MCID: RCK004
MIFTS: 57

Rickets

Categories: Rare diseases, Metabolic diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Rickets

MalaCards integrated aliases for Rickets:

Name: Rickets 12 50 29 52 41 42 14 69
Vitamin D-Dependent Rickets 12 25 69
Vitamin D Deficiency 52 41 69
Vitamin D Hydroxylation-Deficient Rickets 12
Vitamin D Deficiency Disease 50
Vitamin-D Deficiency Rickets 50
Nutritional Rickets 50
Hypovitaminosis D 50
Active Rickets 12
Vitamin D 41
Vddr 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10609
ICD10 33 E55.0 E55
ICD9CM 35 268.0
MeSH 42 D012279
NCIt 47 C26878

Summaries for Rickets

MedlinePlus : 41 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 are obese, 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), ant 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 hypophosphatasia, adult and xanthomatosis, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Rickets is PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Endochondral Ossification. The drugs Calcium Carbonate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, and related phenotypes are homeostasis/metabolism and growth/size/body region

NIH Rare Diseases : 50 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 : 25 Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1α-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR).

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 defective mineralization or calcification of bones before epiphyseal closure in immature... more...

Related Diseases for Rickets

Diseases in the Rickets family:

Rickets Due to Defect in Vitamin D 25-Hydroxylation

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

(show top 50) (show all 197)
id Related Disease Score Top Affiliating Genes
1 hypophosphatasia, adult 29.5 ALPL BGLAP ENPP1 PTH
2 xanthomatosis 28.6 BGLAP PTH
3 protein-losing enteropathy 22.2 ALPL BGLAP CLCN5 CYP27B1 CYP2R1 DMP1
4 hypophosphatemic rickets 12.3
5 hypophosphatemic rickets with hypercalciuria 12.3
6 hypophosphatemic rickets, x-linked dominant 12.3
7 rickets, vitamin d-resistant, type iia 12.2
8 vitamin d-dependent rickets, type i 12.2
9 hypophosphatemic rickets, autosomal dominant 12.2
10 autosomal recessive hypophosphatemic rickets 12.1
11 rickets due to defect in vitamin d 25-hydroxylation 12.1
12 hereditary hypophosphatemic rickets 12.1
13 hypophosphatemic rickets, autosomal recessive, 2 12.1
14 hypophosphatemic rickets, ar 12.1
15 vitamin d-dependent rickets type ii 12.0
16 hypocalcemic vitamin d-dependent rickets 11.9
17 hypophosphatemic rickets and hyperparathyroidism 11.9
18 epidermal nevus vitamin d resistant rickets 11.7
19 dent disease 11.5
20 renal osteodystrophy 11.2
21 craniosynostosis 11.1
22 osteomalacia 11.1
23 fanconi-bickel syndrome 11.0
24 lowe syndrome 11.0
25 tyrosinemia, type i 10.9
26 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.8
27 restless legs syndrome 1 10.7 CYP27B1 VDR
28 jacobsen syndrome 10.6 FGF23 PHEX
29 fanconi renotubular syndrome 2 10.6
30 fanconi renotubular syndrome 1 10.6
31 idiopathic juvenile osteoporosis 10.6
32 metaphyseal chondrodysplasia, schmid type 10.6
33 bile acid synthesis defect, congenital, 1 10.6
34 ossification of the posterior longitudinal ligament of spine 10.6
35 renal tubular acidosis, distal 10.6
36 dentin dysplasia, type i, with microdontia and misshapen teeth 10.6
37 slc4a1-associated distal renal tubular acidosis 10.6
38 tumoral calcinosis, hyperphosphatemic, familial 10.6
39 hypophosphatasia 10.6
40 metaphyseal dysplasia, spahr type 10.6
41 nephrolithiasis, type i 10.6
42 fanconi renotubular syndrome 3 10.6
43 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 10.6
44 hemoglobinopathy toms river 10.6 CYP27B1 CYP2R1
45 histiocytoid hemangioma 10.6 FGF23 VDR
46 colorectal cancer, hereditary nonpolyposis, type 4 10.6 DMP1 FGF23
47 isolated duane retraction syndrome 10.5 SLC34A1 SLC34A3
48 fatal infantile encephalomyopathy 10.5 FGF23 PHEX
49 peroxisome biogenesis disorder 2a 10.5 FGF23 PHEX SLC34A3
50 acute maxillary sinusitis 10.5 DMP1 FGF23 PHEX

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:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Rickets:

44
id 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 SLC34A3 VDR ALPL CLCN5 CYP27B1 DMP1
3 craniofacial MP:0005382 9.98 ALPL CLCN5 CYP27B1 DMP1 PHEX PTH
4 endocrine/exocrine gland MP:0005379 9.95 FGF23 GC PTH VDR ALPL CYP27B1
5 immune system MP:0005387 9.91 ALPL CYP27B1 DMP1 ENPP1 FAH FGF23
6 limbs/digits/tail MP:0005371 9.7 ALPL CYP27B1 DMP1 FGF23 PHEX PTH
7 renal/urinary system MP:0005367 9.65 PHEX SLC34A1 SLC34A3 VDR CLCN5 CYP27B1
8 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 112)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Carbonate Approved Phase 4,Phase 3,Phase 2,Phase 1 471-34-1
2
Zoledronic acid Approved Phase 4 118072-93-8 68740
3
Pamidronate Approved Phase 4 40391-99-9 4674
4
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
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 6221 10883523 5280795
8
Alfacalcidol Approved, Nutraceutical Phase 4,Early Phase 1 41294-56-8 5282181
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
10
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
11 tannic acid Approved, Nutraceutical Phase 4
12 Tocopherol Approved, Nutraceutical Phase 4
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
14 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
20 Calcifediol Phase 4,Phase 3,Early Phase 1 19356-17-3
21 Hydroxycholecalciferols Phase 4,Phase 3,Early Phase 1
22 insulin Phase 4,Phase 3,Phase 2
23 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2
24 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Early Phase 1
25 Hormones Phase 4,Phase 3,Phase 1,Phase 2
26 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
27 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
28 Antacids Phase 4,Phase 3,Phase 2,Phase 1
29 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Vitamin B Complex Phase 4
32 Anticonvulsants Phase 4
33 Diphosphonates Phase 4
34 Retinol palmitate Phase 4
35 Tocopherols Phase 4
36 Tocotrienols Phase 4
37 Calciferol Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Vitamin D2 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
39 Olive Nutraceutical Phase 4,Phase 3,Phase 2
40 Folate Nutraceutical Phase 4
41 Vitamin B9 Nutraceutical Phase 4
42 retinol Nutraceutical Phase 4
43 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
44
Chromium Approved Phase 3 7440-47-3 27668
45 Analgesics Phase 2, Phase 3
46 Analgesics, Non-Narcotic Phase 2, Phase 3
47 Anti-Inflammatory Agents Phase 2, Phase 3
48 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
49 Antirheumatic Agents Phase 2, Phase 3
50 Cyclooxygenase Inhibitors Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 166)

id 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 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
4 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
5 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
6 Effect of Three Different Doses of Oral Cholecalciferol on 25-Hydroxyvitamin D Changes Among Epilepsy Patients With Hypovitaminosis D Completed NCT02890823 Phase 4 Cholecalciferol
7 A Study on Oral Vitamin D Megadoses Completed NCT01067898 Phase 4
8 Study Comparing Two Vitamin D Supplements for Infants: Liquid Versus D-Strips Completed NCT00846677 Phase 4
9 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Status in Healthy Adults Completed NCT01924910 Phase 4
10 Vitamin D Supplementation for the Prevention of Cardiovascular Risk Completed NCT02020694 Phase 4 Vitamin D;Placebo (for vitamin D)
11 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
12 Vitamin Deficiency in Immigrants, a Treatment Study Completed NCT01419119 Phase 4 Cholecalciferol;Cholecalciferol;Cholecalciferol;Cholecalciferol
13 Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation Completed NCT01675089 Phase 4 Zoledronic acid
14 Osteopenia and Renal Osteodystrophy: Evaluation and Management Completed NCT00108394 Phase 4 pamidronate
15 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
16 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Recruiting NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
17 Determination of Vitamin D Dose to Maintain Sufficiency Amongst Indian and Malay Women in the Tropics Recruiting NCT02389179 Phase 4 Vitamin D3
18 Cholecalciferol Supplementation in Restless Leg Syndrome in Patients With Chronic Kidney Disease Recruiting NCT03063190 Phase 4 Vitamin D;Placebo Oral Tablet
19 Optimal Doses of Ergocalciferol Supplementation for Treatment of Hypovitaminosis D in Adults Enrolling by invitation NCT03228862 Phase 4 Ergocalciferol
20 Effects of Supplementation of Vitamin D in Patients With Crohn`s Disease Not yet recruiting NCT02704624 Phase 4
21 Kabul Vitamin D Supplementation Trial Unknown status NCT00548379 Phase 3 vitamin D;placebo
22 Targeting Inflammation Using Salsalate in CardioVascular Disease Unknown status NCT00624923 Phase 2, Phase 3 Salsalate;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 Hypovitaminosis D : A Link Between Bone/Mineral and Fat/Fuel Metabolism Completed NCT01315366 Phase 3
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 Vitamin D Supplementation in Breastfeeding Women Completed NCT01240265 Phase 2, Phase 3
29 High Dose Preoperative Cholecalciferol Supplementation and Perioperative Vitamin D Status Completed NCT01689779 Phase 3 100,000 IU cholecalciferol;Placebo
30 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)
31 Cholecalciferol Supplementation for Sepsis in the ICU Completed NCT01896544 Phase 3
32 Vitamin D, Blood Pressure, Lipids, Infection and Depression Completed NCT00960232 Phase 3 Cholecalciferol;placebo
33 Vitamin D and Muscle Strength and Surface (Electromyography) EMG Completed NCT01190683 Phase 3 Cholecalciferol;Calcium Carbonate;cholecalciferol and calcium carbonate
34 GAit, MEmory, Dietary and Vitamin D Completed NCT02086409 Phase 2, Phase 3
35 Vitamin D Status of Pregnant Women and Their Children in Eau Claire, South Carolina Completed NCT00412087 Phase 3 cholecalciferol (vitamin D3);cholecalciferol;cholecalciferol
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 Improving the Understanding of the Response to Vitamin D Supplementation Completed NCT01465178 Phase 3
38 Study Comparing Two Isoforms of Vitamin D Supplements for Infants Completed NCT01190137 Phase 3
39 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
40 Hypovitaminosis D in Neurocritical Patients Recruiting NCT02881957 Phase 2, Phase 3 Cholecalciferol
41 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Recruiting NCT02915705 Phase 3 Oral Phosphate;Active Vitamin D
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 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
45 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
46 Importance of Dosing Regimen for the Effect of Vitamin D Supplementation Not yet recruiting NCT03272126 Phase 3 Vitamin D;Placebo
47 Effect of Vitamin D Supplement on Inflammation Markers in High-Risk Cardiovascular Patients With Chronic Kidney Disease Terminated NCT01012414 Phase 3 paricalcitol;placebo
48 Diabetes Intervention Trial With Vitamin D in Subjects of Nordic and Sub-Indian Ethnicity Unknown status NCT00992797 Phase 2 Cholecalciferol
49 Sleep Apnea Syndrome and Vitamin D Unknown status NCT01323218 Phase 2 25 OH vitamin D
50 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex

Search NIH Clinical Center for Rickets

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: rickets

Genetic Tests for Rickets

Genetic tests related to Rickets:

id Genetic test Affiliating Genes
1 Rickets 29

Anatomical Context for Rickets

MalaCards organs/tissues related to Rickets:

39
Bone, Kidney, Skin, Heart, Liver, Testes, Lung

Publications for Rickets

Articles related to Rickets:

(show top 50) (show all 926)
id Title Authors Year
1
TowardsA Optimizing Calcium and Phosphate Concentration in Parenteral Nutrition for Premature Neonates to Minimize Rickets of Prematurity. ( 28054234 )
2017
2
Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. ( 27900779 )
2017
3
A pediatric hypophosphatemic rickets on MRI, (99m)Tc-MDP bone scan and (18)F-FDG PET/CT. ( 28315917 )
2017
4
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. ( 28608052 )
2017
5
Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. ( 28690912 )
2017
6
Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets? ( 28077342 )
2017
7
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
8
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
9
Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice. ( 28938491 )
2017
10
Rickets in a 6-year-old girl resulting in extreme deformities. ( 28594291 )
2017
11
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
12
Cupping at the ends of ribs is not always rickets. ( 28687698 )
2017
13
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
14
Alopecia in patients with vitamin D-resistant rickets type-II. ( 28538904 )
2017
15
Nutritional rickets in Norway: a nationwide register-based cohort study. ( 28554929 )
2017
16
Vitamin D-Deficient Rickets in Japan. ( 28607944 )
2017
17
Congenital Diarrhea from DGAT1 Mutation Leading to Electrolyte Derangements, Protein-Losing Enteropathy, and Rickets. ( 28937539 )
2017
18
The orthopaedic management of lower limb deformity in hypophosphataemic rickets. ( 28904636 )
2017
19
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
20
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. ( 28587998 )
2017
21
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? ( 28548312 )
2017
22
Nutritional rickets in Taiwanese children: Experiences at a single center. ( 28943082 )
2017
23
QUALITY OF LIFE OF CHILDREN WITH RICKETS IN YOUNG AGE IN ARMENIA. ( 28452729 )
2017
24
Nutritional Rickets and Osteomalacia in the Twenty-first Century: Revised Concepts, Public Health, and Prevention Strategies. ( 28612338 )
2017
25
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
26
Vitamin D deficiency causes rickets in an urban informal settlement in Kenya and is associated with malnutrition. ( 28470840 )
2017
27
Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets. ( 28430915 )
2017
28
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor. ( 27864003 )
2016
29
Nutritional rickets around the world: an update. ( 27922335 )
2016
30
Rickets and osteomalacia: a call for action to protect immigrants and ethnic risk groups. ( 27013305 )
2016
31
Vitamin-D-deficiency rickets even with abundant sunlight -A case to highlight emerging problem. ( 28087963 )
2016
32
Novel Compound Heterozygous Mutations in the CYP27B1 Gene Lead to Pseudovitamin D-Deficient Rickets. ( 27364341 )
2016
33
CYP2R1 mutations causing vitamin D-deficiency rickets. ( 27473561 )
2016
34
Hypophosphatemic Rickets in Siblings: A Rare Case Report. ( 27340574 )
2016
35
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. ( 27771603 )
2016
36
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. ( 27399352 )
2016
37
Fibroblast Growth Factor 23 and Hypophosphatemia: A Case of Hypophosphatemia along the Rickets-Osteomalacia Spectrum. ( 27994603 )
2016
38
Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets. ( 27408766 )
2016
39
A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene. ( 27287609 )
2016
40
Nutritional rickets: vitamin D, calcium, and the genetic make-up. ( 27973470 )
2016
41
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. ( 27242547 )
2016
42
Blount's disease: a rickets mimicker. ( 27177940 )
2016
43
Optimal Dose of Calcium for Treatment of Nutritional Rickets: A Randomized Controlled Trial. ( 27311415 )
2016
44
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. ( 26824597 )
2016
45
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets. ( 28013309 )
2016
46
Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy. ( 27754732 )
2016
47
Digital Paper Prints as Replacement for LASER Films: A Study of Intra-Observer Agreement for Wrist Radiographic Findings in Rickets. ( 27656525 )
2016
48
Prevalence of skeletal deformity due to nutritional rickets in children between 1 and 18 years in tea garden community. ( 27182144 )
2016
49
Vitamin D in health and disease: the global threat of vitamin D deficient rickets. ( 27008694 )
2016
50
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. ( 26741135 )
2016

Variations for Rickets

ClinVar genetic disease variations for Rickets:

6
id 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.

GO Terms for Rickets

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

id 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)
id 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 growth hormone GO:0060416 9.6 PHEX SLC34A1
13 response to magnesium ion GO:0032026 9.59 FGF23 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 response to sodium phosphate GO:1904383 9.52 FGF23 PHEX
23 vitamin D catabolic process GO:0042369 9.51 CYP27B1 FGF23
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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