VDDR
MCID: RCK004
MIFTS: 67

Rickets (VDDR) malady

Genetic diseases, Rare diseases, Metabolic diseases, Bone diseases categories

Summaries for Rickets

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MedlinePlus:33 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 based summary: Rickets, also known as vitamin d-dependent rickets, is related to hypophosphatemic rickets with hypercalciuria and vitamin d-dependent rickets type ii. 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 calcifediol anhydrous and cod liver oil 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:9 A bone remodeling disease that has material basis in a vitamin d deficiency in children which results in softening and deformity located in bone.

Genetics Home Reference:22 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:42 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:64 Rickets is defective mineralization of bones before epiphyseal closure in immature mammals due to... more...

Descriptions from OMIM:46 277440,600081,600785,264700

Aliases & Classifications for Rickets

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Rickets, Aliases & Descriptions:

Name: Rickets 9 42 11 44 33 61
Vitamin D-Dependent Rickets 9 22 61
Vitamin D Deficiency Disease 42 61
Vitamin D Deficiency 44 61
Hypovitaminosis D 42 61
Vddr 22 61
 
Vitamin D Hydroxylation-Deficient Rickets 9
Vitamin-D Deficiency Rickets 42
Nutritional Rickets 42
Active Rickets 9
Vitamin D 33


Classifications:

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


External Ids:

Disease Ontology9 DOID:10609
ICD9CM28 268
NCIt39 C26878
MeSH34 D012279
ICD1026 E55, E55.0

Related Diseases for Rickets

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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 653)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets with hypercalciuria31.4SLC34A3
2vitamin d-dependent rickets type ii31.4CYP27B1, VDR
3hypophosphatemic rickets, autosomal dominant31.1FGF23, PHEX
4rickets, vitamin d-resistant, type iia31.0CYP27B1, VDR
5graves' disease30.7FGF23, CYP27B1, VDR
6nephrocalcinosis30.6PHEX, SLC34A3, SLC34A1
7renal osteodystrophy30.6FGF23, VDR
8hyperparathyroidism30.5FGF23, PHEX, CYP27B1, VDR
9hypercalcemia30.5VDR, CYP27B1, FGF23
10williams syndrome30.5VDR, CYP27B1
11osteosarcoma30.4ENPP1, CYP27B1, VDR
12dentinogenesis imperfecta30.4DMP1
13calcinosis30.4ENPP1, FGF23
14paraneoplastic syndromes30.3FGF23, PHEX
15nephrolithiasis30.3VDR, SLC34A1
16hypervitaminosis d30.3CYP27B1, FGF23
17hypophosphatasia30.3ENPP1
18hyperphosphatemia30.2FGF23, SLC34A1, VDR
19diabetes mellitus30.1VDR, CYP27B1, ENPP1
20osteomalacia30.1FGF23, SLC34A3, PHEX, CYP27B1, DMP1, VDR
21primary hyperparathyroidism30.1VDR, CYP27B1, FGF23
22type 1 diabetes mellitus30.0ENPP1, CYP27B1, VDR
23secondary syphilis29.9VDR, CYP27B1, PHEX, FGF23
24osteoporosis29.9VDR, CYP27B1, FGF23
25basal cell carcinoma29.9VDR, CYP27B1
26x-linked hypophosphatemia29.8FGF23, SLC34A1, SLC34A3, PHEX, CYP27B1, DMP1
27uremia29.6ENPP1, VDR
28chronic kidney failure29.6VDR, CYP27B1, ENPP1, PHEX, FGF23
29hypophosphatemia29.5DMP1, VDR, CYP27B1, PHEX, SLC34A3, SLC34A1
30prostatitis11.1
31prostate cancer11.0
32colorectal cancer10.8
33colon cancer10.8
34psoriasis10.7
35melanoma10.7
36leukemia10.7
37ovarian cancer10.6
38pulmonary tuberculosis10.6
39colorectal adenoma10.6
40inflammatory bowel disease10.6
41hereditary hypophosphatemic rickets10.6
42vitamin d-dependent rickets type i10.5
43kidney disease10.5
44endometriosis10.5
45lung cancer10.5
46crohn's disease10.5
47adenocarcinoma10.5
48sarcoidosis10.5
49hereditary hypophosphatemic rickets with hypercalciuria10.5
50hepatitis10.5

Graphical network of the top 20 diseases related to Rickets:



Diseases related to rickets

Symptoms for Rickets

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Clinical features from OMIM:

277440,600081,600785,264700

Drugs & Therapeutics for Rickets

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Drug clinical trials:

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Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Rickets

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Anatomical Context for Rickets

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MalaCards organs/tissues related to Rickets:

32
Bone, Skin, Testes, Liver, Breast, Kidney, Heart, Spinal cord

FMA organs/tissues related to Rickets:

15
Bone

Animal Models for Rickets or affiliated genes

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Publications for Rickets

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Articles related to Rickets:

(show top 50)    (show all 770)
idTitleAuthorsYear
1
A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses. (25201466)
2014
2
Afebrile seizures and electrocardiography abnormality: an unusual presentation of nutritional rickets. (25187195)
2014
3
Cervical spinal cord compression caused by X-linked hypophosphatemic rickets with a novel PHEX mutation. (25237965)
2014
4
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
5
Ideology and disease identity: the politics of rickets, 1929-1982. (23918817)
2013
6
Rickets in the tropics: not always nutritional. (24014326)
2013
7
Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets. (23212715)
2013
8
An unusual cause of severe rickets: Answers. (23780470)
2013
9
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. (22443290)
2012
10
High incidence of rickets in extremely low birth weight infants with severe parenteral nutrition-associated cholestasis and bronchopulmonary dysplasia. (23255857)
2012
11
The decade of ideas leading to a cure for rickets. (22137665)
2012
12
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)
2011
13
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
14
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. (19049339)
2009
15
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. (19309785)
2009
16
Early adolescent nutritional rickets. (20065377)
2009
17
Doing the month: rickets and post-partum convalescence in rural China. (18276049)
2009
18
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
19
Rickets in the Middle East: role of environment and genetic predisposition. (18285415)
2008
20
What's new in hypophosphataemic rickets? (18214537)
2008
21
Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets. (18365588)
2008
22
Bilateral femoral insufficiency fractures presenting as knee pain in a patient with hypophosphatemic vitamin D-resistant rickets. (18716696)
2008
23
Rickets of prematurity- a case report. (19169349)
2008
24
Rickets with Dorfman-Chanarin syndrome. (17095855)
2007
25
Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. (17551721)
2007
26
Dilated cardiomyopathy and adipic aciduria in nutritional rickets. (16628102)
2006
27
Hereditary hypophosphatemic rickets with hypercalciuria. (16798045)
2006
28
Association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets]. (16613705)
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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Expression patterns in normal tissues for genes affiliated with Rickets

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Pathways for genes affiliated with Rickets

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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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Compounds related to Rickets according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1Calcidiol25 1210.9VDR, CYP27B1
2gemini449.9VDR, CYP27B1
3calcifediol609.9VDR, CYP27B1
4Ergocalciferol25 1210.9CYP27B1, VDR
5Vitamin D3259.8VDR, CYP27B1
6alfacalcidol44 60 1211.8CYP27B1, VDR
724,25-dihydroxyvitamin d3449.8CYP27B1, VDR
8paricalcitol44 1210.7CYP27B1, VDR
9calcipotriol44 60 29 1212.6VDR, CYP27B1
1025-hydroxyvitamin d449.5VDR, CYP27B1, FGF23
11eb 108944 6010.4CYP27B1, VDR
12glutamine448.8FGF23, ENPP1, VDR
13hydroxyapatite448.8FGF23, ENPP1, DMP1
14phosphorus448.7FGF23, SLC34A1, PHEX, CYP27B1, VDR
151,25 dihydroxy vitamin d3448.7VDR, CYP27B1, PHEX, SLC34A1, FGF23
16calcitriol44 60 25 1211.6VDR, CYP27B1, PHEX, SLC34A1, FGF23
17vitamin d448.1VDR, DMP1, CYP27B1, PHEX, SLC34A1, FGF23
18calcium44 50 25 129.7VDR, DMP1, CYP27B1, ENPP1, PHEX, SLC34A3

GO Terms for genes affiliated with Rickets

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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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26ICD10
27ICD10 via Orphanet
28ICD9CM
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30KEGG
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62UMLS via Orphanet