VDDI
MCID: VTM018
MIFTS: 45

Vitamin D-Dependent Rickets Type I (VDDI) malady

Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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Summaries for Vitamin D-Dependent Rickets Type I

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MalaCards based summary: Vitamin D-Dependent Rickets Type I, also known as 1-alpha-hydroxylase deficiency, is related to rickets and cerebrotendinous xanthomatosis, and has symptoms including An important gene associated with Vitamin D-Dependent Rickets Type I is CYP27B1 (cytochrome P450, family 27, subfamily B, polypeptide 1), and among its related pathways are superpathway of cholesterol biosynthesis and Metabolism of steroid hormones and vitamin D. The compounds alfacalcidol and eb 1089 have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver.

Descriptions from OMIM:46 264700,600081

Aliases & Classifications for Vitamin D-Dependent Rickets Type I

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Vitamin D-Dependent Rickets Type I, Aliases & Descriptions:

Name: Vitamin D-Dependent Rickets Type I 20 22 62
1-Alpha-Hydroxylase Deficiency 48 62
Hypocalcemic Vitamin D-Dependent Rickets 48
Vitamin D-Dependent Rickets, Type I 46
Vitamin D Dependent Rickets Type I 48
 
Pseudovitamin D-Deficient Rickets 48
Vitamin D-Dependency Type I 48
Vddr-I 48
Pddri 48
Vddi 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
1-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 E55.0

Related Diseases for Vitamin D-Dependent Rickets Type I

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Diseases in the Vitamin D-Dependent Rickets Type I family:

Vitamin D-Dependent Rickets Type Ii

Diseases related to Vitamin D-Dependent Rickets Type I via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1rickets30.8CYP27B1, CYP2R1, CYP27A1
2cerebrotendinous xanthomatosis30.4FDX1, CYP27A1
3xanthomatosis10.4

Symptoms for Vitamin D-Dependent Rickets Type I

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Symptoms by clinical synopsis from OMIM:

264700

Clinical features from OMIM:

264700,600081

HPO human phenotypes related to Vitamin D-Dependent Rickets Type I:

(show all 39)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 delayed eruption of teeth HP:0000684
3 irritability HP:0000737
4 secondary hyperparathyroidism HP:0000867
5 deformed rib cage HP:0000886
6 bulging of the costochondral junction HP:0000893
7 enlargement of the costochondral junction HP:0000920
8 muscular hypotonia HP:0001252
9 motor delay HP:0001270
10 failure to thrive HP:0001508
11 growth delay HP:0001510
12 protuberant abdomen HP:0001538
13 frontal bossing HP:0002007
14 hypophosphatemia HP:0002148
15 hypocalcemic seizures HP:0002199
16 difficulty walking HP:0002355
17 bone pain HP:0002653
18 delayed epiphyseal ossification HP:0002663
19 rickets HP:0002748
20 sparse bone trabeculae HP:0002752
21 thin bony cortex HP:0002753
22 recurrent fractures HP:0002757
23 generalized aminoaciduria HP:0002909
24 bowing of the legs HP:0002979
25 femoral bowing HP:0002980
26 tibial bowing HP:0002982
27 bulging epiphyses HP:0003013
28 enlargement of the wrists HP:0003020
29 metaphyseal irregularity HP:0003025
30 enlargement of the ankles HP:0003029
31 subperiosteal erosions due to secondary hyperparathyroidism HP:0003106
32 elevated alkaline phosphatase HP:0003155
33 elevated circulating parathyroid hormone (pth) level HP:0003165
34 difficulty standing HP:0003698
35 widely patent fontanelles and sutures HP:0004492
36 flat occiput HP:0005469
37 hypoplasia of dental enamel HP:0006297
38 abdominal wall muscle weakness HP:0009023
39 fibular bowing HP:0010502

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type I

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Drug clinical trials:

Search ClinicalTrials for Vitamin D-Dependent Rickets Type I

Search NIH Clinical Center for Vitamin D-Dependent Rickets Type I

Genetic Tests for Vitamin D-Dependent Rickets Type I

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Genetic tests related to Vitamin D-Dependent Rickets Type I:

id Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets Type I20 CYP27B1
2 Vitamin D-Dependent Rickets, Type 122

Anatomical Context for Vitamin D-Dependent Rickets Type I

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

32
Bone, Kidney, Liver

Animal Models for Vitamin D-Dependent Rickets Type I or affiliated genes

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Publications for Vitamin D-Dependent Rickets Type I

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Articles related to Vitamin D-Dependent Rickets Type I:

idTitleAuthorsYear
1
First Australian report of vitamin D-dependent rickets type I. (25296067)
2014
2
Novel vitamin D 1I+-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient. (21869486)
2011
3
Vitamin D dependent rickets type I. (21503197)
2011
4
Oral and dental manifestations of vitamin D-dependent rickets type I: report of a pediatric case. (12789152)
2003
5
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). (11737215)
2001
6
The molecular basis of vitamin D-dependent rickets type I. (11603564)
2001
7
Genetic mutation in the human 25-hydroxyvitamin D3 1alpha-hydroxylase gene causes vitamin D-dependent rickets type I. (10612418)
1999
8
Vitamin D-dependent rickets type I and type II. (9316302)
1997
9
Effect of 1,25-dihydroxyvitamin D3 on plasma concentrations of calcium-binding protein in normal and rachitic (vitamin D-dependent rickets type I) pigs. (3668440)
1987
10
Vitamin D-dependent rickets type I in pigs. (2996825)
1985

Variations for Vitamin D-Dependent Rickets Type I

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UniProtKB/Swiss-Prot genetic disease variations for Vitamin D-Dependent Rickets Type I:

64 (show all 18)
id Symbol AA change Variation ID SNP ID
1CYP27B1p.Arg107HisVAR_016952rs28934604
2CYP27B1p.Gly125GluVAR_016953rs28934605
3CYP27B1p.Glu189GlyVAR_016954
4CYP27B1p.Thr321ArgVAR_016955
5CYP27B1p.Arg335ProVAR_016956rs28934606
6CYP27B1p.Leu343PheVAR_016957
7CYP27B1p.Pro382SerVAR_016958rs28934607
8CYP27B1p.Arg389HisVAR_016959
9CYP27B1p.Arg389GlyVAR_016960
10CYP27B1p.Thr409IleVAR_016961
11CYP27B1p.Glu189LysVAR_016967
12CYP27B1p.Arg389CysVAR_016968
13CYP27B1p.Gln65HisVAR_016969
14CYP27B1p.Ser323TyrVAR_016970
15CYP27B1p.Arg429ProVAR_016971
16CYP27B1p.Arg453CysVAR_016972
17CYP27B1p.Val478GlyVAR_016973
18CYP27B1p.Pro497ArgVAR_016974

Clinvar genetic disease variations for Vitamin D-Dependent Rickets Type I:

6 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1CYP27B1NM_000785.3(CYP27B1): c.320G> A (p.Arg107His)single nucleotide variantPathogenicrs28934604GRCh37Chr 12, 58159856: 58159856
2CYP27B1NM_000785.3(CYP27B1): c.374G> A (p.Gly125Glu)single nucleotide variantPathogenicrs28934605GRCh37Chr 12, 58159802: 58159802
3CYP27B1NM_000785.3(CYP27B1): c.1004G> C (p.Arg335Pro)single nucleotide variantPathogenicrs28934606GRCh37Chr 12, 58158293: 58158293
4CYP27B1NM_000785.3(CYP27B1): c.1144C> T (p.Pro382Ser)single nucleotide variantPathogenicrs28934607GRCh37Chr 12, 58157952: 58157952
5CYP27B1NM_000785.3(CYP27B1): c.630delG (p.Glu211Argfs)deletionPathogenicrs387906258GRCh37Chr 12, 58158954: 58158954
6CYP27B1NM_000785.3(CYP27B1): c.692delC (p.Thr232Argfs)deletionPathogenicrs387906259GRCh37Chr 12, 58158892: 58158892
7CYP27B1NM_000785.3(CYP27B1): c.262delG (p.Val88Trpfs)deletionPathogenicrs387906260GRCh37Chr 12, 58159914: 58159914
8CYP27B1CYP27B1, 7-BP DUPduplicationPathogenic
9CYP27B1NM_000785.3(CYP27B1): c.962C> G (p.Thr321Arg)single nucleotide variantPathogenicrs118204007GRCh37Chr 12, 58158538: 58158538
10CYP27B1CYP27B1, IVS3, G-A, +1single nucleotide variantPathogenic
11CYP27B1NM_000785.3(CYP27B1): c.1226C> T (p.Thr409Ile)single nucleotide variantPathogenicrs118204008GRCh37Chr 12, 58157581: 58157581
12CYP27B1NM_000785.3(CYP27B1): c.1166G> A (p.Arg389His)single nucleotide variantPathogenicrs118204009GRCh37Chr 12, 58157930: 58157930
13CYP27B1CYP27B1, 5-BP DEL/6-BP INSindelPathogenic
14CYP27B1CYP27B1, IVS2, G-A, +1single nucleotide variantPathogenic
15CYP27B1NM_000785.3(CYP27B1): c.1165C> G (p.Arg389Gly)single nucleotide variantPathogenicrs118204010GRCh37Chr 12, 58157931: 58157931
16CYP27B1NM_000785.3(CYP27B1): c.1027C> T (p.Leu343Phe)single nucleotide variantPathogenicrs118204011GRCh37Chr 12, 58158270: 58158270
17CYP27B1NM_000785.3(CYP27B1): c.566A> G (p.Glu189Gly)single nucleotide variantPathogenicrs118204012GRCh37Chr 12, 58159103: 58159103
18CYP2R1NM_024514.4(CYP2R1): c.296T> C (p.Leu99Pro)single nucleotide variantPathogenicrs61495246GRCh37Chr 11, 14907393: 14907393

Expression for genes affiliated with Vitamin D-Dependent Rickets Type I

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Expression patterns in normal tissues for genes affiliated with Vitamin D-Dependent Rickets Type I

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

Pathways for genes affiliated with Vitamin D-Dependent Rickets Type I

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Pathways related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cholesterol biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
9.3CYP27B1, CYP2R1
2
Show member pathways
9.3CYP27B1, CYP2R1
3
Show member pathways
8.5CYP27B1, CYP2R1, CYP27A1
48.5CYP2R1, CYP27A1, CYP27B1
5
Show member pathways
8.5CYP27B1, CYP27A1, CYP2R1
6
Show member pathways
8.0CYP2R1, CYP27B1, FDX1, CYP27A1

Compounds for genes affiliated with Vitamin D-Dependent Rickets Type I

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Sources:
44Novoseek, 61Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1alfacalcidol44 61 1111.4CYP27B1, CYP27A1
2eb 108944 6110.3CYP27B1, CYP27A1
3sterol449.1FDX1, CYP27A1
4retinoid449.1CYP27B1, CYP27A1
51,25 dihydroxy vitamin d3448.9FDX1, CYP27B1, CYP27A1
6calcitriol44 61 24 1111.8CYP27B1, CYP27A1
7Ergocalciferol24 119.8CYP27A1, CYP2R1, CYP27B1
8Vitamin D3248.8CYP27B1, CYP2R1, CYP27A1
9NADP248.8CYP27A1, CYP2R1, CYP27B1
10cholesterol44 28 24 1111.8CYP27A1, CYP27B1, FDX1
11heme28 24 1110.7CYP27A1, CYP2R1, CYP27B1
12steroid448.7FDX1, CYP27B1, CYP27A1
13vitamin d448.7CYP27B1, CYP2R1, CYP27A1
14oxygen44 249.7CYP27A1, CYP27B1, FDX1
15lipid448.5CYP27A1, CYP27B1, FDX1
1625-hydroxyvitamin d448.3FDX1, CYP27B1, CYP2R1, CYP27A1
17nadph44 249.3CYP27A1, CYP2R1, CYP27B1, FDX1

GO Terms for genes affiliated with Vitamin D-Dependent Rickets Type I

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Cellular components related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.1FDX1, CYP27A1

Biological processes related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D metabolic processGO:0423599.4CYP27B1, CYP2R1
2vitamin metabolic processGO:0067669.3CYP27B1, CYP2R1
3steroid metabolic processGO:0082029.2CYP27B1, CYP2R1
4cholesterol metabolic processGO:0082038.8FDX1, CYP27A1
5xenobiotic metabolic processGO:0068058.6CYP27B1, CYP2R1, CYP27A1
6small molecule metabolic processGO:0442818.0CYP27A1, CYP2R1, CYP27B1, FDX1

Molecular functions related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D3 25-hydroxylase activityGO:0303438.7CYP2R1, CYP27A1
2heme bindingGO:0200378.5CYP27B1, CYP2R1, CYP27A1
3iron ion bindingGO:0055067.9FDX1, CYP27B1, CYP2R1, CYP27A1

Products for genes affiliated with Vitamin D-Dependent Rickets Type I

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  • Antibodies
  • Proteins
  • Lysates

Sources for Vitamin D-Dependent Rickets Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet