MCID: VTM027
MIFTS: 51

Vitamin D-Dependent Rickets, Type 2a

Categories: Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Vitamin D-Dependent Rickets, Type 2a

MalaCards integrated aliases for Vitamin D-Dependent Rickets, Type 2a:

Name: Vitamin D-Dependent Rickets, Type 2a 57 40 73
Hvdrr 57 59 75 55
Hypocalcemic Vitamin D-Resistant Rickets 57 59 75
Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol 57 75
Generalized Resistance to 1,25-Dihydroxyvitamin D 57 75
Rickets, Hereditary Vitamin D-Resistant 57 73
Rickets, Vitamin D-Resistant, Type Iia 57 13
Vitamin D-Dependent Rickets, Type 2 29 6
Rickets-Alopecia Syndrome 57 75
Pddr Iia 57 75
Vddr2a 57 75
Vitamin D-Dependent Rickets, Type 2a, with or Without Alopecia 57
Vitamin D-Dependent Rickets Type 2a with or Without Alopecia 75
Rickets, Hereditary Vitamin D-Resistant; Hvdrr 57
Hypophosphatemic Rickets, X-Linked Dominant 73
Hereditary Vitamin D-Resistant Rickets 59
Rickets Hereditary Vitamin D-Resistant 75
Pseudovitamin D-Deficiency, Type Iia 57
Vitamin D-Dependent Rickets, Type Ii 55
Generalized 1,25-Dihydroxyvitamin D 57
Vitamin D-Dependent Rickets Type Ii 59
Vitamin D-Resistant Rickets Type Ii 59
Pseudovitamin D-Deficiency Type Iia 75
Familial Hypophosphatemic Rickets 73
Rickets Vitamin D-Dependent 2a 75
Type Iia Rickets 75
Vddr Ii 59
Vdrr Ii 59

Characteristics:

Orphanet epidemiological data:

59
hypocalcemic vitamin d-resistant rickets
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset within first 6 months of life
some patients can be treated with large doses of vitamin d and calcium


HPO:

32
vitamin d-dependent rickets, type 2a:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vitamin D-Dependent Rickets, Type 2a

OMIM : 57 Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700). (277440)

MalaCards based summary : Vitamin D-Dependent Rickets, Type 2a, also known as hvdrr, is related to rickets and vitamin d-dependent rickets, type 2b, with normal vitamin d receptor, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D-Dependent Rickets, Type 2a is VDR (Vitamin D Receptor), and among its related pathways/superpathways are Tuberculosis and Parathyroid hormone synthesis, secretion and action. The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are joint dislocation and frontal bossing

UniProtKB/Swiss-Prot : 75 Rickets vitamin D-dependent 2A: A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.

Related Diseases for Vitamin D-Dependent Rickets, Type 2a

Graphical network of the top 20 diseases related to Vitamin D-Dependent Rickets, Type 2a:



Diseases related to Vitamin D-Dependent Rickets, Type 2a

Symptoms & Phenotypes for Vitamin D-Dependent Rickets, Type 2a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Growth Other:
failure to thrive
growth retardation
poor growth

Skeletal:
rickets
bone pain
thin bony cortex
sparse bone trabeculae
increased fractures

Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Neurologic Central Nervous System:
delayed motor development
seizures due to hypocalcemia

Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

Abdomen External Features:
protuberant abdomen due to muscle weakness

Skin Nails Hair Skin:
cutaneous 0.5 to 1.0 cm bluish and flesh-colored papules (rarely reported)
cutaneous cysts

Skin Nails Hair Hair:
alopecia, complete, in approximately 75% of patients
alopecia appears within 12 months of age and is permanent
eyelashes may be spared

Muscle Soft Tissue:
muscle weakness
difficulty walking
difficulty standing
hypotonia

Laboratory Abnormalities:
hypophosphatemia
hypocalcemia
increased serum 1,25-dihydroxyvitamin d3
increased serum parathyroid hormone
increased serum alkaline phosphatase
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Endocrine Features:
secondary hyperparathyroidism

Head And Neck Teeth:
delayed tooth eruption
enamel hypoplasia
dental caries by age 2 years

Chest Ribs Sternum Clavicles And Scapulae:
'bulging' of the costochondral junction
deformed rib cage

Head And Neck Ears:
deafness, sensorineural, mild (rare)

Skin Nails Hair Skin Histology:
absence of normal hair follicles
follicular remnants in cysts
cysts are similar to those seen in 'atrichia with papular lesions'


Clinical features from OMIM:

277440

Human phenotypes related to Vitamin D-Dependent Rickets, Type 2a:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
2 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
3 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
4 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
8 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
9 abnormality of the thorax 59 32 frequent (33%) Frequent (79-30%) HP:0000765
10 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
11 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
12 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
13 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
14 hypocalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002901
15 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
16 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
17 hyperparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000843
18 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
19 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
20 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
21 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
22 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
23 abnormality of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000951
24 rough bone trabeculation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100670
25 premature loss of primary teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006323
26 muscular hypotonia 32 HP:0001252
27 failure to thrive 32 HP:0001508
28 abnormality of the dentition 59 Occasional (29-5%)
29 carious teeth 32 HP:0000670
30 rickets 32 HP:0002748
31 abdominal wall muscle weakness 32 HP:0009023
32 irritability 32 HP:0000737
33 delayed eruption of teeth 32 HP:0000684
34 growth delay 32 HP:0001510
35 flat occiput 32 HP:0005469
36 elevated circulating parathyroid hormone level 32 HP:0003165
37 difficulty walking 32 HP:0002355
38 motor delay 32 HP:0001270
39 femoral bowing 32 HP:0002980
40 abnormal bone structure 59 Very frequent (99-80%)
41 generalized hypotonia 32 HP:0001290
42 elevated alkaline phosphatase 32 HP:0003155
43 abnormality of adipose tissue 59 Frequent (79-30%)
44 tibial bowing 32 HP:0002982
45 alopecia universalis 32 HP:0002289
46 bowing of the legs 32 HP:0002979
47 hypoplasia of dental enamel 32 HP:0006297
48 widely patent fontanelles and sutures 32 HP:0004492
49 protuberant abdomen 32 HP:0001538
50 hypocalcemic seizures 32 HP:0002199

UMLS symptoms related to Vitamin D-Dependent Rickets, Type 2a:


muscle weakness, bone pain, difficulty standing, arthralgia

MGI Mouse Phenotypes related to Vitamin D-Dependent Rickets, Type 2a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 CYP27B1 NR1H2 VDR
2 muscle MP:0005369 8.8 NR1H2 VDR CYP27B1

Drugs & Therapeutics for Vitamin D-Dependent Rickets, Type 2a

Drugs for Vitamin D-Dependent Rickets, Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
3 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
4 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
6 Mitogens Phase 3,Phase 2,Phase 1
7 Bone Density Conservation Agents Phase 3,Not Applicable
8 Ergocalciferols Phase 3,Not Applicable
9 Micronutrients Phase 3,Not Applicable
10 Trace Elements Phase 3,Not Applicable
11 Vitamins Phase 3,Not Applicable
12 Antibodies Phase 3,Phase 2
13 Antibodies, Monoclonal Phase 3,Phase 2
14 Immunoglobulin G Phase 3,Phase 2
15 Immunoglobulins Phase 3,Phase 2
16 Calciferol Nutraceutical Phase 3,Not Applicable
17 Vitamin D2 Nutraceutical Phase 3,Not Applicable
18 Calcimimetic Agents Phase 1,Not Applicable
19 Cinacalcet Hydrochloride Phase 1,Not Applicable
20
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
21
Iron Approved Not Applicable 7439-89-6 23925
22
Teriparatide Approved, Investigational 52232-67-4 16133850
23
Sevelamer Approved 52757-95-6
24
Calcitriol Approved, Nutraceutical Not Applicable 32222-06-3 134070 5280453
25
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
26
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
27 Autonomic Agents Not Applicable
28 Cholinergic Agents Not Applicable
29 Methacholine Chloride Not Applicable
30 Neurotransmitter Agents Not Applicable
31 Peripheral Nervous System Agents Not Applicable
32 Respiratory System Agents Not Applicable
33 calcitonin Not Applicable
34 Vasodilator Agents Not Applicable
35 Ferrous gluconate Not Applicable
36 Hematinics Not Applicable
37 Calcium, Dietary
38 glucocorticoids
39 Chelating Agents
40 Hydroxycholecalciferols
41 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
2 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
3 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
4 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
5 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
6 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
7 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
8 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
9 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
10 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
11 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Active, not recruiting NCT02312687 Phase 2
12 Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
13 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
14 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
15 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
16 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
17 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
18 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Not Applicable Cinacalcet
19 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
20 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
21 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
22 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
23 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
24 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
25 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
26 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
27 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
28 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
29 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
30 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186 Sevelamer
31 Registry for Patients With X-linked Hypophosphatemia Not yet recruiting NCT03193476
32 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

Search NIH Clinical Center for Vitamin D-Dependent Rickets, Type 2a

Genetic Tests for Vitamin D-Dependent Rickets, Type 2a

Genetic tests related to Vitamin D-Dependent Rickets, Type 2a:

# Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets, Type 2 29 VDR

Anatomical Context for Vitamin D-Dependent Rickets, Type 2a

MalaCards organs/tissues related to Vitamin D-Dependent Rickets, Type 2a:

41
Bone, Skin, Kidney, Cortex

Publications for Vitamin D-Dependent Rickets, Type 2a

Articles related to Vitamin D-Dependent Rickets, Type 2a:

# Title Authors Year
1
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008
2
Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers. ( 17106204 )
2007
3
Calcium and vitamin D metabolism in hypocalcemic vitamin D-resistant rickets carriers. ( 16424674 )
2006

Variations for Vitamin D-Dependent Rickets, Type 2a

UniProtKB/Swiss-Prot genetic disease variations for Vitamin D-Dependent Rickets, Type 2a:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 VDR p.Gly33Asp VAR_004656 rs121909790
2 VDR p.His35Gln VAR_004657
3 VDR p.Lys45Glu VAR_004658
4 VDR p.Gly46Asp VAR_004659 rs121909797
5 VDR p.Phe47Ile VAR_004660
6 VDR p.Arg50Gln VAR_004661 rs121909794
7 VDR p.Arg73Gln VAR_004662 rs121909791
8 VDR p.Arg80Gln VAR_004663 rs121909793
9 VDR p.Arg274Leu VAR_004664 rs121909796
10 VDR p.His305Gln VAR_004665 rs121909798
11 VDR p.Ile314Ser VAR_004666 rs121909799
12 VDR p.Arg391Cys VAR_004667 rs121909800
13 VDR p.Val346Met VAR_079326 rs267607169
14 VDR p.Ser360Pro VAR_079327

ClinVar genetic disease variations for Vitamin D-Dependent Rickets, Type 2a:

6
(show all 31)
# 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.98G> A (p.Gly33Asp) single nucleotide variant Pathogenic rs121909790 GRCh38 Chromosome 12, 47879016: 47879016
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.885C> A (p.Tyr295Ter) single nucleotide variant Pathogenic rs121909792 GRCh38 Chromosome 12, 47846679: 47846679
5 VDR NM_001017535.1(VDR): c.985G> A (p.Glu329Lys) single nucleotide variant Pathogenic rs121909802 GRCh37 Chromosome 12, 48240157: 48240157
6 VDR NM_001017535.1(VDR): c.985G> A (p.Glu329Lys) single nucleotide variant Pathogenic rs121909802 GRCh38 Chromosome 12, 47846374: 47846374
7 VDR NM_001017535.1(VDR): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs121909793 GRCh37 Chromosome 12, 48258868: 48258868
8 VDR NM_001017535.1(VDR): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs121909793 GRCh38 Chromosome 12, 47865085: 47865085
9 VDR NM_001017535.1(VDR): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909794 GRCh37 Chromosome 12, 48258958: 48258958
10 VDR NM_001017535.1(VDR): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909794 GRCh38 Chromosome 12, 47865175: 47865175
11 VDR NM_001017535.1(VDR): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs121909795 GRCh37 Chromosome 12, 48251295: 48251295
12 VDR NM_001017535.1(VDR): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs121909795 GRCh38 Chromosome 12, 47857512: 47857512
13 VDR NM_001017535.1(VDR): c.821G> T (p.Arg274Leu) single nucleotide variant Pathogenic rs121909796 GRCh37 Chromosome 12, 48240526: 48240526
14 VDR NM_001017535.1(VDR): c.821G> T (p.Arg274Leu) single nucleotide variant Pathogenic rs121909796 GRCh38 Chromosome 12, 47846743: 47846743
15 VDR NM_001017535.1(VDR): c.137G> A (p.Gly46Asp) single nucleotide variant Pathogenic rs121909797 GRCh37 Chromosome 12, 48272760: 48272760
16 VDR NM_001017535.1(VDR): c.137G> A (p.Gly46Asp) single nucleotide variant Pathogenic rs121909797 GRCh38 Chromosome 12, 47878977: 47878977
17 VDR NM_001017535.1(VDR): c.915C> G (p.His305Gln) single nucleotide variant Pathogenic rs121909798 GRCh37 Chromosome 12, 48240227: 48240227
18 VDR NM_001017535.1(VDR): c.915C> G (p.His305Gln) single nucleotide variant Pathogenic rs121909798 GRCh38 Chromosome 12, 47846444: 47846444
19 VDR NM_001017535.1(VDR): c.941T> G (p.Ile314Ser) single nucleotide variant Pathogenic rs121909799 GRCh37 Chromosome 12, 48240201: 48240201
20 VDR NM_001017535.1(VDR): c.941T> G (p.Ile314Ser) single nucleotide variant Pathogenic rs121909799 GRCh38 Chromosome 12, 47846418: 47846418
21 VDR NM_001017535.1(VDR): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs121909800 GRCh37 Chromosome 12, 48238642: 48238642
22 VDR NM_001017535.1(VDR): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs121909800 GRCh38 Chromosome 12, 47844859: 47844859
23 VDR NM_001017535.1(VDR): c.88C> T (p.Arg30Ter) single nucleotide variant Pathogenic rs121909801 GRCh37 Chromosome 12, 48272809: 48272809
24 VDR NM_001017535.1(VDR): c.88C> T (p.Arg30Ter) single nucleotide variant Pathogenic rs121909801 GRCh38 Chromosome 12, 47879026: 47879026
25 VDR VDR, 1-BP DEL, 366C deletion Pathogenic
26 VDR NM_001017535.1(VDR): c.1036G> A (p.Val346Met) single nucleotide variant Pathogenic rs267607169 GRCh37 Chromosome 12, 48238777: 48238777
27 VDR NM_001017535.1(VDR): c.1036G> A (p.Val346Met) single nucleotide variant Pathogenic rs267607169 GRCh38 Chromosome 12, 47844994: 47844994
28 VDR NM_001017535.1(VDR): c.1190A> C (p.His397Pro) single nucleotide variant Pathogenic rs886037890 GRCh37 Chromosome 12, 48238623: 48238623
29 VDR NM_001017535.1(VDR): c.1190A> C (p.His397Pro) single nucleotide variant Pathogenic rs886037890 GRCh38 Chromosome 12, 47844840: 47844840
30 VDR NM_001017535.1(VDR): c.1171C> A (p.Arg391Ser) single nucleotide variant Pathogenic rs121909800 GRCh37 Chromosome 12, 48238642: 48238642
31 VDR NM_001017535.1(VDR): c.1171C> A (p.Arg391Ser) single nucleotide variant Pathogenic rs121909800 GRCh38 Chromosome 12, 47844859: 47844859

Expression for Vitamin D-Dependent Rickets, Type 2a

Search GEO for disease gene expression data for Vitamin D-Dependent Rickets, Type 2a.

Pathways for Vitamin D-Dependent Rickets, Type 2a

Pathways related to Vitamin D-Dependent Rickets, Type 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.62 CYP27B1 VDR
2 11.35 CYP27B1 VDR
3
Show member pathways
11.21 NR1H2 VDR
4 10.81 CYP27B1 VDR
5 10.5 CYP27B1 VDR
6 9.62 CYP27B1 VDR

GO Terms for Vitamin D-Dependent Rickets, Type 2a

Cellular components related to Vitamin D-Dependent Rickets, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 NR1H2 VDR

Biological processes related to Vitamin D-Dependent Rickets, Type 2a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.49 NR1H2 VDR
2 calcium ion transport GO:0006816 9.48 CYP27B1 VDR
3 cellular response to lipopolysaccharide GO:0071222 9.46 NR1H2 VDR
4 cholesterol homeostasis GO:0042632 9.43 NR1H2 VDR
5 steroid hormone mediated signaling pathway GO:0043401 9.4 NR1H2 VDR
6 lipid homeostasis GO:0055088 9.37 NR1H2 VDR
7 response to lipid GO:0033993 9.32 NR1H2 VDR
8 decidualization GO:0046697 9.26 CYP27B1 VDR
9 positive regulation of keratinocyte differentiation GO:0045618 9.16 CYP27B1 VDR
10 vitamin D metabolic process GO:0042359 8.96 CYP27B1 VDR
11 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.62 CYP27B1 VDR

Molecular functions related to Vitamin D-Dependent Rickets, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.48 NR1H2 VDR
2 lipid binding GO:0008289 9.46 NR1H2 VDR
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.43 NR1H2 VDR
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.4 NR1H2 VDR
5 ligand-dependent nuclear receptor transcription coactivator activity GO:0030374 9.37 NR1H2 VDR
6 steroid hormone receptor activity GO:0003707 9.32 NR1H2 VDR
7 nuclear receptor activity GO:0004879 9.26 NR1H2 VDR
8 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.16 NR1H2 VDR
9 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 8.96 NR1H2 VDR
10 retinoid X receptor binding GO:0046965 8.62 NR1H2 VDR

Sources for Vitamin D-Dependent Rickets, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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