MCID: VTM007
MIFTS: 40

Vitamin D-Dependent Rickets Type Ii malady

Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Vitamin D-Dependent Rickets Type Ii

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MalaCards: Vitamin D-Dependent Rickets Type Ii, also known as vitamin d-dependent rickets type ii with alopecia, is related to rickets and rickets, vitamin d-resistant, type iia. An important gene associated with Vitamin D-Dependent Rickets Type Ii is VDR (vitamin D (1,25- dihydroxyvitamin D3) receptor), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Tuberculosis. The compounds 24(r),25-dihydroxyvitamin d3 and 1,25(oh)2-16-ene-23-yne-d3 have been mentioned in the context of this disorder. Affiliated tissues include skin and bone.

Aliases & Classifications for Vitamin D-Dependent Rickets Type Ii

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21GeneTests, 23GTR, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

vitamin d-dependent rickets type ii 21 23
vitamin d-dependent rickets type ii with alopecia 63
vitamin d-dependent rickets, type ii 46
vitamin d-dependent rickets, type 2 63


Related Diseases for Vitamin D-Dependent Rickets Type Ii

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18GeneCards, 19GeneDecks
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Diseases in the Vitamin D-Dependent Rickets Type I family:

vitamin d-dependent rickets type ii

Diseases related to Vitamin D-Dependent Rickets Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1rickets31.7CYP27B1, VDR, BGLAP
2rickets, vitamin d-resistant, type iia30.6CYP27B1, VDR
3alopecia10.7
4myelofibrosis10.4
5renal osteodystrophy10.0VDR, BGLAP
6primary biliary cirrhosis10.0VDR, BGLAP
7herpes simplex10.0BGLAP, VDR
8x-linked hypophosphatemia10.0CYP27B1, VDR
9williams syndrome10.0VDR, CYP27B1
10prostate cancer10.0BGLAP, VDR
11basal cell carcinoma10.0VDR, CYP27B1
12osteoarthritis10.0BGLAP, VDR
13myeloid leukemia10.0CYP27B1, VDR
14psoriasis10.0CYP27B1, VDR
15arthritis10.0VDR, BGLAP
16multiple sclerosis10.0CYP27B1, VDR
17hypersensitivity reaction type ii disease10.0VDR, CYP27B1
18primary hyperoxaluria9.9VDR, CYP27B1
19hypophosphatemia9.9VDR, CYP27B1, BGLAP
20secondary hyperparathyroidism of renal origin9.9BGLAP, CYP27B1, VDR
21primary hyperparathyroidism9.9BGLAP, CYP27B1, VDR
22osteoporosis, postmenopausal9.9BGLAP, CYP27B1, VDR
23osteomalacia9.9BGLAP, CYP27B1, VDR
24hyperparathyroidism9.9VDR, CYP27B1, BGLAP
25hypercalcemia9.9CYP27B1, BGLAP, VDR
26secondary syphilis9.9BGLAP, VDR, CYP27B1
27graves' disease9.9BGLAP, VDR, CYP27B1
28osteoporosis9.9CYP27B1, VDR, BGLAP
29type 1 diabetes mellitus9.9VDR, CYP27B1, BGLAP
30chronic kidney failure9.9VDR, CYP27B1, BGLAP
31inflammatory bowel disease9.9BGLAP, CYP27B1, VDR
32osteosarcoma9.9BGLAP, CYP27B1, VDR
33diabetes mellitus9.9CYP27B1, BGLAP, VDR
34colon cancer9.9VDR, CYP27B1

Graphical network of the top 20 diseases related to Vitamin D-Dependent Rickets Type Ii:



Diseases related to vitamin d-dependent rickets type ii

Symptoms for Vitamin D-Dependent Rickets Type Ii

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Drugs & Therapeutics for Vitamin D-Dependent Rickets Type Ii

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Vitamin D-Dependent Rickets Type Ii

Genetic Tests for Vitamin D-Dependent Rickets Type Ii

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21GeneTests, 23GTR
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Genetic tests related to Vitamin D-Dependent Rickets Type Ii:

id Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets Type Ii21 VDR
2 Vitamin D-Dependent Rickets, Type 223

Anatomical Context for Vitamin D-Dependent Rickets Type Ii

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34MalaCards
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MalaCards organs/tissues related to Vitamin D-Dependent Rickets Type Ii:

34
Skin, Bone

Animal Models for Vitamin D-Dependent Rickets Type Ii or affiliated genes

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Publications for Vitamin D-Dependent Rickets Type Ii

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53PubMed
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Articles related to Vitamin D-Dependent Rickets Type Ii:

(show all 36)
idTitleAuthorsYear
1
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
2
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
3
Vitamin D dependent rickets type II: late onset of disease and response to high doses of vitamin D. (18711299)
2008
4
Vitamin D-dependent rickets type II in a cat. (16167595)
2005
5
Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature. (12956677)
2003
6
The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II. (11344183)
2001
7
Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. (9275211)
1997
8
Vitamin-D dependent rickets type II. (8772913)
1996
9
Vitamin D3 elicits calcium response and activates blood monocyte-derived macrophages from patients with vitamin D dependent rickets type II. (8914979)
1996
10
Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. (7815207)
1995
11
Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children. (7586652)
1995
12
Oral calcium treatment in vitamin D-dependent rickets type II. (7833085)
1994
13
Vitamin D-dependent rickets type II: regulation of human osteocalcin gene expression in cells with defective vitamin D receptors by 1,25-dihydroxyvitamin D-3, retinoic acid, and triiodothyronine. (7986828)
1994
14
The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). (8396512)
1993
15
Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. (8388340)
1993
16
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. (1655462)
1991
17
Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. (1653381)
1991
18
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single- strand conformation polymorphism analysis for heterozygous carrier detection. (1652893)
1991
19
The effect of 1,25-dihydroxyvitamin D3 on the growth and differentiation of cultured human outer root sheath cells from normal subjects and patients with vitamin D-dependent rickets type II with alopecia. (1742246)
1991
20
Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1 alpha,25-dihydroxyvitamin D3 receptor. (2160380)
1990
21
Effect of long-term treatment with massive doses of 1 alpha-hydroxyvitamin D3 on calcium-phosphate balance in patients with vitamin D-dependent rickets type II. (2158205)
1990
22
Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues. (2169482)
1990
23
25-Hydroxyvitamin D-24-hydroxylase in phytohemagglutinin-stimulated lymphocytes: intermediate bioresponse to 1,25-dihydroxyvitamin D3 of cells from parents of patients with vitamin D-dependent rickets type II. (2156884)
1990
24
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. (2558018)
1989
25
Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. (2537329)
1989
26
Vitamin D-dependent rickets type II: report of three cases. (3198838)
1988
27
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. (3024987)
1986
28
Bone in the marmoset: a resemblance to vitamin D-dependent rickets, type II. (3089562)
1986
29
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. (3011315)
1986
30
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
31
Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3. (6313754)
1983
32
Interaction of 1,25-dihydroxyvitamin-D3 with keratinocytes and fibroblasts from skin of normal subjects and a subject with vitamin-D-dependent rickets, type II: a model for study of the mode of action of 1,25-dihydroxyvitamin D3. (6300167)
1983
33
A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts. (6262646)
1981
34
Vitamin D-dependent rickets type II. (6770981)
1980
35
Vitamin D-dependent rickets type II. (7354819)
1980
36
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. (205789)
1978

Variations for Vitamin D-Dependent Rickets Type Ii

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Vitamin D-Dependent Rickets Type Ii:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1VDRNM_001017535.1(VDR): c.98G> A (p.Gly33Asp)single nucleotide variantPathogenicrs121909790GRCh37Chr 12, 48272799: 48272799
2VDRNM_001017535.1(VDR): c.218G> A (p.Arg73Gln)single nucleotide variantPathogenicrs121909791GRCh37Chr 12, 48258889: 48258889
3VDRNM_001017535.1(VDR): c.885C> A (p.Tyr295Ter)single nucleotide variantPathogenicrs121909792GRCh37Chr 12, 48240462: 48240462
4VDRNM_001017535.1(VDR): c.985G> A (p.Glu329Lys)single nucleotide variantPathogenicrs121909802GRCh37Chr 12, 48240157: 48240157
5VDRNM_001017535.1(VDR): c.239G> A (p.Arg80Gln)single nucleotide variantPathogenicrs121909793GRCh37Chr 12, 48258868: 48258868
6VDRNM_001017535.1(VDR): c.149G> A (p.Arg50Gln)single nucleotide variantPathogenicrs121909794GRCh37Chr 12, 48258958: 48258958
7VDRNM_001017535.1(VDR): c.454C> T (p.Gln152Ter)single nucleotide variantPathogenicrs121909795GRCh37Chr 12, 48251295: 48251295
8VDRNM_001017535.1(VDR): c.821G> T (p.Arg274Leu)single nucleotide variantPathogenicrs121909796GRCh37Chr 12, 48240526: 48240526
9VDRNM_001017535.1(VDR): c.137G> A (p.Gly46Asp)single nucleotide variantPathogenicrs121909797GRCh37Chr 12, 48272760: 48272760
10VDRNM_001017535.1(VDR): c.915C> G (p.His305Gln)single nucleotide variantPathogenicrs121909798GRCh37Chr 12, 48240227: 48240227
11VDRNM_001017535.1(VDR): c.941T> G (p.Ile314Ser)single nucleotide variantPathogenicrs121909799GRCh37Chr 12, 48240201: 48240201
12VDRNM_001017535.1(VDR): c.1171C> T (p.Arg391Cys)single nucleotide variantPathogenicrs121909800GRCh37Chr 12, 48238642: 48238642
13VDRNM_001017535.1(VDR): c.88C> T (p.Arg30Ter)single nucleotide variantPathogenicrs121909801GRCh37Chr 12, 48272809: 48272809
14VDRNM_001017535.1(VDR): c.1036G> A (p.Val346Met)single nucleotide variantPathogenicrs267607169GRCh37Chr 12, 48238777: 48238777

Expression for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vitamin D-Dependent Rickets Type Ii

Search GEO for disease gene expression data for Vitamin D-Dependent Rickets Type Ii.

