Vitamin D-Dependent Rickets (VDDR)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Vitamin D-Dependent Rickets

MalaCards integrated aliases for Vitamin D-Dependent Rickets:

Name: Vitamin D-Dependent Rickets 11 42 5 14
Vddr 42


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Disease Ontology 11 DOID:0080883
ICD9CM 34 268.0
SNOMED-CT 68 68295002
ICD10 31 E55.0
UMLS 71 C0221468

Summaries for Vitamin D-Dependent Rickets

MedlinePlus Genetics: 42 Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.

MalaCards based summary: Vitamin D-Dependent Rickets, also known as vddr, is related to vitamin d-dependent rickets, type 3 and hypocalcemic vitamin d-dependent rickets. An important gene associated with Vitamin D-Dependent Rickets is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways/superpathways are Metabolism and Oxidation by cytochrome P450. Affiliated tissues include bone, dorsal root ganglion and small intestine, and related phenotypes are homeostasis/metabolism and renal/urinary system

Disease Ontology: 11 A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.

Related Diseases for Vitamin D-Dependent Rickets

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type 3 33.3 CYP3A4 CYP24A1
2 hypocalcemic vitamin d-dependent rickets 33.0 CYP2R1 CYP27B1
3 vitamin d-dependent rickets type 2b 32.9 FGF23 CYP2R1 CYP27B1
4 vitamin d hydroxylation-deficient rickets, type 1a 32.2 VDR S100G PTH PHEX FGF23 CYP2R1
5 vitamin d hydroxylation-deficient rickets, type 1b 31.2 VDR SLC34A3 SLC34A1 PTH FGF23 ENPP1
6 vitamin d-dependent rickets, type 2a 30.9 VDR SLC34A3 S100G PTH PHEX MIR1306
7 secondary hyperparathyroidism 30.6 VDR PTH FGF23 CYP27B1 CYP24A1
8 hypoparathyroidism 30.4 VDR PTH FGF23
9 osteitis fibrosa 30.4 PTH FGF23
10 nephrocalcinosis 30.1 SLC34A3 SLC34A1 PHEX CYP24A1
11 bone disease 30.0 VDR PTH PHEX FGF23 CYP27B1
12 hyperparathyroidism 30.0 VDR PTH PHEX GC FGF23 CYP27B1
13 hypocalcemia, autosomal dominant 1 29.9 VDR PTH FGF23 CYP27B1 CYP24A1
14 hyperphosphatemia 29.9 VDR SLC34A1 PTH PHEX FGF23
15 rickets 29.8 VDR SLC34A3 SLC34A1 PTH PHEX GC
16 hypophosphatemia 29.4 VDR SLC34A3 SLC34A1 PTH PHEX FGF23
17 hypophosphatemic rickets, x-linked recessive 29.2 VDR SLC34A3 SLC34A1 PHEX FGF23 ENPP1
18 hypophosphatemic rickets, x-linked dominant 28.7 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
19 osteomalacia 28.2 VDR SLC34A3 SLC34A1 PTH PHEX GC
20 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 11.9
21 hypocalcemic rickets 11.4
22 alopecia 10.8
23 hypotonia 10.4
24 respiratory failure 10.3
25 renal tubular acidosis 10.3
26 aminoaciduria 10.3
27 multiple sclerosis 10.2
28 intracranial hypertension, idiopathic 10.2
29 ocular motor apraxia 10.2
30 dental caries 10.2
31 alopecia totalis 10.2
32 atrioventricular block 10.2
33 ossifying fibroma 10.1 PTH FGF23
34 bipolar i disorder 10.1 PRODH CYP3A4
35 idiopathic infantile hypercalcemia 10.1 SLC34A1 CYP24A1
36 hypercalciuria, absorptive, 2 10.1 VDR SLC34A3
37 blount's disease 10.1 SLC34A3 FGF23
38 osteoblastoma 10.1 PTH FGF23
39 osteochondrosis 10.1 VDR PTH
40 osteonecrosis 10.1 VDR PTH CYP3A4
41 calciphylaxis 10.1 VDR PTH FGF23
42 dentin dysplasia, type ii 10.1
43 polycystic liver disease 1 with or without kidney cysts 10.1
44 alopecia universalis congenita 10.1
45 atrichia with papular lesions 10.1
46 cerebrotendinous xanthomatosis 10.1
47 myelofibrosis 10.1
48 phenylketonuria 10.1
49 spastic ataxia, charlevoix-saguenay type 10.1
50 xanthomatosis 10.1

Graphical network of the top 20 diseases related to Vitamin D-Dependent Rickets:

Diseases related to Vitamin D-Dependent Rickets

Symptoms & Phenotypes for Vitamin D-Dependent Rickets

MGI Mouse Phenotypes related to Vitamin D-Dependent Rickets:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 CYP24A1 CYP27B1 CYP2R1 CYP3A4 ENPP1 FGF23
2 renal/urinary system MP:0005367 9.92 CYP24A1 CYP27B1 ENPP1 FGF23 PHEX SLC34A1
3 limbs/digits/tail MP:0005371 9.8 CYP27B1 ENPP1 FGF23 PHEX PRODH PTH
4 growth/size/body region MP:0005378 9.7 CYP24A1 CYP27B1 ENPP1 FGF23 GC PHEX
5 skeleton MP:0005390 9.4 CYP24A1 CYP27B1 CYP2R1 ENPP1 FGF23 GC

Drugs & Therapeutics for Vitamin D-Dependent Rickets

Search Clinical Trials, NIH Clinical Center for Vitamin D-Dependent Rickets

Genetic Tests for Vitamin D-Dependent Rickets

Anatomical Context for Vitamin D-Dependent Rickets

Organs/tissues related to Vitamin D-Dependent Rickets:

MalaCards : Bone, Dorsal Root Ganglion, Small Intestine, Skin, Skeletal Muscle, Kidney, Colon

Publications for Vitamin D-Dependent Rickets

Articles related to Vitamin D-Dependent Rickets:

(show top 50) (show all 295)
# Title Authors PMID Year
Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease. 62
36321535 2022
Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene. 62
35973571 2022
Prevalence and Related Risk Factors of Vitamin D Deficiency in Saudi Children with Epilepsy. 62
36360424 2022
Plasma renin, aldosterone, and urinary prostaglandin E2 levels in children with hypocalcemia due to vitamin D deficiency rickets. 62
35688409 2022
Genetic and clinical profile of patients with hypophosphatemic rickets. 62
35738466 2022
Robust osteogenic efficacy of 2α-heteroarylalkyl vitamin D analogue AH-1 in VDR (R270L) hereditary vitamin D-dependent rickets model rats. 62
35869242 2022
Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing. 62
35279323 2022
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report. 62
35663328 2022
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study. 62
36405822 2022
Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations. 62
35832491 2022
Vitamin D-dependent Hypercalcemia. 62
34774244 2021
Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review. 62
34492747 2021
Hereditary Vitamin-D Dependent Rickets Type II: A Case Report. 62
34508408 2021
The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A. 62
33823104 2021
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b. 62
33715104 2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature. 62
33386952 2021
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. 62
33004071 2020
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature. 62
32926064 2020
Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report. 62
33031289 2020
Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention. 62
32645757 2020
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1). 62
32430692 2020
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy? 62
31843680 2020
Vitamin D-Resistant Rickets Diagnostics and Treatment Challenges at Muhimbili National Hospital, Tanzania. 62
32082647 2020
31557081 2020
Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error. 62
33329754 2020
Diagnosis and Management of Vitamin D Dependent Rickets. 62
32596195 2020
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. 62
30835073 2019
Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations. 62
30967742 2019
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A 62
30282619 2019
A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report. 62
30777056 2019
Oral Rehabilitation of a Pediatric Patient with Vitamin D-dependent Rickets II: A Rare Case Report. 62
31496578 2019
Efficacy of a Standardized Oral Vitamin D Dosing Regimen in Nursing Home Residents. 62
30345478 2018
Hypocalcaemic and hypophosphatemic rickets. 62
30086869 2018
The good and the bad of vitamin D inactivation. 62
30080183 2018
Cortical Matrix Mineral Density Measured Noninvasively in Pre- and Postmenopausal Women and a Woman With Vitamin D-Dependent Rickets. 62
29489033 2018
Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment. 62
29417983 2018
Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A. 62
30805538 2018
CYP3A4 mutation causes vitamin D-dependent rickets type 3. 62
29461981 2018
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. 62
28608052 2018
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia. 62
29589644 2018
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. 62
29692463 2018
[Rickets/Osteomalacia. Vitamin D dependency.] 62
30269116 2018
Genetic Diseases of Vitamin D Metabolizing Enzymes. 62
29080636 2017
Genetic Causes of Rickets. 62
29280738 2017
CYP2R1 mutations causing vitamin D-deficiency rickets. 62
27473561 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? 62
28548312 2017
Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A. 62
28367941 2017
WITHDRAWN: Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. 62
28587998 2017
Genetic disorders of Vitamin D biosynthesis and degradation. 62
27060335 2017
A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene. 62
27287609 2017

Variations for Vitamin D-Dependent Rickets

ClinVar genetic disease variations for Vitamin D-Dependent Rickets:

5 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VDR NM_000376.3(VDR):c.*948GAG[1] MICROSAT Uncertain Significance
308855 rs886049429 GRCh37: 12:48237576-48237578
GRCh38: 12:47843793-47843795
2 CYP27B1 NM_000785.4(CYP27B1):c.*426_*428dup DUP Uncertain Significance
309991 rs886049722 GRCh37: 12:58156496-58156497
GRCh38: 12:57762713-57762714
3 VDR NM_000376.3(VDR):c.-84+5056C>T SNV Uncertain Significance
308890 rs886049439 GRCh37: 12:48293682-48293682
GRCh38: 12:47899899-47899899
4 VDR NM_000376.3(VDR):c.*2391C>G SNV Uncertain Significance
308821 rs886049415 GRCh37: 12:48236138-48236138
GRCh38: 12:47842355-47842355
5 VDR NM_000376.3(VDR):c.*2118_*2122del DEL Uncertain Significance
308830 rs17878969 GRCh37: 12:48236407-48236411
GRCh38: 12:47842624-47842628
6 VDR NM_000376.3(VDR):c.*2100_*2105del DEL Uncertain Significance
308833 rs886049422 GRCh37: 12:48236424-48236429
GRCh38: 12:47842641-47842646
7 VDR NM_000376.3(VDR):c.*1235CCAGC[4] MICROSAT Uncertain Significance
308850 rs11574130 GRCh37: 12:48237279-48237280
GRCh38: 12:47843496-47843497
8 VDR NM_000376.3(VDR):c.*1179del DEL Uncertain Significance
308853 rs530894692 GRCh37: 12:48237350-48237350
GRCh38: 12:47843567-47843567
9 VDR NM_000376.3(VDR):c.*2122dup DUP Uncertain Significance
308831 rs17878969 GRCh37: 12:48236406-48236407
GRCh38: 12:47842623-47842624
10 VDR NM_000376.3(VDR):c.*1178A>C SNV Uncertain Significance
308854 rs886049428 GRCh37: 12:48237351-48237351
GRCh38: 12:47843568-47843568
11 VDR NM_000376.3(VDR):c.*2658dup DUP Uncertain Significance
308817 rs886049413 GRCh37: 12:48235870-48235871
GRCh38: 12:47842087-47842088
12 VDR NM_000376.3(VDR):c.*2102del DEL Uncertain Significance
308834 rs886049423 GRCh37: 12:48236427-48236427
GRCh38: 12:47842644-47842644
13 VDR NM_000376.3(VDR):c.*2124dup DUP Uncertain Significance
308829 rs886049419 GRCh37: 12:48236404-48236405
GRCh38: 12:47842621-47842622
14 VDR NM_000376.3(VDR):c.*1253T>A SNV Uncertain Significance
308849 rs886049427 GRCh37: 12:48237276-48237276
GRCh38: 12:47843493-47843493
15 VDR NM_000376.3(VDR):c.146+9dup DUP Uncertain Significance
308885 rs748166237 GRCh37: 12:48272741-48272742
GRCh38: 12:47878958-47878959
16 VDR NM_000376.3(VDR):c.*2117_*2122del DEL Benign
308832 rs17878969 GRCh37: 12:48236407-48236412
GRCh38: 12:47842624-47842629

Expression for Vitamin D-Dependent Rickets

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

Pathways for Vitamin D-Dependent Rickets

Pathways related to Vitamin D-Dependent Rickets according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
12.46 CYP3A4 CYP2R1 CYP27B1 CYP24A1
Show member pathways
12.36 VDR GC CYP2R1 CYP27B1 CYP24A1
4 11.97 VDR S100G PTH FGF23 CYP3A4 CYP27B1
Show member pathways
11.69 VDR CYP3A4 CYP24A1
6 11.32 VDR CYP27B1 CYP24A1
7 11.31 VDR PTH CYP3A4 CYP27B1 CYP24A1
8 11.17 VDR CYP3A4 CYP27B1 CYP24A1
9 11.08 VDR CYP27B1
10 11.08 CYP24A1 CYP27B1 CYP2R1
11 10.88 VDR CYP24A1
12 10.74 VDR CYP3A4
13 10.65 VDR CYP3A4
15 10.43 VDR PTH GC CYP2R1 CYP27B1 CYP24A1

GO Terms for Vitamin D-Dependent Rickets

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 bone mineralization GO:0030282 10.1 PTH PHEX ENPP1 CYP27B1
2 calcium ion homeostasis GO:0055074 9.95 PTH FGF23 CYP27B1
3 cellular response to parathyroid hormone stimulus GO:0071374 9.93 FGF23 PHEX SLC34A1
4 response to lead ion GO:0010288 9.92 SLC34A1 PTH
5 regulation of bone mineralization GO:0030500 9.92 FGF23 ENPP1 CYP27B1
6 negative regulation of bone mineralization GO:0030502 9.91 FGF23 ENPP1
7 response to growth hormone GO:0060416 9.91 SLC34A1 PHEX
8 vitamin metabolic process GO:0006766 9.91 CYP2R1 CYP27B1 CYP24A1
9 response to magnesium ion GO:0032026 9.9 SLC34A1 FGF23
10 phosphate ion transport GO:0006817 9.89 SLC34A3 SLC34A1
11 response to sodium phosphate GO:1904383 9.88 PHEX FGF23
12 sodium-dependent phosphate transport GO:0044341 9.88 SLC34A3 SLC34A1
13 cellular response to vitamin D GO:0071305 9.88 PHEX FGF23 CYP24A1
14 calcitriol biosynthetic process from calciol GO:0036378 9.88 CYP3A4 CYP2R1 CYP27B1
15 positive regulation of vitamin D receptor signaling pathway GO:0070564 9.87 VDR CYP27B1
16 response to vitamin D GO:0033280 9.87 PTH PHEX CYP27B1 CYP24A1
17 phosphate ion homeostasis GO:0055062 9.86 ENPP1 FGF23 PTH SLC34A1
18 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.85 VDR FGF23 CYP27B1
19 vitamin D receptor signaling pathway GO:0070561 9.84 VDR CYP24A1
20 cellular phosphate ion homeostasis GO:0030643 9.76 SLC34A3 SLC34A1 FGF23 ENPP1
21 response to parathyroid hormone GO:0071107 9.73 PTH SLC34A1
22 vitamin D catabolic process GO:0042369 9.56 FGF23 CYP3A4 CYP27B1 CYP24A1
23 vitamin D biosynthetic process GO:0042368 9.51 CYP2R1 CYP27B1
24 vitamin D metabolic process GO:0042359 9.36 GC FGF23 CYP3A4 CYP2R1 CYP27B1 CYP24A1

Molecular functions related to Vitamin D-Dependent Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.01 CYP3A4 CYP2R1 CYP27B1 CYP24A1
2 iron ion binding GO:0005506 9.97 CYP24A1 CYP27B1 CYP2R1 CYP3A4
3 oxidoreductase activity GO:0016491 9.93 PRODH CYP3A4 CYP2R1 CYP27B1 CYP24A1
4 sodium:phosphate symporter activity GO:0005436 9.78 SLC34A3 SLC34A1
5 vitamin D binding GO:0005499 9.73 S100G GC
6 vitamin D3 25-hydroxylase activity GO:0030343 9.62 CYP3A4 CYP2R1
7 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity GO:0062181 9.46 CYP3A4 CYP24A1
8 vitamin D 24-hydroxylase activity GO:0070576 9.43 CYP3A4 CYP24A1
9 monooxygenase activity GO:0004497 9.35 CYP3A4 CYP2R1 CYP27B1 CYP24A1
10 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.92 CYP3A4 CYP2R1 CYP27B1 CYP24A1

Sources for Vitamin D-Dependent Rickets

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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