Categories: Bone diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Rickets

MalaCards integrated aliases for Rickets:

Name: Rickets 12 73 20 29 54 6 42 44 15 17 70
Vitamin D Deficiency 54 6 42 17 70 32
Vitamin D Deficiency Disease 20
Vitamin-D Deficiency Rickets 20
Vitamin D-Dependent Rickets 70
Nutritional Rickets 20
Hypovitaminosis D 20
Active Rickets 12
Vitamin D 42


External Ids:

Disease Ontology 12 DOID:10609
MeSH 44 D012279
NCIt 50 C26878
SNOMED-CT 67 190639009
ICD10 32 E55 E55.0 E55.9
UMLS 70 C0035579 C0042870 C0221468

Summaries for Rickets

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

MalaCards based summary : Rickets, also known as vitamin d deficiency, is related to vitamin d-dependent rickets, type 2a and hereditary hypophosphatemic rickets, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Rickets is PHEX (Phosphate Regulating Endopeptidase Homolog X-Linked), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. The drugs Peginterferon alfa-2a and Dinoprostone have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotypes are Decreased viability and Decreased viability

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

GARD : 20 Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.

Wikipedia : 73 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 1695)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 33.2 VDR PHEX CYP27B1
2 hereditary hypophosphatemic rickets 33.0 SLC34A3 SLC34A1
3 dent disease 1 32.4 SLC34A3 SLC34A1 OCRL CLCN5
4 hypocalcemic vitamin d-dependent rickets 32.3 CYP2R1 CYP27B1
5 hypophosphatemic rickets with hypercalciuria, hereditary 32.3 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
6 idiopathic infantile hypercalcemia 32.2 SLC34A1 CYP24A1
7 vitamin d-dependent rickets 32.2 VDR PTH PHEX CYP3A4 CYP2R1 CYP27B1
8 renal osteodystrophy 32.1 VDR PTH FGF23 BGLAP
9 hypophosphatemic rickets, autosomal dominant 32.0 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
10 autosomal recessive hypophosphatemic rickets 32.0 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
11 glucocorticoid-induced osteoporosis 31.9 VDR PTH BGLAP
12 hypophosphatemic rickets, x-linked recessive 31.9 VDR SLC34A3 SLC34A1 PHEX OCRL MEPE
13 arterial calcification of infancy 31.9 SLC34A3 PHEX FGF23 ENPP1 ALPL
14 pseudohypoparathyroidism, type ib 31.8 SLC34A3 PTH BGLAP
15 fanconi renotubular syndrome 2 31.7 SLC34A3 SLC34A1 PHEX
16 ossification of the posterior longitudinal ligament of spine 31.6 ENPP1 BGLAP
17 hypophosphatemic rickets, x-linked dominant 31.6 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
18 hypophosphatasia, adult 31.4 PTH ENPP1 ALPL
19 osteoporosis, juvenile 31.3 PTH GC BGLAP
20 hypophosphatasia 31.1 PTH PHEX FGF23 ENPP1 BGLAP ALPP
21 tumoral calcinosis, hyperphosphatemic, familial, 1 31.0 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
22 aminoaciduria 30.9 SLC34A1 OCRL CLCN5
23 nephrocalcinosis 30.8 SLC34A3 SLC34A1 PHEX OCRL CYP24A1 CLCN5
24 oncogenic osteomalacia 30.8 PTH PHEX MEPE FGF23 DMP1
25 nevus, epidermal 30.7 PHEX MEPE FGF23 ENPP1
26 hyperparathyroidism 30.6 VDR PTH PHEX GC FGF23 CYP27B1
27 hypercalciuria, absorptive, 2 30.5 VDR SLC34A3 CLCN5
28 osteonecrosis 30.5 PTH CYP3A4 BGLAP
29 bone resorption disease 30.5 VDR PTH FGF23 BGLAP
30 secondary hyperparathyroidism 30.4 VDR PTH PHEX GC FGF23 CYP27B1
31 bone disease 30.4 VDR SLC34A3 PTH PHEX FGF23 BGLAP
32 mccune-albright syndrome 30.3 SLC34A1 FGF23 BGLAP ALPP
33 nephrolithiasis, calcium oxalate 30.3 VDR SLC34A1 CLCN5
34 osteitis fibrosa 30.3 PTH FGF23 BGLAP
35 hypoparathyroidism 30.3 VDR PTH FGF23 BGLAP ALPP
36 chronic kidney disease 30.3 VDR PTH GC FGF23 ENPP1 CYP27B1
37 calcinosis 30.3 PHEX MEPE FGF23 ENPP1 DMP1
38 hyperphosphatemia 30.3 VDR SLC34A1 PTH PHEX FGF23 BGLAP
39 blount's disease 30.2 SLC34A3 FGF23
40 metabolic acidosis 30.2 PTH FGF23 BGLAP
41 raine syndrome 30.2 FGF23 DMP1
42 osteoblastoma 30.2 MEPE FGF23 BGLAP
43 parathyroid adenoma 30.2 VDR PTH BGLAP ALPP
44 fanconi syndrome 30.2 SLC34A3 SLC34A1 PTH PHEX OCRL FGF23
45 idiopathic hypercalciuria 30.1 VDR SLC34A3 CLCN5 BGLAP
46 dental abscess 30.1 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
47 hyperthyroidism 30.1 PTH BGLAP ALPP
48 schimmelpenning-feuerstein-mims syndrome 30.1 SLC34A3 PHEX MEPE FGF23 ENPP1
49 sclerosteosis 30.1 VDR PTH BGLAP
50 type 2 diabetes mellitus 30.0 VDR GC FGF23 ENPP1 CYP3A4 CYP27B1

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

Acute Cystitis Deficiency Anemia

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; sciatica; muscle cramp

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

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

MGI Mouse Phenotypes related to Rickets:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ALPL BGLAP CLCN5 CYP24A1 CYP27B1 CYP2R1
2 growth/size/body region MP:0005378 10.21 ALPL CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1
3 endocrine/exocrine gland MP:0005379 10.06 ALPL BGLAP CYP27B1 FAH FGF23 GC
4 craniofacial MP:0005382 10.03 ALPL CLCN5 CYP27B1 DMP1 ENPP1 PHEX
5 immune system MP:0005387 10 ALPL BGLAP CYP27B1 DMP1 ENPP1 FAH
6 limbs/digits/tail MP:0005371 9.76 ALPL CYP27B1 DMP1 ENPP1 FGF23 PHEX
7 renal/urinary system MP:0005367 9.73 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FAH
8 skeleton MP:0005390 9.53 ALPL BGLAP CLCN5 CYP24A1 CYP27B1 CYP2R1

Drugs & Therapeutics for Rickets

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

(show top 50) (show all 539)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
Dinoprostone Approved Phase 4 363-24-6 5280360
Sevelamer Approved Phase 4 52757-95-6
Goserelin Approved Phase 4 65807-02-5 47725 5311128
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
Adapalene Approved Phase 4 106685-40-9 60164
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
Interferon beta-1b Approved Phase 4 145155-23-3
Tibolone Approved, Investigational Phase 4 5630-53-5
Calcium carbonate Approved, Investigational Phase 4 471-34-1
Ezetimibe Approved Phase 4 163222-33-1 150311
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Racepinephrine Approved Phase 4 329-65-7 838
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
Altretamine Approved Phase 4 645-05-6 2123
Zoledronic Acid Approved Phase 4 118072-93-8 68740
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
Etidronic acid Approved Phase 4 7414-83-7, 2809-21-4 3305
Methyltestosterone Approved Phase 4 58-18-4 6010
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
Testosterone enanthate Approved Phase 4 315-37-7 9416
26 Strontium ranelate Approved, Withdrawn Phase 4 135459-87-9
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
Lactulose Approved Phase 4 4618-18-2 11333
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
Etanercept Approved, Investigational Phase 4 185243-69-0
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
Bazedoxifene Approved, Investigational Phase 4 198481-32-2
Sage Approved Phase 4
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
Indian frankincense Approved, Experimental, Investigational Phase 4
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
Saxagliptin Approved Phase 4 361442-04-8 11243969
Sodium citrate Approved, Investigational Phase 4 68-04-2
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
Levocetirizine Approved Phase 4 130018-77-8 1549000
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 1874)
# Name Status NCT ID Phase Drugs
1 Optimal Initial and Maintenance Doses of Ergocalciferol Supplementation for Treatment of Hypovitaminosis D in Thai Adults: A Randomized, Double-blinded Dose-comparison Study Unknown status NCT03228862 Phase 4 Ergocalciferol
2 Does Administration of Vitamin D in African Americans With Hypovitaminosis D and Type 2 DM Improve Inflammatory Markers of Cardiovascular Disease? Unknown status NCT01153243 Phase 4 Ergocalciferol;Placebo pill
3 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
4 Stability of Dental Implants Placed in Patients With Vitamin D Deficiency Using Sequential Drilling Versus a New One Single Drilling Design: A Randomized Clinical Trial Unknown status NCT03695562 Phase 4
5 Effects of Cholecalciferol on Osteoprotegerin Levels and Other Clinical Outcomes in Chronic Kidney Disease Patients on Peritoneal Dialysis: a Randomized Controlled Trial Unknown status NCT02598635 Phase 4 Cholecalciferol;Placebo
6 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
7 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
8 The Impacts of Vitamin D Supplementation on Glucose Metabolism in Chinese Women With Vitamin D Deficiency and Former Gestational Diabetes Mellitus:A Randomised Control Trial Unknown status NCT03138616 Phase 4 vitamin D
9 Is Treatment of Vitamin D Deficiency Associated With Resolution of Statin-Induced Muscular Symptoms Unknown status NCT01568255 Phase 4 Ergocalciferol;Placebo
10 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
11 Clinical Trial, Open, Parallel Groups , Value the Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4 Hidroferol®;Paricalcitol: Zemplar®;Habitual medication
12 The Assessment of the Effect of Vitamin D Supplementation on the Serum of AGES and Endothelialy Factors and Gene Expression of Glyoxalase Enzyme and YKL-40 Factor in PBMC Cells in the Patients With Type 2 Diabetes . Unknown status NCT03008057 Phase 4
13 Evaluation of the Influence of Alendronate on Wound Healing After Dental Implants in Patients With Osteoporosis Unknown status NCT00727493 Phase 4 alendronate once weekly 70mg;placebo
14 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
15 Effect of Multi-vitamins With Minerals on Uric Acid Metabolism in Subjects With Hyperuricemia: A Randomized, Double-blinded, Placebo-controlled Trail Unknown status NCT03218709 Phase 4
16 Optimal Substitution Dose of the Vitamin D During Winter Time in Patient With Inflammatory Bowel Diseases (IBD) Unknown status NCT02958501 Phase 4 Colecalciferol
17 the Effect of Vitamin D on the Serum Thioredoxin, TBP-2, Thioredoxin Reductase, Gene Expression of TBP-2 in Patients With Type II Diabetes Unknown status NCT01876563 Phase 4
18 Comparisons of the Effect of Inactive and Active Vitamin D on Serum Sclerostin/dickkopf1 Levels Unknown status NCT01765010 Phase 4 Calcitriol;Alfacalcidol;Cholecalciferol;Placebo
19 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension (VDATH) Unknown status NCT01472796 Phase 4 Tekturna(Aliskiren) plus placebo
20 A Randomized, Multi-center, Phase IV Open-label Study Evaluating the Antiviral Efficacy of Addition of Vitamin D in Patients With Treatment Naïve Chronic Hepatitis C Receiving Peginterferon Alfa-2a Plus Ribavirin Unknown status NCT01439776 Phase 4
21 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
22 Vitamin D and Its Topical Analogues: A Possible Role in the Pathogenesis and Treatment of Acne Vulgaris Unknown status NCT03866447 Phase 4 Vitamin D analog;Adapalene
23 Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis: a Double-blind Randomised Controlled Trial Unknown status NCT02507843 Phase 4 Cholecalciferol;Placebo
24 Intervention Study Measuring Inflammatory Cytokine Levels in the Serum of Patients Who Underwent an Acute MI, and the Influence of Vitamin D on These Levels Unknown status NCT01115842 Phase 4 Vitamin D
25 An Open-label Study of Combination of Cinacalcet and Active Vitamin D Analogue in the Management of Severe Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4 Combination Cinacalcet with Vitamin D analogue
26 Providing Intravenous Paricalcitol Treatment to the Sick and Poor Chronic Hemodialysis Patients With Severe Secondary Hyperparathyroidism Resistant to Existing Vitamin D Analogs Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
27 The Effect Of Vitamin D Replacement Therapy On Serum Leptin And Follicular Growth Pattern In Women With Resistant Polycystic Ovarian Syndrome Unknown status NCT03806036 Phase 4 Vitamin D;Clomiphene Citrate
28 Studying the Effect of Methotrexate Alone Versus Methotrexate and Vitamin D on the Cardiovascular Risk of Psoriatic Patients Unknown status NCT03904680 Phase 4 Methotrexate;Vitamin D
29 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
30 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
31 Asthma and Vitamin D (a Clinical Pilot Study) Unknown status NCT00712205 Phase 4 Placebo;Calcitriol
32 Effect of Supplementary Vitamin D in Patients With Diabetes Mellitus and Pulmonary Tuberculosis (EVIDENT Study): a Randomized, Double Blind, Controlled Trial Unknown status NCT02169570 Phase 4
33 Pilot Study of the Effect of a Non-tenofovir, Non-efavirenz-based HIV Regimen on Bone Density and Vitamin D Levels in African-American Patients With HIV Infection Unknown status NCT01343225 Phase 4 atripla;darunavir ritonavir raltegravir
34 Effect of Vitamin D Supplement on Osteoprotegin Expression and Disease Progression in Patients With Chronic Kidney Disease Stage 1 and 2 Unknown status NCT01561222 Phase 4 Calcitriol;placebo
35 Effect of Vitamin d Supplementation on the Control of Persistent Asthma in Children at Dr George Mukhari Academic Hospital, Pretoria, South Africa Unknown status NCT02053402 Phase 4 Vitamin D
36 Effect of Vitamin D as Adjunctive Therapy in Patients With Pulmonary Evolution Tuberculosis in the National Institute of Respiratory Diseases Unknown status NCT02464683 Phase 4
37 Effect of Vitamin D Supplementation in Young Children With Acute Lower Respiratory Tract Infection at Dr George Mukhari Academic Hospital, Pretoria, South Africa Unknown status NCT02054182 Phase 4 Vitamin D
38 Influence of Dermocorticoids on Bone Mineral Density in Patients With Bullous Pemphigoid Unknown status NCT03926377 Phase 4
39 Regulation of Bone Mineralization in Renal Osteodystrophy Unknown status NCT01799317 Phase 4 Vitamin D2
40 Generic Zoledronic Acid Versus Original Zoledronic Acid: A Multicenter, Randomized, Open, Paralled-controlled Clinical Postmenopausal Osteoporotic Women Efficacy and Safety Research. Unknown status NCT03158246 Phase 4 Generic Zoledronic Acid;Original Zoledronic Acid
41 Influence of Vitamin K2 Administration on Vessel Calcification Markers in Patients With Chronic Kidney Disease Unknown status NCT01101698 Phase 4 Vitamin K2+10μg cholecalciferol;Vitamin D
42 Colecalciferol as an Add-on Treatment to Subcutaneously Administered Interferon-beta-1b for Treatment of MS Unknown status NCT01339676 Phase 4 Colecalciferol;Placebo capsules
43 A Randomized Study Comparing Goserelin or Expectant Management Following Laparoscopic Surgery for Advanced Endometriosis Unknown status NCT00654524 Phase 4 gonadotropin-releasing-hormone agonist (GnRHa) - Goserelin
44 Effects of Omega-3 Fatty Acids on Bone and Frailty Unknown status NCT00634686 Phase 4
45 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
46 A Randomized, Double-blind, Placebo-controlled Study on Oral Vitamin D Megadoses - 100 000 or 200 000 IU Vitamin D3 Every Three Months Completed NCT01067898 Phase 4
47 Study of the Effect of Calcifediol Supplementation on Left Ventricular Function in Cardiopathic Patients Undergoing Major Orthopedic Surgery. Completed NCT03403933 Phase 4 Didrogyl
48 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
50 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

