VDDR
MCID: RCK004
MIFTS: 68

Rickets (VDDR)

Categories: Bone diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Rickets

MalaCards integrated aliases for Rickets:

Name: Rickets 12 74 20 29 54 6 42 44 15 17 71
Vitamin D Deficiency 54 6 42 17 71 32
Vitamin D-Dependent Rickets 12 43 36 6 71
Vitamin D Hydroxylation-Deficient Rickets 12
Vitamin D Deficiency Disease 20
Vitamin-D Deficiency Rickets 20
Nutritional Rickets 20
Hypovitaminosis D 20
Active Rickets 12
Vitamin D 42
Vddr 43

Classifications:



External Ids:

Disease Ontology 12 DOID:10609
KEGG 36 H01143
ICD9CM 34 268.0
MeSH 44 D012279
NCIt 50 C26878
SNOMED-CT 67 190639009 68295002
ICD10 32 E55 E55.0 E55.9
UMLS 71 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 Steroid biosynthesis and Endocrine and other factor-regulated calcium reabsorption. The drugs Peginterferon alfa-2a and Dinoprostone have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, 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.

MedlinePlus Genetics : 43 Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.

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.

KEGG : 36 Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.

Wikipedia : 74 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 1676)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 2a 33.3 VDR CYP27B1
2 hereditary hypophosphatemic rickets 33.0 SLC34A3 SLC34A1
3 dent disease 1 32.5 SLC34A3 SLC34A1 OCRL CLCN5
4 hypocalcemic vitamin d-dependent rickets 32.4 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 renal osteodystrophy 32.2 VDR PTH FGF23 BGLAP
8 hypophosphatemic rickets, x-linked recessive 32.1 VDR SLC34A3 SLC34A1 PHEX MEPE FGF23
9 hypophosphatemic rickets, autosomal dominant 32.1 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
10 autosomal recessive hypophosphatemic rickets 32.0 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
11 glucocorticoid-induced osteoporosis 32.0 VDR PTH BGLAP
12 pseudohypoparathyroidism, type ib 31.9 SLC34A3 PTH BGLAP
13 arterial calcification of infancy 31.8 SLC34A3 PHEX FGF23 ENPP1 ALPL
14 fanconi renotubular syndrome 2 31.7 SLC34A3 SLC34A1 PHEX
15 ossification of the posterior longitudinal ligament of spine 31.6 ENPP1 BGLAP
16 hypophosphatemic rickets, x-linked dominant 31.6 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
17 hypophosphatasia, adult 31.4 PTH ENPP1 ALPL
18 osteoporosis, juvenile 31.4 PTH GC BGLAP
19 hypophosphatasia 31.2 PTH PHEX FGF23 ENPP1 BGLAP ALPP
20 aminoaciduria 31.0 SLC34A1 OCRL CLCN5
21 tumoral calcinosis, hyperphosphatemic, familial, 1 30.9 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
22 nevus, epidermal 30.8 PHEX FGF23 ENPP1
23 nephrocalcinosis 30.8 SLC34A3 SLC34A1 PHEX OCRL CYP24A1 CLCN5
24 oncogenic osteomalacia 30.8 PTH PHEX MEPE FGF23 DMP1
25 hyperparathyroidism 30.7 VDR PTH PHEX GC FGF23 CYP27B1
26 secondary hyperparathyroidism 30.5 VDR PTH PHEX GC FGF23 CYP27B1
27 osteonecrosis 30.5 PTH CYP3A4 BGLAP
28 bone resorption disease 30.5 VDR PTH FGF23 BGLAP
29 hypercalciuria, absorptive, 2 30.5 VDR SLC34A3 CLCN5
30 bone disease 30.5 VDR SLC34A3 PTH PHEX FGF23 BGLAP
31 hypoparathyroidism 30.4 VDR PTH FGF23 BGLAP ALPP
32 mccune-albright syndrome 30.4 SLC34A1 FGF23 BGLAP ALPP
33 osteitis fibrosa 30.4 PTH FGF23 BGLAP
34 nephrolithiasis, calcium oxalate 30.4 VDR SLC34A1 CLCN5
35 metabolic acidosis 30.4 PTH FGF23 BGLAP
36 hyperphosphatemia 30.3 VDR SLC34A1 PTH PHEX FGF23 BGLAP
37 calcinosis 30.3 PHEX MEPE FGF23 ENPP1 DMP1
38 parathyroid adenoma 30.3 VDR PTH BGLAP ALPP
39 blount's disease 30.3 SLC34A3 FGF23
40 osteoblastoma 30.2 MEPE FGF23 BGLAP
41 raine syndrome 30.2 FGF23 DMP1
42 hyperthyroidism 30.2 PTH BGLAP ALPP
43 fanconi syndrome 30.2 SLC34A3 SLC34A1 PTH PHEX OCRL FGF23
44 idiopathic hypercalciuria 30.2 VDR SLC34A3 CLCN5 BGLAP
45 dental abscess 30.2 SLC34A3 PTH PHEX MEPE FGF23 ENPP1
46 sclerosteosis 30.1 VDR PTH BGLAP
47 osteomalacia 30.1 VDR SLC34A3 SLC34A1 PTH PHEX MEPE
48 nephrolithiasis 30.1 VDR SLC34A3 SLC34A1 PTH FGF23 CYP24A1
49 type 2 diabetes mellitus 30.1 VDR GC FGF23 ENPP1 CYP3A4 CYP27B1
50 schimmelpenning-feuerstein-mims syndrome 30.1 SLC34A3 PHEX MEPE FGF23 ENPP1

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:

26
# 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:

46
# 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 528)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
2
Dinoprostone Approved Phase 4 363-24-6 5280360
3
Zoledronic Acid Approved Phase 4 118072-93-8 68740
4
Sevelamer Approved Phase 4 52757-95-6
5
Goserelin Approved Phase 4 65807-02-5 47725 5311128
6
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
7
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
8
Interferon beta-1b Approved Phase 4 145155-23-3
9
Tibolone Approved, Investigational Phase 4 5630-53-5
10
Ezetimibe Approved Phase 4 163222-33-1 150311
11
Racepinephrine Approved Phase 4 329-65-7 838
12
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
13
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
14
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
15
Altretamine Approved Phase 4 645-05-6 2123
16
Cinacalcet Approved Phase 4 226256-56-0 156419
17
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
18
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
19
Testosterone enanthate Approved Phase 4 315-37-7 9416
20
Methyltestosterone Approved Phase 4 58-18-4 6010
21
Etidronic acid Approved Phase 4 2809-21-4, 7414-83-7 3305
22
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
23
Bazedoxifene Approved, Investigational Phase 4 198481-32-2
24
Lactulose Approved Phase 4 4618-18-2 11333
25
Etanercept Approved, Investigational Phase 4 185243-69-0
26
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
27
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
28
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
29
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
30
Sage Approved Phase 4
31
Zinc Approved, Investigational Phase 4 7440-66-6 32051
32
Tocopherol Approved, Investigational Phase 4 1406-66-2
33
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
34
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
35
Indian frankincense Approved, Experimental, Investigational Phase 4
36
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
37
Saxagliptin Approved Phase 4 361442-04-8 11243969
38
Sodium citrate Approved, Investigational Phase 4 68-04-2
39
Levocetirizine Approved Phase 4 130018-77-8 1549000
40
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
41
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
43
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
44
Adapalene Approved Phase 4 106685-40-9 60164
45
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
46
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
47
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
48
tannic acid Approved Phase 4 1401-55-4
49
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
50 Orange Approved Phase 4

Interventional clinical trials:

(show top 50) (show all 1848)
# 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 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 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
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 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
8 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
9 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
10 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
11 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
12 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
13 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
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 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
16 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
17 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
18 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
19 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
20 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
21 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
22 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
23 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
24 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
25 Asthma and Vitamin D (a Clinical Pilot Study) Unknown status NCT00712205 Phase 4 Placebo;Calcitriol
26 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension (VDATH) Unknown status NCT01472796 Phase 4 Tekturna(Aliskiren) plus placebo
27 Comparisons of the Effect of Inactive and Active Vitamin D on Serum Sclerostin/dickkopf1 Levels Unknown status NCT01765010 Phase 4 Calcitriol;Alfacalcidol;Cholecalciferol;Placebo
28 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
29 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
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 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
32 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
33 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
34 Colecalciferol as an Add-on Treatment to Subcutaneously Administered Interferon-beta-1b for Treatment of MS Unknown status NCT01339676 Phase 4 Colecalciferol;Placebo capsules
35 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
36 Regulation of Bone Mineralization in Renal Osteodystrophy Unknown status NCT01799317 Phase 4 Vitamin D2
37 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
38 Effects of Omega-3 Fatty Acids on Bone and Frailty Unknown status NCT00634686 Phase 4
39 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
40 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
41 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
42 Study of the Effect of Calcifediol Supplementation on Left Ventricular Function in Cardiopathic Patients Undergoing Major Orthopedic Surgery. Completed NCT03403933 Phase 4 Didrogyl
43 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
44 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
45 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
46 A Study, Four Parallel Arms, Included Two Arms Open Randomisation to Different Doses of Vitamin D, for Assessment of Efficacy of Treatment With Vitamin D at Vitamin D Deficiency, Vitamin D Insufficiency and Suboptimal Levels of Vitamin D Completed NCT01419119 Phase 4 Cholecalciferol;Cholecalciferol;Cholecalciferol;Cholecalciferol
47 Effects of Vitamin D Supplements on Pregnancy Outcomes in Embriyo Transfer Cycles Completed NCT03890458 Phase 4 DEVIT-3
48 Vitamin D Dose-response Study Throughout Pregnancy and Lactation Completed NCT01112891 Phase 4 Vitamin D;Vitamin D3;Vitamin D
49 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
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 51 :


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 29

Anatomical Context for Rickets

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

19
Bone

MalaCards organs/tissues related to Rickets:

40
Bone, Kidney, Skin, Liver, Breast, Prostate, Ovary

Publications for Rickets

Articles related to Rickets:

(show top 50) (show all 19321)
# Title Authors PMID Year
1
Vitamin D status was associated with sepsis in critically ill children: A PRISMA compliant systematic review and meta-analysis. 61 42
33466129 2021
2
Correlation between serum 25-hydroxyvitamin D level and diabetic retinopathy: A protocol for systematic review and meta-analysis. 61 42
33530170 2021
3
Sorting Out Whether Vitamin D Deficiency Raises COVID-19 Risk. 61 42
33404587 2021
4
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting. 61 42
33107440 2020
5
Effect of cholecalciferol on serum hepcidin and parameters of anaemia and CKD-MBD among haemodialysis patients: a randomized clinical trial. 61 42
32968158 2020
6
Oral health-related quality of life in X-linked hypophosphataemia and osteogenesis imperfecta. 42
33058298 2021
7
Unraveling the roles of vitamin D status and melanin during Covid‑19 (Review). 42
33416113 2021
8
Genetic disorders and defects in vitamin d action. 61 54
20511055 2010
9
[Bone and joint diseases in children. Phosphaturic hormone, FGF23, and bone metabolism]. 54 61
20513948 2010
10
Persistent secondary hyperparathyroidism and vertebral fractures in kidney transplantation: role of calcium-sensing receptor polymorphisms and vitamin D deficiency. 54 61
19839774 2010
11
A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets. 54 61
20146166 2010
12
Physiological role of alkaline phosphatase explored in hypophosphatasia. 61 54
20392236 2010
13
Vitamin D deficiency: appropriate replenishment therapies and the effects of vitamin D toxicity. 61 54
20363711 2010
14
Clinical measures identify vitamin D deficiency in dialysis. 54 61
20185603 2010
15
Control of secondary hyperparathyroidism by vitamin D receptor agonists in chronic kidney disease. 54 61
20133492 2010
16
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. 61 54
19965919 2010
17
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
18
Vitamin D receptor genetic polymorphisms and tuberculosis: updated systematic review and meta-analysis. 54 61
20003690 2010
19
Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes. 54 61
19956103 2009
20
Genetic causes of hypercalciuric nephrolithiasis. 61 54
18446382 2009
21
Vitamin D - a new treatment for airway remodelling in asthma? 54 61
19906117 2009
22
Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. 54 61
19555782 2009
23
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. 54 61
19523546 2009
24
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
25
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice. 61 54
19609735 2009
26
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 61 54
19335222 2009
27
Relation between fibroblast growth factor-23, body weight and bone mineral density in elderly men. 54 61
18974917 2009
28
Impact of vitamin D deficiency on the clinical presentation and prognosis of patients with newly diagnosed multiple myeloma. 54 61
19415724 2009
29
Emerging topics in pediatric bone and mineral disorders 2008. 54 61
19615558 2009
30
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. 61 54
19309785 2009
31
Is vitamin D deficiency involved in the immune reconstitution inflammatory syndrome? 61 54
19383117 2009
32
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 54 61
19049339 2009
33
Management of secondary hyperparathyroidism in the elderly patient with chronic kidney disease. 54 61
19591520 2009
34
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. 54 61
18701809 2009
35
Hypophosphatemia: the common denominator of all rickets. 61 54
19504043 2009
36
The vitamin D deficiency pandemic and consequences for nonskeletal health: mechanisms of action. 54 61
18801384 2008
37
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. 61 54
19169476 2008
38
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
39
Vitamin D and human health: lessons from vitamin D receptor null mice. 54 61
18694980 2008
40
Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. 54 61
18476984 2008
41
Control of autoimmune diseases by the vitamin D endocrine system. 54 61
18594491 2008
42
Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis. 54 61
18541802 2008
43
Rickets in the Middle East: role of environment and genetic predisposition. 54 61
18285415 2008
44
FGF23 is elevated in Gambian children with rickets. 54 61
18234575 2008
45
Ligand-independent regulation of the hairless promoter by vitamin D receptor. 61 54
18266815 2008
46
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. 61 54
18429807 2008
47
Matrix extracellular phosphoglycoprotein causes phosphaturia in rats by inhibiting tubular phosphate reabsorption. 54 61
18037620 2008
48
Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. 54 61
18172553 2008
49
Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets. 54 61
18365588 2008
50
A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. 61 54
17710565 2008

Variations for Rickets

ClinVar genetic disease variations for Rickets:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP5 NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) SNV Uncertain significance 805882 rs1591284438 11:68170984-68170984 11:68403516-68403516
2 VDR NM_000376.3(VDR):c.*948_*950GAG[1] Microsatellite Uncertain significance 308855 rs886049429 12:48237576-48237578 12:47843793-47843795
3 CYP27B1 NM_000785.4(CYP27B1):c.*426_*428dup Duplication Uncertain significance 309991 rs886049722 12:58156496-58156497 12:57762713-57762714
4 VDR NM_000376.3(VDR):c.-84+5056C>T SNV Uncertain significance 308890 rs886049439 12:48293682-48293682 12:47899899-47899899
5 VDR NM_000376.3(VDR):c.*2391C>G SNV Uncertain significance 308821 rs886049415 12:48236138-48236138 12:47842355-47842355
6 VDR NM_000376.3(VDR):c.*2118_*2122del Deletion Uncertain significance 308830 rs17878969 12:48236407-48236411 12:47842624-47842628
7 VDR NM_000376.3(VDR):c.*2100_*2105del Deletion Uncertain significance 308833 rs886049422 12:48236424-48236429 12:47842641-47842646
8 VDR NM_000376.3(VDR):c.*1235_*1239CCAGC[4] Microsatellite Uncertain significance 308850 rs11574130 12:48237279-48237280 12:47843496-47843497
9 VDR NM_000376.3(VDR):c.*1179del Deletion Uncertain significance 308853 rs530894692 12:48237350-48237350 12:47843567-47843567
10 VDR NM_001017535.1(VDR):c.146+9dup Duplication Uncertain significance 308885 rs748166237 12:48272741-48272742 12:47878958-47878959
11 VDR NM_000376.3(VDR):c.*2122dup Duplication Uncertain significance 308831 rs17878969 12:48236406-48236407 12:47842623-47842624
12 VDR NM_000376.3(VDR):c.*1178A>C SNV Uncertain significance 308854 rs886049428 12:48237351-48237351 12:47843568-47843568
13 VDR NM_000376.3(VDR):c.*2658dup Duplication Uncertain significance 308817 rs886049413 12:48235870-48235871 12:47842087-47842088
14 VDR NM_000376.3(VDR):c.*2102del Deletion Uncertain significance 308834 rs886049423 12:48236427-48236427 12:47842644-47842644
15 VDR NM_000376.3(VDR):c.*2124dup Duplication Uncertain significance 308829 rs886049419 12:48236404-48236405 12:47842621-47842622
16 VDR NM_000376.3(VDR):c.*1253T>A SNV Uncertain significance 308849 rs886049427 12:48237276-48237276 12:47843493-47843493
17 CA1 NM_001128831.4(CA1):c.368_369del (p.His123fs) Deletion Uncertain significance 694733 rs768769200 8:86245835-86245836 8:85333606-85333607
18 HADHB NM_000183.3(HADHB):c.110-2324G>C SNV Uncertain significance 830363 2:26483924-26483924 2:26261056-26261056
19 VDR NM_000376.3(VDR):c.*2117_*2122del Deletion Benign 308832 rs17878969 12:48236407-48236412 12:47842624-47842629

Expression for Rickets

Search GEO for disease gene expression data for Rickets.

Pathways for Rickets

Pathways related to Rickets according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100
2 Endocrine and other factor-regulated calcium reabsorption hsa04961
3 Mineral absorption hsa04978

Pathways related to Rickets according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 GC ENPP1 CYP2R1 CYP27B1 CYP24A1
2
Show member pathways
12.11 GC CYP2R1 CYP27B1 CYP24A1
3 11.66 PTH BGLAP ALPP
4 11.58 VDR SLC34A3 SLC34A1 PTH FGF23 CYP27B1
5
Show member pathways
11.55 CYP2R1 CYP27B1 CYP24A1
6 11.45 PTH ENPP1 ALPL
7 11.38 VDR SLC34A3 SLC34A1
8 11.29 VDR PTH CYP3A4 CYP27B1 CYP24A1 BGLAP
9 11.14 VDR PTH BGLAP
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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