MCID: VTM007
MIFTS: 37

Vitamin D-Dependent Rickets Type Ii malady

Genetic diseases (common) category

Summaries for Vitamin D-Dependent Rickets Type Ii

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MalaCards based summary: Vitamin D-Dependent Rickets Type Ii, also known as vitamin d-dependent rickets, type ii, 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.

Aliases & Classifications for Vitamin D-Dependent Rickets Type Ii

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Sources:
22GeneTests, 45Novoseek, 24GTR, 62UMLS
See all sources

Vitamin D-Dependent Rickets Type Ii, Aliases & Descriptions:

Name: Vitamin D-Dependent Rickets Type Ii 22
Vitamin D-Dependent Rickets, Type Ii 45 24
 
Vitamin D-Dependent Rickets, Type 2 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Vitamin D-Dependent Rickets Type Ii

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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 32)
idRelated DiseaseScoreTop Affiliating Genes
1rickets31.8BGLAP, CYP27B1, VDR
2rickets, vitamin d-resistant, type iia30.9VDR, CYP27B1
3alopecia10.8
4myelofibrosis10.4
5renal osteodystrophy10.0BGLAP, VDR
6primary biliary cirrhosis10.0BGLAP, VDR
7herpes simplex10.0BGLAP, VDR
8hypophosphatemic rickets, x-linked dominant10.0CYP27B1, VDR
9williams-beuren syndrome10.0CYP27B1, VDR
10prostate cancer10.0BGLAP, VDR
11basal cell carcinoma10.0CYP27B1, VDR
12osteoarthritis10.0BGLAP, VDR
13myeloid leukemia10.0CYP27B1, VDR
14psoriasis10.0VDR, CYP27B1
15arthritis10.0BGLAP, VDR
16multiple sclerosis, disease progression, modifier of10.0CYP27B1, VDR
17hypersensitivity reaction type ii disease10.0CYP27B1, VDR
18primary hyperoxaluria10.0VDR, CYP27B1
19hypophosphatemia10.0VDR, CYP27B1, BGLAP
20secondary hyperparathyroidism of renal origin10.0BGLAP, CYP27B1, VDR
21primary hyperparathyroidism10.0BGLAP, CYP27B1, VDR
22osteomalacia10.0BGLAP, CYP27B1, VDR
23hyperparathyroidism10.0VDR, CYP27B1, BGLAP
24hypercalcemia10.0BGLAP, CYP27B1, VDR
25secondary syphilis10.0VDR, CYP27B1, BGLAP
26graves' disease10.0BGLAP, CYP27B1, VDR
27osteoporosis10.0VDR, CYP27B1, BGLAP
28chronic kidney failure10.0VDR, CYP27B1, BGLAP
29inflammatory bowel disease10.0BGLAP, CYP27B1, VDR
30osteosarcoma, somatic10.0BGLAP, CYP27B1, VDR
31diabetes mellitus, insulin-dependent10.0VDR, CYP27B1, BGLAP
32colorectal cancer10.0CYP27B1, VDR

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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Drug clinical trials:

Search ClinicalTrials for Vitamin D-Dependent Rickets Type Ii

Search NIH Clinical Center for Vitamin D-Dependent Rickets Type Ii

Genetic Tests for Vitamin D-Dependent Rickets Type Ii

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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 Ii22 VDR
2 Vitamin D-Dependent Rickets, Type 224

Anatomical Context for Vitamin D-Dependent Rickets Type Ii

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

33
Skin

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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Articles related to Vitamin D-Dependent Rickets Type Ii:

(show all 38)
idTitleAuthorsYear
1
Vitamin D - Dependent Rickets, Type II Case Report. (24757409)
2014
2
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
3
Alopecia in vitamin D-dependent rickets type II responding to 1I+-hydroxycholecalciferol. (21118628)
2010
4
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. (18426327)
2008
5
Vitamin D dependent rickets type II: late onset of disease and response to high doses of vitamin D. (18711299)
2008
6
Vitamin D-dependent rickets type II in a cat. (16167595)
2005
7
Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature. (12956677)
2003
8
The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II. (11344183)
2001
9
Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. (9275211)
1997
10
Vitamin-D dependent rickets type II. (8772913)
1996
11
Vitamin D3 elicits calcium response and activates blood monocyte-derived macrophages from patients with vitamin D dependent rickets type II. (8914979)
1996
12
Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. (7815207)
1995
13
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
14
Oral calcium treatment in vitamin D-dependent rickets type II. (7833085)
1994
15
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
16
The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). (8396512)
1993
17
Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. (8388340)
1993
18
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. (1655462)
1991
19
Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. (1653381)
1991
20
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
21
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
22
Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1 alpha,25-dihydroxyvitamin D3 receptor. (2160380)
1990
23
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
24
Prenatal diagnosis of vitamin D-dependent rickets, type II: response to 1,25-dihydroxyvitamin D in amniotic fluid cells and fetal tissues. (2169482)
1990
25
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
26
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. (2558018)
1989
27
Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. (2537329)
1989
28
Vitamin D-dependent rickets type II: report of three cases. (3198838)
1988
29
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. (3024987)
1986
30
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. (3011315)
1986
31
The common marmoset as an animal model for vitamin D-dependent rickets, type II. (3012983)
1986
32
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
33
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
34
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
35
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
36
Vitamin D-dependent rickets type II. (6770981)
1980
37
Vitamin D-dependent rickets type II. (7354819)
1980
38
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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Expression for genes affiliated with Vitamin D-Dependent Rickets Type Ii

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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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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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Compounds related to Vitamin D-Dependent Rickets Type Ii according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
124(r),25-dihydroxyvitamin d3459.8VDR, BGLAP
21,25(oh)2-16-ene-23-yne-d3459.7VDR, BGLAP
3kh 1060459.7VDR, BGLAP
422-oxacalcitriol459.7VDR, BGLAP
5clodronate45 51 1311.7BGLAP, VDR
6thiazide459.7BGLAP, VDR
7hydrochlorothiazide45 30 51 26 1313.7BGLAP, VDR
8deoxypyridinoline459.7BGLAP, VDR
9alendronate45 51 1311.7VDR, BGLAP
10raloxifene45 51 30 1312.7BGLAP, VDR
11caffeine45 30 3 51 26 1314.6BGLAP, VDR
12dihydrotestosterone45 30 26 1312.6BGLAP, VDR
13thyroxine45 2610.6VDR, BGLAP
14ascorbic acid45 2610.5BGLAP, VDR
15sb 20358045 6110.5BGLAP, VDR
16Calcidiol26 1310.4VDR, CYP27B1
17gemini459.4VDR, CYP27B1
18tamoxifen45 51 30 1312.4VDR, BGLAP
19calcifediol619.4VDR, CYP27B1
20Ergocalciferol26 1310.4CYP27B1, VDR
21Vitamin D3269.4VDR, CYP27B1
22paricalcitol45 1310.4CYP27B1, VDR
23cyclosporin a45 30 6111.3BGLAP, VDR
24vitamin a45 26 1311.3CYP27B1, VDR
25chloramphenicol45 3 51 1312.3CYP27B1, VDR
26retinoid459.2VDR, CYP27B1
27estradiol45 26 1311.1BGLAP, CYP27B1
28paraffin459.0CYP27B1, BGLAP
29alfacalcidol45 61 1310.9BGLAP, CYP27B1, VDR
3024,25-dihydroxyvitamin d3458.9BGLAP, CYP27B1, VDR
31calcipotriol45 61 30 1311.9VDR, CYP27B1, BGLAP
32eb 108945 619.9BGLAP, CYP27B1, VDR
3325-hydroxyvitamin d458.9VDR, CYP27B1, BGLAP
34phosphorus458.9BGLAP, CYP27B1, VDR
351,25 dihydroxy vitamin d3458.9BGLAP, CYP27B1, VDR
36calcitriol45 61 26 1311.9BGLAP, CYP27B1, VDR
37vitamin d458.9VDR, CYP27B1, BGLAP
38pge2458.9VDR, CYP27B1, BGLAP
39testosterone45 61 26 1311.8BGLAP, CYP27B1, VDR
40estrogen458.8VDR, CYP27B1, BGLAP
41retinoic acid45 269.8BGLAP, CYP27B1, VDR
42cysteine458.8VDR, CYP27B1, BGLAP
43genistein45 30 61 3 26 1313.7CYP27B1, VDR
44calcium45 51 26 1311.6BGLAP, CYP27B1, VDR

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

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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:00332809.3CYP27B1, BGLAP
2regulation of bone mineralizationGO:00305009.3BGLAP, CYP27B1
3positive regulation of vitamin D 24-hydroxylase activityGO:00109809.3CYP27B1, VDR
4positive regulation of keratinocyte differentiationGO:00456189.2CYP27B1, VDR
5bone mineralizationGO:00302829.2CYP27B1, BGLAP
6decidualizationGO:00466979.1CYP27B1, VDR
7response to estrogenGO:00436279.1BGLAP, CYP27B1
8skeletal system developmentGO:00015019.0BGLAP, VDR
9negative regulation of cell proliferationGO:00082859.0CYP27B1, VDR
10calcium ion transportGO:00068168.9CYP27B1, VDR

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

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Sources for Vitamin D-Dependent Rickets Type Ii

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet