VDDI
MCID: VTM018
MIFTS: 44

Vitamin D-Dependent Rickets Type I (VDDI) malady

Genetic diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Vitamin D-Dependent Rickets Type I

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48OMIM, 34MalaCards
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MalaCards: Vitamin D-Dependent Rickets Type I, also known as hypocalcemic vitamin d-dependent rickets, is related to rickets and cerebrotendinous xanthomatosis. 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.

Description from OMIM:48 264700,600081

Aliases & Classifications for Vitamin D-Dependent Rickets Type I

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hypocalcemic vitamin d-dependent rickets:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

vitamin d-dependent rickets type i 21 23
hypocalcemic vitamin d-dependent rickets 50
vitamin d-dependent rickets, type i 48
vitamin d dependent rickets type i 50
pseudovitamin d-deficient rickets 50
1-alpha-hydroxylase deficiency 50
vitamin d-dependency type i 50
vddr-i 50
pddri 50
vddi 50


External Ids:

SNOMED-CT via Orphanet60 67049004
ICD10 via Orphanet27 E55.0

Related Diseases for Vitamin D-Dependent Rickets Type I

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18GeneCards, 19GeneDecks
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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
1rickets30.9CYP27B1, CYP2R1, CYP27A1
2cerebrotendinous xanthomatosis30.6FDX1, CYP27A1
3xanthomatosis10.4

Symptoms for Vitamin D-Dependent Rickets Type I

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48OMIM
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Symptoms by clinical synopsis from OMIM:

264700

Clinical features from OMIM:

264700,600081

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type I

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Vitamin D-Dependent Rickets Type I

Drug clinical trials:

Search ClinicalTrials for Vitamin D-Dependent Rickets Type I

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

Search CenterWatch for Vitamin D-Dependent Rickets Type I

Genetic Tests for Vitamin D-Dependent Rickets Type I

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21GeneTests, 23GTR
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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 I21 CYP27B1
2 Vitamin D-Dependent Rickets, Type 123

Anatomical Context for Vitamin D-Dependent Rickets Type I

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34MalaCards
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MalaCards organs/tissues related to Vitamin D-Dependent Rickets Type I:

34
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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53PubMed
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Articles related to Vitamin D-Dependent Rickets Type I:

idTitleAuthorsYear
1
Novel vitamin D 1I+-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient. (21869486)
2011
2
Vitamin D dependent rickets type I. (21503197)
2011
3
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
4
Vitamin D-dependent rickets type I and type II. (9316302)
1997

Variations for Vitamin D-Dependent Rickets Type I

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Vitamin D-Dependent Rickets Type I:

65 (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:

1 (show all 17)
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

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson Reuters
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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 biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.3CYP27B1, CYP2R1
2
Show member pathways
9.3CYP27B1, CYP2R1
3
Show member pathways
8.5CYP27A1, CYP2R1, CYP27B1
48.5CYP27B1, CYP2R1, CYP27A1
5
Show member pathways
8.5CYP27B1, CYP2R1, CYP27A1
6
Show member pathways
8.0FDX1, CYP27B1, CYP2R1, CYP27A1

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

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46Novoseek, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1alfacalcidol46 62 1211.4CYP27B1, CYP27A1
2eb 108946 6210.3CYP27B1, CYP27A1
3sterol469.1FDX1, CYP27A1
4retinoid469.1CYP27B1, CYP27A1
51,25 dihydroxy vitamin d3468.9FDX1, CYP27B1, CYP27A1
6calcitriol46 62 25 1211.8CYP27B1, CYP27A1
7Ergocalciferol25 129.8CYP27A1, CYP2R1, CYP27B1
8Vitamin D3258.8CYP27B1, CYP2R1, CYP27A1
9NADP258.8CYP27A1, CYP2R1, CYP27B1
10cholesterol46 30 25 1211.8CYP27A1, CYP27B1, FDX1
11heme30 25 1210.7CYP27A1, CYP2R1, CYP27B1
12steroid468.7FDX1, CYP27B1, CYP27A1
13vitamin d468.7CYP27B1, CYP2R1, CYP27A1
14oxygen46 259.7CYP27A1, CYP27B1, FDX1
15lipid468.5CYP27A1, CYP27B1, FDX1
1625-hydroxyvitamin d468.3FDX1, CYP27B1, CYP2R1, CYP27A1
17nadph46 259.3CYP27A1, CYP2R1, CYP27B1, FDX1

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

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17Gene Ontology
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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
  • Antibodies

Sources for Vitamin D-Dependent Rickets Type I

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet