VDDR
MCID: RCK004
MIFTS: 61

Rickets (VDDR) malady

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

Aliases & Classifications for Rickets

Aliases & Descriptions for Rickets:

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

Classifications:



External Ids:

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

Summaries for Rickets

MedlinePlus : 41 what is vitamin d deficiency? vitamin d deficiency means that you are not getting enough vitamin d to stay healthy. why do i need vitamin d and how do i get it? vitamin d helps your body absorb calcium. calcium is one of the main building blocks of bone. vitamin d also has a role in your nervous, muscle, and immune systems. you can get vitamin d in three ways: through your skin, from your diet, and from supplements. your body forms vitamin d naturally after exposure to sunlight. but too much sun exposure can lead to skin aging and skin cancer, so many people try to get their vitamin d from other sources. how much vitamin d do i need? the amount of vitamin d you need each day depends on your age. the recommended amounts, in international units (iu), are birth to 12 months: 400 iu children 1-13 years: 600 iu teens 14-18 years: 600 iu adults 19-70 years: 600 iu adults 71 years and older: 800 iu pregnant and breastfeeding women: 600 iu people at high risk of vitamin d deficiency may need more. check with your health care provider about how much you need. what causes vitamin d deficiency? you can become deficient in vitamin d for different reasons: you don't get enough vitamin d in your diet you don't absorb enough vitamin d from food (a malabsorption problem) you don't get enough exposure to sunlight. your liver or kidneys cannot convert vitamin d to its active form in the body. you take medicines that interfere with your body's ability to convert or absorb vitamin d who is at risk of vitamin d deficiency? some people are at higher risk of vitamin d deficiency: breastfed infants, because human milk is a poor source of vitamin d. if you are breastfeeding, give your infant a supplement of 400 iu of vitamin d every day. older adults, because your skin doesn't make vitamin d when exposed to sunlight as efficiently as when you were young, and your kidneys are less able to convert vitamin d to its active form. people with dark skin, which has less ability to produce vitamin d from the sun. people with disorders such as crohn's disease or celiac disease who don't handle fat properly, because vitamin d needs fat to be absorbed. people who are obese, because their body fat binds to some vitamin d and prevents it from getting into the blood. people who have had gastric bypass surgery people with osteoporosis people with chronic kidney or liver disease. people with hyperparathyroidism (too much of a hormone that controls the body's calcium level) people with sarcoidosis, tuberculosis, histoplasmosis, or other granulomatous disease (disease with granulomas, collections of cells caused by chronic inflammation) people with some lymphomas, a type of cancer. people who take medicines that affect vitamin d metabolism, such as cholestyramine (a cholesterol drug), ant seizure drugs, glucocorticoids, antifungal drugs, and hiv/aids medicines. talk with your health care provider if you are at risk for vitamin d deficiency. there is a blood test which can measure how much vitamin d is in your body. what problems does vitamin d deficiency cause? vitamin d deficiency can lead to a loss of bone density, which can contribute to osteoporosis and fractures. severe vitamin d deficiency can also lead to other diseases. in children, it can cause rickets. rickets is a rare disease that causes the bones to become soft and bend. african american infants and children are at higher risk of getting rickets. in adults, severe vitamin d deficiency leads to osteomalacia. osteomalacia causes weak bones, bone pain, and muscle weakness. researchers are studying vitamin d for its possible connections to several medical conditions, including diabetes, high blood pressure, cancer, and autoimmune conditions such as multiple sclerosis. they need to do more research before they can understand the effects of vitamin d on these conditions. how can i get more vitamin d? there are a few foods that naturally have some vitamin d: fatty fish such as salmon, tuna, and mackerel beef liver cheese mushrooms egg yolks you can also get vitamin d from fortified foods. you can check the food labels to find out whether a food has vitamin d. foods that often have added vitamin d include milk breakfast cereals orange juice other dairy products, such as yogurt soy drinks vitamin d is in many multivitamins. there are also vitamin d supplements, both in pills and a liquid for babies. if you have vitamin d deficiency, the treatment is with supplements. check with your health care provider about how much you need to take, how often you need to take it, and how long you need to take it. can too much vitamin d be harmful? getting too much vitamin d (known as vitamin d toxicity) can be harmful. signs of toxicity include nausea, vomiting, poor appetite, constipation, weakness, and weight loss. excess vitamin d can also damage the kidneys. too much vitamin d also raises the level of calcium in your blood. high levels of blood calcium (hyperkalemia) can cause confusion, disorientation, and problems with heart rhythm. most cases of vitamin d toxicity happen when someone overuses vitamin d supplements. excessive sun exposure doesn't cause vitamin d poisoning because the body limits the amount of this vitamin it produces.

MalaCards based summary : Rickets, also known as vitamin d-dependent rickets, is related to hypophosphatasia, adult and hypophosphatemic rickets, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Rickets is PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Benzocaine and Dinoprostone have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are homeostasis/metabolism and cardiovascular system

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.

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

NIH Rare Diseases : 50 rickets is a condition that causes children to have soft, weak bones. it usually occurs when children do not get enough vitamin d, which helps growing bones absorb important nutrients. vitamin d comes from sunlight and food. skin produces vitamin d in response to the sun's rays. some foods also contain vitamin d, including fortified dairy products and cereals, and some kinds of fish. last updated: 7/26/2013

Wikipedia : 71 Rickets is defective mineralization or calcification of bones before epiphyseal closure in immature... more...

Related Diseases for Rickets

Diseases in the Rickets family:

Rickets Due to Defect in Vitamin D 25-Hydroxylation

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

(show top 50) (show all 189)
id Related Disease Score Top Affiliating Genes
1 hypophosphatasia, adult 31.0 BGLAP ENPP1 PTH
2 hypophosphatemic rickets 12.3
3 hypophosphatemic rickets, x-linked dominant 12.3
4 hypophosphatemic rickets with hypercalciuria 12.3
5 vitamin d-dependent rickets, type i 12.3
6 rickets, vitamin d-resistant, type iia 12.3
7 hypophosphatemic rickets, autosomal dominant 12.2
8 hereditary hypophosphatemic rickets 12.1
9 autosomal recessive hypophosphatemic rickets 12.1
10 rickets due to defect in vitamin d 25-hydroxylation 12.1
11 hypophosphatemic rickets, autosomal recessive, 2 12.1
12 hypophosphatemic rickets, ar 12.1
13 vitamin d-dependent rickets type ii 12.0
14 hypocalcemic vitamin d-dependent rickets 12.0
15 hypophosphatemic rickets and hyperparathyroidism 11.9
16 epidermal nevus vitamin d resistant rickets 11.7
17 osteomalacia 11.5
18 dent disease 11.5
19 renal osteodystrophy 11.3
20 craniosynostosis 11.2
21 fanconi-bickel syndrome 11.0
22 lowe syndrome 11.0
23 tyrosinemia, type i 11.0
24 metaphyseal chondrodysplasia, schmid type 10.7
25 nephrolithiasis, type i 10.7
26 tumoral calcinosis, hyperphosphatemic, familial 10.7
27 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 10.7
28 fanconi renotubular syndrome 3 10.7
29 metaphyseal dysplasia, spahr type 10.7
30 fanconi renotubular syndrome 1 10.7
31 slc4a1-associated distal renal tubular acidosis 10.7
32 ossification of the posterior longitudinal ligament of spine 10.7
33 fanconi renotubular syndrome 2 10.7
34 achalasia-addisonianism-alacrimia syndrome 10.3 CYP27B1 VDR
35 severe intellectual disability and progressive spastic paraplegia 10.2 CYP27B1 CYP2R1
36 wiedemann-steiner syndrome 10.2 FGF23 PHEX
37 keratoderma with woolly hair 10.2 SLC34A1 SLC34A3
38 acute maxillary sinusitis 10.2 DMP1 FGF23 PHEX
39 familial atrial fibrillation 10.2 ENPP1 FGF23 PHEX
40 peroxisome biogenesis disorder 2b 10.2 FGF23 PHEX SLC34A3
41 ventricular tachycardia, catecholaminergic polymorphic, 3 10.2 DMP1 FGF23
42 deafness, nonsyndromic, modifier 1 10.2 CLCN5 SLC34A3 VDR
43 kniest dysplasia 10.1 CYP27A1 CYP27B1
44 alopecia 10.1
45 hypophosphatemia 10.1
46 maroteaux stanescu cousin syndrome 10.1 BGLAP FGF23 PHEX
47 x-linked hereditary ataxia 10.1 DMP1 ENPP1 FGF23 PHEX
48 hyperparathyroidism 10.1
49 oligospermia 10.1 FGF23 KL
50 hypochondrogenesis 10.1 BGLAP PTH

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


Acute Cystitis Deficiency Anemia
Osteoporosis

Graphical network of the top 20 diseases related to Rickets:



Diseases related to Rickets

Symptoms & Phenotypes for Rickets

UMLS symptoms related to Rickets:


back pain, muscle cramp, sciatica

MGI Mouse Phenotypes related to Rickets:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 CLCN5 CYP27A1 CYP27B1 CYP2R1 DMP1 ENPP1
2 cardiovascular system MP:0005385 10.06 PTH VDR CYP27A1 CYP27B1 DMP1 ENPP1
3 growth/size/body region MP:0005378 10.06 VDR CLCN5 CYP27B1 DMP1 ENPP1 FGF23
4 craniofacial MP:0005382 9.91 CLCN5 CYP27B1 DMP1 PHEX PTH VDR
5 endocrine/exocrine gland MP:0005379 9.91 CYP27A1 CYP27B1 FGF23 GC KL PTH
6 digestive/alimentary MP:0005381 9.88 CYP27A1 FGF23 KL PHEX SLC34A3 VDR
7 limbs/digits/tail MP:0005371 9.7 KL PHEX PTH VDR CYP27B1 DMP1
8 renal/urinary system MP:0005367 9.7 CLCN5 CYP27A1 CYP27B1 DMP1 ENPP1 FGF23
9 skeleton MP:0005390 9.47 CLCN5 CYP27A1 CYP27B1 CYP2R1 DMP1 ENPP1

Drugs & Therapeutics for Rickets

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

(show top 50) (show all 423)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 2 1994-09-7, 94-09-7 2337
2
Dinoprostone Approved Phase 4 363-24-6 5280360
3
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
4
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
5
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
6
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
7
Tenofovir Approved, Investigational Phase 4,Phase 3 147127-20-6 464205
8
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
9
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
10
Calcium carbonate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 471-34-1
11
Copper Approved Phase 4,Phase 3,Phase 2 15158-11-9, 7440-50-8 27099
12
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 11953898 5460373 44475014
13 Zinc sulfate Approved Phase 4,Phase 3 7733-02-0
14
Zoledronic acid Approved Phase 4 118072-93-8 68740
15
Pamidronate Approved Phase 4 40391-99-9 4674
16
Altretamine Approved Phase 4 645-05-6 2123
17
Ezetimibe Approved Phase 4 163222-33-1 150311
18
Selenium Approved, Vet_approved Phase 4,Phase 3 7782-49-2
19
Alendronate Approved Phase 4,Phase 3,Phase 2 121268-17-5, 66376-36-1 2088
20
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
21
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
22
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
23
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
24
Glycerol Approved, Experimental Phase 4 56-81-5 753
25
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-14-6 5280793
26
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 67-97-0 6221 10883523 5280795
27 tannic acid Approved, Nutraceutical Phase 4,Phase 2
28
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 11103-57-4, 68-26-8 445354
29
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Early Phase 1 32222-06-3 134070 5280453
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-02-9 14985
31
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Phase 2 50-81-7 5785 54670067
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
33
Alfacalcidol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Early Phase 1 41294-56-8 5282181
34
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 68-19-9 44176380
35
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
36
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 59-67-6 938
37
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 98-92-0 936
38
Pyridoxal Approved, Nutraceutical Phase 4,Phase 3,Phase 2 66-72-8 1050
39
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 65-23-6 1054
40
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 83-88-5 493570
41
Thiamine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-43-8 1130
42
Menadione Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-27-5 4055
43
Phytonadione Approved, Nutraceutical Phase 4,Phase 3,Phase 2 84-80-0 4812 5284607
44 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
45 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 vitamin d Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
49 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 868)
id Name Status NCT ID Phase
1 Vitamin D and Inflammatory Markers of Cardiovascular Disease in African Americans With Type 2 Diabetes Unknown status NCT01153243 Phase 4
2 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
3 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Unknown status NCT00288873 Phase 4
4 Optimizing Treatment Programs for Chronic Kidney Disease-mineral and Bone Disorder and Malnutrition Unknown status NCT02005302 Phase 4
5 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4
6 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
7 Vitamin D and Inflammatory Cytokine Levels After Acute Myocardial Infraction (MI) Unknown status NCT01115842 Phase 4
8 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4
9 The Effect of Vitamin D3 to Maintain Surgical Remission in Postoperative Crohn's Disease Unknown status NCT02010762 Phase 4
10 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension Unknown status NCT01472796 Phase 4
11 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4
12 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
13 Clinical Trial Technology Development for the Validation of Surrogate Prognostic Markers in Patients With Diabetic Nephropathy Unknown status NCT01673204 Phase 4
14 Value Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4
15 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
16 Nutrient Fortified Oat Drink Unknown status NCT01418898 Phase 4
17 Role of Calcium And Vitamin D In Nutritional Rickets And It's Management Completed NCT01578434 Phase 4
18 Vitamin D and Genetics in Nutritional Rickets Completed NCT00949832 Phase 4
19 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4
20 Effect of Three Different Doses of Oral Cholecalciferol on 25-Hydroxyvitamin D Changes Among Epilepsy Patients With Hypovitaminosis D Completed NCT02890823 Phase 4
21 A Study on Oral Vitamin D Megadoses Completed NCT01067898 Phase 4
22 Study Comparing Two Vitamin D Supplements for Infants: Liquid Versus D-Strips Completed NCT00846677 Phase 4
23 Vitamin D Supplementation for the Prevention of Cardiovascular Risk Completed NCT02020694 Phase 4
24 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
25 Vitamin Deficiency in Immigrants, a Treatment Study Completed NCT01419119 Phase 4
26 Zoledronic Acid to Prevent Bone Loss After Kidney Transplantation Completed NCT01675089 Phase 4
27 Osteopenia and Renal Osteodystrophy: Evaluation and Management Completed NCT00108394 Phase 4
28 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4
29 Treatment Study of Vitamin D Deficiency in Adolescents Completed NCT01784029 Phase 4
30 Influence of Vitamin D Treatment on Multi-systemic Functions in Young Men With Vitamin D Deficiency Due to Work Conditions Completed NCT01016184 Phase 4
31 Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients Completed NCT00958451 Phase 4
32 The Role of Vitamin D in the Pathophysiology of Chronic Failure Completed NCT01993537 Phase 4
33 Efficacy of Calcifediol Supplementation in Asthma Control in Asthmatic Patients With Vitamin D Deficiency (ACViD) Completed NCT02805907 Phase 4
34 Vitamin D, Chronic Kidney Disease (CKD) and the Microcirculation Completed NCT00882401 Phase 4
35 Effect of Oral Daily Supplementation With 400 IU Vs 200 IU of Vitamin D in Term Healthy Neonates Completed NCT02186028 Phase 4
36 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4
37 Vitamin D Supplementation of Lactating Mothers Completed NCT01506557 Phase 4
38 Immunologic Action of a Single Dose Cholecalciferol Completed NCT01845142 Phase 4
39 The Effect of Calcium and Vitamin D in Patients With Heart Failure Completed NCT00497900 Phase 4
40 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4
41 Vitamin D Supplementation in Patients With Diabetes Mellitus Type 2 Completed NCT01741181 Phase 4
42 How Much Vitamin D is Required to be Protective Against Deficiency During the Winter Months? Completed NCT01437696 Phase 4
43 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4
44 Multi-dose Vitamin D Supplementation in Preterm Infants Completed NCT02941185 Phase 4
45 Efficacy of Daily Vitamin D3 Supplementation in Normal Weight Adolescents Completed NCT01058720 Phase 4
46 Treatment of Vitamin D Insufficiency Completed NCT00933244 Phase 4
47 Vitamin D in Pregnancy and Lactation Completed NCT01112891 Phase 4
48 Effect of an Inhibitor of Cholesterol Absorption on Vitamin D Levels Completed NCT02234544 Phase 4
49 Oral Cholecalciferol in Prevention of Type 2 Diabetes Mellitus Completed NCT01436916 Phase 4
50 Vitamin D in Pediatric Crohn's Disease Completed NCT01187459 Phase 4

Search NIH Clinical Center for Rickets

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


Cochrane evidence based reviews: rickets

Genetic Tests for Rickets

Genetic tests related to Rickets:

id Genetic test Affiliating Genes
1 Rickets 29

Anatomical Context for Rickets

MalaCards organs/tissues related to Rickets:

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

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

18
Bone

Publications for Rickets

Articles related to Rickets:

(show top 50) (show all 905)
id Title Authors Year
1
Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. ( 27900779 )
2017
2
TowardsA Optimizing Calcium and Phosphate Concentration in Parenteral Nutrition for Premature Neonates to Minimize Rickets of Prematurity. ( 28054234 )
2017
3
Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets? ( 28077342 )
2017
4
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets. ( 28194480 )
2017
5
A pediatric hypophosphatemic rickets on MRI, (99m)Tc-MDP bone scan and (18)F-FDG PET/CT. ( 28315917 )
2017
6
Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets. ( 28430915 )
2017
7
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
8
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
9
Nutritional rickets around the world: an update. ( 27922335 )
2016
10
Vitamin D in health and disease: the global threat of vitamin D deficient rickets. ( 27008694 )
2016
11
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. ( 27840894 )
2016
12
Novel Compound Heterozygous Mutations in the CYP27B1 Gene Lead to Pseudovitamin D-Deficient Rickets. ( 27364341 )
2016
13
The effectiveness of cinacalcet as an adjunctive therapy for hereditary 1-25 dihydroxyvitamin -D3 resistant rickets. ( 27796266 )
2016
14
Signaling through the G-protein-coupled receptor Rickets is important for polarity, detachment, and migration of the border cells in Drosophila. ( 27130192 )
2016
15
Blount's disease: a rickets mimicker. ( 27177940 )
2016
16
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. ( 26824597 )
2016
17
[FGF23 related hypophosphatemic rickets:current therapy and unresolved issues]. ( 26813507 )
2016
18
The aetiology of rickets-like lower limb deformities in Malawian children. ( 27059923 )
2016
19
A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene. ( 27287609 )
2016
20
Prevalence of skeletal deformity due to nutritional rickets in children between 1 and 18 years in tea garden community. ( 27182144 )
2016
21
Effect of intramuscular cholecalciferol megadose in children with nutritional rickets. ( 26913455 )
2016
22
CYP2R1 mutations causing vitamin D-deficiency rickets. ( 27473561 )
2016
23
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. ( 27399352 )
2016
24
Digital Paper Prints as Replacement for LASER Films: A Study of Intra-Observer Agreement for Wrist Radiographic Findings in Rickets. ( 27656525 )
2016
25
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. ( 26820766 )
2016
26
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. ( 27242547 )
2016
27
Fibroblast growth factor-23 and renin-angiotensin system levels in vitamin-D-dependent rickets type I. ( 26939683 )
2016
28
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A. ( 27777911 )
2016
29
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets. ( 28013309 )
2016
30
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. ( 26741135 )
2016
31
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. ( 26745253 )
2016
32
Hypophosphatemic Rickets in Siblings: A Rare Case Report. ( 27340574 )
2016
33
Case report of an infant with severe vitamin D deficiency rickets manifested as hypocalcemic seizures. ( 27276866 )
2016
34
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor. ( 27864003 )
2016
35
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 )
2016
36
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. ( 27799484 )
2016
37
Ultra-early onset of ossification of the posterior longitudinal ligament with congenital rickets. ( 27629093 )
2016
38
Neonatal transient hypophosphatemic hypercalciuric rickets in dizygous twins: A role for maternal alendronate therapy before pregnancy or antireflux medications? ( 27150561 )
2016
39
Mucopolysaccharidosis type I disguised as rickets. ( 27170613 )
2016
40
"English Disease": Historical Notes on Rickets, the Bone-Lung Link and Child Neglect Issues. ( 27854286 )
2016
41
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. ( 27771603 )
2016
42
Rickets and osteomalacia: a call for action to protect immigrants and ethnic risk groups. ( 27013305 )
2016
43
Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children. ( 27710917 )
2016
44
Fibroblast Growth Factor 23 and Hypophosphatemia: A Case of Hypophosphatemia along the Rickets-Osteomalacia Spectrum. ( 27994603 )
2016
45
Extensive ossification of the paraspinal ligaments in a patient with vitamin D-resistant rickets: Case report with literature review. ( 27611796 )
2016
46
Nutritional rickets: vitamin D, calcium, and the genetic make-up. ( 27973470 )
2016
47
Hypophosphatemic Rickets and Pre-eruptive Spontaneous Dental Abscess. ( 27098722 )
2016
48
Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets. ( 27408766 )
2016
49
Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy. ( 27754732 )
2016
50
The Return of Congenital Rickets, Are We Missing Occult Cases? ( 27245342 )
2016

Variations for Rickets

ClinVar genetic disease variations for Rickets:

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

Expression for Rickets

Search GEO for disease gene expression data for Rickets.

GO Terms for Rickets

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 BGLAP ENPP1 FGF23 GC KL PTH
2 vesicle GO:0031982 8.8 BGLAP SLC34A1 SLC34A3

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.83 BGLAP PHEX PTH VDR
2 ossification GO:0001503 9.77 BGLAP DMP1 SLC34A1
3 biomineral tissue development GO:0031214 9.67 BGLAP DMP1 ENPP1 PHEX
4 response to cadmium ion GO:0046686 9.64 PTH SLC34A1
5 calcium ion homeostasis GO:0055074 9.64 CYP27B1 KL
6 decidualization GO:0046697 9.63 CYP27B1 VDR
7 phosphate-containing compound metabolic process GO:0006796 9.63 ENPP1 FGF23
8 bone mineralization GO:0030282 9.63 BGLAP CYP27B1 PHEX
9 phosphate ion transmembrane transport GO:0035435 9.62 SLC34A1 SLC34A3
10 response to lead ion GO:0010288 9.62 PTH SLC34A1
11 positive regulation of keratinocyte differentiation GO:0045618 9.61 CYP27B1 VDR
12 response to magnesium ion GO:0032026 9.61 FGF23 SLC34A1
13 cellular response to vitamin D GO:0071305 9.61 BGLAP FGF23 PHEX
14 response to growth hormone GO:0060416 9.6 PHEX SLC34A1
15 phosphate ion transport GO:0006817 9.58 SLC34A1 SLC34A3
16 vitamin metabolic process GO:0006766 9.58 CYP27B1 CYP2R1
17 cellular response to parathyroid hormone stimulus GO:0071374 9.58 FGF23 PHEX SLC34A1
18 sodium-dependent phosphate transport GO:0044341 9.57 SLC34A1 SLC34A3
19 response to parathyroid hormone GO:0071107 9.56 PTH SLC34A1
20 response to vitamin D GO:0033280 9.56 BGLAP CYP27B1 PHEX PTH
21 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.55 FGF23 KL
22 phosphate ion homeostasis GO:0055062 9.54 FGF23 SLC34A1
23 vitamin D catabolic process GO:0042369 9.51 CYP27B1 FGF23
24 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.5 CYP27B1 FGF23 VDR
25 response to sodium phosphate GO:1904383 9.49 FGF23 PHEX
26 calcitriol biosynthetic process from calciol GO:0036378 9.48 CYP27B1 CYP2R1
27 regulation of bone mineralization GO:0030500 9.46 BGLAP CYP27B1 ENPP1 FGF23
28 vitamin D metabolic process GO:0042359 9.26 CYP27B1 CYP2R1 FGF23 GC
29 cellular phosphate ion homeostasis GO:0030643 8.92 ENPP1 FGF23 SLC34A1 SLC34A3

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.54 CYP27A1 CYP27B1 CYP2R1
2 heme binding GO:0020037 9.5 CYP27A1 CYP27B1 CYP2R1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP27A1 CYP27B1 CYP2R1
4 fibroblast growth factor receptor binding GO:0005104 9.4 FGF23 KL
5 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
6 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.96 SLC34A1 SLC34A3
7 vitamin D binding GO:0005499 8.62 GC KL

Sources for Rickets

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