VDDR1B
MCID: VTM029
MIFTS: 28

Vitamin D Hydroxylation-Deficient Rickets, Type 1b (VDDR1B)

Categories: Blood diseases, Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

MalaCards integrated aliases for Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

Name: Vitamin D Hydroxylation-Deficient Rickets, Type 1b 57 29 6 39 70
Vddr1b 57 72
Pseudovitamin D(3) Deficiency Rickets Due to 25-Hydroxylase Deficiency 72
Pseudovitamin D3 Deficiency Rickets Due to 25-Hydroxylase Deficiency 57
Rickets Due to Defect in Vitamin D 25-Hydroxylation Deficiency 57
Rickets Due to Defect in Vitamin D 25-Hydroxylation 13
Selective 25-Hydroxyvitamin D(3) Deficiency 72
25-Hydroxyvitamin D3 Deficiency, Selective 57
25-Hydroxyvitamimn D3 Deficiency Selective 72
Vitamin D-Dependent Rickets, Type 1b 57
Vitamin D-Dependent Rickets Type 1b 12
25-Hydroxyvitamin D(3) Deficiency 72
Rickets Vitamin D-Dependent 1b 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
good response to vitamin d treatment
heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern


HPO:

31
vitamin d hydroxylation-deficient rickets, type 1b:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

OMIM® : 57 Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation (Molin et al., 2017). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by Liberman and Marx, 2001). (600081) (Updated 20-May-2021)

MalaCards based summary : Vitamin D Hydroxylation-Deficient Rickets, Type 1b, also known as vddr1b, is related to vitamin d-dependent rickets and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D Hydroxylation-Deficient Rickets, Type 1b is CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1). Affiliated tissues include bone and cortex, and related phenotypes are failure to thrive and frontal bossing

Disease Ontology : 12 A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.

UniProtKB/Swiss-Prot : 72 Rickets vitamin D-dependent 1B: An autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D.

Related Diseases for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Diseases in the Vitamin D Hydroxylation-Deficient Rickets, Type 1a family:

Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Diseases related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets 11.1
2 rickets 10.4
3 vitamin d hydroxylation-deficient rickets, type 1a 10.2
4 autosomal recessive disease 10.2
5 hypocalcemic vitamin d-dependent rickets 10.2

Graphical network of the top 20 diseases related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:



Diseases related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Symptoms & Phenotypes for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Human phenotypes related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 frontal bossing 31 HP:0002007
3 muscle weakness 31 HP:0001324
4 hypophosphatemia 31 HP:0002148
5 rickets 31 HP:0002748
6 growth delay 31 HP:0001510
7 recurrent fractures 31 HP:0002757
8 flat occiput 31 HP:0005469
9 bone pain 31 HP:0002653
10 femoral bowing 31 HP:0002980
11 generalized hypotonia 31 HP:0001290
12 tibial bowing 31 HP:0002982
13 difficulty walking 31 HP:0002355
14 fibular bowing 31 HP:0010502
15 metaphyseal irregularity 31 HP:0003025
16 bowing of the legs 31 HP:0002979
17 elevated alkaline phosphatase 31 HP:0003155
18 delayed epiphyseal ossification 31 HP:0002663
19 thin bony cortex 31 HP:0002753
20 difficulty standing 31 HP:0003698
21 sparse bone trabeculae 31 HP:0002752
22 bulging epiphyses 31 HP:0003013
23 enlargement of the wrists 31 HP:0003020
24 enlargement of the ankles 31 HP:0003029
25 widely patent fontanelles and sutures 31 HP:0004492
26 deformed rib cage 31 HP:0000886
27 enlargement of the costochondral junction 31 HP:0000920
28 hypotonia 31 HP:0001252
29 bulging of the costochondral junction 31 HP:0000893

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
hypotonia
difficulty in walking
difficulty in standing

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

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

Head And Neck Head:
frontal bossing

Laboratory Abnormalities:
hypophosphatemia
increased alkaline phosphatase
low-to-normal serum calcium
normal serum 1,25-dihydroxyvitamin d3
decreased serum 25-hydroxyvitamin d

Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

Clinical features from OMIM®:

600081 (Updated 20-May-2021)

UMLS symptoms related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:


muscle weakness; bone pain; difficulty standing

Drugs & Therapeutics for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Search Clinical Trials , NIH Clinical Center for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Genetic Tests for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Genetic tests related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

# Genetic test Affiliating Genes
1 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 29 CYP2R1

Anatomical Context for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

MalaCards organs/tissues related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

40
Bone, Cortex

Publications for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Articles related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

# Title Authors PMID Year
1
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? 57 6 61
28548312 2017
2
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 6 57
25942481 2015
3
Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency. 57 6
22855339 2012
4
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. 57 6
15128933 2004
5
A possible genetic defect in 25-hydroxylation as a cause of rickets. 57 6
8201479 1994
6
Case-control study of factors associated with nutritional rickets in Nigerian children. 6
10969262 2000
7
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b. 61
33715104 2021
8
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
9
Genetic Causes of Rickets. 61
29280738 2017
10
CYP2R1 mutations causing vitamin D-deficiency rickets. 61
27473561 2017

Variations for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

ClinVar genetic disease variations for Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP2R1 NM_024514.5(CYP2R1):c.367+1G>A SNV Pathogenic 977184 GRCh37: 11:14907321-14907321
GRCh38: 11:14885775-14885775
2 CYP2R1 NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) Duplication Pathogenic 977185 GRCh37: 11:14901913-14901914
GRCh38: 11:14880367-14880368
3 CYP2R1 NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) Indel Pathogenic 977186 GRCh37: 11:14913615-14913628
GRCh38: 11:14892069-14892082
4 CYP2R1 NM_024514.5(CYP2R1):c.1120dup (p.Ile374fs) Duplication Pathogenic 1029900 GRCh37: 11:14900869-14900870
GRCh38: 11:14879323-14879324
5 CYP2R1 NM_024514.4(CYP2R1):c.296T>C (p.Leu99Pro) SNV Pathogenic 2134 rs61495246 GRCh37: 11:14907393-14907393
GRCh38: 11:14885847-14885847
6 CYP2R1 NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) SNV Uncertain significance 930898 GRCh37: 11:14900809-14900809
GRCh38: 11:14879263-14879263

UniProtKB/Swiss-Prot genetic disease variations for Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

72
# Symbol AA change Variation ID SNP ID
1 CYP2R1 p.Leu99Pro VAR_021534 rs61495246

Expression for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Search GEO for disease gene expression data for Vitamin D Hydroxylation-Deficient Rickets, Type 1b.

Pathways for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

GO Terms for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Sources for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

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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