Pathways for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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51PathCards, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Vitamin D-Dependent Rickets Type Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3BGLAP, VDR
29.0CYP27B1, VDR
39.0VDR, CYP27B1
49.0CYP27B1, VDR
58.5BGLAP, CYP27B1, VDR

Compounds for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Vitamin D-Dependent Rickets Type Ii according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
124(r),25-dihydroxyvitamin d3469.8VDR, BGLAP
21,25(oh)2-16-ene-23-yne-d3469.7VDR, BGLAP
3kh 1060469.7VDR, BGLAP
422-oxacalcitriol469.7VDR, BGLAP
5clodronate46 52 1211.7BGLAP, VDR
6thiazide469.7BGLAP, VDR
7hydrochlorothiazide46 30 52 25 1213.7BGLAP, VDR
8deoxypyridinoline469.7BGLAP, VDR
9alendronate46 52 1211.7VDR, BGLAP
10raloxifene46 52 30 1212.7BGLAP, VDR
11caffeine46 30 3 52 25 1214.6BGLAP, VDR
12dihydrotestosterone46 30 25 1212.6BGLAP, VDR
13thyroxine46 2510.6VDR, BGLAP
14ascorbic acid46 2510.5BGLAP, VDR
15sb 20358046 6210.5BGLAP, VDR
16Calcidiol25 1210.4VDR, CYP27B1
17gemini469.4VDR, CYP27B1
18tamoxifen46 52 30 1212.4VDR, BGLAP
19calcifediol629.4VDR, CYP27B1
20Ergocalciferol25 1210.4CYP27B1, VDR
21Vitamin D3259.4VDR, CYP27B1
22paricalcitol46 1210.4CYP27B1, VDR
23cyclosporin a46 30 6211.3BGLAP, VDR
24vitamin a46 25 1211.3CYP27B1, VDR
25chloramphenicol46 3 52 1212.3CYP27B1, VDR
26retinoid469.2VDR, CYP27B1
27estradiol46 25 1211.1BGLAP, CYP27B1
28paraffin469.0CYP27B1, BGLAP
29alfacalcidol46 62 1210.9BGLAP, CYP27B1, VDR
3024,25-dihydroxyvitamin d3468.9BGLAP, CYP27B1, VDR
31calcipotriol46 62 30 1211.9VDR, CYP27B1, BGLAP
32eb 108946 629.9BGLAP, CYP27B1, VDR
3325-hydroxyvitamin d468.9VDR, CYP27B1, BGLAP
34phosphorus468.9BGLAP, CYP27B1, VDR
351,25 dihydroxy vitamin d3468.9BGLAP, CYP27B1, VDR
36calcitriol46 62 25 1211.9BGLAP, CYP27B1, VDR
37vitamin d468.9VDR, CYP27B1, BGLAP
38pge2468.9VDR, CYP27B1, BGLAP
39testosterone46 62 25 1211.8BGLAP, CYP27B1, VDR
40estrogen468.8VDR, CYP27B1, BGLAP
41retinoic acid46 259.8BGLAP, CYP27B1, VDR
42cysteine468.8VDR, CYP27B1, BGLAP
43genistein46 30 62 3 25 1213.7CYP27B1, VDR
44calcium46 52 25 1211.6BGLAP, CYP27B1, VDR

GO Terms for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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17Gene Ontology
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Biological processes related to Vitamin D-Dependent Rickets Type Ii according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1response to vitamin DGO:0332809.3CYP27B1, BGLAP
2regulation of bone mineralizationGO:0305009.3BGLAP, CYP27B1
3positive regulation of vitamin D 24-hydroxylase activityGO:0109809.3CYP27B1, VDR
4positive regulation of keratinocyte differentiationGO:0456189.2CYP27B1, VDR
5bone mineralizationGO:0302829.2CYP27B1, BGLAP
6decidualizationGO:0466979.1CYP27B1, VDR
7response to estrogenGO:0436279.1BGLAP, CYP27B1
8skeletal system developmentGO:0015019.0BGLAP, VDR
9negative regulation of cell proliferationGO:0082859.0CYP27B1, VDR
10calcium ion transportGO:0068168.9CYP27B1, VDR

Products for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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  • Antibodies
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Sources for Vitamin D-Dependent Rickets Type Ii

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet