Vitamin D-Dependent Rickets (VDDR)

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

Aliases & Classifications for Vitamin D-Dependent Rickets

MalaCards integrated aliases for Vitamin D-Dependent Rickets:

Name: Vitamin D-Dependent Rickets 12 43 36 6
Vddr 43


External Ids:

Disease Ontology 12 DOID:0080883
KEGG 36 H01143
ICD9CM 34 268.0
SNOMED-CT 67 68295002
ICD10 32 E55.0
UMLS 70 C0221468

Summaries for Vitamin D-Dependent Rickets

MedlinePlus Genetics : 43 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 hydroxylation-deficient rickets, type 1a and vitamin d-dependent rickets, type 2a. 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 Steroid biosynthesis and Endocrine and other factor-regulated calcium reabsorption. Affiliated tissues include bone, skin and small intestine, and related phenotypes are adipose tissue and skeleton

Disease Ontology : 12 A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.

KEGG : 36 Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.

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 108)
# Related Disease Score Top Affiliating Genes
1 vitamin d hydroxylation-deficient rickets, type 1a 33.3 CYP2R1 CYP27B1
2 vitamin d-dependent rickets, type 2a 32.9 VDR PTCHD1-AS PHEX CYP27B1
3 hypocalcemic vitamin d-dependent rickets 32.9 CYP2R1 CYP27B1
4 hypophosphatemic rickets, x-linked recessive 30.3 VDR PTCHD1-AS PHEX CYP27B1
5 rickets 30.3 VDR PTH PTCHD1-AS PHEX CYP3A4 CYP2R1
6 hyperparathyroidism 30.2 VDR PTH PHEX CYP27B1 BGLAP
7 hypoparathyroidism 30.1 VDR PTH BGLAP
8 secondary hyperparathyroidism 30.1 VDR PTH PHEX CYP27B1 BGLAP
9 osteitis fibrosa 30.1 PTH BGLAP
10 hypophosphatemia 29.9 VDR PTH PHEX CYP27B1 BGLAP
11 hyperphosphatemia 29.9 VDR PTH PHEX BGLAP
12 bone disease 29.8 VDR PTH PHEX BGLAP
13 hypocalcemia, autosomal dominant 1 29.7 VDR PTH CYP27B1 BGLAP
14 osteomalacia 29.7 VDR PTH PHEX CYP3A4 CYP27B1 BGLAP
15 xanthomatosis 29.6 FDX1 CYP27B1 CYP27A1
16 bone resorption disease 29.4 VDR PTH CYP27A1 BGLAP
17 cerebrotendinous xanthomatosis 29.4 FDX1 CYP3A4 CYP27B1 CYP27A1
18 hypophosphatemic rickets, x-linked dominant 29.3 PTH PTCHD1-AS PHEX CYP27B1 BGLAP
19 vitamin d-dependent rickets, type 2b, with normal vitamin d receptor 11.9
20 vitamin d-dependent rickets, type 3 11.8
21 vitamin d hydroxylation-deficient rickets, type 1b 11.8
22 vitamin d-dependent rickets type 2b 11.7
23 alopecia 10.8
24 autosomal recessive disease 10.7
25 hypotonia 10.4
26 respiratory failure 10.3
27 nephrocalcinosis 10.3
28 aminoaciduria 10.3
29 hereditary hypophosphatemic rickets 10.3
30 colon sarcoma 10.3 VDR CYP27B1
31 multiple sclerosis 10.2
32 intracranial hypertension, idiopathic 10.2
33 ocular motor apraxia 10.2
34 renal tubular acidosis 10.2
35 alopecia totalis 10.2
36 atrioventricular block 10.1
37 hypercalcemia, infantile, 1 10.1 VDR PTH
38 calciphylaxis 10.1 VDR PTH
39 idiopathic hypercalciuria 10.1 VDR BGLAP
40 oncogenic osteomalacia 10.1 PTH PHEX
41 dental abscess 10.1 PTH PHEX
42 beta-thalassemia major 10.1 VDR BGLAP
43 hypophosphatemic rickets with hypercalciuria, hereditary 10.1 PTH PHEX
44 alopecia universalis congenita 10.1
45 atrichia with papular lesions 10.1
46 myelofibrosis 10.1
47 phenylketonuria 10.1
48 abdominal obesity-metabolic syndrome 1 10.1
49 scheie syndrome 10.1
50 diabetes mellitus, ketosis-prone 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 adipose tissue MP:0005375 9.35 BGLAP CYP27A1 CYP27B1 PHEX PHYH
2 skeleton MP:0005390 9.17 BGLAP CYP27A1 CYP27B1 CYP2R1 PHEX PTH

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

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

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

Publications for Vitamin D-Dependent Rickets

Articles related to Vitamin D-Dependent Rickets:

(show top 50) (show all 281)
# Title Authors PMID Year
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b. 61
33715104 2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature. 61
33386952 2021
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature. 61
32926064 2020
Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report. 61
33031289 2020
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. 61
33004071 2020
Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention. 61
32645757 2020
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1). 61
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? 61
31843680 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. 61
33329754 2020
Diagnosis and Management of Vitamin D Dependent Rickets. 61
32596195 2020
Vitamin D-Resistant Rickets Diagnostics and Treatment Challenges at Muhimbili National Hospital, Tanzania. 61
32082647 2020
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. 61
30835073 2019
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A 61
30282619 2019
Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations. 61
30967742 2019
A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report. 61
30777056 2019
Oral Rehabilitation of a Pediatric Patient with Vitamin D-dependent Rickets II: A Rare Case Report. 61
31496578 2019
Efficacy of a Standardized Oral Vitamin D Dosing Regimen in Nursing Home Residents. 61
30345478 2018
The good and the bad of vitamin D inactivation. 61
30080183 2018
Hypocalcaemic and hypophosphatemic rickets. 61
30086869 2018
Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment. 61
29417983 2018
Cortical Matrix Mineral Density Measured Noninvasively in Pre- and Postmenopausal Women and a Woman With Vitamin D-Dependent Rickets. 61
29489033 2018
Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A. 61
30805538 2018
CYP3A4 mutation causes vitamin D-dependent rickets type 3. 61
29461981 2018
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia. 61
29589644 2018
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. 61
28608052 2018
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. 61
29692463 2018
[Rickets/Osteomalacia. Vitamin D dependency.] 61
30269116 2018
Genetic Causes of Rickets. 61
29280738 2017
Genetic Diseases of Vitamin D Metabolizing Enzymes. 61
29080636 2017
CYP2R1 mutations causing vitamin D-deficiency rickets. 61
27473561 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? 61
28548312 2017
Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A. 61
28367941 2017
WITHDRAWN: Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. 61
28587998 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. 61
27287609 2017
Genetic disorders of Vitamin D biosynthesis and degradation. 61
27060335 2017
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population. 61
27353739 2016
Sex-related differences in the skeletal phenotype of aged vitamin D receptor global knockout mice. 61
26690785 2016
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. 61
27399352 2016
Transcriptional activation of the wild-type and mutant vitamin D receptors by vitamin D3 analogs. 61
27154546 2016
Fibroblast growth factor-23 and renin-angiotensin system levels in vitamin-D-dependent rickets type I. 61
26939683 2016
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. 61
26510652 2016
Implementation of automated testing for 1,25-dihydroxyvitamin D: Return of experience from a core-laboratory. 61
26519091 2016
[Vitamin D dependency and its treatment]. 61
26813508 2016
Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I. 61
26982175 2016
Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation. 61
26734137 2015
Vitamin D-dependent rickets: a resurgence of the rachitic lung in the 21st century. 61
26483391 2015
[Long term follow up of a patient with type I vitamin D-dependent rickets]. 61
29421501 2015
Experience with the first fully automated chemiluminescence immunoassay for the quantification of 1α, 25-dihydroxy-vitamin D. 61
25274943 2015
Periodontal diseases in patients with vitamin D-resistant rickets. 61
25802443 2015

Variations for Vitamin D-Dependent Rickets

ClinVar genetic disease variations for Vitamin D-Dependent Rickets:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VDR NM_000376.3(VDR):c.*948_*950GAG[1] Microsatellite Uncertain significance 308855 rs886049429 GRCh37: 12:48237576-48237578
GRCh38: 12:47843793-47843795
2 CYP27B1 NM_000785.4(CYP27B1):c.*426_*428dup Duplication Uncertain significance 309991 rs886049722 GRCh37: 12:58156496-58156497
GRCh38: 12:57762713-57762714
3 VDR NM_000376.3(VDR):c.*2391C>G SNV Uncertain significance 308821 rs886049415 GRCh37: 12:48236138-48236138
GRCh38: 12:47842355-47842355
4 VDR NM_000376.3(VDR):c.*2118_*2122del Deletion Uncertain significance 308830 rs17878969 GRCh37: 12:48236407-48236411
GRCh38: 12:47842624-47842628
5 VDR NM_000376.3(VDR):c.*2100_*2105del Deletion Uncertain significance 308833 rs886049422 GRCh37: 12:48236424-48236429
GRCh38: 12:47842641-47842646
6 VDR NM_000376.3(VDR):c.*1235_*1239CCAGC[4] Microsatellite Uncertain significance 308850 rs11574130 GRCh37: 12:48237279-48237280
GRCh38: 12:47843496-47843497
7 VDR NM_000376.3(VDR):c.*1179del Deletion Uncertain significance 308853 rs530894692 GRCh37: 12:48237350-48237350
GRCh38: 12:47843567-47843567
8 VDR NM_001017535.1(VDR):c.146+9dup Duplication Uncertain significance 308885 rs748166237 GRCh37: 12:48272741-48272742
GRCh38: 12:47878958-47878959
9 VDR NM_000376.3(VDR):c.*2122dup Duplication 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 Duplication Uncertain significance 308817 rs886049413 GRCh37: 12:48235870-48235871
GRCh38: 12:47842087-47842088
12 VDR NM_000376.3(VDR):c.*2102del Deletion Uncertain significance 308834 rs886049423 GRCh37: 12:48236427-48236427
GRCh38: 12:47842644-47842644
13 VDR NM_000376.3(VDR):c.*2124dup Duplication 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.-84+5056C>T SNV Uncertain significance 308890 rs886049439 GRCh37: 12:48293682-48293682
GRCh38: 12:47899899-47899899
16 VDR NM_000376.3(VDR):c.*2117_*2122del Deletion 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 KEGG:

# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100
2 Endocrine and other factor-regulated calcium reabsorption hsa04961
3 Mineral absorption hsa04978

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

# Super pathways Score Top Affiliating Genes
Show member pathways
12.86 FDX1 CYP3A4 CYP2R1 CYP27B1 CYP27A1
3 11.2 VDR PTH
6 10.98 VDR CYP3A4 CYP27B1
7 10.66 VDR CYP3A4
8 10.58 VDR CYP3A4
9 10.51 PTH BGLAP
10 10.02 VDR PTH CYP2R1 CYP27B1 CYP27A1

GO Terms for Vitamin D-Dependent Rickets

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 PHYH FDX1 CYP3A4 CYP2R1 CYP27B1 CYP27A1
2 steroid metabolic process GO:0008202 9.7 FDX1 CYP3A4 CYP27A1
3 cholesterol metabolic process GO:0008203 9.67 FDX1 CYP3A4 CYP27A1
4 steroid biosynthetic process GO:0006694 9.63 FDX1 CYP3A4 CYP27A1
5 skeletal system development GO:0001501 9.62 VDR PTH PHEX BGLAP
6 bone mineralization GO:0030282 9.61 PHEX CYP27B1 BGLAP
7 odontogenesis GO:0042476 9.6 PHEX BGLAP
8 biomineral tissue development GO:0031214 9.59 PHEX BGLAP
9 calcium ion homeostasis GO:0055074 9.58 PTH CYP27B1
10 decidualization GO:0046697 9.58 VDR CYP27B1
11 sterol metabolic process GO:0016125 9.57 FDX1 CYP27A1
12 exogenous drug catabolic process GO:0042738 9.56 CYP3A4 CYP2R1
13 regulation of bone mineralization GO:0030500 9.55 CYP27B1 BGLAP
14 positive regulation of keratinocyte differentiation GO:0045618 9.54 VDR CYP27B1
15 cellular response to vitamin D GO:0071305 9.51 PHEX BGLAP
16 vitamin metabolic process GO:0006766 9.48 CYP2R1 CYP27B1
17 response to vitamin D GO:0033280 9.46 PTH PHEX CYP27B1 BGLAP
18 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.4 VDR CYP27B1
19 vitamin D biosynthetic process GO:0042368 9.37 CYP2R1 CYP27B1
20 vitamin D metabolic process GO:0042359 9.26 VDR CYP3A4 CYP2R1 CYP27B1
21 calcitriol biosynthetic process from calciol GO:0036378 8.92 CYP3A4 CYP2R1 CYP27B1 CYP27A1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.06 VDR PHYH PHEX FDX1 CYP3A4 CYP2R1
2 oxidoreductase activity GO:0016491 9.83 PHYH CYP3A4 CYP2R1 CYP27B1 CYP27A1
3 heme binding GO:0020037 9.62 CYP3A4 CYP2R1 CYP27B1 CYP27A1
4 monooxygenase activity GO:0004497 9.56 CYP3A4 CYP2R1 CYP27B1 CYP27A1
5 steroid hydroxylase activity GO:0008395 9.54 CYP3A4 CYP2R1 CYP27A1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.46 CYP3A4 CYP2R1
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP3A4 CYP2R1 CYP27B1 CYP27A1
8 iron ion binding GO:0005506 9.35 FDX1 CYP3A4 CYP2R1 CYP27B1 CYP27A1
9 vitamin D3 25-hydroxylase activity GO:0030343 8.8 CYP3A4 CYP2R1 CYP27A1

Sources for Vitamin D-Dependent Rickets

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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