VDDI
MCID: VTM018
MIFTS: 36

Vitamin D-Dependent Rickets Type I (VDDI) malady

Bone, Endocrine, Fetal categories

Summaries for Vitamin D-Dependent Rickets Type I

Sources:
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 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 kidney, liver and skin.

Description from OMIM:47 264700,600081

Aliases & Classifications for Vitamin D-Dependent Rickets Type I

Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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:

ICD10 via Orphanet26 E55.0

Related Diseases for Vitamin D-Dependent Rickets Type I

Sources:
17GeneCards, 18GeneDecks
See all sources

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

264700,600081

Clinical synopsis from OMIM:

264700

Drugs & Therapeutics for Vitamin D-Dependent Rickets Type I

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Vitamin D-Dependent Rickets Type I:

33
Kidney, Liver, Skin

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

Sources:
28inGenious Targeting Laboratory
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Publications for Vitamin D-Dependent Rickets Type I

Sources:
51PubMed
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Articles related to Vitamin D-Dependent Rickets Type I:

idTitleAuthorsYear
1
Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy. (21700898)
2011
2
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II. (19921089)
2010
3
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study. (15781675)
2005
4
Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. (15972816)
2005
5
The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). (8396512)
1993
6
Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction. (1655462)
1991
7
25-Hydroxyvitamin D-24-hydroxylase in phytohemagglutinin-stimulated lymphocytes: intermediate bioresponse to 1,25-dihydroxyvitamin D3 of cells from parents of patients with vitamin D-dependent rickets type II. (2156884)
1990
8
Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts. (3872316)
1985
9
Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3. (6313754)
1983
10
Interaction of 1,25-dihydroxyvitamin-D3 with keratinocytes and fibroblasts from skin of normal subjects and a subject with vitamin-D-dependent rickets, type II: a model for study of the mode of action of 1,25-dihydroxyvitamin D3. (6300167)
1983

Genetic Variations for Vitamin D-Dependent Rickets Type I

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Vitamin D-Dependent Rickets Type I:

63 (show all 18)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 12EMD Millipore
See all sources

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

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1alfacalcidol45 60 1111.4CYP27A1, CYP27B1
2eb 108945 6010.3CYP27A1, CYP27B1
3Cholecalciferol119.3CYP2R1, CYP27A1
4retinoid459.1CYP27A1, CYP27B1
5sterol459.1CYP27A1, FDX1
6calcitriol45 60 11 2412.0CYP27A1, CYP27B1
71,25 dihydroxy vitamin d3458.9FDX1, CYP27B1, CYP27A1
8Ergocalciferol11 249.8CYP27B1, CYP27A1, CYP2R1
9cholesterol45 29 11 2411.8FDX1, CYP27B1, CYP27A1
10heme29 11 2410.8CYP2R1, CYP27A1, CYP27B1
11steroid458.7CYP27A1, CYP27B1, FDX1
12vitamin d458.7CYP27B1, CYP27A1, CYP2R1
13oxygen45 249.7FDX1, CYP27B1, CYP27A1
14lipid458.3FDX1, CYP27B1, CYP27A1
1525-hydroxyvitamin d458.3CYP2R1, CYP27A1, CYP27B1, FDX1
16nadph45 249.3CYP2R1, CYP27A1, CYP27B1, FDX1

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

Sources:
16Gene Ontology
See all sources

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vitamin D-Dependent Rickets Type I

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet