MCID: RCK004
MIFTS: 65

Rickets malady

Metabolic category

Summaries for Rickets

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 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 osteomalacia and x-linked hypophosphatemia. An important gene associated with Rickets is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Type II Na+/Pi cotransporters and Osteoblast Signaling. The drugs cod liver oil and calcitriol and the compounds Calcidiol and calcitroic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skeletal muscle, and related mouse phenotypes are limbs/digits/tail and craniofacial.

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:64 Rickets is a softening of bones in immature mammals due to deficiency or impaired metabolism of vitamin... more...

Aliases & Classifications for Rickets

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

rickets 8 43 10 45 34 61
vitamin d-dependent rickets 8 61
vitamin d deficiency 45 61
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

Sources:
17GeneCards, 18GeneDecks
See all sources

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 564)
idRelated DiseaseScoreTop Affiliating Genes
1osteomalacia30.9PHEX, SFRP4, BGLAP, DMP1, MEPE, VDR
2x-linked hypophosphatemia30.8FGF23, CYP27B1, MEPE, VDR, DSPP, SFRP4
3hypophosphatemic rickets, autosomal dominant30.8SFRP4, FGF23, PHEX, MEPE
4graves' disease30.6BGLAP, FGF23, VDR, CYP27B1
5hypophosphatemia30.5VDR, DSPP, MEPE, DMP1, PHEX, SFRP4
6rickets, vitamin d-resistant, type iia30.5VDR, CYP27B1
7hypoparathyroidism30.5BGLAP, FGF23, PTH
8atherosclerosis30.5FGF23, ENPP1, CYP27A1
9nephrocalcinosis30.5PHEX, SLC34A3, CLCN5, SLC34A1
10hypercalcemia30.3VDR, BGLAP, PTH, CYP27B1, FGF23
11short stature30.3DSPP, BGLAP
12asthma30.3CYP24A1, VDR
13osteoarthritis30.3ENPP1, BGLAP, VDR, DSPP
14type 1 diabetes30.3BGLAP, CYP27B1, VDR, ENPP1
15vitamin d-dependent rickets type ii30.2VDR, CYP27B1
16renal osteodystrophy30.2BGLAP, FGF23, PTH, VDR
17aminoaciduria30.2CLCN5
18hyperphosphatemia30.1PTH, SLC34A1, FGF23, VDR, SFRP4
19osteoporosis, postmenopausal30.1PTH, CYP27B1, VDR, BGLAP
20hypervitaminosis d30.1FGF23, CYP27B1
21hypophosphatemic rickets with hypercalciuria30.1SLC34A3
22mccune albright syndrome30.1FGF23
23nephrolithiasis30.0PTH, SLC34A3, CLCN5, VDR, SLC34A1, FGF23
24paraneoplastic syndromes29.9PHEX, FGF23
25dentinogenesis imperfecta29.9MEPE, DMP1, DSPP
26secondary syphilis29.9BGLAP, PHEX, VDR, CYP27B1, FGF23, PTH
27primary hyperparathyroidism29.9FGF23, CYP27B1, VDR, BGLAP, PTH
28osteitis fibrosa29.9BGLAP, PTH
29hypophosphatasia29.9DSPP, ENPP1
30uremia29.6PTH, VDR, ENPP1
31cerebrotendinous xanthomatosis29.6CYP27A1, FDX1
32osteoporosis29.6FGF23, CYP27B1, CYP24A1, VDR, MEPE, PTH
33basal cell carcinoma29.6CYP27B1, CYP24A1, VDR
34growth hormone deficiency29.6BGLAP
35colorectal cancer10.8
36pulmonary tuberculosis10.6
37hereditary hypophosphatemic rickets10.5
38vitamin d-dependent rickets type i10.5
39n syndrome10.4
40adenocarcinoma10.4
41squamous cell carcinoma10.4
42t-cell leukemia10.4
43hepatitis c10.4
44hepatitis d10.4
45sickle cell disease10.4
46insulin resistance10.4
47crohn's disease10.4
48vitiligo10.3
49fanconi syndrome10.3
50alopecia10.3

Graphical network of the top 20 diseases related to Rickets:



Diseases related to rickets

Clinical Features for Rickets

Drugs & Therapeutics for Rickets

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rickets

Drug clinical trials:

Search ClinicalTrials for Rickets

Search NIH Clinical Center for Rickets

Search CenterWatch for Rickets

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Rickets

Anatomical Context for Rickets

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Rickets:

33
Heart, Skeletal muscle, Kidney, Liver, Breast, Skin, Monocytes, T cells, B cells, Fetal liver

FMA organs/tissues related to Rickets:

14
Bone

Animal Models for Rickets or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Rickets

Sources:
51PubMed
See all sources

Articles related to Rickets:

(show top 50)    (show all 755)
idTitleAuthorsYear
1
Rickets. (24412049)
2014
2
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. (24176905)
2014
3
Hypophosphatemic rickets associated with giant hairy nevus. (24251154)
2013
4
Renal rickets-practical approach. (24251212)
2013
5
X-linked hypophosphatemic rickets. (23848049)
2013
6
Hip fracture leading to the diagnosis of autosomal dominant hypophosphatemic rickets. A case report. (23989261)
2013
7
Response to Ayoub: letter to the editor; limitations of radiology in rickets. (23855731)
2013
8
Mutational analysis of patients with FGF23-related hypophosphatemic rickets. (22577109)
2012
9
Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. (22615579)
2012
10
New thoughts concerning the epidemic of rickets: was the role of alum overlooked? (21928131)
2012
11
Vitamin D and the immune system: beyond rickets. (22750284)
2012
12
Vitamin D action: lessons learned from hereditary 1,25-dihydroxyvitamin-D-resistant rickets patients. (23128575)
2012
13
Novel vitamin D 1I+-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient. (21869486)
2011
14
Tertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets. (21885902)
2011
15
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. (21880793)
2011
16
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
17
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (20137773)
2010
18
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism. (21274319)
2010
19
Nutritional rickets. (21274312)
2010
20
Alopecia in vitamin D-dependent rickets type II responding to 1I+-hydroxycholecalciferol. (21118628)
2010
21
Physiopathology of dental rickets in vitamin D receptor-ablated mice. (20929724)
2010
22
Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. (19309785)
2009
23
Vitamin D deficiency rickets and allegations of non-accidental injury. (19572990)
2009
24
The use of pre-operative imaging and intraoperative parathyroid hormone level to guide surgical management of tertiary hyperparathyroidism from X-linked hypophosphatemic rickets: a case report. (19918472)
2009
25
The effect of vitamin D treatment on serum adiponectin levels in children with vitamin D deficiency rickets. (21274306)
2009
26
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
27
Vitamin D and rickets beyond America. (19047550)
2008
28
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. (18429807)
2008
29
Rickets with Dorfman-Chanarin syndrome. (17095855)
2007
30
Case-control study of breast milk calcium in mothers of children with and without nutritional rickets. (16801179)
2006
31
Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. (16303832)
2006
32
Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay? (16412249)
2006
33
Nutritional rickets: beyond the chief complaint. (16481931)
2006
34
Rickets: not a disease of the past. (16939184)
2006
35
Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. (15679074)
2005
36
Evaluation of stature development during childhood and adolescence in individuals with familial hypophosphatemic rickets. (16244755)
2005
37
Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases]. (15935629)
2005
38
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. (15972816)
2005
39
Calcium deficiency and causation of rickets in Ethiopian children. (16122079)
2005
40
Rickets in xeroderma pigmentosum. (16398980)
2005
41
FGF23, hypophosphatemia, and rickets: has phosphatonin been found? (11371627)
2001
42
A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets. (11386849)
2001
43
Familial hypophosphatemic rickets]. (11778363)
2001
44
A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3). (11369766)
2001
45
The PEX gene: not a simple answer for X-linked hypophosphataemic rickets and oncogenic osteomalacia. (9324040)
1997
46
Nephrocalcinosis and its relationship to treatment of hereditary rickets. (2822887)
1987
47
Father to son transmission in metaphyseal chondrodysplasia mimicking vitamin D resistant rickets. (6298812)
1982
48
Vitamin D-dependent rickets type II. (6770981)
1980
49
Structure of the osteocyte capsule in rats with hypervitaminosis-D and rickets. (1234824)
1975
50
Aminoaciduria in vitamin D deficiency states in premature infants and older infants with rickets. (13879029)
1962

Genetic Variations for Rickets

Expression for genes affiliated with Rickets

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Rickets

Search GEO for disease gene expression data for Rickets.

Pathways for genes affiliated with Rickets

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
See all sources

Pathways related to Rickets according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4SLC34A3, SLC34A1
210.4PTH, FGF23
310.4CYP27B1, CYP24A1, VDR
4
Hide members
10.4CYP24A1, CYP27B1, CYP2R1
5
Hide members
10.4CYP2R1, CYP27B1, CYP24A1
6
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.4BGLAP, VDR, PTH
7
Hide members
10.3CYP24A1, CYP27B1, CYP27A1, CYP2R1
8
Hide members
10.3CYP24A1, CYP27B1, CYP27A1, CYP2R1
9
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.3BGLAP, VDR, CYP24A1, CYP27B1, PTH
10
Vitamin D2 (ergocalciferol) metabolism
Hide members
10.3PTH, CYP2R1, CYP27A1, CYP27B1, CYP24A1, VDR
11
Hide members
10.2FDX1, CYP24A1, CYP27B1, CYP27A1, CYP2R1, GALNT8

Compounds for genes affiliated with Rickets

Sources:
11DrugBank, 24HMDB, 45Novoseek, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Rickets according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1Calcidiol11 2411.8VDR, CYP24A1, CYP27B1
2calcitroic acid4510.8CYP24A1, VDR
3calcifediol6010.8VDR, CYP27B1
4calcium carbonate4510.8PTH, BGLAP
5doxercalciferol4510.8VDR, CYP27A1, PTH
624(r),25-dihydroxyvitamin d34510.8VDR, BGLAP
7gemini4510.8VDR, CYP27B1
8paricalcitol45 1111.8VDR, CYP24A1, CYP27B1, PTH
91,25(oh)2-16-ene-23-yne-d34510.8BGLAP, VDR
107-dehydrocholesterol45 2411.7CYP27A1, CYP24A1, VDR
1124,25-dihydroxyvitamin d34510.7BGLAP, VDR, CYP24A1, CYP27B1
12Cholecalciferol1110.7VDR, CYP27A1, CYP2R1
13sevelamer4510.7FGF23, BGLAP
14calcipotriol45 60 29 1113.7BGLAP, VDR, CYP24A1, CYP27B1
15Corticotropin1110.7CYP27B1, CYP24A1
16Ergocalciferol11 2411.7VDR, CYP24A1, CYP27B1, CYP27A1, CYP2R1
17deoxypyridinoline4510.7BGLAP, VDR, PTH
18alfacalcidol45 60 1112.7BGLAP, VDR, CYP24A1, CYP27B1, CYP27A1
19eb 108945 6011.7BGLAP, VDR, CYP24A1, CYP27B1, CYP27A1
20alendronate45 50 1112.7BGLAP, DSPP, VDR, PTH
21hydroxyapatite4510.7BGLAP, DMP1, DSPP, FGF23, ENPP1
22kh 10604510.7BGLAP, VDR
23phosphorus4510.7BGLAP, PHEX, VDR, CYP27B1, FGF23, SLC34A1
24estrogen4510.7VDR
2522-oxacalcitriol4510.7BGLAP, VDR
26heme29 11 2412.6CYP24A1, CYP27B1, CYP27A1, CYP2R1
27cycloheximide4510.6PTH, FDX1
28nadph45 2411.6FDX1, CYP24A1, CYP27B1, CYP27A1, CYP2R1
29pge24510.6BGLAP, VDR, CYP24A1, CYP27B1, PTH
30tartrate4510.6DSPP, BGLAP
31creatinine4510.6PTH, CLCN5, FGF23, VDR, BGLAP
321,25 dihydroxy vitamin d34510.5FDX1, VDR, CYP24A1, CYP27B1, CYP27A1, FGF23
33dexamethasone45 50 29 1113.5BGLAP, DSPP, FDX1, VDR, CYP24A1, CYP27A1
34arginine4510.5BGLAP, DSPP, VDR, CYP27A1, FGF23, PTH
3525-hydroxyvitamin d4510.5BGLAP, SFRP4, FDX1, VDR, CYP24A1, CYP27B1
36sodium fluoride4510.5DSPP, BGLAP
37vitamin d4510.5BGLAP, PHEX, DMP1, DSPP, VDR, CYP24A1
38testosterone45 60 11 2413.5BGLAP, FDX1, VDR, CYP27B1, PTH
39calcitriol45 60 11 2413.5MEPE, DSPP, VDR, CYP24A1, CYP27B1, CYP27A1
40pamidronate45 50 1112.5BGLAP, PTH
41steroid4510.4FDX1, VDR, CYP24A1, CYP27B1, CYP27A1
42thiazide4510.4VDR, BGLAP
43polyglycolic acid4510.4BGLAP, DSPP
44calcium45 50 11 2413.3VDR, DSPP, DMP1, PHEX, GALNT8, SFRP4
45clodronate45 50 1112.3VDR, BGLAP
46forskolin45 50 1112.0FDX1, CYP24A1, CYP27B1, PTH

GO Terms for genes affiliated with Rickets

Sources:
16Gene Ontology
See all sources

Biological processes related to Rickets according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vitamin D 24-hydroxylase activityGO:01098010.7VDR, CYP27B1, FGF23
2vitamin D catabolic processGO:04236910.7CYP24A1, CYP27B1, FGF23
3cellular phosphate ion homeostasisGO:03064310.7FGF23, SLC34A3, ENPP1
4phosphate ion homeostasisGO:05506210.7SLC34A1, FGF23, SFRP4
5vitamin D metabolic processGO:04235910.7CYP2R1, CYP27B1, CYP24A1
6biomineral tissue developmentGO:03121410.7DMP1, MEPE, DSPP, ENPP1
7response to vitamin DGO:03328010.6CYP27B1, CYP24A1, BGLAP
8regulation of bone mineralizationGO:03050010.6BGLAP, CYP27B1, ENPP1
9decidualizationGO:04669710.6CYP27B1, VDR, SFRP4
10vitamin D receptor signaling pathwayGO:07056110.6CYP24A1, VDR
11skeletal system developmentGO:00150110.6PTH, VDR, DSPP, MEPE, PHEX, BGLAP
12vitamin metabolic processGO:00676610.6CYP24A1, CYP27B1, CYP2R1, ENPP1
13bone mineralizationGO:03028210.6CYP27B1, PHEX, BGLAP
14steroid metabolic processGO:00820210.5CYP2R1, CYP27B1, CYP24A1
15phosphate ion transportGO:00681710.5SLC34A3, SLC34A1
16xenobiotic metabolic processGO:00680510.5CYP24A1, CYP27B1, CYP27A1, CYP2R1
17positive regulation of keratinocyte differentiationGO:04561810.4VDR, CYP27B1
18phosphate-containing compound metabolic processGO:00679610.4ENPP1, FGF23
19bone remodelingGO:04684910.3ENPP1, SLC34A1
20negative regulation of bone mineralizationGO:03050210.1FGF23, MEPE

Molecular functions related to Rickets according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:01532110.4SLC34A3, SLC34A1
2iron ion bindingGO:00550610.3CYP2R1, CYP27A1, CYP27B1, CYP24A1, FDX1
3electron carrier activityGO:00905510.3FDX1, CYP24A1, CYP27B1, CYP27A1, CYP2R1
4heme bindingGO:02003710.2CYP24A1, CYP27B1, CYP27A1, CYP2R1
5vitamin D3 25-hydroxylase activityGO:03034310.1CYP2R1, CYP27A1

Products for genes affiliated with Rickets

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rickets

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet