VDDR1A
MCID: VTM026
MIFTS: 46

Vitamin D Hydroxylation-Deficient Rickets, Type 1a (VDDR1A)

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

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

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

Name: Vitamin D Hydroxylation-Deficient Rickets, Type 1a 57
Vitamin D-Dependent Rickets Type 1a 12 29 6
Vitamin D-Dependent Rickets, Type 1 29 6 70
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency 57 72
Vitamin D-Dependent Rickets, Type 1a 57 39
Vitamin D-Dependent Rickets, Type I 57 13
1-Alpha-Hydroxylase Deficiency 57 72
Pddr Ia 57 72
Vddr1a 57 72
Pddr1a 57 72
Vdd1 57 72
1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective 57
Pseudovitamin D-Deficiency Rickets, Type Ia; Pddr1a 57
1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective 72
Pseudovitamin D-Deficiency Rickets, Type Ia 57
Pseudovitamin D-Deficiency Rickets Type Ia 72
Vitamin D Dependency, Type 1; Vdd1 57
Pseudovitamin D Deficiency Rickets 72
Rickets Vitamin D-Dependent 1a 72
Vitamin D Dependency, Type 1 57
Vitamin D Dependency Type 1 72
Pddr 72

Characteristics:

OMIM®:

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

Miscellaneous:
clinical onset within first 2 years of life
can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3
increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)


HPO:

31
vitamin d hydroxylation-deficient rickets, type 1a:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM® : 57 Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR; 601769) (Koren, 2006; Liberman and Marx, 2001). In the liver, vitamin D 25-hydroxylase (CYP2R1; 608713) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1; 609506) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation (Takeyama et al., 1997). 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 (Liberman and Marx, 2001). (264700) (Updated 20-May-2021)

MalaCards based summary : Vitamin D Hydroxylation-Deficient Rickets, Type 1a, also known as vitamin d-dependent rickets type 1a, is related to vitamin d-dependent rickets and hypocalcemic vitamin d-dependent rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D Hydroxylation-Deficient Rickets, Type 1a is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Metabolism of water-soluble vitamins and cofactors. The drugs Parathyroid hormone and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and small intestine, 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 mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.

UniProtKB/Swiss-Prot : 72 Rickets vitamin D-dependent 1A: A 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.

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

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



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

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

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

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 frontal bossing 31 HP:0002007
3 hypophosphatemia 31 HP:0002148
4 rickets 31 HP:0002748
5 growth delay 31 HP:0001510
6 irritability 31 HP:0000737
7 motor delay 31 HP:0001270
8 delayed eruption of teeth 31 HP:0000684
9 recurrent fractures 31 HP:0002757
10 flat occiput 31 HP:0005469
11 bone pain 31 HP:0002653
12 femoral bowing 31 HP:0002980
13 protuberant abdomen 31 HP:0001538
14 generalized hypotonia 31 HP:0001290
15 abdominal wall muscle weakness 31 HP:0009023
16 tibial bowing 31 HP:0002982
17 difficulty walking 31 HP:0002355
18 hypoplasia of dental enamel 31 HP:0006297
19 fibular bowing 31 HP:0010502
20 generalized aminoaciduria 31 HP:0002909
21 metaphyseal irregularity 31 HP:0003025
22 bowing of the legs 31 HP:0002979
23 elevated alkaline phosphatase 31 HP:0003155
24 elevated circulating parathyroid hormone level 31 HP:0003165
25 hypocalcemic seizures 31 HP:0002199
26 delayed epiphyseal ossification 31 HP:0002663
27 thin bony cortex 31 HP:0002753
28 difficulty standing 31 HP:0003698
29 sparse bone trabeculae 31 HP:0002752
30 bulging epiphyses 31 HP:0003013
31 enlargement of the wrists 31 HP:0003020
32 enlargement of the ankles 31 HP:0003029
33 secondary hyperparathyroidism 31 HP:0000867
34 widely patent fontanelles and sutures 31 HP:0004492
35 deformed rib cage 31 HP:0000886
36 enlargement of the costochondral junction 31 HP:0000920
37 subperiosteal bone resorption 31 HP:0003106
38 hypotonia 31 HP:0001252
39 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
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
enlargement of the costochondral junction
'bulging' of the costochondral junction

Head And Neck Teeth:
delayed tooth eruption
enamel hypoplasia

Abdomen External Features:
protuberant abdomen due to muscle weakness

Head And Neck Head:
frontal bossing

Laboratory Abnormalities:
hypophosphatemia
hypocalcemia
generalized aminoaciduria
increased serum alkaline phosphatase
increased serum parathyroid hormone (pth)
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

Clinical features from OMIM®:

264700 (Updated 20-May-2021)

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


muscle weakness; bone pain; difficulty standing

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

Drugs for Vitamin D Hydroxylation-Deficient Rickets, Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational 9002-64-6
2
Teriparatide Approved, Investigational 52232-67-4 16133850
3
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
4
Calcifediol Approved, Nutraceutical 19356-17-3 6433735 5283731
5 Hydroxycholecalciferols
6 Hormones
7 Vitamins
8 Calciferol
9 Calcium, Dietary
10
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Characterization of Suspected Partial 25-hydroxyvitamin D-1-alpha-hydroxylase Deficiency Completed NCT00754442 Teriparatide

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

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

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

# Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets, Type 1 29
2 Vitamin D-Dependent Rickets Type 1a 29 CYP27B1

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

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

40
Bone, Cortex, Small Intestine, Colon, Skin

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

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

(show top 50) (show all 62)
# Title Authors PMID Year
1
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. 6 57
9837822 1998
2
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. 57 6
9486994 1998
3
No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis. 6 61
23444327 2013
4
No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis. 6 61
23483640 2013
5
Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy. 61 6
21700898 2011
6
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 6 61
12050193 2002
7
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. 61 6
9415400 1997
8
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? 6
28548312 2017
9
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 6
25942481 2015
10
Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. 6
25284246 2015
11
CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells. 6
23423976 2013
12
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. 6
22443290 2012
13
Rare variants in the CYP27B1 gene are associated with multiple sclerosis. 6
22190362 2011
14
Vitamin D and African Americans. 6
16549493 2006
15
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. 6
15128933 2004
16
Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). 6
11737215 2001
17
No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. 6
10566658 1999
18
Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli. 6
10518789 1999
19
25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. 57
9295274 1997
20
Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. 57
1336301 1992
21
Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR. 57
1528850 1992
22
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 57
1937486 1991
23
Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis. 57
1971995 1990
24
Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers. 57
1973138 1990
25
Absence of renal 25-hydroxycholecalciferol-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets. 57
3082499 1986
26
[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach]. 57
4060342 1985
27
Vitamin D dependency: replacement therapy with calcitriol? 57
6265615 1981
28
The photoproduction of 1 alpha,25-dihydroxyvitamin D3 in skin: an approach to the therapy of vitamin-D-resistant syndromes. 57
6248779 1980
29
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. 57
308618 1978
30
Parathyroid hormone secretion in familial vitamin-D-resistant rickets. 57
4355232 1973
31
Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. 57
4357855 1973
32
Vitamin D dependency. 57
5445543 1970
33
The small intestine in vitamin D dependent rickets. 57
5442911 1970
34
Current concepts. Vitamin D. 57
4309963 1969
35
Laboratory findings in a child with pseudo-vitamin D deficiency rickets. 57
5800164 1969
36
Hereditary pseudo-vitamin D deficiency rickets. ("Hereditare pseudo-mangelrachitis"). 57
5706877 1968
37
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets]. 57
14488440 1961
38
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
39
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene. 61
31261480 2019
40
[Rickets/Osteomalacia. Vitamin D dependency.] 61
30269116 2018
41
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. 61
27399352 2016
42
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A. 61
27777911 2016
43
[Vitamin D dependency and its treatment]. 61
26813508 2016
44
Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation. 61
26734137 2015
45
Seizure as a presenting manifestation of vitamin D dependent rickets type 1. 61
25593852 2015
46
A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report. 61
25371233 2014
47
Seizure as a presenting manifestation of vitamin D dependent rickets type 1. 61
24910833 2013
48
[Updates on rickets and osteomalacia: vitamin D dependency]. 61
24076641 2013
49
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations. 61
21604088 2011
50
Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports. 61
22145480 2011

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

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

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP27B1 NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) SNV Pathogenic 267276 rs759208930 GRCh37: 12:58157449-58157449
GRCh38: 12:57763666-57763666
2 CYP27B1 NM_000785.4(CYP27B1):c.589+1G>A SNV Pathogenic 1667 rs761780097 GRCh37: 12:58159079-58159079
GRCh38: 12:57765296-57765296
3 CYP27B1 NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) SNV Pathogenic 1668 rs118204008 GRCh37: 12:58157581-58157581
GRCh38: 12:57763798-57763798
4 CYP27B1 CYP27B1, 5-BP DEL/6-BP INS Indel Pathogenic 1670 GRCh37:
GRCh38:
5 CYP27B1 NM_000785.4(CYP27B1):c.386+1G>A SNV Pathogenic 1671 rs770204470 GRCh37: 12:58159789-58159789
GRCh38: 12:57766006-57766006
6 CYP27B1 NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) SNV Pathogenic 1672 rs118204010 GRCh37: 12:58157931-58157931
GRCh38: 12:57764148-57764148
7 CYP27B1 NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) SNV Pathogenic 1673 rs118204011 GRCh37: 12:58158270-58158270
GRCh38: 12:57764487-57764487
8 CYP27B1 NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) SNV Pathogenic 1674 rs118204012 GRCh37: 12:58159103-58159103
GRCh38: 12:57765320-57765320
9 CYP27B1 NM_000785.4(CYP27B1):c.262del (p.Val88fs) Deletion Pathogenic 1664 rs387906260 GRCh37: 12:58159914-58159914
GRCh38: 12:57766131-57766131
10 CYP27B1 NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) SNV Pathogenic 265095 rs568165874 GRCh37: 12:58157521-58157521
GRCh38: 12:57763738-57763738
11 CYP27B1 NM_000785.4(CYP27B1):c.217_220del (p.Gly73fs) Deletion Pathogenic 1028375 GRCh37: 12:58159956-58159959
GRCh38: 12:57766173-57766176
12 CYP27B1 NM_000785.4(CYP27B1):c.1378del (p.Leu460fs) Deletion Pathogenic 1034296 GRCh37: 12:58157429-58157429
GRCh38: 12:57763646-57763646
13 CYP27B1 NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) SNV Pathogenic 1666 rs118204007 GRCh37: 12:58158538-58158538
GRCh38: 12:57764755-57764755
14 CYP27B1 CYP27B1, 7-BP DUP Duplication Pathogenic 1665 GRCh37:
GRCh38:
15 CYP27B1 NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) SNV Pathogenic 1661 rs28934607 GRCh37: 12:58157952-58157952
GRCh38: 12:57764169-57764169
16 CYP27B1 NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) SNV Pathogenic 1660 rs28934606 GRCh37: 12:58158293-58158293
GRCh38: 12:57764510-57764510
17 CYP27B1 NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) SNV Pathogenic 1659 rs28934605 GRCh37: 12:58159802-58159802
GRCh38: 12:57766019-57766019
18 CYP27B1 NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) SNV Pathogenic 380287 rs1057520815 GRCh37: 12:58159871-58159871
GRCh38: 12:57766088-57766088
19 CYP27B1 NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) SNV Pathogenic 802871 rs767480544 GRCh37: 12:58157450-58157450
GRCh38: 12:57763667-57763667
20 CYP27B1 NM_000785.4(CYP27B1):c.1312_1318CCCACCC[3] (p.Phe443fs) Microsatellite Pathogenic 279798 rs780950819 GRCh37: 12:58157481-58157482
GRCh38: 12:57763698-57763699
21 CYP27B1 NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) SNV Pathogenic 1669 rs118204009 GRCh37: 12:58157930-58157930
GRCh38: 12:57764147-57764147
22 CYP27B1 NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) SNV Pathogenic 1658 rs28934604 GRCh37: 12:58159856-58159856
GRCh38: 12:57766073-57766073
23 CYP27B1 NM_000785.4(CYP27B1):c.1312_1318CCCACCC[3] (p.Phe443fs) Microsatellite Pathogenic 279798 rs780950819 GRCh37: 12:58157481-58157482
GRCh38: 12:57763698-57763699
24 CYP27B1 NM_000785.4(CYP27B1):c.631del (p.Glu211fs) Deletion Pathogenic 1662 rs387906258 GRCh37: 12:58158953-58158953
GRCh38: 12:57765170-57765170
25 CYP27B1 NM_000785.4(CYP27B1):c.693del (p.Thr232fs) Deletion Pathogenic 1663 rs387906259 GRCh37: 12:58158891-58158891
GRCh38: 12:57765108-57765108
26 CYP27B1 NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) SNV Likely pathogenic 522958 rs555068245 GRCh37: 12:58157432-58157432
GRCh38: 12:57763649-57763649
27 CYP2R1 NM_024514.4(CYP2R1):c.296T>C (p.Leu99Pro) SNV Likely pathogenic 2134 rs61495246 GRCh37: 11:14907393-14907393
GRCh38: 11:14885847-14885847
28 CYP27B1 NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) SNV Likely pathogenic 1658 rs28934604 GRCh37: 12:58159856-58159856
GRCh38: 12:57766073-57766073
29 CYP27B1 NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) SNV Likely pathogenic 1669 rs118204009 GRCh37: 12:58157930-58157930
GRCh38: 12:57764147-57764147
30 CYP27B1 NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) SNV Uncertain significance 880897 GRCh37: 12:58157521-58157521
GRCh38: 12:57763738-57763738
31 CYP27B1 NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) SNV Uncertain significance 880898 GRCh37: 12:58157577-58157577
GRCh38: 12:57763794-57763794
32 CYP27B1 NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) SNV Uncertain significance 632195 rs1565811124 GRCh37: 12:58158834-58158834
GRCh38: 12:57765051-57765051
33 CYP27B1 NM_000785.4(CYP27B1):c.*76G>A SNV Uncertain significance 309994 rs147119803 GRCh37: 12:58156849-58156849
GRCh38: 12:57763066-57763066
34 CYP27B1 NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) SNV Uncertain significance 309999 rs886049726 GRCh37: 12:58158706-58158706
GRCh38: 12:57764923-57764923
35 CYP27B1 NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) SNV Uncertain significance 310002 rs886049728 GRCh37: 12:58159232-58159232
GRCh38: 12:57765449-57765449
36 CYP27B1 NM_000785.4(CYP27B1):c.*301T>C SNV Uncertain significance 309992 rs886049723 GRCh37: 12:58156624-58156624
GRCh38: 12:57762841-57762841
37 CYP27B1 NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) SNV Uncertain significance 310004 rs150648140 GRCh37: 12:58160785-58160785
GRCh38: 12:57767002-57767002
38 CYP27B1 NM_000785.4(CYP27B1):c.*472C>A SNV Uncertain significance 309989 rs886049721 GRCh37: 12:58156453-58156453
GRCh38: 12:57762670-57762670
39 CYP27B1 NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) SNV Uncertain significance 309995 rs201629800 GRCh37: 12:58156947-58156947
GRCh38: 12:57763164-57763164
40 CYP27B1 NM_000785.4(CYP27B1):c.-22C>G SNV Uncertain significance 310005 rs146281435 GRCh37: 12:58160846-58160846
GRCh38: 12:57767063-57767063
41 CYP27B1 NM_000785.4(CYP27B1):c.348C>T (p.His116=) SNV Uncertain significance 310003 rs372771210 GRCh37: 12:58159828-58159828
GRCh38: 12:57766045-57766045
42 CYP27B1 NM_000785.4(CYP27B1):c.*722C>G SNV Uncertain significance 309987 rs886049720 GRCh37: 12:58156203-58156203
GRCh38: 12:57762420-57762420
43 CYP27B1 NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) SNV Uncertain significance 310000 rs886049727 GRCh37: 12:58158796-58158796
GRCh38: 12:57765013-57765013
44 CYP27B1 NM_000785.4(CYP27B1):c.*295G>A SNV Uncertain significance 309993 rs886049724 GRCh37: 12:58156630-58156630
GRCh38: 12:57762847-57762847
45 CYP27B1 NM_000785.4(CYP27B1):c.*446G>A SNV Uncertain significance 309990 rs763711308 GRCh37: 12:58156479-58156479
GRCh38: 12:57762696-57762696
46 CYP27B1 NM_000785.4(CYP27B1):c.801C>T (p.His267=) SNV Uncertain significance 309998 rs150334927 GRCh37: 12:58158699-58158699
GRCh38: 12:57764916-57764916
47 CYP27B1 NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) SNV Uncertain significance 309996 rs886049725 GRCh37: 12:58157422-58157422
GRCh38: 12:57763639-57763639
48 CYP27B1 NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) SNV Uncertain significance 310001 rs368126466 GRCh37: 12:58159128-58159128
GRCh38: 12:57765345-57765345
49 CYP27B1 NM_000785.4(CYP27B1):c.*635G>A SNV Uncertain significance 309988 rs533718329 GRCh37: 12:58156290-58156290
GRCh38: 12:57762507-57762507
50 CYP27B1 NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) SNV Uncertain significance 309997 rs151335249 GRCh37: 12:58158240-58158240
GRCh38: 12:57764457-57764457

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

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CYP27B1 p.Arg107His VAR_016952 rs28934604
2 CYP27B1 p.Gly125Glu VAR_016953 rs28934605
3 CYP27B1 p.Glu189Gly VAR_016954 rs118204012
4 CYP27B1 p.Thr321Arg VAR_016955 rs118204007
5 CYP27B1 p.Arg335Pro VAR_016956 rs28934606
6 CYP27B1 p.Leu343Phe VAR_016957 rs118204011
7 CYP27B1 p.Pro382Ser VAR_016958 rs28934607
8 CYP27B1 p.Arg389His VAR_016959 rs118204009
9 CYP27B1 p.Arg389Gly VAR_016960 rs118204010
10 CYP27B1 p.Thr409Ile VAR_016961 rs118204008
11 CYP27B1 p.Glu189Lys VAR_016967
12 CYP27B1 p.Arg389Cys VAR_016968 rs118204010
13 CYP27B1 p.Gln65His VAR_016969 rs868704228
14 CYP27B1 p.Ser323Tyr VAR_016970
15 CYP27B1 p.Arg429Pro VAR_016971 rs568165874
16 CYP27B1 p.Arg453Cys VAR_016972 rs767480544
17 CYP27B1 p.Val478Gly VAR_016973
18 CYP27B1 p.Pro497Arg VAR_016974 rs116179903

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

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

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

Pathways related to Vitamin D Hydroxylation-Deficient Rickets, Type 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 CYP2R1 CYP27B1
2
Show member pathways
11.86 CYP2R1 CYP27B1
3
Show member pathways
11.49 CYP2R1 CYP27B1
4
Show member pathways
10.84 CYP2R1 CYP27B1
5 9.62 CYP2R1 CYP27B1

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

Biological processes related to Vitamin D Hydroxylation-Deficient Rickets, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.32 CYP2R1 CYP27B1
2 vitamin D metabolic process GO:0042359 9.26 CYP2R1 CYP27B1
3 vitamin metabolic process GO:0006766 9.16 CYP2R1 CYP27B1
4 calcitriol biosynthetic process from calciol GO:0036378 8.96 CYP2R1 CYP27B1
5 vitamin D biosynthetic process GO:0042368 8.62 CYP2R1 CYP27B1

Molecular functions related to Vitamin D Hydroxylation-Deficient Rickets, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.32 CYP2R1 CYP27B1
2 heme binding GO:0020037 9.26 CYP2R1 CYP27B1
3 iron ion binding GO:0005506 9.16 CYP2R1 CYP27B1
4 monooxygenase activity GO:0004497 8.96 CYP2R1 CYP27B1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.62 CYP2R1 CYP27B1

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

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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