MCID: RCK004
MIFTS: 66

Rickets

Categories: Bone diseases, Endocrine diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Rickets

MalaCards integrated aliases for Rickets:

Name: Rickets 11 19 75 28 53 5 41 43 14 16 71
Vitamin D Deficiency 53 5 41 16 71 31 33
Vitamin D Deficiency Disease 19
Vitamin-D Deficiency Rickets 19
Vitamin D-Dependent Rickets 71
Infantile Osteomalacia 33
Juvenile Osteomalacia 33
Nutritional Rickets 19
Hypovitaminosis D 19
Active Rickets 11
Avitaminosis D 33
Vitamin D 41

Classifications:



External Ids:

Disease Ontology 11 DOID:10609
MeSH 43 D012279
NCIt 49 C26878
SNOMED-CT 68 190639009
ICD10 31 E55 E55.0 E55.9
UMLS 71 C0035579 C0042870 C0221468

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 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 3 and dent disease 1, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Rickets is PHEX (Phosphate Regulating Endopeptidase X-Linked), and among its related pathways/superpathways are Metabolism of steroids and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Levocetirizine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related phenotypes are homeostasis/metabolism and renal/urinary system

GARD: 19 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.

Disease Ontology: 11 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: 75 Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary... more...

Related Diseases for Rickets

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

(show top 50) (show all 2103)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 3 32.7 CYP3A4 CYP24A1
2 dent disease 1 32.6 SLC34A3 SLC34A1 CLCN5
3 vitamin d hydroxylation-deficient rickets, type 1a 32.6 VDR PTH PHEX FGF23 DMP1 CYP2R1
4 hypocalcemic vitamin d-dependent rickets 32.5 CYP2R1 CYP27B1
5 vitamin d-dependent rickets, type 2a 32.5 VDR SLC34A3 PTH PHEX FGF23 ENPP1
6 hypophosphatemic rickets, x-linked recessive 32.4 VDR SLC34A3 SLC34A1 PHEX MEPE FGF23
7 vitamin d-dependent rickets type 2b 32.3 FGF23 DMP1 CYP2R1 CYP27B1
8 renal osteodystrophy 32.3 VDR PTH FGF23 BGLAP
9 hypophosphatemic rickets, autosomal dominant 32.2 SLC34A3 PTH PHEX MEPE KL FGF23
10 vitamin d hydroxylation-deficient rickets, type 1b 32.1 VDR SLC34A3 SLC34A1 PTH FGF23 ENPP1
11 hypophosphatemic rickets with hypercalciuria, hereditary 32.0 SLC34A3 SLC34A1 PTH PHEX MEPE KL
12 autosomal recessive hypophosphatemic rickets 31.8 SLC34A3 SLC34A1 PTH PHEX MEPE KL
13 vitamin d-dependent rickets 31.8 VDR SLC34A3 SLC34A1 PTH PHEX GC
14 hypophosphatemic rickets, x-linked dominant 31.8 SPP1 SLC34A3 SLC34A1 PTH PHEX MEPE
15 hypophosphatasia, adult 31.8 PTH ENPP1 ALPL
16 cystinosis 31.7 GC FGF23 CLCN5
17 fanconi renotubular syndrome 2 31.7 SLC34A3 SLC34A1 PHEX DMP1
18 hypophosphatemia 31.7 VDR SPP1 SLC34A3 SLC34A1 PTH PHEX
19 craniosynostosis 31.6 SPP1 PHEX FGF23 ENPP1 BGLAP ALPL
20 hypophosphatasia, childhood 31.6 ENPP1 ALPL
21 osteoporosis, juvenile 31.4 PTH GC BGLAP ALPL
22 hypophosphatasia 31.3 SPP1 PTH PHEX FGF23 ENPP1 BGLAP
23 arterial calcification of infancy 31.2 SPP1 SLC34A3 PHEX KL FGF23 ENPP1
24 fanconi syndrome 31.1 SLC34A3 SLC34A1 PTH PHEX KL GC
25 tumoral calcinosis, hyperphosphatemic, familial, 1 31.0 SLC34A3 PTH PHEX MEPE KL FGF23
26 nephrocalcinosis 31.0 SPP1 SLC34A3 SLC34A1 PHEX CYP24A1 CLCN5
27 secondary hyperparathyroidism 30.9 VDR PTH KL FGF23 CYP27B1 CYP24A1
28 nephrolithiasis, calcium oxalate 30.9 VDR SPP1 SLC34A1 CLCN5
29 hyperparathyroidism 30.8 VDR PTH PHEX KL GC FGF23
30 osteomalacia 30.8 VDR SLC34A3 SLC34A1 PTH PHEX MEPE
31 dental caries 30.7 VDR SPP1 DMP1
32 nevus, epidermal 30.7 PTH PHEX MEPE FGF23 ENPP1
33 mccune-albright syndrome 30.7 PTH PHEX MEPE FGF23
34 bone disease 30.6 VDR SPP1 PTH PHEX FGF23 CYP27B1
35 fibrous dysplasia 30.6 SPP1 FGF23 BGLAP
36 osteonecrosis 30.6 VDR PTH CYP3A4 BGLAP
37 hypoparathyroidism 30.5 VDR PTH FGF23 BGLAP ALPP
38 hypercalciuria, absorptive, 2 30.5 VDR SLC34A3 CLCN5
39 parathyroid adenoma 30.5 VDR PTH ALPP
40 blount's disease 30.4 SLC34A3 FGF23
41 osteitis fibrosa 30.4 PTH FGF23 BGLAP
42 nephrolithiasis 30.4 VDR SPP1 SLC34A3 SLC34A1 PTH FGF23
43 pseudohypoparathyroidism, type ib 30.4 SLC34A3 PTH BGLAP
44 schimmelpenning-feuerstein-mims syndrome 30.4 SLC34A3 PTH PHEX MEPE KL FGF23
45 hyperostosis 30.3 SPP1 KL FGF23 ALPL
46 root resorption 30.2 VDR SPP1 DMP1
47 primary hyperparathyroidism 30.2 VDR PTH KL FGF23 CYP27B1 BGLAP
48 dentin dysplasia 30.2 SPP1 MEPE DMP1
49 chondrocalcinosis 30.2 PTH ENPP1 ALPL
50 sclerosteosis 1 30.2 DMP1 BGLAP

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; sciatica; muscle cramp

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 ALPL ALPP BGLAP CLCN5 CYP24A1 CYP27B1
2 no effect GR00402-S-2 10.2 ALPL ALPP BGLAP CLCN5 CYP24A1 CYP27B1

MGI Mouse Phenotypes related to Rickets:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ALPL BGLAP CLCN5 CYP24A1 CYP27B1 CYP2R1
2 renal/urinary system MP:0005367 10.21 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
3 growth/size/body region MP:0005378 10.2 ALPL CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1
4 limbs/digits/tail MP:0005371 10.06 ALPL CYP27B1 DMP1 ENPP1 FGF23 KL
5 craniofacial MP:0005382 9.96 ALPL CLCN5 CYP27B1 DMP1 ENPP1 KL
6 cellular MP:0005384 9.9 ALPL BGLAP CLCN5 CYP27B1 DMP1 ENPP1
7 immune system MP:0005387 9.73 ALPL BGLAP CYP27B1 DMP1 ENPP1 FGF23
8 skeleton MP:0005390 9.58 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 439)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levocetirizine Approved Phase 4 130018-77-8 1549000
2
Histamine Approved, Investigational Phase 4 51-45-6 774
3
Clomifene Approved, Investigational Phase 4 911-45-5 2800
4
Dinoprostone Approved Phase 4 363-24-6, 7448-03-5 5280360
5
Indian frankincense Approved, Experimental, Investigational Phase 4
6
Adapalene Approved Phase 4 106685-40-9 60164
7
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
8
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4
9
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
10
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
11
Cinacalcet Approved Phase 4 226256-56-0 156419
12
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
13
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
14
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
15
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
16
Ezetimibe Approved Phase 4 163222-33-1 150311
17
Altretamine Approved Phase 4 645-05-6 2123
18
Etidronic acid Approved Phase 4 2809-21-4, 7414-83-7 3305
19
Methyltestosterone Approved Phase 4 58-18-4 6010
20
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0 21873174 65157
21
Testosterone enanthate Approved Phase 4 315-37-7 9416
22
Testosterone Approved, Investigational Phase 4 58-22-0 5408 6013
23
Zoledronic acid Approved Phase 4 118072-93-8 68740
24
Bazedoxifene Approved, Investigational Phase 4 198481-32-2 154257
25
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
26
Lactulose Approved Phase 4 4618-18-2 11333
27
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850 155817470
28
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
30
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
31
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
32
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
33
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
34
Calcium carbonate Approved, Investigational Phase 4 471-34-1
35
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
36
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
37 Orange Approved Phase 4
38
Mecobalamin Approved, Investigational Phase 4 13422-55-4
39
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
40
Rosiglitazone Approved, Investigational Phase 4 122320-73-4, 155141-29-0 77999
41
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
42
Racivir Approved, Investigational Phase 4 143491-57-0, 143491-54-7 60877
43
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6 1130
44
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
45
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
46
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
47
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
49
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
50
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 1773)
# 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 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Unknown status NCT04419363 Phase 4 Burosumab Injection
3 The Impact of Serum Vitamin D and Calcium Levels on the Body Composition, Bone Mineral Density, Muscle Strength, Exercise Tolerance, Fatigue and Inflammatory Activity in Patients With Crohn's Disease: a Randomized Controlled Trial Unknown status NCT02704624 Phase 4
4 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
5 Can Vitamin D Supplementation in People With Crohn's Disease Improve Symptoms as an Adjunct Therapy? D-CODE Feasibility Randomised Controlled Trial Unknown status NCT03718182 Phase 4
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 A Randomised Controlled Trial to Evaluate the Effect of Vitamin D Supplementation in Patients With Chronic Urticaria Unknown status NCT03991845 Phase 4 Vit D
8 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
9 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
10 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
11 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
12 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
13 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
14 Optimal Substitution Dose of the Vitamin D During Winter Time in Patient With Inflammatory Bowel Diseases (IBD) Unknown status NCT02958501 Phase 4 Colecalciferol
15 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
16 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
17 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
18 Asthma and Vitamin D (a Clinical Pilot Study) Unknown status NCT00712205 Phase 4 Placebo;Calcitriol
19 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
20 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
21 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
22 A Multicenter Randomized Open-label Clinical Trial of Vitamin D Combined With HD-DXM Versus HD-DXM for the Treatment of ITP Unknown status NCT04094805 Phase 4 Rocaltrol;Dexamethasone
23 Effects of Bromelain and Boswellia Serrata Casperome With Centella Asiatica and Thiamine, Riboflavin, Pyridoxine, Vitamin D, Superoxide Dismutase on Edema, Paresthesia and Postoperative Pain After Quadrantectomy With or Without Sentinel Lymph Node Biopsy: Blinded Randomized Controlled Study Unknown status NCT04669119 Phase 4
24 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
25 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
26 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
27 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
28 A Phase IV, Double-blind, Randomised, Placebo-controlled Trial to Assess the Efficacy and Safety of Stoss Versus Daily Dose Oral Vitamin D Compared to Placebo for the Treatment of Atopic Dermatitis in Pre-school Aged Children- a Pilot Study Unknown status NCT03257215 Phase 4 Stoss vitamin D;Daily vitamin D;Stoss placebo;Daily placebo
29 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
30 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
31 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
32 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension (VDATH) Unknown status NCT01472796 Phase 4 Tekturna(Aliskiren) plus placebo
33 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
34 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
35 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
36 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
37 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
38 Comparisons of the Effect of Inactive and Active Vitamin D on Serum Sclerostin/dickkopf1 Levels Unknown status NCT01765010 Phase 4 Calcitriol;Alfacalcidol;Cholecalciferol;Placebo
39 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
40 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Completed NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
41 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
42 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
43 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Completed NCT04146935 Phase 4 Burosumab Injection [Crysvita]
44 Study of the Effect of Calcifediol Supplementation on Left Ventricular Function in Cardiopathic Patients Undergoing Major Orthopedic Surgery. Completed NCT03403933 Phase 4 Didrogyl
45 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
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 EFFECT OF THREE DIFFERENT DOSES OF ORAL CHOLECALCIFEROL (1000 IU, 3000 IU AND 6000 IU DAILY) ON SERUM 25-HYDROXYVITAMIN D CHANGES AMONG EPILEPSY PATIENTS WITH HYPOVITAMINOSIS D: A RANDOMIZED PROSPECTIVE STUDY Completed NCT02890823 Phase 4 Cholecalciferol
48 Immunologic Functions of a Single Dose of 100.000 I.U. Cholecalciferol (Vitamin D3) Completed NCT01845142 Phase 4 single administration of 100.000 I.U. vitamin D;Placebo
49 Effect of Escalating Oral Vitamin D Replacement on HOMA-IR in Vitamin D Deficient Type 2 Diabetics Completed NCT04183257 Phase 4 oral vitamin D
50 Styrian Vitamin D Hypertension Trial: A Randomized, Double-blind, Placebo Controlled Trial to Evaluate the Effects of Vitamin D Supplementation on Systolic Ambulatory Blood Pressure in Vitamin D Deficient Hypertensive Patients Completed NCT02136771 Phase 4

