MCID: VTM007
MIFTS: 39

Vitamin D-Dependent Rickets Type Ii malady

Categories: Genetic diseases

Aliases & Classifications for Vitamin D-Dependent Rickets Type Ii

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

Name: Vitamin D-Dependent Rickets Type Ii 24 29
Vitamin D-Dependent Rickets, Type Ii 52
Vitamin D-Dependent Rickets, Type 2a 69
Familial Hypophosphatemic Rickets 69
Rickets-Alopecia Syndrome 24

Classifications:



Summaries for Vitamin D-Dependent Rickets Type Ii

MalaCards based summary : Vitamin D-Dependent Rickets Type Ii, also known as vitamin d-dependent rickets, type ii, is related to rickets, vitamin d-resistant, type iia and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D-Dependent Rickets Type Ii is VDR (Vitamin D Receptor), and among its related pathways/superpathways are Tuberculosis and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Ergocalciferol and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are craniofacial and limbs/digits/tail

Related Diseases for Vitamin D-Dependent Rickets Type Ii

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 Suite gene sharing:

(show all 41)
id Related Disease Score Top Affiliating Genes
1 rickets, vitamin d-resistant, type iia 11.3
2 rickets 10.8
3 alopecia 10.3
4 waardenburg syndrome, type 4b 10.1 PTH VDR
5 osteochondrodysplasia 10.1 PTH VDR
6 achalasia-addisonianism-alacrimia syndrome 10.0 CYP27B1 VDR
7 orbit lymphoma 10.0 CYP27B1 PTH
8 weill-marchesani syndrome 10.0 PTH VDR
9 prostate cancer, hereditary, x-linked 2 10.0 CYP27B1 VDR
10 indian tick typhus 10.0 PTH VDR
11 hypochondrogenesis 10.0 BGLAP PTH
12 toxicodendron dermatitis 10.0 BGLAP PTH
13 myelofibrosis 10.0
14 adult ependymoblastoma 10.0 BGLAP PTH
15 hypophosphatasia, adult 10.0 BGLAP PTH
16 mesenchymal cell neoplasm 10.0 BGLAP PTH
17 prediabetes syndrome 9.9 BGLAP PTH
18 obesity, severe bmiq9 9.9 BGLAP PTH
19 intracranial thrombosis 9.9 BGLAP PTH
20 bile duct mucoepidermoid carcinoma 9.9 PTH VDR
21 chromosomal disease 9.9 BGLAP PTH
22 high-grade dysplasia in patients with barrett esophagus 9.9 BGLAP VDR
23 opportunistic bacterial infectious disease 9.9 BGLAP PTH
24 coffin-lowry syndrome 9.9 CYP27B1 PTH VDR
25 gastric antral vascular ectasia 9.9 CYP27B1 PTH VDR
26 chronic myocardial ischemia 9.8 CYP27B1 PTH VDR
27 pancreas adenocarcinoma 9.8 BGLAP PTH
28 hypotrichosis 8 9.8 BGLAP PTH
29 acrorenal syndrome 9.8 BGLAP PTH VDR
30 tinea unguium 9.8 BGLAP PTH VDR
31 opioid abuse 9.8 BGLAP PTH VDR
32 pre-eclampsia 9.8 BGLAP PTH VDR
33 parathyroid carcinoma 9.8 BGLAP PTH VDR
34 dysbaric osteonecrosis 9.8 BGLAP PTH VDR
35 bladder papillary transitional cell neoplasm 9.7 BGLAP PTH
36 y chromosome detection 9.6 BGLAP CYP27B1 PTH VDR
37 pes anserinus tendinitis or bursitis 9.6 BGLAP CYP27B1 PTH VDR
38 ischemic bone disease 9.5 BGLAP CYP27B1 PTH VDR
39 allergic urticaria 9.5 BGLAP CYP27B1 PTH VDR
40 subserous uterine fibroid 9.5 BGLAP CYP27B1 PTH VDR
41 carnitine deficiency, systemic primary 9.5 BGLAP CYP27B1 PTH 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 & Phenotypes for Vitamin D-Dependent Rickets Type Ii

UMLS symptoms related to Vitamin D-Dependent Rickets Type Ii:


muscle weakness, bone pain, difficulty standing

MGI Mouse Phenotypes related to Vitamin D-Dependent Rickets Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 CYP27B1 PTH VDR
2 limbs/digits/tail MP:0005371 8.8 CYP27B1 PTH VDR

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type Ii

Drugs for Vitamin D-Dependent Rickets Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
2 Hormone Antagonists Phase 3,Phase 1,Phase 2
3 Hormones Phase 3,Phase 1,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2
5 vitamin d Phase 3
6 Mitogens Phase 3,Phase 2,Phase 1
7 Trace Elements Phase 3
8 Ergocalciferols Phase 3
9 Vitamins Phase 3
10 Micronutrients Phase 3
11 Bone Density Conservation Agents Phase 3
12 Immunoglobulin G Phase 3,Phase 2
13 Immunoglobulins Phase 3,Phase 2
14 Antibodies, Monoclonal Phase 3,Phase 2
15 Antibodies Phase 3,Phase 2
16 Vitamin D2 Nutraceutical Phase 3
17 Calciferol Nutraceutical Phase 3
18 Cinacalcet Hydrochloride Phase 1
19 Calcimimetic Agents Phase 1
20
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
21
Iron Approved 7439-89-6 23925
22
Teriparatide Approved, Investigational 52232-67-4 16133850
23
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
24
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
25
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
26 Calcitonin Gene-Related Peptide
27 calcitonin
28 Cholinergic Agents
29 Neurotransmitter Agents
30 Peripheral Nervous System Agents
31 Vasodilator Agents
32 Respiratory System Agents
33 Methacholine Chloride
34 Autonomic Agents
35 glucocorticoids
36 Hematinics
37 Ferrous gluconate
38 Calcium, Dietary
39 Chelating Agents
40 Hydroxycholecalciferols
41 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
2 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3
3 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
4 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Recruiting NCT02915705 Phase 3
5 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
6 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
7 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2
8 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2
9 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2
10 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
11 Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Enrolling by invitation NCT02312687 Phase 2
13 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1
14 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1
15 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1
16 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1
17 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1
18 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740
19 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
20 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573
21 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
22 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322
23 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Recruiting NCT01660308
24 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
25 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186

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

Genetic Tests for Vitamin D-Dependent Rickets Type Ii

Genetic tests related to Vitamin D-Dependent Rickets Type Ii:

id Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets, Type 2 29
2 Vitamin D-Dependent Rickets Type Ii 24 VDR

Anatomical Context for Vitamin D-Dependent Rickets Type Ii

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

39
Bone, Skin

Publications for Vitamin D-Dependent Rickets Type Ii

Articles related to Vitamin D-Dependent Rickets Type Ii:

(show all 39)
id Title Authors Year
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: late onset of disease and response to high doses of vitamin D. ( 18711299 )
2008
5
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. ( 18426327 )
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
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
13
Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. ( 7815207 )
1995
14
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
15
Oral calcium treatment in vitamin D-dependent rickets type II. ( 7833085 )
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
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
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
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. ( 1655462 )
1991
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
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
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
25
Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1 alpha,25-dihydroxyvitamin D3 receptor. ( 2160380 )
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
The common marmoset as an animal model for vitamin D-dependent rickets, type II. ( 3012983 )
1986
31
Bone in the marmoset: a resemblance to vitamin D-dependent rickets, type II. ( 3089562 )
1986
32
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. ( 3011315 )
1986
33
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
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
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
36
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
37
Vitamin D-dependent rickets type II. ( 6770981 )
1980
38
Vitamin D-dependent rickets type II. ( 7354819 )
1980
39
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

ClinVar genetic disease variations for Vitamin D-Dependent Rickets Type Ii:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 VDR NM_001017535.1(VDR): c.98G> A (p.Gly33Asp) single nucleotide variant Pathogenic rs121909790 GRCh37 Chromosome 12, 48272799: 48272799
2 VDR NM_001017535.1(VDR): c.218G> A (p.Arg73Gln) single nucleotide variant Pathogenic rs121909791 GRCh37 Chromosome 12, 48258889: 48258889
3 VDR NM_001017535.1(VDR): c.885C> A (p.Tyr295Ter) single nucleotide variant Pathogenic rs121909792 GRCh37 Chromosome 12, 48240462: 48240462
4 VDR NM_001017535.1(VDR): c.985G> A (p.Glu329Lys) single nucleotide variant Pathogenic rs121909802 GRCh37 Chromosome 12, 48240157: 48240157
5 VDR NM_001017535.1(VDR): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs121909793 GRCh37 Chromosome 12, 48258868: 48258868
6 VDR NM_001017535.1(VDR): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909794 GRCh37 Chromosome 12, 48258958: 48258958
7 VDR NM_001017535.1(VDR): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs121909795 GRCh37 Chromosome 12, 48251295: 48251295
8 VDR NM_001017535.1(VDR): c.821G> T (p.Arg274Leu) single nucleotide variant Pathogenic rs121909796 GRCh37 Chromosome 12, 48240526: 48240526
9 VDR NM_001017535.1(VDR): c.137G> A (p.Gly46Asp) single nucleotide variant Pathogenic rs121909797 GRCh37 Chromosome 12, 48272760: 48272760
10 VDR NM_001017535.1(VDR): c.915C> G (p.His305Gln) single nucleotide variant Pathogenic rs121909798 GRCh37 Chromosome 12, 48240227: 48240227
11 VDR NM_001017535.1(VDR): c.941T> G (p.Ile314Ser) single nucleotide variant Pathogenic rs121909799 GRCh37 Chromosome 12, 48240201: 48240201
12 VDR NM_001017535.1(VDR): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs121909800 GRCh37 Chromosome 12, 48238642: 48238642
13 VDR NM_001017535.1(VDR): c.88C> T (p.Arg30Ter) single nucleotide variant Pathogenic rs121909801 GRCh37 Chromosome 12, 48272809: 48272809
14 VDR VDR, 1-BP DEL, 366C deletion Pathogenic
15 VDR NM_001017535.1(VDR): c.1036G> A (p.Val346Met) single nucleotide variant Pathogenic rs267607169 GRCh37 Chromosome 12, 48238777: 48238777
16 VDR NM_001017535.1(VDR): c.1190A> C (p.His397Pro) single nucleotide variant Pathogenic rs886037890 GRCh37 Chromosome 12, 48238623: 48238623
17 VDR NM_001017535.1(VDR): c.1171C> A (p.Arg391Ser) single nucleotide variant Pathogenic rs121909800 GRCh37 Chromosome 12, 48238642: 48238642

Expression for Vitamin D-Dependent Rickets Type Ii

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

Pathways for Vitamin D-Dependent Rickets Type Ii

GO Terms for Vitamin D-Dependent Rickets Type Ii

Biological processes related to Vitamin D-Dependent Rickets Type Ii according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.51 CYP27B1 VDR
2 response to ethanol GO:0045471 9.49 BGLAP PTH
3 cellular calcium ion homeostasis GO:0006874 9.48 PTH VDR
4 response to estrogen GO:0043627 9.46 BGLAP CYP27B1
5 response to nutrient levels GO:0031667 9.43 BGLAP PTH
6 bone mineralization GO:0030282 9.4 BGLAP CYP27B1
7 decidualization GO:0046697 9.37 CYP27B1 VDR
8 skeletal system development GO:0001501 9.33 BGLAP PTH VDR
9 regulation of bone mineralization GO:0030500 9.32 BGLAP CYP27B1
10 positive regulation of keratinocyte differentiation GO:0045618 9.26 CYP27B1 VDR
11 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.96 CYP27B1 VDR
12 response to vitamin D GO:0033280 8.8 BGLAP CYP27B1 PTH

Sources for Vitamin D-Dependent Rickets Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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