VDDI
MCID: VTM018
MIFTS: 43

Vitamin D-Dependent Rickets Type I (VDDI) malady

Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Vitamin D-Dependent Rickets Type I

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46OMIM, 32MalaCards
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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 cholesterol biosynthesis III (via desmosterol) 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:46 264700,600081

Aliases & Classifications for Vitamin D-Dependent Rickets Type I

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
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 48
vitamin d-dependent rickets, type i 46
vitamin d dependent rickets type i 48
pseudovitamin d-deficient rickets 48
1-alpha-hydroxylase deficiency 48
vitamin d-dependency type i 48
vddr-i 48
pddri 48
vddi 48


External Ids:

SNOMED-CT via Orphanet57 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
1rickets31.0CYP2R1, CYP27A1, CYP27B1
2cerebrotendinous xanthomatosis30.5CYP27A1, FDX1
3xanthomatosis10.4

Clinical Features for Vitamin D-Dependent Rickets Type I

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46OMIM
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Clinical features from OMIM:

264700,600081

Clinical synopsis from OMIM:

264700

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type I

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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32MalaCards
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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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Genetic Variations for Vitamin D-Dependent Rickets Type I

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Vitamin D-Dependent Rickets Type I:

62 (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

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

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Sources:
1BioGPS, 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:
37NCBI BioSystems Database, 29KEGG, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with Vitamin D-Dependent Rickets Type I

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Vitamin D-Dependent Rickets Type I according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1alfacalcidol44 59 1111.4CYP27A1, CYP27B1
2eb 108944 5910.3CYP27A1, CYP27B1
3Cholecalciferol119.3CYP2R1, CYP27A1
4retinoid449.1CYP27A1, CYP27B1
5sterol449.1CYP27A1, FDX1
6calcitriol44 59 11 2412.0CYP27A1, CYP27B1
71,25 dihydroxy vitamin d3448.9FDX1, CYP27B1, CYP27A1
8Ergocalciferol11 249.8CYP27B1, CYP27A1, CYP2R1
9cholesterol44 28 11 2411.8FDX1, CYP27B1, CYP27A1
10heme28 11 2410.8CYP2R1, CYP27A1, CYP27B1
11steroid448.7CYP27A1, CYP27B1, FDX1
12vitamin d448.7CYP27B1, CYP27A1, CYP2R1
13oxygen44 249.7FDX1, CYP27B1, CYP27A1
14lipid448.3FDX1, CYP27B1, CYP27A1
1525-hydroxyvitamin d448.3CYP2R1, CYP27A1, CYP27B1, FDX1
16nadph44 249.3CYP2R1, CYP27A1, 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:0057599.1CYP27A1, FDX1

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:0068058.6CYP2R1, CYP27A1, CYP27B1
6small molecule metabolic processGO:0442818.0CYP2R1, CYP27A1, FDX1, CYP27B1

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:0200378.5CYP2R1, CYP27A1, CYP27B1
3iron ion bindingGO:0055068.0CYP2R1, CYP27A1, CYP27B1, FDX1
4electron carrier activityGO:0090557.9FDX1, CYP27B1, CYP27A1, CYP2R1

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet