MCID: RCK004
MIFTS: 63

Rickets

Categories: Rare diseases, Metabolic diseases, Bone diseases

Aliases & Classifications for Rickets

MalaCards integrated aliases for Rickets:

Name: Rickets 12 72 49 28 51 40 41 14 69
Vitamin D-Dependent Rickets 12 24 36 69
Vitamin D Deficiency 51 40 69
Vitamin D Hydroxylation-Deficient Rickets 12
Vitamin D Deficiency Disease 49
Vitamin-D Deficiency Rickets 49
Nutritional Rickets 49
Hypovitaminosis D 49
Active Rickets 12
Vitamin D 40
Vddr 24

Classifications:



External Ids:

Disease Ontology 12 DOID:10609
ICD10 32 E55.0 E55
ICD9CM 34 268.0
MeSH 41 D012279
NCIt 46 C26878
KEGG 36 H01143

Summaries for Rickets

MedlinePlus : 40 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 sciatica, muscle cramp and back pain. 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 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 : 49 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. Last updated: 7/26/2013

Genetics Home Reference : 24 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 : 72 Rickets is a condition that results in weak or soft bones in children. Symptoms include bowed legs,... more...

Related Diseases for Rickets

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

(show top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 34.4 CYP27B1 VDR
2 hypophosphatemic rickets, autosomal dominant 34.1 FGF23 PHEX SLC34A3
3 hypocalcemic vitamin d-dependent rickets 33.9 CYP27B1 CYP2R1
4 hereditary hypophosphatemic rickets 33.9 SLC34A1 SLC34A3
5 autosomal recessive hypophosphatemic rickets 33.5 DMP1 ENPP1 FGF23 PHEX
6 hypophosphatemic rickets, x-linked recessive 32.2 CLCN5 CYP27B1 DMP1 ENPP1 FGF23 PHEX
7 hypophosphatemic rickets, x-linked dominant 32.1 CYP27B1 DMP1 FGF23 PHEX PTH SLC34A1
8 hypophosphatemic rickets with hypercalciuria, hereditary 31.8 CYP27B1 DMP1 ENPP1 FGF23 PHEX PTH
9 osteomalacia 31.4 ALPL BGLAP DMP1 FGF23 PHEX VDR
10 renal osteodystrophy 31.3 BGLAP FGF23 PTH VDR
11 hypophosphatasia 31.2 ALPL ENPP1 PHEX
12 ossification of the posterior longitudinal ligament of spine 31.2 BGLAP ENPP1
13 osteoporosis, juvenile 31.0 BGLAP GC
14 axial osteomalacia 30.8 BGLAP PTH
15 hypercalciuria, absorptive, 2 30.8 CLCN5 SLC34A3 VDR
16 opsismodysplasia 30.0 FGF23 PHEX
17 arterial calcification of infancy 30.0 ENPP1 FGF23 PHEX
18 hypophosphatasia, adult 29.9 ALPL BGLAP ENPP1 PTH
19 cohen-gibson syndrome 29.8 BGLAP FGF23
20 nephrolithiasis 29.8 CLCN5 SLC34A1 SLC34A3
21 fanconi syndrome 29.7 CLCN5 PTH SLC34A1
22 hypervitaminosis d 29.4 CYP27B1 FGF23 PTH
23 oncogenic osteomalacia 29.3 DMP1 FGF23 PHEX PTH
24 hypercalcemia, infantile, 1 29.3 PTH VDR
25 osteitis fibrosa 29.1 BGLAP PTH
26 hyperparathyroidism 28.9 BGLAP CYP27B1 FGF23 PHEX PTH VDR
27 primary hyperparathyroidism 28.8 BGLAP FGF23 PTH VDR
28 secondary hyperparathyroidism of renal origin 28.5 BGLAP CYP27B1 FGF23 PTH VDR
29 hypophosphatemia 27.6 BGLAP CLCN5 DMP1 ENPP1 FGF23 PHEX
30 osteoporosis 26.6 ALPL BGLAP CYP27B1 FGF23 GC PTH
31 vitamin d hydroxylation-deficient rickets, type 1a 12.4
32 vitamin d hydroxylation-deficient rickets, type 1b 12.3
33 hypophosphatemic rickets, autosomal recessive, 1 12.2
34 hypophosphatemic rickets, autosomal recessive, 2 12.2
35 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 12.2
36 hypophosphatemic rickets and hyperparathyroidism 12.0
37 epidermal nevus vitamin d resistant rickets 11.8
38 dent disease 1 11.6
39 craniosynostosis 11.3
40 renal tubular acidosis, distal 11.1
41 fanconi-bickel syndrome 11.1
42 fanconi renotubular syndrome 1 11.1
43 lowe oculocerebrorenal syndrome 11.1
44 tyrosinemia, type i 11.1
45 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
46 dentin dysplasia, type i 10.8
47 metaphyseal chondrodysplasia, schmid type 10.8
48 tumoral calcinosis, hyperphosphatemic, familial 10.8
49 metaphyseal dysplasia, spahr type 10.8
50 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 10.8

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

Symptoms & Phenotypes for Rickets

UMLS symptoms related to Rickets:


sciatica, muscle cramp, back pain

MGI Mouse Phenotypes related to Rickets:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 CYP2R1 DMP1 ENPP1 FAH FGF23 GC
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 craniofacial MP:0005382 9.98 DMP1 PHEX PTH VDR ALPL CLCN5
5 endocrine/exocrine gland MP:0005379 9.95 VDR ALPL CYP27B1 FAH FGF23 GC
6 immune system MP:0005387 9.91 ALPL CYP27B1 DMP1 ENPP1 FAH FGF23
7 limbs/digits/tail MP:0005371 9.7 PTH VDR ALPL CYP27B1 DMP1 FGF23
8 renal/urinary system MP:0005367 9.65 CLCN5 CYP27B1 DMP1 ENPP1 FAH FGF23
9 skeleton MP:0005390 9.44 ALPL CLCN5 CYP27B1 CYP2R1 DMP1 ENPP1

Drugs & Therapeutics for Rickets

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

(show top 50) (show all 113)
# 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,Early Phase 1 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1406-16-2
7
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 67-97-0 10883523 5280795 6221
8 tannic acid Approved, Nutraceutical Phase 4,Phase 2
9 Tocopherol Approved, Investigational, Nutraceutical Phase 4
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
11
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
12
Alfacalcidol Approved, Nutraceutical Phase 4,Early Phase 1 41294-56-8 5282181
13
Calcitriol Approved, Nutraceutical Phase 4,Phase 2 32222-06-3 5280453 134070
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,Early Phase 1
16 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Tocopherols Phase 4
21 Tocotrienols Phase 4
22 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
23 Hormones Phase 4,Phase 3,Phase 1,Phase 2
24 Retinol palmitate Phase 4
25 Calcifediol Phase 4,Phase 3,Early Phase 1 19356-17-3
26 Hydroxycholecalciferols Phase 4,Phase 3,Early Phase 1
27 insulin Phase 4,Phase 3,Phase 2
28 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2
29 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Early Phase 1
30 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
31 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
32 Antacids Phase 4,Phase 3,Phase 2,Phase 1
33 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Vitamin B Complex Phase 4
36 Anticonvulsants Phase 4
37 Diphosphonates Phase 4
38 Vasoconstrictor Agents Phase 4,Phase 2
39 Calciferol Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Vitamin D2 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
42 retinol Nutraceutical Phase 4
43 Olive Nutraceutical Phase 4,Phase 3,Phase 2
44 Folate Nutraceutical Phase 4
45 Vitamin B9 Nutraceutical Phase 4
46
Chromium Approved Phase 3 7440-47-3 27668
47
Sevelamer Approved Phase 3,Phase 2 52757-95-6, 152751-57-0 3085017
48
Calcium acetate Approved, Investigational Phase 3 62-54-4
49 Hormone Antagonists Phase 3,Phase 1,Phase 2
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 176)

# 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 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
3 Determination of Vitamin D Dose to Maintain Sufficiency Amongst Indian and Malay Women in the Tropics Unknown status NCT02389179 Phase 4 Vitamin D3
4 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
5 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
6 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
7 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
8 Effect of Three Different Doses of Oral Cholecalciferol on 25-Hydroxyvitamin D Changes Among Epilepsy Patients With Hypovitaminosis D Completed NCT02890823 Phase 4 Cholecalciferol
9 A Study on Oral Vitamin D Megadoses Completed NCT01067898 Phase 4
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 Study of Effect of Calcifediol Supplementation on Cardiopathic Subjects Undergoing Major Orthopedic Surgery Active, not recruiting NCT03403933 Phase 4 Didrogyl
21 Optimal Doses of Ergocalciferol Supplementation for Treatment of Hypovitaminosis D in Adults Enrolling by invitation NCT03228862 Phase 4 Ergocalciferol
22 Effects of Supplementation of Vitamin D in Patients With Crohn`s Disease Not yet recruiting NCT02704624 Phase 4
23 Kabul Vitamin D Supplementation Trial Unknown status NCT00548379 Phase 3 vitamin D;placebo
24 Vitamin D3 Substitution in Vitamin D Deficient Kidney Transplant Recipients Unknown status NCT00752401 Phase 3 Cholecalciferol;Placebo
25 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
26 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
27 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
28 Hypovitaminosis D : A Link Between Bone/Mineral and Fat/Fuel Metabolism Completed NCT01315366 Phase 3
29 Vitamin D Supplementation in Breastfeeding Women Completed NCT01240265 Phase 2, Phase 3
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 GAit, MEmory, Dietary and Vitamin D Completed NCT02086409 Phase 2, Phase 3
36 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
37 Vitamin D Status of Pregnant Women and Their Children in Eau Claire, South Carolina Completed NCT00412087 Phase 3 cholecalciferol (vitamin D3);cholecalciferol;cholecalciferol
38 Improving the Understanding of the Response to Vitamin D Supplementation Completed NCT01465178 Phase 3
39 Study Comparing Two Isoforms of Vitamin D Supplements for Infants Completed NCT01190137 Phase 3
40 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
41 Hypovitaminosis D in Neurocritical Patients Recruiting NCT02881957 Phase 2, Phase 3 Cholecalciferol
42 Effect of Vitamin D Replacement on Maternal and Neonatal Outcomes Recruiting NCT02434380 Phase 3
43 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
44 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
45 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
46 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
47 Targeting Inflammation Using Salsalate in CardioVascular Disease Active, not recruiting NCT00624923 Phase 2, Phase 3 Salsalate;Placebo
48 Importance of Dosing Regimen for the Effect of Vitamin D Supplementation Not yet recruiting NCT03272126 Phase 3 Vitamin D;Placebo
49 Hyperphosphatemia in Children With Chronic Kidney Disease Not yet recruiting NCT03202407 Phase 3 Calcium acetate and sevelamer hydrochloride
50 Effect of Vitamin D Supplement on Inflammation Markers in High-Risk Cardiovascular Patients With Chronic Kidney Disease Terminated NCT01012414 Phase 3 paricalcitol;placebo

Search NIH Clinical Center for Rickets

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: rickets

Genetic Tests for Rickets

Genetic tests related to Rickets:

# Genetic test Affiliating Genes
1 Rickets 28

Anatomical Context for Rickets

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

18
Bone

MalaCards organs/tissues related to Rickets:

38
Bone, Kidney, Skin, Liver, Heart, Testes, Lung

Publications for Rickets

Articles related to Rickets:

(show top 50) (show all 948)
# Title Authors Year
1
Rare, genetically conditioned forms of rickets - differential diagnosis and advances in diagnostics and treatment. ( 29417983 )
2018
2
Two novel variants of the PHEX gene in patients with Xa89linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. ( 29393334 )
2018
3
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
4
Breath-holding in Vitamin D deficiency rickets: A dilemma for the anesthetist. ( 29416264 )
2017
5
Nutritional rickets in Taiwanese children: Experiences at a single center. ( 28943082 )
2017
6
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
7
Hypocalcaemia leading to supra ventricular tachycardia in a three-month old Sri Lankan infant with vitamin D deficient rickets: a case report ( 29393614 )
2017
8
Erroneous diagnosis of rickets. ( 29062254 )
2017
9
Congenital Diarrhea from DGAT1 Mutation Leading to Electrolyte Derangements, Protein-Losing Enteropathy, and Rickets. ( 28937539 )
2017
10
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
11
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2017
12
Impact of Multidecadal Climate Variability on United Kingdom Rickets Rates. ( 29150647 )
2017
13
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
14
Vitamin D deficiency causes rickets in an urban informal settlement in Kenya and is associated with malnutrition. ( 28470840 )
2017
15
TowardsA Optimizing Calcium and Phosphate Concentration in Parenteral Nutrition for Premature Neonates to Minimize Rickets of Prematurity. ( 28054234 )
2017
16
Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). ( 28822957 )
2017
17
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
18
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. ( 29292875 )
2017
19
Nutritional Rickets and Osteomalacia in the Twenty-first Century: Revised Concepts, Public Health, and Prevention Strategies. ( 28612338 )
2017
20
QUALITY OF LIFE OF CHILDREN WITH RICKETS IN YOUNG AGE IN ARMENIA. ( 28452729 )
2017
21
Distinguishing child abuse fractures from rickets. ( 29177537 )
2017
22
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. ( 28608052 )
2017
23
Rickets in a 6-year-old girl resulting in extreme deformities. ( 28594291 )
2017
24
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia. ( 29127362 )
2017
25
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? ( 28548312 )
2017
26
The impact of rickets on growth and morbidity during recovery among children with complicated severe acute malnutrition in Kenya: A cohort study. ( 29178404 )
2017
27
Using data from a multi-hospital clinical network to explore prevalence of pediatric rickets in Kenya. ( 29062911 )
2017
28
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
29
Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings. ( 29201067 )
2017
30
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
31
Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. ( 27900779 )
2017
32
Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets. ( 28430915 )
2017
33
Genetic Causes of Rickets. ( 29280738 )
2017
34
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. ( 28587998 )
2017
35
Nutritional rickets in Norway: a nationwide register-based cohort study. ( 28554929 )
2017
36
Vitamin D-Deficient Rickets in Japan. ( 28607944 )
2017
37
Vitamin D resistant rickets: What an anesthesiologist should know. ( 29416255 )
2017
38
Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes. ( 28301319 )
2017
39
Alopecia in patients with vitamin D-resistant rickets type-II. ( 28538904 )
2017
40
Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice. ( 28938491 )
2017
41
Acute Hematogenous Osteomyelitis in a Five-Month-Old Male with Rickets. ( 29348957 )
2017
42
The orthopaedic management of lower limb deformity in hypophosphataemic rickets. ( 28904636 )
2017
43
Cupping at the ends of ribs is not always rickets. ( 28687698 )
2017
44
Rickets. ( 29265106 )
2017
45
Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets? ( 28077342 )
2017
46
Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. ( 28690912 )
2017
47
A pediatric hypophosphatemic rickets on MRI, (99m)Tc-MDP bone scan and (18)F-FDG PET/CT. ( 28315917 )
2017
48
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review. ( 29213174 )
2017
49
Effect of calcium and vitamin D on growth, rickets and Kashin-Beck disease in 0-5 year old children in a rural area of Central Tibet. ( 27102369 )
2016
50
Signaling through the G-protein-coupled receptor Rickets is important for polarity, detachment, and migration of the border cells in Drosophila. ( 27130192 )
2016

Variations for Rickets

ClinVar genetic disease variations for Rickets:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27B1 NM_000785.3(CYP27B1): c.320G> A (p.Arg107His) single nucleotide variant Pathogenic/Likely pathogenic rs28934604 GRCh37 Chromosome 12, 58159856: 58159856
2 CYP27B1 NM_000785.3(CYP27B1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic/Likely pathogenic rs118204009 GRCh37 Chromosome 12, 58157930: 58157930

Expression for Rickets

Search GEO for disease gene expression data for Rickets.

Pathways for Rickets

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

GO Terms for Rickets

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 27)
# 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 decidualization GO:0046697 9.63 CYP27B1 VDR
6 cellular response to vitamin D GO:0071305 9.63 BGLAP FGF23 PHEX
7 phosphate-containing compound metabolic process GO:0006796 9.62 ENPP1 FGF23
8 phosphate ion transmembrane transport GO:0035435 9.62 SLC34A1 SLC34A3
9 regulation of bone mineralization GO:0030500 9.62 BGLAP CYP27B1 ENPP1 FGF23
10 response to lead ion GO:0010288 9.61 PTH SLC34A1
11 positive regulation of keratinocyte differentiation GO:0045618 9.61 CYP27B1 VDR
12 response to magnesium ion GO:0032026 9.6 FGF23 SLC34A1
13 response to growth hormone GO:0060416 9.59 PHEX SLC34A1
14 phosphate ion transport GO:0006817 9.58 SLC34A1 SLC34A3
15 cellular response to parathyroid hormone stimulus GO:0071374 9.58 FGF23 PHEX SLC34A1
16 vitamin metabolic process GO:0006766 9.57 CYP27B1 CYP2R1
17 sodium-dependent phosphate transport GO:0044341 9.56 SLC34A1 SLC34A3
18 vitamin D metabolic process GO:0042359 9.56 CYP27B1 CYP2R1 FGF23 GC
19 response to parathyroid hormone GO:0071107 9.55 PTH SLC34A1
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 vitamin D catabolic process GO:0042369 9.52 CYP27B1 FGF23
23 response to sodium phosphate GO:1904383 9.51 FGF23 PHEX
24 calcitriol biosynthetic process from calciol GO:0036378 9.49 CYP27B1 CYP2R1
25 cellular phosphate ion homeostasis GO:0030643 9.46 ENPP1 FGF23 SLC34A1 SLC34A3
26 biomineral tissue development GO:0031214 9.35 ALPL BGLAP DMP1 ENPP1 PHEX
27 response to vitamin D GO:0033280 9.02 ALPL BGLAP CYP27B1 PHEX PTH

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 8.96 SLC34A1 SLC34A3
2 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3

Sources for Rickets

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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