VDDR2A
MCID: VTM027
MIFTS: 56

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

Categories: 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 58 41 74
Hvdrr 58 60 76 56
Hypocalcemic Vitamin D-Resistant Rickets 58 60 76
Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol 58 76
Generalized Resistance to 1,25-Dihydroxyvitamin D 58 76
Rickets, Hereditary Vitamin D-Resistant 58 74
Rickets, Vitamin D-Resistant, Type Iia 58 13
Vitamin D-Dependent Rickets, Type 2 30 6
Rickets-Alopecia Syndrome 58 76
Pddr Iia 58 76
Vddr2a 58 76
Vitamin D-Dependent Rickets, Type 2a, with or Without Alopecia 58
Vitamin D-Dependent Rickets Type 2a with or Without Alopecia 76
Rickets, Hereditary Vitamin D-Resistant; Hvdrr 58
Hypophosphatemic Rickets, X-Linked Dominant 74
Hereditary Vitamin D-Resistant Rickets 60
Rickets Hereditary Vitamin D-Resistant 76
Pseudovitamin D-Deficiency, Type Iia 58
Vitamin D-Dependent Rickets, Type Ii 56
Generalized 1,25-Dihydroxyvitamin D 58
Vitamin D-Dependent Rickets Type Ii 60
Vitamin D-Resistant Rickets Type Ii 60
Pseudovitamin D-Deficiency Type Iia 76
Familial Hypophosphatemic Rickets 74
Rickets Vitamin D-Dependent 2a 76
Type Iia Rickets 76
Vddr Ii 60
Vdrr Ii 60

Characteristics:

Orphanet epidemiological data:

60
hypocalcemic vitamin d-resistant rickets
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
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 : 58 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, 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 Calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and cortex, and related phenotypes are joint dislocation and hypophosphatemia

UniProtKB/Swiss-Prot : 76 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

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

60 33 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001373
2 hypophosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002148
3 hypocalcemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002901
4 hyperparathyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000843
5 osteomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002749
6 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
7 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
8 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
9 bone cyst 60 33 hallmark (90%) Very frequent (99-80%) HP:0012062
10 rough bone trabeculation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100670
11 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
12 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
13 abnormality of the metaphysis 60 33 frequent (33%) Frequent (79-30%) HP:0000944
14 abnormality of the thorax 60 33 frequent (33%) Frequent (79-30%) HP:0000765
15 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
16 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
17 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272
18 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
19 genu varum 60 33 frequent (33%) Frequent (79-30%) HP:0002970
20 nephrolithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0000787
21 abnormality of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0000951
22 premature loss of primary teeth 60 33 frequent (33%) Frequent (79-30%) HP:0006323
23 abnormal adipose tissue morphology 33 frequent (33%) HP:0009124
24 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
25 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
26 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
27 muscular hypotonia 33 HP:0001252
28 failure to thrive 33 HP:0001508
29 abnormality of the dentition 60 Occasional (29-5%)
30 carious teeth 33 HP:0000670
31 rickets 33 HP:0002748
32 abdominal wall muscle weakness 33 HP:0009023
33 irritability 33 HP:0000737
34 delayed eruption of teeth 33 HP:0000684
35 growth delay 33 HP:0001510
36 motor delay 33 HP:0001270
37 flat occiput 33 HP:0005469
38 elevated circulating parathyroid hormone level 33 HP:0003165
39 difficulty walking 33 HP:0002355
40 generalized hypotonia 33 HP:0001290
41 femoral bowing 33 HP:0002980
42 abnormal bone structure 60 Very frequent (99-80%)
43 elevated alkaline phosphatase 33 HP:0003155
44 abnormality of adipose tissue 60 Frequent (79-30%)
45 tibial bowing 33 HP:0002982
46 alopecia universalis 33 HP:0002289
47 bowing of the legs 33 HP:0002979
48 hypoplasia of dental enamel 33 HP:0006297
49 widely patent fontanelles and sutures 33 HP:0004492
50 secondary hyperparathyroidism 33 HP:0000867

Symptoms via clinical synopsis from OMIM:

58
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

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


muscle weakness, arthralgia, bone pain, difficulty standing

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.78 CYP27B1 NR1H2 PHEX VDR
2 cellular MP:0005384 9.73 CYP27B1 NR1H2 PHEX VDR
3 endocrine/exocrine gland MP:0005379 9.67 CYP27B1 NR1H2 PHEX VDR
4 cardiovascular system MP:0005385 9.63 NR1H2 PHEX VDR
5 hematopoietic system MP:0005397 9.62 CYP27B1 NR1H2 PHEX VDR
6 craniofacial MP:0005382 9.58 CYP27B1 PHEX VDR
7 immune system MP:0005387 9.56 CYP27B1 NR1H2 PHEX VDR
8 limbs/digits/tail MP:0005371 9.33 CYP27B1 PHEX VDR
9 renal/urinary system MP:0005367 9.13 CYP27B1 PHEX VDR
10 skeleton MP:0005390 8.92 CYP27B1 NR1H2 PHEX VDR

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 top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcitriol Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 32222-06-3 5280453 134070
2
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 7440-70-2 271
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 1406-16-2
4 Vitamins Phase 4,Phase 3,Not Applicable,Early Phase 1
5 Calcium, Dietary Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1
6 Trace Elements Phase 4,Phase 3,Not Applicable,Early Phase 1
7 Micronutrients Phase 4,Phase 3,Not Applicable,Early Phase 1
8 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable,Early Phase 1
9 Nutrients Phase 4,Phase 3,Not Applicable,Early Phase 1
10 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Calciferol Phase 4,Phase 3,Not Applicable,Early Phase 1
12 Vasoconstrictor Agents Phase 4,Early Phase 1
13
Parathyroid hormone Approved, Investigational Phase 3,Phase 1 9002-64-6
14
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
15 Mitogens Phase 3,Phase 2,Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
17 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
18 Pharmaceutical Solutions Phase 3,Phase 2
19 Ergocalciferols Phase 3,Not Applicable
20 Vitamin D2 Phase 3,Not Applicable
21 Antibodies, Monoclonal Phase 3,Phase 2
22 Immunologic Factors Phase 3,Phase 2
23 Immunoglobulins Phase 3,Phase 2
24 Antibodies Phase 3,Phase 2
25 Immunoglobulin G Phase 2
26
Cinacalcet Approved Phase 1,Not Applicable 226256-56-0 156419
27 Calcimimetic Agents Phase 1,Not Applicable
28
Sevelamer Approved 52757-95-6
29
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
30
leucovorin Approved Not Applicable 58-05-9 143 6006
31
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
32
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
33
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
34
Ferrous gluconate Approved Not Applicable 299-29-6
35
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
36
Teriparatide Approved, Investigational 52232-67-4 16133850
37
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
38
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
39
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 70-16-6, 59-43-8 1130
40
Vitamin D3 Approved, Nutraceutical Not Applicable 67-97-0 5280795 6221
41
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
42
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
43
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
44
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
45
Cobalamin Experimental Not Applicable 13408-78-1 6857388
46 Hydroxycholecalciferols
47 Chelating Agents
48 Peripheral Nervous System Agents Not Applicable
49 Respiratory System Agents Not Applicable
50 Neurotransmitter Agents Not Applicable

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia Recruiting NCT03820518 Phase 4 Calcitriol
2 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
3 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
4 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02526160 Phase 3
5 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
6 Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH Recruiting NCT03920072 Phase 3 Burosumab
7 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
8 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
9 Efficacy and Safety of Burosumab (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
10 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
11 Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Completed NCT02163577 Phase 2
12 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Completed NCT02312687 Phase 2
13 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
14 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
15 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
16 Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
17 Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
18 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
19 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
20 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
21 Calcimimetics in Hypophosphatemic Rickets Unknown status NCT00844740 Not Applicable Cinacalcet
22 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
23 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304
24 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
25 Milk Products in the Treatment of Hypophosphatemic Rickets Completed NCT03348644 Not Applicable
26 Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients Completed NCT01578824 Not Applicable
27 Calcitonin for Treating X-linked Hypophosphatemia Completed NCT01652573 Not Applicable nasal salmon calcitonin;Saline Nasal Spray Placebo
28 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
29 Magnesium Treatment on Vitamin D Metabolism in Participants Completed Personalized Prevention of Colorectal Cancer Trial Completed NCT03265483 Not Applicable
30 Effect of Vitamin D3 Supplementation in Children From 12 to 30 Months of Age. Completed NCT03544671 Not Applicable
31 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521
32 X-linked Hypophosphatemia Disease Monitoring Program Recruiting NCT03651505
33 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322 Not Applicable
34 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
35 Calcitriol Monotherapy for X-Linked Hypophosphatemia Recruiting NCT03748966 Early Phase 1 Calcitriol
36 Registry for Patients With X-linked Hypophosphatemia Recruiting NCT03193476
37 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
38 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
39 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679
40 Individual Patient Compassionate Use of Burosumab Available NCT03775187
41 Dental Implants in Patients With X-linked Hypophosphatemia Not yet recruiting NCT03879915
42 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
43 X-linked Hypophosphatemia and FGF21 Not yet recruiting NCT03596554
44 Hypocalcemia in Infants and Children Not yet recruiting NCT03685877

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 30 VDR

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

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

42
Skin, Kidney, Cortex

Publications for Vitamin D-Dependent Rickets, Type 2a

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

(show all 28)
# Title Authors Year
1
Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations. ( 30967742 )
2019
2
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation. ( 29949513 )
2018
3
Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A. ( 28367941 )
2017
4
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance. ( 28377956 )
2015
5
Enteral calcium infusion used successfully as treatment for a patient with hereditary vitamin D resistant rickets (HVDRR) without alopecia: a novel mutation. ( 23026218 )
2013
6
The renin-angiotensin system, blood pressure, and heart structure in patients with hereditary vitamin D-resistance rickets (HVDRR). ( 21590741 )
2011
7
Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor. ( 21812032 )
2011
8
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. ( 17970811 )
2008
9
Bullous congenital ichthyosiform erythroderma associated with hypocalcemic vitamin D-resistant rickets. ( 18429807 )
2008
10
Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers. ( 17106204 )
2007
11
Calcium and vitamin D metabolism in hypocalcemic vitamin D-resistant rickets carriers. ( 16424674 )
2006
12
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. ( 11564167 )
2001
13
Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. ( 9495519 )
1998
14
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. ( 9005998 )
1997
15
A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets. ( 9360557 )
1997
16
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. ( 8675579 )
1996
17
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents. ( 8862631 )
1996
18
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. ( 8961271 )
1996
19
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. ( 8392085 )
1993
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 molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. ( 2174914 )
1990
22
A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3. ( 2177843 )
1990
23
An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. ( 2557627 )
1989
24
Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. ( 2558018 )
1989
25
Human vitamin D receptor mutations: identification of molecular defects in hypocalcemic vitamin D resistant rickets. ( 2618873 )
1989
26
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. ( 2849209 )
1988
27
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. ( 3024987 )
1986
28
Clinical features of hereditary resistance to 1,25-dihydroxyvitamin D (hereditary hypocalcemic vitamin D resistant rickets type II). ( 3012981 )
1986

Variations for Vitamin D-Dependent Rickets, Type 2a

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

76 (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 35)
# 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.218G> A (p.Arg73Gln) single nucleotide variant Uncertain significance rs121909791 GRCh37 Chromosome 12, 48258889: 48258889
4 VDR NM_001017535.1(VDR): c.218G> A (p.Arg73Gln) single nucleotide variant Uncertain significance rs121909791 GRCh38 Chromosome 12, 47865106: 47865106
5 VDR NM_001017535.1(VDR): c.885C> A (p.Tyr295Ter) single nucleotide variant Pathogenic rs121909792 GRCh37 Chromosome 12, 48240462: 48240462
6 VDR NM_001017535.1(VDR): c.885C> A (p.Tyr295Ter) single nucleotide variant Pathogenic rs121909792 GRCh38 Chromosome 12, 47846679: 47846679
7 VDR NM_001017535.1(VDR): c.985G> A (p.Glu329Lys) single nucleotide variant Pathogenic rs121909802 GRCh37 Chromosome 12, 48240157: 48240157
8 VDR NM_001017535.1(VDR): c.985G> A (p.Glu329Lys) single nucleotide variant Pathogenic rs121909802 GRCh38 Chromosome 12, 47846374: 47846374
9 VDR NM_001017535.1(VDR): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs121909793 GRCh37 Chromosome 12, 48258868: 48258868
10 VDR NM_001017535.1(VDR): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs121909793 GRCh38 Chromosome 12, 47865085: 47865085
11 VDR NM_001017535.1(VDR): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909794 GRCh37 Chromosome 12, 48258958: 48258958
12 VDR NM_001017535.1(VDR): c.149G> A (p.Arg50Gln) single nucleotide variant Pathogenic rs121909794 GRCh38 Chromosome 12, 47865175: 47865175
13 VDR NM_001017535.1(VDR): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs121909795 GRCh37 Chromosome 12, 48251295: 48251295
14 VDR NM_001017535.1(VDR): c.454C> T (p.Gln152Ter) single nucleotide variant Pathogenic rs121909795 GRCh38 Chromosome 12, 47857512: 47857512
15 VDR NM_001017535.1(VDR): c.821G> T (p.Arg274Leu) single nucleotide variant Pathogenic rs121909796 GRCh37 Chromosome 12, 48240526: 48240526
16 VDR NM_001017535.1(VDR): c.821G> T (p.Arg274Leu) single nucleotide variant Pathogenic rs121909796 GRCh38 Chromosome 12, 47846743: 47846743
17 VDR NM_001017535.1(VDR): c.137G> A (p.Gly46Asp) single nucleotide variant Pathogenic rs121909797 GRCh37 Chromosome 12, 48272760: 48272760
18 VDR NM_001017535.1(VDR): c.137G> A (p.Gly46Asp) single nucleotide variant Pathogenic rs121909797 GRCh38 Chromosome 12, 47878977: 47878977
19 VDR NM_001017535.1(VDR): c.915C> G (p.His305Gln) single nucleotide variant Pathogenic rs121909798 GRCh37 Chromosome 12, 48240227: 48240227
20 VDR NM_001017535.1(VDR): c.915C> G (p.His305Gln) single nucleotide variant Pathogenic rs121909798 GRCh38 Chromosome 12, 47846444: 47846444
21 VDR NM_001017535.1(VDR): c.941T> G (p.Ile314Ser) single nucleotide variant Pathogenic rs121909799 GRCh37 Chromosome 12, 48240201: 48240201
22 VDR NM_001017535.1(VDR): c.941T> G (p.Ile314Ser) single nucleotide variant Pathogenic rs121909799 GRCh38 Chromosome 12, 47846418: 47846418
23 VDR NM_001017535.1(VDR): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs121909800 GRCh37 Chromosome 12, 48238642: 48238642
24 VDR NM_001017535.1(VDR): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs121909800 GRCh38 Chromosome 12, 47844859: 47844859
25 VDR NM_001017535.1(VDR): c.88C> T (p.Arg30Ter) single nucleotide variant Pathogenic rs121909801 GRCh37 Chromosome 12, 48272809: 48272809
26 VDR NM_001017535.1(VDR): c.88C> T (p.Arg30Ter) single nucleotide variant Pathogenic rs121909801 GRCh38 Chromosome 12, 47879026: 47879026
27 VDR VDR, 1-BP DEL, 366C deletion Pathogenic
28 VDR NM_001017535.1(VDR): c.1036G> A (p.Val346Met) single nucleotide variant Pathogenic rs267607169 GRCh37 Chromosome 12, 48238777: 48238777
29 VDR NM_001017535.1(VDR): c.1036G> A (p.Val346Met) single nucleotide variant Pathogenic rs267607169 GRCh38 Chromosome 12, 47844994: 47844994
30 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh37 Chromosome X, 22237187: 22237187
31 PHEX NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg) single nucleotide variant Pathogenic/Likely pathogenic rs875989883 GRCh38 Chromosome X, 22219070: 22219070
32 VDR NM_001017535.1(VDR): c.1190A> C (p.His397Pro) single nucleotide variant Pathogenic rs886037890 GRCh37 Chromosome 12, 48238623: 48238623
33 VDR NM_001017535.1(VDR): c.1190A> C (p.His397Pro) single nucleotide variant Pathogenic rs886037890 GRCh38 Chromosome 12, 47844840: 47844840
34 VDR NM_001017535.1(VDR): c.1171C> A (p.Arg391Ser) single nucleotide variant Pathogenic rs121909800 GRCh37 Chromosome 12, 48238642: 48238642
35 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:

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.48 NR1H2 VDR
2 skeletal system development GO:0001501 9.46 PHEX VDR
3 calcium ion transport GO:0006816 9.43 CYP27B1 VDR
4 steroid hormone mediated signaling pathway GO:0043401 9.4 NR1H2 VDR
5 bone mineralization GO:0030282 9.37 CYP27B1 PHEX
6 decidualization GO:0046697 9.32 CYP27B1 VDR
7 response to vitamin D GO:0033280 9.26 CYP27B1 PHEX
8 positive regulation of keratinocyte differentiation GO:0045618 9.16 CYP27B1 VDR
9 vitamin D metabolic process GO:0042359 8.96 CYP27B1 VDR
10 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 metal ion binding GO:0046872 9.71 CYP27B1 NR1H2 PHEX VDR
2 zinc ion binding GO:0008270 9.54 NR1H2 PHEX VDR
3 signaling receptor activity GO:0038023 9.43 NR1H2 VDR
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.32 NR1H2 VDR
5 nuclear receptor transcription coactivator activity GO:0030374 9.26 NR1H2 VDR
6 steroid hormone receptor activity GO:0003707 9.16 NR1H2 VDR
7 nuclear receptor activity GO:0004879 8.96 NR1H2 VDR
8 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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