Search NIH Clinical Center for Rickets

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Calcifediol Anhydrous
Calcitriol
Cod Liver Oil
Ergocalciferol

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

Organs/tissues related to Rickets:

FMA: Bone
MalaCards : Bone, Liver, Kidney, Skin, Heart, Breast, Skeletal Muscle

Publications for Rickets

Articles related to Rickets:

(show top 50) (show all 42369)
# Title Authors PMID Year
1
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases. 62 41
36461014 2022
2
Vitamin D status in children and its association with glucose metabolism in northern China: a combination of a cross-sectional and retrospective study. 62 41
36446458 2022
3
Pityriasis rubra pilaris with rickets: a rare clinical image. 62 41
36405665 2022
4
Effects of vitamin D supplementation on depression and some selected pro-inflammatory biomarkers: a double-blind randomized clinical trial. 41
36368945 2022
5
Peripheral T-Cells, B-Cells, and Monocytes from Multiple Sclerosis Patients Supplemented with High-Dose Vitamin D Show Distinct Changes in Gene Expression Profiles. 41
36432424 2022
6
Efficacy and Safety of a Personalized Vitamin D3 Loading Dose Followed by Daily 2000 IU in Colorectal Cancer Patients with Vitamin D Insufficiency: Interim Analysis of a Randomized Controlled Trial. 41
36364809 2022
7
The Effect of a Single High Dose of Vitamin D on Serum Levels of Its Metabolites in the Elderly. 41
36336861 2022
8
Efficacy Of Multiple Micronutrients Supplementation On Energy Intake, Calcium And Vitamin D Levels In Underweight Children. 41
36414575 2022
9
Plasma parathyroid hormone response to vitamin D3 supplementation among women of reproductive age: A randomized double-blind placebo-control trial. 41
36356037 2022
10
Genetic disorders and defects in vitamin d action. 53 62
20511055 2010
11
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 53 62
20513948 2010
12
Persistent secondary hyperparathyroidism and vertebral fractures in kidney transplantation: role of calcium-sensing receptor polymorphisms and vitamin D deficiency. 53 62
19839774 2010
13
Clinical measures identify vitamin D deficiency in dialysis. 53 62
20185603 2010
14
Vitamin D deficiency: appropriate replenishment therapies and the effects of vitamin D toxicity. 53 62
20363711 2010
15
Control of secondary hyperparathyroidism by vitamin D receptor agonists in chronic kidney disease. 53 62
20133492 2010
16
A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets. 53 62
20146166 2010
17
Physiological role of alkaline phosphatase explored in hypophosphatasia. 53 62
20392236 2010
18
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. 53 62
19965919 2010
19
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. 53 62
19815438 2010
20
Vitamin D receptor genetic polymorphisms and tuberculosis: updated systematic review and meta-analysis. 53 62
20003690 2010
21
Genetic causes of hypercalciuric nephrolithiasis. 53 62
18446382 2009
22
Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes. 53 62
19956103 2009
23
Vitamin D - a new treatment for airway remodelling in asthma? 53 62
19906117 2009
24
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 53 62
19555782 2009
25
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. 53 62
19523546 2009
26
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 53 62
19609735 2009
27
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. 53 62
19094076 2009
28
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 53 62
19335222 2009
29
Impact of vitamin D deficiency on the clinical presentation and prognosis of patients with newly diagnosed multiple myeloma. 53 62
19415724 2009
30
Relation between fibroblast growth factor-23, body weight and bone mineral density in elderly men. 53 62
18974917 2009
31
Emerging topics in pediatric bone and mineral disorders 2008. 53 62
19615558 2009
32
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. 53 62
19309785 2009
33
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 53 62
19049339 2009
34
Is vitamin D deficiency involved in the immune reconstitution inflammatory syndrome? 53 62
19383117 2009
35
Management of secondary hyperparathyroidism in the elderly patient with chronic kidney disease. 53 62
19591520 2009
36
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 53 62
18701809 2009
37
Hypophosphatemia: the common denominator of all rickets. 53 62
19504043 2009
38
The vitamin D deficiency pandemic and consequences for nonskeletal health: mechanisms of action. 53 62
18801384 2008
39
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. 53 62
19169476 2008
40
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. 53 62
19014329 2008
41
Vitamin D and human health: lessons from vitamin D receptor null mice. 53 62
18694980 2008
42
Control of autoimmune diseases by the vitamin D endocrine system. 53 62
18594491 2008
43
Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. 53 62
18476984 2008
44
Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. 53 62
18541802 2008
45
Rickets in the Middle East: role of environment and genetic predisposition. 53 62
18285415 2008
46
FGF23 is elevated in Gambian children with rickets. 53 62
18234575 2008
47
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. 53 62
18429807 2008
48
Ligand-independent regulation of the hairless promoter by vitamin D receptor. 53 62
18266815 2008
49
Matrix extracellular phosphoglycoprotein causes phosphaturia in rats by inhibiting tubular phosphate reabsorption. 53 62
18037620 2008
50
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 53 62
18172553 2008

Variations for Rickets

ClinVar genetic disease variations for Rickets:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CA1 NM_001128831.4(CA1):c.368_369del (p.His123fs) DEL Uncertain Significance
694733 rs768769200 GRCh37: 8:86245835-86245836
GRCh38: 8:85333606-85333607
2 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) SNV Uncertain Significance
805882 rs1591284438 GRCh37: 11:68170984-68170984
GRCh38: 11:68403516-68403516
3 HADHB NM_000183.3(HADHB):c.110-2324G>C SNV Uncertain Significance
830363 rs764471823 GRCh37: 2:26483924-26483924
GRCh38: 2:26261056-26261056

Expression for Rickets

Search GEO for disease gene expression data for Rickets.

Pathways for Rickets



Pathways directly related to Rickets:

# Pathway Source
1 Defective CYP27B1 causes VDDR1B Reactome 66
2 Defective CYP27B1 causes VDDR1A Reactome 66

Pathways related to Rickets according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 CYP24A1 CYP27B1 CYP2R1 GC VDR
2
Show member pathways
12.19 SPP1 MEPE FGF23 DMP1
3 12.18 VDR SPP1 PTH KL FGF23 CYP3A4
4
Show member pathways
11.86 SPP1 PTH ENPP1 ALPL
5
Show member pathways
11.8 VDR CYP3A4 CYP24A1
6
Show member pathways
11.72 ENPP1 ALPP ALPL
7 11.71 SPP1 PTH BGLAP ALPP
8 11.44 SPP1 KL FGF23 BGLAP
9 11.39 VDR CYP27B1 CYP24A1
10 11.35 VDR SPP1 PTH CYP3A4 CYP27B1 CYP24A1
11 11.26 BGLAP PTH SPP1 VDR
12 11.18 CYP2R1 CYP27B1 CYP24A1
13 11.17 VDR CYP3A4 CYP27B1 CYP24A1
14 10.92 VDR CYP24A1
15 10.79 VDR CYP3A4
17 10.72 VDR CYP3A4
18 10.43 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 vesicle GO:0031982 9.5 SPP1 SLC34A3 SLC34A1 BGLAP
2 endoplasmic reticulum lumen GO:0005788 9.32 SPP1 MEPE FGF23 DMP1 BGLAP

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.3 VDR PTH PHEX MEPE BGLAP ALPL
2 osteoblast differentiation GO:0001649 10.22 ALPL BGLAP CYP24A1 SPP1
3 bone mineralization GO:0030282 10.15 PTH PHEX ENPP1 CYP27B1 BGLAP ALPL
4 positive regulation of bone mineralization GO:0030501 10.11 VDR PTH KL
5 calcium ion homeostasis GO:0055074 10.09 ALPL CYP27B1 FGF23 KL PTH
6 regulation of bone mineralization GO:0030500 10.08 BGLAP CYP27B1 ENPP1 FGF23
7 ossification GO:0001503 10.07 SPP1 SLC34A1 DMP1 BGLAP
8 decidualization GO:0046697 10.06 CYP27B1 SPP1 VDR
9 cellular response to parathyroid hormone stimulus GO:0071374 10.04 SLC34A1 PHEX FGF23
10 response to sodium phosphate GO:1904383 10.03 PHEX FGF23 ALPL
11 vitamin metabolic process GO:0006766 10.02 CYP2R1 CYP27B1 CYP24A1
12 cellular phosphate ion homeostasis GO:0030643 10.01 SLC34A3 SLC34A1 FGF23 ENPP1
13 cellular response to vitamin D GO:0071305 10 PHEX FGF23 CYP24A1 BGLAP
14 response to macrophage colony-stimulating factor GO:0036005 9.99 ALPL BGLAP SPP1
15 calcitriol biosynthetic process from calciol GO:0036378 9.97 CYP27B1 CYP2R1 CYP3A4
16 phosphate ion homeostasis GO:0055062 9.96 SLC34A1 PTH FGF23 ENPP1 ALPL
17 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.95 VDR FGF23 CYP27B1
18 sodium-dependent phosphate transport GO:0044341 9.94 SLC34A3 SLC34A1
19 positive regulation of vitamin D receptor signaling pathway GO:0070564 9.93 VDR CYP27B1
20 vitamin D catabolic process GO:0042369 9.92 CYP24A1 CYP27B1 CYP3A4 FGF23
21 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.91 KL FGF23
22 vitamin D receptor signaling pathway GO:0070561 9.9 VDR CYP24A1
23 biomineral tissue development GO:0031214 9.85 SPP1 PHEX MEPE ENPP1 DMP1 BGLAP
24 response to fibroblast growth factor GO:0071774 9.82 PTH KL
25 response to parathyroid hormone GO:0071107 9.78 SLC34A1 PTH
26 vitamin D metabolic process GO:0042359 9.7 CYP24A1 CYP27B1 CYP2R1 CYP3A4 FGF23 GC
27 obsolete biomineralization GO:0110148 9.62 ENPP1 ALPL
28 vitamin D biosynthetic process GO:0042368 9.58 CYP2R1 CYP27B1
29 response to vitamin D GO:0033280 9.5 SPP1 PTH PHEX KL CYP27B1 CYP24A1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.06 CYP3A4 CYP2R1 CYP27B1 CYP24A1
2 iron ion binding GO:0005506 10.03 CYP3A4 CYP2R1 CYP27B1 CYP24A1
3 alkaline phosphatase activity GO:0004035 9.71 ALPL ALPP
4 vitamin D binding GO:0005499 9.67 GC KL
5 vitamin D3 25-hydroxylase activity GO:0030343 9.62 CYP3A4 CYP2R1
6 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity GO:0062181 9.46 CYP3A4 CYP24A1
7 vitamin D 24-hydroxylase activity GO:0070576 9.43 CYP3A4 CYP24A1
8 monooxygenase activity GO:0004497 9.35 CYP3A4 CYP2R1 CYP27B1 CYP24A1
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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