VDDR2A
MCID: VTM027
MIFTS: 54

Vitamin D-Dependent Rickets, Type 2a (VDDR2A)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic 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 39 70
Hvdrr 57 58 72 54
Generalized Resistance to 1,25-Dihydroxyvitamin D 57 72 6
Hypocalcemic Vitamin D-Resistant Rickets 57 58 72
Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol 57 72
Rickets, Hereditary Vitamin D-Resistant 57 70
Rickets, Vitamin D-Resistant, Type Iia 57 13
Vitamin D-Dependent Rickets, Type 2 29 6
Rickets-Alopecia Syndrome 57 72
Pddr Iia 57 72
Vddr2a 57 72
Vitamin D-Dependent Rickets, Type 2a, with or Without Alopecia 57
Vitamin D-Dependent Rickets Type 2a with or Without Alopecia 72
Rickets, Hereditary Vitamin D-Resistant; Hvdrr 57
Hypophosphatemic Rickets, X-Linked Dominant 70
Hereditary Vitamin D-Resistant Rickets 58
Rickets Hereditary Vitamin D-Resistant 72
Pseudovitamin D-Deficiency, Type Iia 57
Vitamin D-Dependent Rickets, Type Ii 54
Generalized 1,25-Dihydroxyvitamin D 57
Vitamin D-Dependent Rickets Type 2a 12
Vitamin D-Dependent Rickets Type Ii 58
Vitamin D-Resistant Rickets Type Ii 58
Pseudovitamin D-Deficiency Type Iia 72
Familial Hypophosphatemic Rickets 70
Rickets Vitamin D-Dependent 2a 72
Type Iia Rickets 72
Vddr Ii 58
Vdrr Ii 58

Characteristics:

Orphanet epidemiological data:

58
hypocalcemic vitamin d-resistant rickets
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
vitamin d-dependent rickets, type 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

MalaCards based summary : Vitamin D-Dependent Rickets, Type 2a, also known as hvdrr, is related to hyperphosphatemia and osteomalacia, and has symptoms including muscle weakness, arthralgia and bone pain. 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 Calcitriol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and colon, and related phenotypes are hypophosphatemia and hyperparathyroidism

Disease Ontology : 12 A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has material basis in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Vitamin D-Dependent Rickets family:

Vitamin D-Dependent Rickets, Type 2a Vitamin D-Dependent Rickets, Type 3
Vitamin D-Dependent Rickets Type 2b

Diseases related to Vitamin D-Dependent Rickets, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatemia 30.1 VDR PHEX
2 osteomalacia 30.0 VDR PHEX CYP27B1
3 hypocalcemia, autosomal dominant 1 29.8 VDR CYP27B1
4 secondary hyperparathyroidism 29.7 VDR PHEX CYP27B1
5 hyperparathyroidism 29.7 VDR PHEX CYP27B1
6 vitamin d-dependent rickets 29.6 VDR PTCHD1-AS PHEX CYP27B1
7 rickets 29.6 VDR PTCHD1-AS PHEX CYP27B1
8 hypophosphatemic rickets, x-linked recessive 29.2 VDR PTCHD1-AS PHEX CYP27B1
9 hypophosphatemia 29.2 VDR PHEX CYP27B1
10 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 11.5
11 alopecia 10.5
12 autosomal recessive disease 10.4
13 aminoaciduria 10.3
14 epidermolytic hyperkeratosis 10.3
15 ichthyosis 10.3
16 bone disease 10.2
17 b-lymphoblastic leukemia/lymphoma 10.2
18 alopecia totalis 10.2
19 hereditary hypophosphatemic rickets 10.2
20 basal ganglia calcification 10.2
21 myelofibrosis 10.2
22 bone resorption disease 10.2
23 hypoparathyroidism 10.2
24 nephrocalcinosis 10.2
25 renal tubular acidosis 10.2
26 dental caries 10.2
27 osteitis fibrosa 10.2
28 bone inflammation disease 10.2
29 hair disease 10.2
30 myopathy 10.2
31 alopecia areata 10.2
32 47,xyy 10.2
33 tremor 10.2
34 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
35 persistent mullerian duct syndrome 10.2
36 hypervitaminosis d 9.8 VDR CYP27B1
37 colon sarcoma 9.8 VDR CYP27B1
38 parathyroid gland disease 9.8 VDR CYP27B1
39 hypophosphatemic rickets, autosomal dominant 9.8 PHEX CYP27B1
40 autosomal recessive hypophosphatemic rickets 9.8 PHEX CYP27B1
41 cerebrotendinous xanthomatosis 9.7 NR1H2 CYP27B1
42 tumoral calcinosis, hyperphosphatemic, familial, 1 9.7 PHEX CYP27B1
43 leprosy 3 9.7 VDR CYP27B1
44 primary hyperparathyroidism 9.6 VDR CYP27B1
45 phosphorus metabolism disease 9.6 VDR PHEX CYP27B1
46 mineral metabolism disease 9.6 VDR PHEX CYP27B1
47 bone remodeling disease 9.5 VDR PHEX CYP27B1
48 graves' disease 9.5 VDR CYP27B1
49 hypophosphatemic rickets, x-linked dominant 9.4 PTCHD1-AS PHEX CYP27B1

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

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

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
2 hyperparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000843
3 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
4 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
5 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
6 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
7 bone cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0012062
8 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
9 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
10 coarse metaphyseal trabecularization 31 hallmark (90%) HP:0100670
11 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
14 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
15 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
16 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
17 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
18 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
19 abnormality of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000951
20 abnormal adipose tissue morphology 58 31 frequent (33%) Frequent (79-30%) HP:0009124
21 premature loss of primary teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006323
22 abnormal thorax morphology 31 frequent (33%) HP:0000765
23 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
24 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
25 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
26 failure to thrive 31 HP:0001508
27 abnormality of the dentition 58 Occasional (29-5%)
28 carious teeth 31 HP:0000670
29 rickets 31 HP:0002748
30 abnormality of the metaphysis 58 Frequent (79-30%)
31 growth delay 31 HP:0001510
32 irritability 31 HP:0000737
33 motor delay 31 HP:0001270
34 delayed eruption of teeth 31 HP:0000684
35 flat occiput 31 HP:0005469
36 abnormality of the thorax 58 Frequent (79-30%)
37 rough bone trabeculation 58 Very frequent (99-80%)
38 femoral bowing 31 HP:0002980
39 protuberant abdomen 31 HP:0001538
40 abnormal bone structure 58 Very frequent (99-80%)
41 generalized hypotonia 31 HP:0001290
42 abdominal wall muscle weakness 31 HP:0009023
43 tibial bowing 31 HP:0002982
44 difficulty walking 31 HP:0002355
45 alopecia universalis 31 HP:0002289
46 hypoplasia of dental enamel 31 HP:0006297
47 fibular bowing 31 HP:0010502
48 metaphyseal irregularity 31 HP:0003025
49 bowing of the legs 31 HP:0002979
50 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
growth retardation
poor growth

Muscle Soft Tissue:
muscle weakness
difficulty walking
difficulty standing
hypotonia

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

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

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

Head And Neck Head:
frontal bossing

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

Neurologic Central Nervous System:
delayed motor development
seizures due to hypocalcemia

Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

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 (Updated 20-May-2021)

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


muscle weakness; arthralgia; bone pain; difficulty standing

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
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3 Hormones Phase 4
4 Calcium, Dietary Phase 4
5 Micronutrients Phase 4
6 Trace Elements Phase 4
7 Nutrients Phase 4
8 Vasoconstrictor Agents Phase 4
9 Calciferol Phase 4
10 Vitamins Phase 4
11 Mitogens Phase 4
12 Immunoglobulins Phase 4
13 Antibodies Phase 4
14 Antibodies, Monoclonal Phase 4
15 Immunologic Factors Phase 4
16
Calcium Nutraceutical Phase 4 7440-70-2 271
17
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
18 Pharmaceutical Solutions Phase 3
19 Hormone Antagonists Phase 1, Phase 2
20
Sevelamer Approved 52757-95-6
21
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
22
Iron Approved 7439-89-6 23925 29936
23
Ferrous gluconate Approved 299-29-6
24
Sodium citrate Approved, Investigational 68-04-2
25
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
26
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
27
Calcitonin gene-related peptide Investigational 83652-28-2
28 Hydroxycholecalciferols
29 Chelating Agents
30 Vasodilator Agents
31 Katacalcin
32 calcitonin
33 Neurotransmitter Agents
34 Respiratory System Agents
35 Cholinergic Agents
36 Methacholine Chloride
37 Muscarinic Agonists
38 Hematinics
39 Iron Supplement
40 Dihydroxycholecalciferols Early Phase 1
41 Citrate

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Comparing the Effectiveness of High or Low Dose of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
2 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Recruiting NCT04419363 Phase 4 Burosumab Injection
3 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
4 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Completed NCT03581591 Phase 3
5 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study With Open-Label Extension to Assess the Efficacy and Safety of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
6 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
7 An Open-Label, Single-Arm, Phase 3 Study to Evaluate the Effects of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
8 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
9 A Randomized, Open-Label, Phase 3 Study to Assess the Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Completed NCT02915705 Phase 3 Oral Phosphate Supplement;active vitamin D
10 A Phase 3 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT03233126 Phase 3 KRN23
11 An Investigator-sponsored Phase 3b Open-label Study of Anti- FGF23 Antibody Burosumab (KRN23) in Adult Patients With Xlinked Hypophosphatemia (XLH) in GERmany - BurGER Recruiting NCT04695860 Phase 3 Burosumab
12 A Phase 3b Open-label Study of the Anti-FGF23 Antibody, Burosumab (KRN23) in Adult Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03920072 Phase 3 Burosumab
13 A Phase 3 Long-term Extension Study of KRN23 in Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT04308096 Phase 3 KRN23
14 An Open-Label, Long-Term, Extension Study to Evaluate the Safety and Efficacy of KRN23 in Adult Subjects With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
15 Proposition Pour un Traitement Par Hormone de Croissance Des Enfants Atteints de Rachitisme Hypophosphatemique Familial Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
16 An Open-Label, Phase 2 Study to Assess the Safety, Pharmacodynamics, and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Completed NCT02750618 Phase 2
17 A Phase I/II, Open-Label, Repeat-Dose, Dose-Escalation Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
18 A Phase 2b, Open-Label, Long-Term Extension Study to Evaluate the Safety and Pharmacodynamics of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
19 A Randomized, Open-Label, Dose Finding, Phase 2 Study to Assess the Pharmacodynamics and Safety of the Anti-FGF23 Antibody, KRN23, in Pediatric Patients With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
20 A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients From Birth to Less Than 1 Year of Age With X-linked Hypophosphatemia (XLH) Recruiting NCT04188964 Phase 1, Phase 2 Burosumab
21 Effects of Growth Hormone Treatment on Body Proportions and Final Height Among Small Children With X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
22 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Completed NCT00195936 Phase 1 Cinacalcet
23 A Phase I, Double-blind, Randomized, Placebo-controlled, Single-dose, Dose-escalation Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
24 A Phase 1, Multicenter, Open-label, Sequential Dose-escalation, Single-dose Study to Assess the Safety and Tolerability of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia. Completed NCT02181764 Phase 1 KRN23
25 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Unknown status NCT03758534
26 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
27 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 nasal salmon calcitonin;Saline Nasal Spray Placebo
28 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Completed NCT03478839
29 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824
30 X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21? Completed NCT03596554
31 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
32 Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives From Patients and Parents Who Speak English, French or German Completed NCT04372446
33 Milk Products in the Treatment of Hypophosphatemic Rickets: A Randomised Crossover Trial Completed NCT03348644
34 Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters Recruiting NCT03748966 Early Phase 1 Calcitriol
35 Interplay of FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
36 Characterising Pain, Quality of Life, Body Composition, Arterial Stiffness, Muscle Function, Bone Density and Geometry in Adult Persons With Hereditary Hypophosphatemia and Healthy Controls Recruiting NCT04273490
37 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoclasts From Patients With Hypophosphatemic Rickets (HR) Recruiting NCT04184661
38 An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia Recruiting NCT03745521
39 X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP) Recruiting NCT03651505
40 Dental Implants in Patients With X-linked Hypophosphatemia Recruiting NCT03879915
41 An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-linked Hypophosphatemia (XLH) Recruiting NCT03193476
42 Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH) Active, not recruiting NCT04049877
43 Expanded Access to Burosumab Available NCT03775187
44 A UK Multicentre, Non-interventional, Observational, Health-Related Quality of Life Study for Children and Adolescents With X-linked Hypophosphataemia Not yet recruiting NCT04819490
45 Effect of Cinacalcet on the Long-term Treatment of Familial Hypophosphatemic Rickets Withdrawn NCT00844740 Cinacalcet

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

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

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

40
Bone, Cortex, Colon, Skin

Publications for Vitamin D-Dependent Rickets, Type 2a

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

(show top 50) (show all 139)
# Title Authors PMID Year
1
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. 54 61 57 6
9005998 1997
2
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. 6 57
17970811 2008
3
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. 57 6
8392085 1993
4
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. 6 57
2849209 1988
5
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. 57 6
3024987 1986
6
Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. 61 6 54
9495519 1998
7
A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets. 6 54 61
9360557 1997
8
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. 61 6 54
8675579 1996
9
The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. 54 6 61
2174914 1990
10
Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. 6 54
8961271 1996
11
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. 6
11564167 2001
12
Lack of relationship between vitamin D receptor genotype and forearm bone gain in healthy children, adolescents, and young adults. 57
9062495 1997
13
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents. 6
8862631 1996
14
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. 6
1652893 1991
15
A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3. 6
2177843 1990
16
An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. 6
2557627 1989
17
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. 6
2558018 1989
18
Rickets with alopecia-remission following a course of 1-alpha-hydroxy vitamin D3 therapy. 57
2551693 1989
19
Selective expression of a normal action of the 1,25-dihydroxyvitamin D3 receptor in human skin fibroblasts with hereditary severe defects in multiple actions of that receptor. 57
2542381 1989
20
ApaI dimorphism at the human vitamin D receptor gene locus. 57
2564666 1989
21
Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. 57
2537329 1989
22
Cloning and expression of full-length cDNA encoding human vitamin D receptor. 57
2835767 1988
23
Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D. 57
3040300 1986
24
Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. 57
3009551 1986
25
Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes. 57
3011315 1986
26
Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of hormone-receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation. 57
2999175 1986
27
Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts. 57
3872316 1985
28
Vitamin D3--resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors. 57
6326262 1984
29
Hereditary resistance to 1,25-dihydroxyvitamin D. 57
6091196 1984
30
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. 57
6313754 1983
31
Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts. 57
6296200 1983
32
Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3. 57
6288751 1982
33
Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D. 57
7318845 1981
34
A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts. 57
6262646 1981
35
Normal intrauterine development of the fetus of a woman receiving extraordinarily high doses of 1,25-dihydroxyvitamin D3. 57
6893458 1980
36
An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D. 57
6252222 1980
37
Vitamin D--resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3. 57
6244382 1980
38
End-organ resistance to 1,25-dihydroxycholecalciferol. 57
6102232 1980
39
Vitamin D-dependent rickets type II. 57
6770981 1980
40
An unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D. 57
313402 1979
41
Rickets with alopecia: an inborn error of vitamin D metabolism. 57
221630 1979
42
A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. 57
233695 1978
43
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. 57
205789 1978
44
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. 54 61
19815438 2010
45
Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 54 61
19049339 2009
46
A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. 61 54
17078924 2007
47
Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers. 61 54
17106204 2007
48
Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein. 61 54
17071612 2006
49
Vitamin D receptor defects: the story of hereditary resistance to vitamin D. 54 61
17551468 2006
50
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. 61 54
16753019 2006

Variations for Vitamin D-Dependent Rickets, Type 2a

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

6 (show top 50) (show all 144)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VDR NM_000376.3(VDR):c.98G>A (p.Gly33Asp) SNV Pathogenic 7745 rs121909790 GRCh37: 12:48272799-48272799
GRCh38: 12:47879016-47879016
2 VDR NM_000376.3(VDR):c.218G>A (p.Arg73Gln) SNV Pathogenic 7746 rs121909791 GRCh37: 12:48258889-48258889
GRCh38: 12:47865106-47865106
3 VDR NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) SNV Pathogenic 7747 rs121909792 GRCh37: 12:48240462-48240462
GRCh38: 12:47846679-47846679
4 VDR NM_000376.3(VDR):c.985G>A (p.Glu329Lys) SNV Pathogenic 7748 rs121909802 GRCh37: 12:48240157-48240157
GRCh38: 12:47846374-47846374
5 VDR NM_000376.3(VDR):c.239G>A (p.Arg80Gln) SNV Pathogenic 7749 rs121909793 GRCh37: 12:48258868-48258868
GRCh38: 12:47865085-47865085
6 VDR NM_000376.3(VDR):c.149G>A (p.Arg50Gln) SNV Pathogenic 7750 rs121909794 GRCh37: 12:48258958-48258958
GRCh38: 12:47865175-47865175
7 VDR NM_000376.3(VDR):c.454C>T (p.Gln152Ter) SNV Pathogenic 7751 rs121909795 GRCh37: 12:48251295-48251295
GRCh38: 12:47857512-47857512
8 VDR NM_000376.3(VDR):c.821G>T (p.Arg274Leu) SNV Pathogenic 7752 rs121909796 GRCh37: 12:48240526-48240526
GRCh38: 12:47846743-47846743
9 VDR NM_000376.3(VDR):c.137G>A (p.Gly46Asp) SNV Pathogenic 7753 rs121909797 GRCh37: 12:48272760-48272760
GRCh38: 12:47878977-47878977
10 VDR NM_000376.3(VDR):c.915C>G (p.His305Gln) SNV Pathogenic 7754 rs121909798 GRCh37: 12:48240227-48240227
GRCh38: 12:47846444-47846444
11 VDR NM_000376.3(VDR):c.941T>G (p.Ile314Ser) SNV Pathogenic 7755 rs121909799 GRCh37: 12:48240201-48240201
GRCh38: 12:47846418-47846418
12 VDR NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) SNV Pathogenic 7756 rs121909800 GRCh37: 12:48238642-48238642
GRCh38: 12:47844859-47844859
13 VDR NM_000376.3(VDR):c.88C>T (p.Arg30Ter) SNV Pathogenic 7757 rs121909801 GRCh37: 12:48272809-48272809
GRCh38: 12:47879026-47879026
14 VDR NM_000376.3(VDR):c.366del (p.Lys123fs) Deletion Pathogenic 7758 rs1592107753 GRCh37: 12:48251383-48251383
GRCh38: 12:47857600-47857600
15 VDR NM_000376.3(VDR):c.1036G>A (p.Val346Met) SNV Pathogenic 7759 rs267607169 GRCh37: 12:48238777-48238777
GRCh38: 12:47844994-47844994
16 VDR NM_000376.3(VDR):c.1190A>C (p.His397Pro) SNV Pathogenic 264697 rs886037890 GRCh37: 12:48238623-48238623
GRCh38: 12:47844840-47844840
17 VDR NM_000376.3(VDR):c.1171C>A (p.Arg391Ser) SNV Pathogenic 264696 rs121909800 GRCh37: 12:48238642-48238642
GRCh38: 12:47844859-47844859
18 VDR NM_000376.3(VDR):c.146+2T>A SNV Pathogenic 1028945 GRCh37: 12:48272749-48272749
GRCh38: 12:47878966-47878966
19 PTCHD1-AS , PHEX NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) SNV Likely pathogenic 226119 rs875989883 GRCh37: X:22237187-22237187
GRCh38: X:22219070-22219070
20 VDR NM_000376.3(VDR):c.1183G>C (p.Glu395Gln) SNV Uncertain significance 882309 GRCh37: 12:48238630-48238630
GRCh38: 12:47844847-47844847
21 VDR NM_000376.3(VDR):c.64C>T (p.Arg22Trp) SNV Uncertain significance 882354 GRCh37: 12:48272833-48272833
GRCh38: 12:47879050-47879050
22 VDR NM_000376.3(VDR):c.*967C>A SNV Uncertain significance 882261 GRCh37: 12:48237562-48237562
GRCh38: 12:47843779-47843779
23 VDR NM_000376.3(VDR):c.*71G>A SNV Uncertain significance 882307 GRCh37: 12:48238458-48238458
GRCh38: 12:47844675-47844675
24 VDR NM_000376.3(VDR):c.*51G>A SNV Uncertain significance 882308 GRCh37: 12:48238478-48238478
GRCh38: 12:47844695-47844695
25 VDR NM_000376.3(VDR):c.14C>T (p.Ala5Val) SNV Uncertain significance 882357 GRCh37: 12:48272883-48272883
GRCh38: 12:47879100-47879100
26 VDR NM_000376.3(VDR):c.*2127C>T SNV Uncertain significance 882463 GRCh37: 12:48236402-48236402
GRCh38: 12:47842619-47842619
27 VDR NM_000376.3(VDR):c.*2047G>A SNV Uncertain significance 882464 GRCh37: 12:48236482-48236482
GRCh38: 12:47842699-47842699
28 VDR NM_000376.3(VDR):c.*843C>T SNV Uncertain significance 882522 GRCh37: 12:48237686-48237686
GRCh38: 12:47843903-47843903
29 VDR NM_000376.3(VDR):c.*773T>G SNV Uncertain significance 882523 GRCh37: 12:48237756-48237756
GRCh38: 12:47843973-47843973
30 VDR NM_000376.3(VDR):c.*623A>G SNV Uncertain significance 882524 GRCh37: 12:48237906-48237906
GRCh38: 12:47844123-47844123
31 VDR NM_000376.3(VDR):c.*601C>T SNV Uncertain significance 882525 GRCh37: 12:48237928-48237928
GRCh38: 12:47844145-47844145
32 VDR NM_000376.3(VDR):c.*1805A>T SNV Uncertain significance 308843 rs886049426 GRCh37: 12:48236724-48236724
GRCh38: 12:47842941-47842941
33 VDR NM_000376.3(VDR):c.*534T>C SNV Uncertain significance 308860 rs886049431 GRCh37: 12:48237995-48237995
GRCh38: 12:47844212-47844212
34 VDR NM_000376.3(VDR):c.*1477C>T SNV Uncertain significance 308846 rs11574132 GRCh37: 12:48237052-48237052
GRCh38: 12:47843269-47843269
35 VDR NM_000376.3(VDR):c.*2832C>T SNV Uncertain significance 880825 GRCh37: 12:48235697-48235697
GRCh38: 12:47841914-47841914
36 VDR NM_000376.3(VDR):c.*2545G>T SNV Uncertain significance 880826 GRCh37: 12:48235984-48235984
GRCh38: 12:47842201-47842201
37 VDR NM_000376.3(VDR):c.*2529G>A SNV Uncertain significance 880827 GRCh37: 12:48236000-48236000
GRCh38: 12:47842217-47842217
38 VDR NM_000376.3(VDR):c.*2491A>C SNV Uncertain significance 880828 GRCh37: 12:48236038-48236038
GRCh38: 12:47842255-47842255
39 VDR NM_000376.3(VDR):c.*2464C>G SNV Uncertain significance 880829 GRCh37: 12:48236065-48236065
GRCh38: 12:47842282-47842282
40 VDR NM_000376.3(VDR):c.*1505G>A SNV Uncertain significance 880886 GRCh37: 12:48237024-48237024
GRCh38: 12:47843241-47843241
41 VDR NM_000376.3(VDR):c.*1437G>C SNV Uncertain significance 880888 GRCh37: 12:48237092-48237092
GRCh38: 12:47843309-47843309
42 VDR NM_000376.3(VDR):c.*404C>T SNV Uncertain significance 880947 GRCh37: 12:48238125-48238125
GRCh38: 12:47844342-47844342
43 VDR NM_000376.3(VDR):c.*222G>C SNV Uncertain significance 880948 GRCh37: 12:48238307-48238307
GRCh38: 12:47844524-47844524
44 VDR NM_000376.3(VDR):c.429C>T (p.Tyr143=) SNV Uncertain significance 733434 rs140864473 GRCh37: 12:48251320-48251320
GRCh38: 12:47857537-47857537
45 VDR NM_000376.3(VDR):c.362G>A (p.Arg121Gln) SNV Uncertain significance 880995 GRCh37: 12:48251387-48251387
GRCh38: 12:47857604-47857604
46 VDR NM_000376.3(VDR):c.311G>A (p.Arg104Gln) SNV Uncertain significance 880996 GRCh37: 12:48251438-48251438
GRCh38: 12:47857655-47857655
47 VDR NM_000376.3(VDR):c.274G>A (p.Glu92Lys) SNV Uncertain significance 880997 GRCh37: 12:48258833-48258833
GRCh38: 12:47865050-47865050
48 VDR NM_000376.3(VDR):c.221G>A (p.Arg74His) SNV Uncertain significance 880998 GRCh37: 12:48258886-48258886
GRCh38: 12:47865103-47865103
49 VDR NM_000376.3(VDR):c.65G>A (p.Arg22Gln) SNV Uncertain significance 880999 GRCh37: 12:48272832-48272832
GRCh38: 12:47879049-47879049
50 VDR NM_000376.3(VDR):c.*2446G>A SNV Uncertain significance 882216 GRCh37: 12:48236083-48236083
GRCh38: 12:47842300-47842300

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

72 (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

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 VDR CYP27B1
2 11.35 VDR CYP27B1
3
Show member pathways
11.21 VDR NR1H2
4 10.81 VDR CYP27B1
5 10.5 VDR CYP27B1
6 9.62 VDR CYP27B1

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

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

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.48 VDR NR1H2
2 skeletal system development GO:0001501 9.46 VDR PHEX
3 calcium ion transport GO:0006816 9.43 VDR CYP27B1
4 bone mineralization GO:0030282 9.4 PHEX CYP27B1
5 intracellular receptor signaling pathway GO:0030522 9.37 VDR NR1H2
6 decidualization GO:0046697 9.32 VDR CYP27B1
7 positive regulation of keratinocyte differentiation GO:0045618 9.26 VDR CYP27B1
8 response to vitamin D GO:0033280 9.16 PHEX CYP27B1
9 vitamin D metabolic process GO:0042359 8.96 VDR CYP27B1
10 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.62 VDR CYP27B1

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.33 VDR PHEX NR1H2
2 nuclear receptor activity GO:0004879 8.96 VDR NR1H2
3 retinoid X receptor binding GO:0046965 8.62 VDR NR1H2

Sources for Vitamin D-Dependent Rickets, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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