( 29416255 )
2017
27
TowardsA Optimizing Calcium and Phosphate Concentration in Parenteral Nutrition for Premature Neonates to Minimize Rickets of Prematurity. ( 28054234 )
2017
28
Nutritional rickets in Norway: a nationwide register-based cohort study. ( 28554929 )
2017
29
A pediatric hypophosphatemic rickets on MRI, (99m)Tc-MDP bone scan and (18)F-FDG PET/CT. ( 28315917 )
2017
30
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? ( 28548312 )
2017
31
Transgenic Expression of the Vitamin D Receptor Restricted to the Ileum, Cecum and Colon of Vitamin D Receptor Knockout Mice Rescues Vitamin D Receptor Dependent Rickets. ( 28938396 )
2017
32
The impact of rickets on growth and morbidity during recovery among children with complicated severe acute malnutrition in Kenya: A cohort study. ( 29178404 )
2017
33
Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets? ( 28077342 )
2017
34
Using data from a multi-hospital clinical network to explore prevalence of pediatric rickets in Kenya. ( 29062911 )
2017
35
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review. ( 29213174 )
2017
36
Acute Hematogenous Osteomyelitis in a Five-Month-Old Male with Rickets. ( 29348957 )
2017
37
The orthopaedic management of lower limb deformity in hypophosphataemic rickets. ( 28904636 )
2017
38
Nutritional rickets in Taiwanese children: Experiences at a single center. ( 28943082 )
2017
39
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. ( 28608052 )
2017
40
Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice. ( 28938491 )
2017
41
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
42
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets. ( 28194480 )
2017
43
Vitamin D deficiency causes rickets in an urban informal settlement in Kenya and is associated with malnutrition. ( 28470840 )
2017
44
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. ( 28383812 )
2017
45
Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. ( 27900779 )
2017
46
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. ( 28587998 )
2017
47
Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes. ( 28301319 )
2017
48
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female. ( 29259966 )
2017
49
Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. ( 28690912 )
2017
50
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. ( 29292875 )
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.320G> A (p.Arg107His) single nucleotide variant Likely pathogenic rs28934604 GRCh37 Chromosome 12, 58159856: 58159856
2 CYP27B1 NM_000785.3(CYP27B1): c.320G> A (p.Arg107His) single nucleotide variant Likely pathogenic rs28934604 GRCh38 Chromosome 12, 57766073: 57766073
3 CYP27B1 NM_000785.3(CYP27B1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic/Likely pathogenic rs118204009 GRCh37 Chromosome 12, 58157930: 58157930
4 CYP27B1 NM_000785.3(CYP27B1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic/Likely pathogenic rs118204009 GRCh38 Chromosome 12, 57764147: 57764147
5 VDR NM_001017535.1(VDR): c.*2974A> T single nucleotide variant Uncertain significance rs11574139 GRCh38 Chromosome 12, 47841772: 47841772
6 VDR NM_001017535.1(VDR): c.*2974A> T single nucleotide variant Uncertain significance rs11574139 GRCh37 Chromosome 12, 48235555: 48235555
7 VDR NM_001017535.1(VDR): c.*2827A> G single nucleotide variant Likely benign rs11574138 GRCh37 Chromosome 12, 48235702: 48235702
8 VDR NM_001017535.1(VDR): c.*2973G> A single nucleotide variant Uncertain significance rs760268626 GRCh38 Chromosome 12, 47841773: 47841773
9 VDR NM_001017535.1(VDR): c.*2973G> A single nucleotide variant Uncertain significance rs760268626 GRCh37 Chromosome 12, 48235556: 48235556
10 VDR NM_001017535.1(VDR): c.*2900A> C single nucleotide variant Uncertain significance rs527373238 GRCh38 Chromosome 12, 47841846: 47841846
11 VDR NM_001017535.1(VDR): c.*2900A> C single nucleotide variant Uncertain significance rs527373238 GRCh37 Chromosome 12, 48235629: 48235629
12 VDR NM_001017535.1(VDR): c.*2827A> G single nucleotide variant Likely benign rs11574138 GRCh38 Chromosome 12, 47841919: 47841919
13 VDR NM_001017535.1(VDR): c.*2658dupG duplication Uncertain significance rs886049413 GRCh38 Chromosome 12, 47842088: 47842088
14 VDR NM_001017535.1(VDR): c.*2658dupG duplication Uncertain significance rs886049413 GRCh37 Chromosome 12, 48235871: 48235871
15 VDR NM_001017535.1(VDR): c.*2413G> C single nucleotide variant Uncertain significance rs886049414 GRCh38 Chromosome 12, 47842333: 47842333
16 VDR NM_001017535.1(VDR): c.*2413G> C single nucleotide variant Uncertain significance rs886049414 GRCh37 Chromosome 12, 48236116: 48236116
17 VDR NM_001017535.1(VDR): c.*2328C> G single nucleotide variant Uncertain significance rs770829205 GRCh38 Chromosome 12, 47842418: 47842418
18 VDR NM_001017535.1(VDR): c.*2328C> G single nucleotide variant Uncertain significance rs770829205 GRCh37 Chromosome 12, 48236201: 48236201
19 VDR NM_001017535.1(VDR): c.*2263G> A single nucleotide variant Uncertain significance rs886049417 GRCh38 Chromosome 12, 47842483: 47842483
20 VDR NM_001017535.1(VDR): c.*2263G> A single nucleotide variant Uncertain significance rs886049417 GRCh37 Chromosome 12, 48236266: 48236266
21 VDR NM_001017535.1(VDR): c.*2227G> A single nucleotide variant Uncertain significance rs138753910 GRCh38 Chromosome 12, 47842519: 47842519
22 VDR NM_001017535.1(VDR): c.*2227G> A single nucleotide variant Uncertain significance rs138753910 GRCh37 Chromosome 12, 48236302: 48236302
23 VDR NM_001017535.1(VDR): c.*2226C> T single nucleotide variant Uncertain significance rs11574136 GRCh38 Chromosome 12, 47842520: 47842520
24 VDR NM_001017535.1(VDR): c.*2226C> T single nucleotide variant Uncertain significance rs11574136 GRCh37 Chromosome 12, 48236303: 48236303
25 VDR NM_001017535.1(VDR): c.*2143A> T single nucleotide variant Likely benign rs2853562 GRCh37 Chromosome 12, 48236386: 48236386
26 VDR NM_001017535.1(VDR): c.*2143A> T single nucleotide variant Likely benign rs2853562 GRCh38 Chromosome 12, 47842603: 47842603
27 VDR NM_001017535.1(VDR): c.*2122dupA duplication Uncertain significance rs886049421 GRCh37 Chromosome 12, 48236407: 48236407
28 VDR NM_001017535.1(VDR): c.*2122dupA duplication Uncertain significance rs886049421 GRCh38 Chromosome 12, 47842624: 47842624
29 VDR NM_001017535.1(VDR): c.*2100_*2105delTACAAA deletion Uncertain significance rs886049422 GRCh37 Chromosome 12, 48236424: 48236429
30 VDR NM_001017535.1(VDR): c.*2100_*2105delTACAAA deletion Uncertain significance rs886049422 GRCh38 Chromosome 12, 47842641: 47842646
31 VDR NM_001017535.1(VDR): c.*1982C> T single nucleotide variant Uncertain significance rs886049425 GRCh37 Chromosome 12, 48236547: 48236547
32 VDR NM_001017535.1(VDR): c.*1982C> T single nucleotide variant Uncertain significance rs886049425 GRCh38 Chromosome 12, 47842764: 47842764
33 VDR NM_001017535.1(VDR): c.*1666A> C single nucleotide variant Uncertain significance rs11574134 GRCh37 Chromosome 12, 48236863: 48236863
34 VDR NM_001017535.1(VDR): c.*1666A> C single nucleotide variant Uncertain significance rs11574134 GRCh38 Chromosome 12, 47843080: 47843080
35 VDR NM_001017535.1(VDR): c.*1420T> C single nucleotide variant Uncertain significance rs56382517 GRCh37 Chromosome 12, 48237109: 48237109
36 VDR NM_001017535.1(VDR): c.*1420T> C single nucleotide variant Uncertain significance rs56382517 GRCh38 Chromosome 12, 47843326: 47843326
37 VDR NM_001017535.1(VDR): c.*1253T> A single nucleotide variant Uncertain significance rs886049427 GRCh37 Chromosome 12, 48237276: 48237276
38 VDR NM_001017535.1(VDR): c.*1253T> A single nucleotide variant Uncertain significance rs886049427 GRCh38 Chromosome 12, 47843493: 47843493
39 VDR NM_001017535.1(VDR): c.*1226T> C single nucleotide variant Likely benign rs11574129 GRCh38 Chromosome 12, 47843520: 47843520
40 VDR NM_001017535.1(VDR): c.*1226T> C single nucleotide variant Likely benign rs11574129 GRCh37 Chromosome 12, 48237303: 48237303
41 VDR NM_001017535.1(VDR): c.*1179delA deletion Uncertain significance rs530894692 GRCh38 Chromosome 12, 47843567: 47843567
42 VDR NM_001017535.1(VDR): c.*1179delA deletion Uncertain significance rs530894692 GRCh37 Chromosome 12, 48237350: 48237350
43 VDR NM_001017535.1(VDR): c.*877C> G single nucleotide variant Uncertain significance rs556844112 GRCh38 Chromosome 12, 47843869: 47843869
44 VDR NM_001017535.1(VDR): c.*877C> G single nucleotide variant Uncertain significance rs556844112 GRCh37 Chromosome 12, 48237652: 48237652
45 VDR NM_001017535.1(VDR): c.*534T> C single nucleotide variant Uncertain significance rs886049431 GRCh37 Chromosome 12, 48237995: 48237995
46 VDR NM_001017535.1(VDR): c.*534T> C single nucleotide variant Uncertain significance rs886049431 GRCh38 Chromosome 12, 47844212: 47844212
47 VDR NM_001017535.1(VDR): c.*184T> G single nucleotide variant Uncertain significance rs11574116 GRCh38 Chromosome 12, 47844562: 47844562
48 VDR NM_001017535.1(VDR): c.*184T> G single nucleotide variant Uncertain significance rs11574116 GRCh37 Chromosome 12, 48238345: 48238345
49 VDR NM_001017535.1(VDR): c.*111C> A single nucleotide variant Uncertain significance rs886049435 GRCh37 Chromosome 12, 48238418: 48238418
50 VDR NM_001017535.1(VDR): c.*111C> A single nucleotide variant Uncertain significance rs886049435 GRCh38 Chromosome 12, 47844635: 47844635
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

About this section

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

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.8 BGLAP SLC34A1 SLC34A3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.83 ALPL BGLAP PHEX PTH VDR
2 ossification GO:0001503 9.76 BGLAP DMP1 SLC34A1
3 bone mineralization GO:0030282 9.65 BGLAP CYP27B1 PHEX
4 response to cadmium ion GO:0046686 9.63 PTH SLC34A1
5 cellular response to vitamin D GO:0071305 9.63 BGLAP FGF23 PHEX
6 phosphate-containing compound metabolic process GO:0006796 9.62 ENPP1 FGF23
7 decidualization GO:0046697 9.62 CYP27B1 VDR
8 regulation of bone mineralization GO:0030500 9.62 BGLAP CYP27B1 ENPP1 FGF23
9 response to lead ion GO:0010288 9.61 PTH SLC34A1
10 positive regulation of keratinocyte differentiation GO:0045618 9.61 CYP27B1 VDR
11 response to growth hormone GO:0060416 9.6 PHEX SLC34A1
12 response to magnesium ion GO:0032026 9.59 FGF23 SLC34A1
13 phosphate ion transport GO:0006817 9.58 SLC34A1 SLC34A3
14 cellular response to parathyroid hormone stimulus GO:0071374 9.58 FGF23 PHEX SLC34A1
15 vitamin metabolic process GO:0006766 9.57 CYP27B1 CYP2R1
16 sodium-dependent phosphate transport GO:0044341 9.56 SLC34A1 SLC34A3
17 cellular phosphate ion homeostasis GO:0030643 9.56 ENPP1 FGF23 SLC34A1 SLC34A3
18 response to parathyroid hormone GO:0071107 9.55 PTH SLC34A1
19 biomineral tissue development GO:0031214 9.55 ALPL BGLAP DMP1 ENPP1 PHEX
20 phosphate ion homeostasis GO:0055062 9.54 FGF23 SLC34A1
21 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.54 CYP27B1 FGF23 VDR
22 calcitriol biosynthetic process from calciol GO:0036378 9.52 CYP27B1 CYP2R1
23 vitamin D catabolic process GO:0042369 9.51 CYP27B1 FGF23
24 response to sodium phosphate GO:1904383 9.49 FGF23 PHEX
25 response to vitamin D GO:0033280 9.35 ALPL BGLAP CYP27B1 PHEX PTH
26 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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