VDDI
MCID: HYP636
MIFTS: 39

Hypocalcemic Vitamin D-Dependent Rickets (VDDI)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypocalcemic Vitamin D-Dependent Rickets

MalaCards integrated aliases for Hypocalcemic Vitamin D-Dependent Rickets:

Name: Hypocalcemic Vitamin D-Dependent Rickets 58
Vitamin D-Dependent Rickets, Type 1 70
Vitamin D Dependent Rickets Type I 58
Pseudovitamin D-Deficient Rickets 58
1-Alpha-Hydroxylase Deficiency 58
Vitamin D-Dependency Type I 58
Vddr-I 58
Pddri 58
Vddi 58

Characteristics:

Orphanet epidemiological data:

58
hypocalcemic vitamin d-dependent rickets
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E55.0
UMLS via Orphanet 71 C0268689
Orphanet 58 ORPHA289157
UMLS 70 C0268689

Summaries for Hypocalcemic Vitamin D-Dependent Rickets

MalaCards based summary : Hypocalcemic Vitamin D-Dependent Rickets, also known as vitamin d-dependent rickets, type 1, is related to vitamin d hydroxylation-deficient rickets, type 1a and vitamin d-dependent rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Hypocalcemic Vitamin D-Dependent Rickets 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 Teriparatide and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and colon, and related phenotypes are rickets and low serum calcitriol

Related Diseases for Hypocalcemic Vitamin D-Dependent Rickets

Diseases related to Hypocalcemic Vitamin D-Dependent Rickets via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 vitamin d hydroxylation-deficient rickets, type 1a 31.4 CYP2R1 CYP27B1
2 vitamin d-dependent rickets 29.5 CYP2R1 CYP27B1
3 rickets 29.4 CYP2R1 CYP27B1
4 autosomal recessive disease 10.4
5 secondary hyperparathyroidism 10.3
6 hyperparathyroidism 10.3
7 hypotonia 10.3
8 hypophosphatemia 10.2
9 amelogenesis imperfecta 10.2
10 alopecia 10.2
11 hypoglycemia 10.2
12 cerebrotendinous xanthomatosis 10.0
13 xanthomatosis 10.0
14 malignant choroid melanoma 9.7 CYP2R1 CYP27B1

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



Diseases related to Hypocalcemic Vitamin D-Dependent Rickets

Symptoms & Phenotypes for Hypocalcemic Vitamin D-Dependent Rickets

Human phenotypes related to Hypocalcemic Vitamin D-Dependent Rickets:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rickets 58 31 obligate (100%) Obligate (100%) HP:0002748
2 low serum calcitriol 58 31 obligate (100%) Obligate (100%) HP:0012052
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
5 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
6 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
7 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
8 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
9 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
10 tetany 58 31 hallmark (90%) Very frequent (99-80%) HP:0001281
11 genu varum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002970
12 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
13 femoral bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002980
14 increased susceptibility to fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002659
15 tibial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002982
16 generalized aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002909
17 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
18 delayed epiphyseal ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002663
19 thin bony cortex 58 31 hallmark (90%) Very frequent (99-80%) HP:0002753
20 sparse bone trabeculae 58 31 hallmark (90%) Very frequent (99-80%) HP:0002752
21 enlargement of the wrists 58 31 hallmark (90%) Very frequent (99-80%) HP:0003020
22 enlargement of the ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003029
23 elevated alkaline phosphatase of bone origin 58 31 hallmark (90%) Very frequent (99-80%) HP:0010639
24 secondary hyperparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000867
25 wide cranial sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0010537
26 deformed rib cage 58 31 hallmark (90%) Very frequent (99-80%) HP:0000886
27 rachitic rosary 58 31 hallmark (90%) Very frequent (99-80%) HP:0000897
28 enlargement of the costochondral junction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000920
29 subperiosteal bone resorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0003106
30 irregular, rachitic-like metaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0005042
31 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
32 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
33 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
34 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
35 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
36 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
37 protuberant abdomen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001538
38 hypoplasia of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0006297
39 hypocalcemic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002199
40 hypocalcemia 58 Obligate (100%)

UMLS symptoms related to Hypocalcemic Vitamin D-Dependent Rickets:


muscle weakness; bone pain; difficulty standing

Drugs & Therapeutics for Hypocalcemic Vitamin D-Dependent Rickets

Drugs for Hypocalcemic Vitamin D-Dependent Rickets (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Genetic Tests for Hypocalcemic Vitamin D-Dependent Rickets

Anatomical Context for Hypocalcemic Vitamin D-Dependent Rickets

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

40
Bone, Cortex, Colon

Publications for Hypocalcemic Vitamin D-Dependent Rickets

Articles related to Hypocalcemic Vitamin D-Dependent Rickets:

(show all 43)
# Title Authors PMID Year
1
Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy. 6 61
21700898 2011
2
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 6 61
12050193 2002
3
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? 6
28548312 2017
4
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 6
25942481 2015
5
Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. 6
25284246 2015
6
CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells. 6
23423976 2013
7
Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency. 6
22855339 2012
8
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. 6
22443290 2012
9
Vitamin D and African Americans. 6
16549493 2006
10
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. 6
15128933 2004
11
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
12
Case-control study of factors associated with nutritional rickets in Nigerian children. 6
10969262 2000
13
Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli. 6
10518789 1999
14
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. 6
9837822 1998
15
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. 6
9486994 1998
16
A possible genetic defect in 25-hydroxylation as a cause of rickets. 6
8201479 1994
17
Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention. 61
32645757 2020
18
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
19
[Rickets/Osteomalacia. Vitamin D dependency.] 61
30269116 2018
20
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. 61
27399352 2016
21
[Vitamin D dependency and its treatment]. 61
26813508 2016
22
Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation. 61
26734137 2015
23
Seizure as a presenting manifestation of vitamin D dependent rickets type 1. 61
25593852 2015
24
A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report. 61
25371233 2014
25
Seizure as a presenting manifestation of vitamin D dependent rickets type 1. 61
24910833 2013
26
[Updates on rickets and osteomalacia: vitamin D dependency]. 61
24076641 2013
27
No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis. 61
23483640 2013
28
No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis. 61
23444327 2013
29
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations. 61
21604088 2011
30
Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports. 61
22145480 2011
31
A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. 61
20534770 2010
32
Genetic disorders and defects in vitamin d action. 61
20511055 2010
33
Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. 61
19095780 2009
34
Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria. 61
18394115 2008
35
Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. 61
17488797 2007
36
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. 61
15972816 2005
37
1alpha-Hydroxylase and the action of vitamin D. 61
11013342 2000
38
Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression. 61
10912530 2000
39
The renal function of 25-hydroxyvitamin D3-1alpha-hydroxylase. 61
10411336 1999
40
Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha. 61
9428799 1997
41
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. 61
9415400 1997
42
[Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case]. 61
8767587 1996
43
Effect of 1,25-dihydroxyvitamin D deficiency on the metabolic clearance rate of 1,25-dihydroxyvitamin D3: studies using pigs with vitamin D-dependent rickets type 1. 61
2996826 1985

Variations for Hypocalcemic Vitamin D-Dependent Rickets

ClinVar genetic disease variations for Hypocalcemic Vitamin D-Dependent Rickets:

6 (show all 49)
# 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_024514.4(CYP2R1):c.296T>C (p.Leu99Pro) SNV Pathogenic 2134 rs61495246 GRCh37: 11:14907393-14907393
GRCh38: 11:14885847-14885847
5 CYP27B1 NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) SNV Pathogenic 802871 rs767480544 GRCh37: 12:58157450-58157450
GRCh38: 12:57763667-57763667
6 CYP27B1 NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) SNV Pathogenic 380287 rs1057520815 GRCh37: 12:58159871-58159871
GRCh38: 12:57766088-57766088
7 CYP27B1 NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) SNV Pathogenic 267276 rs759208930 GRCh37: 12:58157449-58157449
GRCh38: 12:57763666-57763666
8 CYP27B1 NM_000785.4(CYP27B1):c.1312_1318CCCACCC[3] (p.Phe443fs) Microsatellite Pathogenic 279798 rs780950819 GRCh37: 12:58157481-58157482
GRCh38: 12:57763698-57763699
9 CYP2R1 NM_024514.5(CYP2R1):c.1120dup (p.Ile374fs) Duplication Pathogenic 1029900 GRCh37: 11:14900869-14900870
GRCh38: 11:14879323-14879324
10 CYP27B1 NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) SNV Likely pathogenic 522958 rs555068245 GRCh37: 12:58157432-58157432
GRCh38: 12:57763649-57763649
11 CYP2R1 NM_024514.4(CYP2R1):c.296T>C (p.Leu99Pro) SNV Likely pathogenic 2134 rs61495246 GRCh37: 11:14907393-14907393
GRCh38: 11:14885847-14885847
12 CYP27B1 NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) SNV Likely pathogenic 1658 rs28934604 GRCh37: 12:58159856-58159856
GRCh38: 12:57766073-57766073
13 CYP27B1 NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) SNV Likely pathogenic 1669 rs118204009 GRCh37: 12:58157930-58157930
GRCh38: 12:57764147-57764147
14 CYP27B1 NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) SNV Uncertain significance 632195 rs1565811124 GRCh37: 12:58158834-58158834
GRCh38: 12:57765051-57765051
15 CYP27B1 NM_000785.4(CYP27B1):c.*345T>C SNV Uncertain significance 884178 GRCh37: 12:58156580-58156580
GRCh38: 12:57762797-57762797
16 CYP27B1 NM_000785.4(CYP27B1):c.*329T>C SNV Uncertain significance 884179 GRCh37: 12:58156596-58156596
GRCh38: 12:57762813-57762813
17 CYP27B1 NM_000785.4(CYP27B1):c.*215G>C SNV Uncertain significance 884180 GRCh37: 12:58156710-58156710
GRCh38: 12:57762927-57762927
18 CYP27B1 NM_000785.4(CYP27B1):c.*143G>A SNV Uncertain significance 884181 GRCh37: 12:58156782-58156782
GRCh38: 12:57762999-57762999
19 CYP27B1 NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) SNV Uncertain significance 880897 GRCh37: 12:58157521-58157521
GRCh38: 12:57763738-57763738
20 CYP27B1 NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) SNV Uncertain significance 880898 GRCh37: 12:58157577-58157577
GRCh38: 12:57763794-57763794
21 CYP27B1 NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) SNV Uncertain significance 882266 GRCh37: 12:58159215-58159215
GRCh38: 12:57765432-57765432
22 CYP27B1 NM_000785.4(CYP27B1):c.386+10C>T SNV Uncertain significance 749237 rs376212738 GRCh37: 12:58159780-58159780
GRCh38: 12:57765997-57765997
23 CYP27B1 NM_000785.4(CYP27B1):c.*764T>A SNV Uncertain significance 882468 GRCh37: 12:58156161-58156161
GRCh38: 12:57762378-57762378
24 CYP27B1 NM_000785.4(CYP27B1):c.*426T>C SNV Uncertain significance 882469 GRCh37: 12:58156499-58156499
GRCh38: 12:57762716-57762716
25 CYP27B1 NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) SNV Uncertain significance 882531 GRCh37: 12:58159858-58159858
GRCh38: 12:57766075-57766075
26 CYP27B1 NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) SNV Uncertain significance 882532 GRCh37: 12:58160708-58160708
GRCh38: 12:57766925-57766925
27 CYP27B1 NM_000785.4(CYP27B1):c.*76G>A SNV Uncertain significance 309994 rs147119803 GRCh37: 12:58156849-58156849
GRCh38: 12:57763066-57763066
28 CYP27B1 NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) SNV Uncertain significance 309999 rs886049726 GRCh37: 12:58158706-58158706
GRCh38: 12:57764923-57764923
29 CYP27B1 NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) SNV Uncertain significance 310002 rs886049728 GRCh37: 12:58159232-58159232
GRCh38: 12:57765449-57765449
30 CYP27B1 NM_000785.4(CYP27B1):c.*301T>C SNV Uncertain significance 309992 rs886049723 GRCh37: 12:58156624-58156624
GRCh38: 12:57762841-57762841
31 CYP27B1 NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) SNV Uncertain significance 310004 rs150648140 GRCh37: 12:58160785-58160785
GRCh38: 12:57767002-57767002
32 CYP27B1 NM_000785.4(CYP27B1):c.*472C>A SNV Uncertain significance 309989 rs886049721 GRCh37: 12:58156453-58156453
GRCh38: 12:57762670-57762670
33 CYP27B1 NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) SNV Uncertain significance 309997 rs151335249 GRCh37: 12:58158240-58158240
GRCh38: 12:57764457-57764457
34 CYP27B1 NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) SNV Uncertain significance 309995 rs201629800 GRCh37: 12:58156947-58156947
GRCh38: 12:57763164-57763164
35 CYP27B1 NM_000785.4(CYP27B1):c.-22C>G SNV Uncertain significance 310005 rs146281435 GRCh37: 12:58160846-58160846
GRCh38: 12:57767063-57767063
36 CYP27B1 NM_000785.4(CYP27B1):c.348C>T (p.His116=) SNV Uncertain significance 310003 rs372771210 GRCh37: 12:58159828-58159828
GRCh38: 12:57766045-57766045
37 CYP27B1 NM_000785.4(CYP27B1):c.*722C>G SNV Uncertain significance 309987 rs886049720 GRCh37: 12:58156203-58156203
GRCh38: 12:57762420-57762420
38 CYP27B1 NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) SNV Uncertain significance 310000 rs886049727 GRCh37: 12:58158796-58158796
GRCh38: 12:57765013-57765013
39 CYP27B1 NM_000785.4(CYP27B1):c.*295G>A SNV Uncertain significance 309993 rs886049724 GRCh37: 12:58156630-58156630
GRCh38: 12:57762847-57762847
40 CYP27B1 NM_000785.4(CYP27B1):c.*446G>A SNV Uncertain significance 309990 rs763711308 GRCh37: 12:58156479-58156479
GRCh38: 12:57762696-57762696
41 CYP27B1 NM_000785.4(CYP27B1):c.801C>T (p.His267=) SNV Uncertain significance 309998 rs150334927 GRCh37: 12:58158699-58158699
GRCh38: 12:57764916-57764916
42 CYP27B1 NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) SNV Uncertain significance 309996 rs886049725 GRCh37: 12:58157422-58157422
GRCh38: 12:57763639-57763639
43 CYP27B1 NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) SNV Uncertain significance 310001 rs368126466 GRCh37: 12:58159128-58159128
GRCh38: 12:57765345-57765345
44 CYP27B1 NM_000785.4(CYP27B1):c.*635G>A SNV Uncertain significance 309988 rs533718329 GRCh37: 12:58156290-58156290
GRCh38: 12:57762507-57762507
45 CYP2R1 NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) SNV Uncertain significance 930898 GRCh37: 11:14900809-14900809
GRCh38: 11:14879263-14879263
46 CYP27B1 NM_000785.4(CYP27B1):c.*415G>A SNV Likely benign 884177 GRCh37: 12:58156510-58156510
GRCh38: 12:57762727-57762727
47 CYP27B1 NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) SNV Likely benign 880899 GRCh37: 12:58158558-58158558
GRCh38: 12:57764775-57764775
48 CYP27B1 NM_000785.4(CYP27B1):c.*77G>A SNV Likely benign 884182 GRCh37: 12:58156848-58156848
GRCh38: 12:57763065-57763065
49 CYP27B1 NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) SNV Benign 882265 GRCh37: 12:58159173-58159173
GRCh38: 12:57765390-57765390

Expression for Hypocalcemic Vitamin D-Dependent Rickets

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

Pathways for Hypocalcemic Vitamin D-Dependent Rickets

Pathways related to Hypocalcemic Vitamin D-Dependent Rickets 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 Hypocalcemic Vitamin D-Dependent Rickets

Biological processes related to Hypocalcemic Vitamin D-Dependent Rickets 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 Hypocalcemic Vitamin D-Dependent Rickets 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 Hypocalcemic Vitamin D-Dependent Rickets

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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