Search NIH Clinical Center for Rickets

Inferred drug relations via UMLS 70 / NDF-RT 51 :

Calcifediol Anhydrous
Cod Liver Oil

Cochrane evidence based reviews: rickets

Genetic Tests for Rickets

Genetic tests related to Rickets:

# Genetic test Affiliating Genes
1 Rickets 29

Anatomical Context for Rickets

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


MalaCards organs/tissues related to Rickets:

Bone, Kidney, Liver, Skin, Breast, Heart, Ovary

Publications for Rickets

Articles related to Rickets:

(show top 50) (show all 19519)
# Title Authors PMID Year
Lack of association of baseline 25-hydroxyvitamin D levels with disease severity and mortality in Indian patients hospitalized for COVID-19. 61 42
33737631 2021
Oral high dose vitamin D for the treatment of diabetic patients with COVID-19: A protocol for systematic review and meta-analysis. 42 61
33655919 2021
Vitamin D and Lung Outcomes in Elderly COVID-19 Patients. 61 42
33668240 2021
Correlation between serum 25-hydroxyvitamin D level and diabetic retinopathy: A protocol for systematic review and meta-analysis. 42 61
33530170 2021
The Impact of Vitamin D Level on COVID-19 Infection: Systematic Review and Meta-Analysis. 61 42
33748066 2021
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61 42
32311027 2020
Hypophosphataemic Rickets: Similar Phenotype of Different Diseases. 61 42
32236875 2020
Vitamin D, calcium or a combination of vitamin D and calcium for the treatment of nutritional rickets in children. 61 42
32303107 2020
Association of Vitamin D Levels, Race/Ethnicity, and Clinical Characteristics With COVID-19 Test Results. 42
33739433 2021
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 54 61
20513948 2010
Genetic disorders and defects in vitamin d action. 61 54
20511055 2010
Persistent secondary hyperparathyroidism and vertebral fractures in kidney transplantation: role of calcium-sensing receptor polymorphisms and vitamin D deficiency. 54 61
19839774 2010
Clinical measures identify vitamin D deficiency in dialysis. 61 54
20185603 2010
Vitamin D deficiency: appropriate replenishment therapies and the effects of vitamin D toxicity. 61 54
20363711 2010
A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets. 61 54
20146166 2010
Control of secondary hyperparathyroidism by vitamin D receptor agonists in chronic kidney disease. 54 61
20133492 2010
Physiological role of alkaline phosphatase explored in hypophosphatasia. 61 54
20392236 2010
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. 54 61
19965919 2010
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. 54 61
19815438 2010
Vitamin D receptor genetic polymorphisms and tuberculosis: updated systematic review and meta-analysis. 54 61
20003690 2010
Genetic causes of hypercalciuric nephrolithiasis. 61 54
18446382 2009
Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes. 54 61
19956103 2009
Vitamin D - a new treatment for airway remodelling in asthma? 54 61
19906117 2009
Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. 61 54
19523546 2009
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 61 54
19555782 2009
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 61 54
19609735 2009
Predisposition to vitamin D deficiency osteomalacia and rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism. 54 61
19094076 2009
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 61 54
19335222 2009
Emerging topics in pediatric bone and mineral disorders 2008. 61 54
19615558 2009
Impact of vitamin D deficiency on the clinical presentation and prognosis of patients with newly diagnosed multiple myeloma. 61 54
19415724 2009
Relation between fibroblast growth factor-23, body weight and bone mineral density in elderly men. 54 61
18974917 2009
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 61 54
19049339 2009
Is vitamin D deficiency involved in the immune reconstitution inflammatory syndrome? 61 54
19383117 2009
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. 54 61
19309785 2009
Hypophosphatemia: the common denominator of all rickets. 54 61
19504043 2009
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 54 61
18701809 2009
Management of secondary hyperparathyroidism in the elderly patient with chronic kidney disease. 54 61
19591520 2009
The vitamin D deficiency pandemic and consequences for nonskeletal health: mechanisms of action. 54 61
18801384 2008
Increased bone alkaline phosphatase and isolated subcortical bone uptake of technetium-99m hydroxymethylene diphosphonate in the lower extremities in a patient with Graves' disease: a distinctly unusual variant of Graves' acropachy. 61 54
19014329 2008
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. 54 61
19169476 2008
Vitamin D and human health: lessons from vitamin D receptor null mice. 61 54
18694980 2008
Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. 54 61
18476984 2008
Control of autoimmune diseases by the vitamin D endocrine system. 61 54
18594491 2008
Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. 61 54
18541802 2008
Rickets in the Middle East: role of environment and genetic predisposition. 54 61
18285415 2008
FGF23 is elevated in Gambian children with rickets. 54 61
18234575 2008
Ligand-independent regulation of the hairless promoter by vitamin D receptor. 61 54
18266815 2008
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. 54 61
18429807 2008
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 61 54
18172553 2008
Matrix extracellular phosphoglycoprotein causes phosphaturia in rats by inhibiting tubular phosphate reabsorption. 61 54
18037620 2008

Variations for Rickets

ClinVar genetic disease variations for Rickets:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) SNV Uncertain significance 805882 rs1591284438 GRCh37: 11:68170984-68170984
GRCh38: 11:68403516-68403516
2 CA1 NM_001128831.4(CA1):c.368_369del (p.His123fs) Deletion Uncertain significance 694733 rs768769200 GRCh37: 8:86245835-86245836
GRCh38: 8:85333606-85333607
3 HADHB NM_000183.3(HADHB):c.110-2324G>C SNV Uncertain significance 830363 GRCh37: 2:26483924-26483924
GRCh38: 2:26261056-26261056

Expression for Rickets

Search GEO for disease gene expression data for Rickets.

Pathways for Rickets

Pathways related to Rickets according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
Show member pathways
12.41 GC ENPP1 CYP2R1 CYP27B1 CYP24A1
Show member pathways
12.11 GC CYP2R1 CYP27B1 CYP24A1
4 11.58 VDR SLC34A3 SLC34A1 PTH FGF23 CYP27B1
Show member pathways
11.55 CYP2R1 CYP27B1 CYP24A1
6 11.45 PTH ENPP1 ALPL
7 11.38 VDR SLC34A3 SLC34A1
10 11.1 VDR CYP3A4 CYP27B1 CYP24A1
11 10.78 VDR CYP3A4
12 10.74 ALPP ALPL
13 10.7 VDR CYP3A4
14 10.64 PTH FGF23 BGLAP
15 10.1 VDR PTH GC CYP2R1 CYP27B1 CYP24A1

GO Terms for Rickets

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.92 MEPE FGF23 DMP1 BGLAP

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.89 SLC34A1 MEPE FGF23 DMP1
2 ossification GO:0001503 9.8 SLC34A1 DMP1 BGLAP
3 skeletal system development GO:0001501 9.8 VDR PTH PHEX MEPE BGLAP ALPL
4 osteoblast differentiation GO:0001649 9.79 CYP24A1 BGLAP ALPL
5 bone mineralization GO:0030282 9.75 PHEX CYP27B1 BGLAP
6 regulation of bone mineralization GO:0030500 9.73 FGF23 ENPP1 CYP27B1 BGLAP
7 cellular response to vitamin D GO:0071305 9.7 PHEX FGF23 BGLAP
8 cellular response to parathyroid hormone stimulus GO:0071374 9.69 SLC34A1 PHEX FGF23
9 phosphate ion homeostasis GO:0055062 9.67 SLC34A1 PTH FGF23
10 vitamin metabolic process GO:0006766 9.65 CYP2R1 CYP27B1 CYP24A1
11 phosphate-containing compound metabolic process GO:0006796 9.64 FGF23 ENPP1
12 positive regulation of keratinocyte differentiation GO:0045618 9.63 VDR CYP27B1
13 negative regulation of bone mineralization GO:0030502 9.63 FGF23 ENPP1
14 calcitriol biosynthetic process from calciol GO:0036378 9.63 CYP3A4 CYP2R1 CYP27B1
15 biomineral tissue development GO:0031214 9.63 PHEX MEPE ENPP1 DMP1 BGLAP ALPL
16 response to growth hormone GO:0060416 9.61 SLC34A1 PHEX
17 response to magnesium ion GO:0032026 9.61 SLC34A1 FGF23
18 phosphate ion transport GO:0006817 9.6 SLC34A3 SLC34A1
19 response to parathyroid hormone GO:0071107 9.58 SLC34A1 PTH
20 vitamin D catabolic process GO:0042369 9.58 FGF23 CYP27B1 CYP24A1
21 response to sodium phosphate GO:1904383 9.57 PHEX FGF23
22 vitamin D receptor signaling pathway GO:0070561 9.56 VDR CYP24A1
23 cellular phosphate ion homeostasis GO:0030643 9.56 SLC34A3 SLC34A1 FGF23 ENPP1
24 sodium-dependent phosphate transport GO:0044341 9.55 SLC34A3 SLC34A1
25 vitamin D biosynthetic process GO:0042368 9.54 CYP2R1 CYP27B1
26 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.54 VDR FGF23 CYP27B1
27 response to vitamin D GO:0033280 9.43 PTH PHEX CYP27B1 CYP24A1 BGLAP ALPL
28 vitamin D metabolic process GO:0042359 9.17 VDR GC FGF23 CYP3A4 CYP2R1 CYP27B1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.2 VDR PHEX FAH ENPP1 CYP3A4 CYP2R1
2 heme binding GO:0020037 9.67 CYP3A4 CYP2R1 CYP27B1 CYP24A1
3 iron ion binding GO:0005506 9.62 CYP3A4 CYP2R1 CYP27B1 CYP24A1
4 sodium:phosphate symporter activity GO:0005436 9.43 SLC34A3 SLC34A1
5 alkaline phosphatase activity GO:0004035 9.4 ALPP ALPL
6 vitamin D 24-hydroxylase activity GO:0070576 9.26 CYP3A4 CYP24A1
7 monooxygenase activity GO:0004497 9.26 CYP3A4 CYP2R1 CYP27B1 CYP24A1
8 vitamin D3 25-hydroxylase activity GO:0030343 9.16 CYP3A4 CYP2R1
9 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.92 CYP3A4 CYP2R1 CYP27B1 CYP24A1

Sources for Rickets

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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