VDDI
MCID: VTM018
MIFTS: 44

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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47OMIM, 33MalaCards
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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:47 264700,600081

Aliases & Classifications for Vitamin D-Dependent Rickets Type I

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 20 22
hypocalcemic vitamin d-dependent rickets 49
vitamin d-dependent rickets, type i 47
vitamin d dependent rickets type i 49
pseudovitamin d-deficient rickets 49
1-alpha-hydroxylase deficiency 49
vitamin d-dependency type i 49
vddr-i 49
pddri 49
vddi 49


External Ids:

SNOMED-CT via Orphanet59 67049004
ICD10 via Orphanet26 E55.0

Related Diseases for Vitamin D-Dependent Rickets Type I

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Vitamin D-Dependent Rickets Type I:

33
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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52PubMed
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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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB, 60Thomson 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 biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
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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45Novoseek, 61Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1alfacalcidol45 61 1111.4CYP27B1, CYP27A1
2eb 108945 6110.3CYP27B1, CYP27A1
3sterol459.1FDX1, CYP27A1
4retinoid459.1CYP27B1, CYP27A1
51,25 dihydroxy vitamin d3458.9FDX1, CYP27B1, CYP27A1
6calcitriol45 61 24 1111.8CYP27B1, CYP27A1
7Ergocalciferol24 119.8CYP27A1, CYP2R1, CYP27B1
8Vitamin D3248.8CYP27B1, CYP2R1, CYP27A1
9NADP248.8CYP27A1, CYP2R1, CYP27B1
10cholesterol45 29 24 1111.8CYP27A1, CYP27B1, FDX1
11heme29 24 1110.7CYP27A1, CYP2R1, CYP27B1
12steroid458.7FDX1, CYP27B1, CYP27A1
13vitamin d458.7CYP27B1, CYP2R1, CYP27A1
14oxygen45 249.7CYP27A1, CYP27B1, FDX1
15lipid458.5CYP27A1, CYP27B1, FDX1
1625-hydroxyvitamin d458.3FDX1, CYP27B1, CYP2R1, CYP27A1
17nadph45 249.3CYP27A1, CYP2R1, CYP27B1, FDX1

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

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet