MCID: RCK004
MIFTS: 64

Rickets malady

Genetic diseases, Rare diseases, Bone diseases categories
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Summaries for Rickets

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8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 65Wikipedia, 33MalaCards
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MedlinePlus:34 Rickets causes soft, weak bones in children. it usually occurs when they do not get enough vitamin d, which helps growing bones absorb the minerals calcium and phosphorous. it can also happen when calcium or phosphorus levels are too low. your child might not get enough vitamin d if he or she has dark skin spends too little time outside has on sunscreen all the time when out of doors doesn't eat foods containing vitamin d because of lactose intolerance or a strict vegetarian diet is breastfed without receiving vitamin d supplements can't make or use vitamin d because of a medical disorder such as celiac disease in addition to dietary rickets, children can get an inherited form of the disease. symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. your child's doctor uses lab and imaging tests to make the diagnosis. treatment is replacing the calcium, phosphorus, or vitamin d that are lacking in the diet. rickets is rare in the united states.

MalaCards: Rickets, also known as vitamin d-dependent rickets, is related to vitamin d-dependent rickets type ii and colon cancer. An important gene associated with Rickets is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis and Nuclear receptors in lipid metabolism and toxicity. The drugs cod liver oil and calcitriol and the compounds Calcidiol and gemini have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and skin, and related mouse phenotypes are digestive/alimentary and reproductive system.

Disease Ontology:8 A bone remodeling disease that has material basis in a vitamin d deficiency in children which results in softening and deformity located in bone.

NIH Rare Diseases:43 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:65 Rickets is defective mineralization of bones before epiphyseal closure in immature mammals due to... more...

Aliases & Classifications for Rickets

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 34MedlinePlus, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

rickets 8 43 10 45 34 62
vitamin d-dependent rickets 8 62
vitamin d deficiency 45 62
vitamin d deficiency disease 43
vitamin-d deficiency rickets 43
nutritional rickets 43
hypovitaminosis d 43
rickets, active 8
active rickets 8
vitamin d 34


External Ids:

Disease Ontology8 DOID:10609
MeSH35 D012279
NCIt40 C26878
ICD1025 E55, E55.0

Related Diseases for Rickets

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 633)
idRelated DiseaseScoreTop Affiliating Genes
1vitamin d-dependent rickets type ii31.0CYP27B1, VDR
2colon cancer31.0CYP27B1, DMP1, VDR
3hypophosphatemic rickets with hypercalciuria30.9SLC34A3
4hypophosphatemic rickets, autosomal dominant30.7FGF23, PHEX
5osteomalacia30.7FGF23, SLC34A3, PHEX, CYP27B1, DMP1, VDR
6rickets, vitamin d-resistant, type iia30.7CYP27B1, VDR
7osteosarcoma30.6ENPP1, CYP27B1, VDR
8x-linked hypophosphatemia30.6FGF23, SLC34A1, SLC34A3, PHEX, CYP27B1, DMP1
9graves' disease30.6FGF23, CYP27B1, VDR
10nephrocalcinosis30.5PHEX, SLC34A3, SLC34A1
11hyperparathyroidism30.5FGF23, PHEX, CYP27B1, VDR
12hypercalcemia30.4VDR, CYP27B1, FGF23
13calcinosis30.4ENPP1, FGF23
14renal osteodystrophy30.3FGF23, VDR
15hypophosphatemia30.3DMP1, VDR, CYP27B1, PHEX, SLC34A3, SLC34A1
16diabetes mellitus30.3VDR, CYP27B1, ENPP1
17williams syndrome30.3VDR, CYP27B1
18hyperphosphatemia30.2FGF23, SLC34A1, VDR
19type 1 diabetes mellitus30.1ENPP1, CYP27B1, VDR
20dentinogenesis imperfecta30.1DMP1
21paraneoplastic syndromes30.0FGF23, PHEX
22chronic kidney failure30.0VDR, CYP27B1, ENPP1, PHEX, FGF23
23hypervitaminosis d30.0CYP27B1, FGF23
24hypophosphatasia30.0ENPP1
25nephrolithiasis30.0VDR, SLC34A3, SLC34A1, FGF23
26primary hyperparathyroidism30.0VDR, CYP27B1, FGF23
27secondary syphilis29.9VDR, CYP27B1, PHEX, FGF23
28osteoporosis29.7VDR, CYP27B1, FGF23
29basal cell carcinoma29.7VDR, CYP27B1
30uremia29.7ENPP1, VDR
31prostatitis11.0
32prostate cancer11.0
33colorectal cancer10.8
34melanoma10.7
35leukemia10.7
36psoriasis10.7
37pulmonary tuberculosis10.6
38colorectal adenoma10.6
39inflammatory bowel disease10.6
40ovarian cancer10.6
41hereditary hypophosphatemic rickets10.5
42kidney disease10.5
43endometriosis10.5
44lung cancer10.5
45sarcoidosis10.5
46hepatitis10.5
47hereditary hypophosphatemic rickets with hypercalciuria10.5
48crohn's disease10.4
49adenocarcinoma10.4
50vitamin d-dependent rickets type i10.4

Graphical network of the top 20 diseases related to Rickets:



Diseases related to rickets

Symptoms for Rickets

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Drugs & Therapeutics for Rickets

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Rickets

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Anatomical Context for Rickets

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33MalaCards, 14FMA
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MalaCards organs/tissues related to Rickets:

33
Bone, Skin, Testes, Liver, Breast, Kidney, Heart

FMA organs/tissues related to Rickets:

14
Bone

Animal Models for Rickets or affiliated genes

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37MGI
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Publications for Rickets

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52PubMed
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Articles related to Rickets:

(show top 50)    (show all 749)
idTitleAuthorsYear
1
A Randomized Controlled Trial on Safety and Efficacy of Single Intramuscular versus Staggered Oral Dose of 600 000IU Vitamin D in Treatment of Nutritional Rickets. (24401754)
2014
2
Ideology and disease identity: the politics of rickets, 1929-1982. (23918817)
2013
3
Rickets in the tropics: not always nutritional. (24014326)
2013
4
Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets. (23212715)
2013
5
An unusual cause of severe rickets: Answers. (23780470)
2013
6
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. (22443290)
2012
7
High incidence of rickets in extremely low birth weight infants with severe parenteral nutrition-associated cholestasis and bronchopulmonary dysplasia. (23255857)
2012
8
The decade of ideas leading to a cure for rickets. (22137665)
2012
9
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)
2011
10
Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. (21994957)
2011
11
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. (19921089)
2010
12
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. (19049339)
2009
13
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. (19309785)
2009
14
Early adolescent nutritional rickets. (20065377)
2009
15
Doing the month: rickets and post-partum convalescence in rural China. (18276049)
2009
16
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
17
Rickets in the Middle East: role of environment and genetic predisposition. (18285415)
2008
18
What's new in hypophosphataemic rickets? (18214537)
2008
19
Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets. (18365588)
2008
20
Bilateral femoral insufficiency fractures presenting as knee pain in a patient with hypophosphatemic vitamin D-resistant rickets. (18716696)
2008
21
Rickets of prematurity- a case report. (19169349)
2008
22
Rickets with Dorfman-Chanarin syndrome. (17095855)
2007
23
Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. (17551721)
2007
24
The relationship of hypocalcemic convulsions related to nutritional rickets with age, gender, season, and serum phosphorus levels. (21857550)
2007
25
Dilated cardiomyopathy and adipic aciduria in nutritional rickets. (16628102)
2006
26
Hereditary hypophosphatemic rickets with hypercalciuria. (16798045)
2006
27
Association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets]. (16613705)
2006
28
Rickets and the Fairfax family receipt books. (16893938)
2006
29
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study. (15781675)
2005
30
Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets]. (16083553)
2005
31
Vitamin D-dependent rickets type II in a cat. (16167595)
2005
32
Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets. (15818436)
2005
33
Enhanced coactivator binding and transcriptional activation of mutant vitamin D receptors from patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets by phosphorylation and vitamin D analogs. (16059639)
2005
34
Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature. (12956677)
2003
35
Vitamin D deficiency rickets and osteomalacia in Israel. (14509137)
2003
36
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (12414538)
2002
37
First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets. (12480016)
2002
38
Fibroblast growth factor (FGF)-23 and hypophosphatemic rickets/osteomalacia. (11873859)
2001
39
FGF23, hypophosphatemia, and rickets: has phosphatonin been found? (11371627)
2001
40
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. (11181798)
2001
41
Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. (9275211)
1997
42
Plasma osteocalcin in healthy Nigerian children and in children with calcium-deficiency rickets. (8939765)
1996
43
Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping. (8796143)
1996
44
Pathophysiology of calcium metabolism in children with vitamin D-deficiency rickets. (7751997)
1995
45
Hypophosphatemic vitamin D-resistant rickets and multiple spindle and epithelioid nevi associated with linear nevus sebaceus syndrome. (8391030)
1993
46
Transient hyperthyroxinemia associated with rickets. (3418738)
1988
47
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. (3024987)
1986
48
Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts. (3872316)
1985
49
Aminoaciduria in various types of rickets. A study by the high voltage electrophoretic technique. (13781573)
1960
50
Clinico-pathological conference: hypoplasia of the kidneys secondary to chronic pyelonephritis; acute bronchitis; myocardial hypertrophy; fatty metamorphosis of the liver; rickets. (14870327)
1951

Variations for Rickets

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Expression for genes affiliated with Rickets

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rickets

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Pathways for genes affiliated with Rickets

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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database
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Pathways related to Rickets according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CYP27B1, VDR
29.7CYP27B1, VDR
39.7CYP27B1, VDR

Compounds for genes affiliated with Rickets

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24HMDB, 11DrugBank, 45Novoseek, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB
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Compounds related to Rickets according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1Calcidiol24 1110.9VDR, CYP27B1
2gemini459.9VDR, CYP27B1
3calcifediol619.9VDR, CYP27B1
4Ergocalciferol24 1110.9CYP27B1, VDR
5Vitamin D3249.8VDR, CYP27B1
6alfacalcidol45 61 1111.8CYP27B1, VDR
724,25-dihydroxyvitamin d3459.8CYP27B1, VDR
8paricalcitol45 1110.7CYP27B1, VDR
9calcipotriol45 61 29 1112.6VDR, CYP27B1
1025-hydroxyvitamin d459.5VDR, CYP27B1, FGF23
11eb 108945 6110.4CYP27B1, VDR
12glutamine458.8FGF23, ENPP1, VDR
13hydroxyapatite458.8FGF23, ENPP1, DMP1
14phosphorus458.7FGF23, SLC34A1, PHEX, CYP27B1, VDR
151,25 dihydroxy vitamin d3458.7VDR, CYP27B1, PHEX, SLC34A1, FGF23
16calcitriol45 61 24 1111.6VDR, CYP27B1, PHEX, SLC34A1, FGF23
17vitamin d458.1VDR, DMP1, CYP27B1, PHEX, SLC34A1, FGF23
18calcium45 51 24 119.7VDR, DMP1, CYP27B1, ENPP1, PHEX, SLC34A3

GO Terms for genes affiliated with Rickets

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16Gene Ontology
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Biological processes related to Rickets according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of keratinocyte differentiationGO:04561810.0CYP27B1, VDR
2vitamin D catabolic processGO:0423699.9FGF23, CYP27B1
3decidualizationGO:0466979.9VDR, CYP27B1
4bone mineralizationGO:0302829.9CYP27B1, PHEX
5phosphate ion homeostasisGO:0550629.8SLC34A1, FGF23
6skeletal system developmentGO:0015019.7PHEX, VDR
7phosphate ion transportGO:0068179.7SLC34A1, SLC34A3
8calcium ion transportGO:0068169.7CYP27B1, VDR
9positive regulation of vitamin D 24-hydroxylase activityGO:0109809.6FGF23, CYP27B1, VDR
10sodium ion transportGO:0068149.5SLC34A1, SLC34A3
11regulation of bone mineralizationGO:0305009.5ENPP1, CYP27B1
12phosphate-containing compound metabolic processGO:0067969.4FGF23, ENPP1
13ossificationGO:0015039.4DMP1, SLC34A1
14bone remodelingGO:0468499.4ENPP1, SLC34A1
15biomineral tissue developmentGO:0312149.2ENPP1, DMP1
16vitamin metabolic processGO:0067669.2ENPP1, CYP27B1
17cellular phosphate ion homeostasisGO:0306439.0FGF23, SLC34A3, ENPP1
18negative regulation of cell growthGO:0303089.0ENPP1, CYP27B1

Molecular functions related to Rickets according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:0153219.4SLC34A1, SLC34A3

Products for genes affiliated with Rickets

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Sources for Rickets

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet