MCID: VTM008
MIFTS: 36

Vitamin D-Dependent Rickets, Type I malady

Category: Genetic diseases (common)

Aliases & Classifications for Vitamin D-Dependent Rickets, Type I

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

Name: Vitamin D-Dependent Rickets, Type I 50 12
Pseudovitamin D Deficiency Rickets 23 68
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency 68
1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective 68
Pseudovitamin D-Deficiency Rickets Type Ia 68
Vitamin D-Dependent Rickets, Type 1 66
Vitamin D-Dependent Rickets Type I 23
1 Alpha Hydroxylase Deficiency 23
 
Rickets Vitamin D-Dependent 1a 68
1-Alpha-Hydroxylase Deficiency 68
Vitamin D Dependency Type 1 68
Pddr Ia 68
Pddr1a 68
Vddr1a 68
Vdd1 68
Pddr 68

Characteristics:

HPO:

62
vitamin d-dependent rickets, type i:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 264700
MedGen35 C0268689
MeSH37 D012279

Summaries for Vitamin D-Dependent Rickets, Type I

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OMIM:50 Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2... (264700) more...

MalaCards based summary: Vitamin D-Dependent Rickets, Type I, also known as pseudovitamin d deficiency rickets, is related to cerebrotendinous xanthomatosis and hypocalcemic vitamin d-dependent rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D-Dependent Rickets, Type I is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways are Vitamin D synthesis and Phase II conjugation. Affiliated tissues include bone, kidney and liver.

UniProtKB/Swiss-Prot:68 Rickets vitamin D-dependent 1A: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets.

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis28.1CYP27A1, CYP27B1, FDX1
2hypocalcemic vitamin d-dependent rickets11.6
3rickets, vitamin d-resistant, type iia11.0
4rickets10.6
5xanthomatosis10.1
6hypophosphatemic rickets, autosomal dominant9.9
7bone angioendothelial sarcoma9.4CYP27A1, CYP27B1
8stickler syndrome, type i8.8CYP27A1, CYP27B1, FDX1

Graphical network of diseases related to Vitamin D-Dependent Rickets, Type I:



Diseases related to vitamin d-dependent rickets, type i

Symptoms for Vitamin D-Dependent Rickets, Type I

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Symptoms by clinical synopsis from OMIM:

264700

Clinical features from OMIM:

264700

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

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

UMLS symptoms related to Vitamin D-Dependent Rickets, Type I:


muscle weakness, bone pain, difficulty standing

Drugs & Therapeutics for Vitamin D-Dependent Rickets, Type I

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Interventional clinical trials:

Search ClinicalTrials, 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 I23 CYP27B1

Anatomical Context for Vitamin D-Dependent Rickets, Type I

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

34
Bone, Kidney, Liver, Cortex

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:

(show all 12)
idTitleAuthorsYear
1
Fibroblast growth factor-23 and renin-angiotensin system levels in vitamin-D-dependent rickets type I. (26939683)
2016
2
Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I. (26982175)
2016
3
First Australian report of vitamin D-dependent rickets type I. (25296067)
2014
4
Vitamin D dependent rickets type I. (21503197)
2011
5
Novel vitamin D 1I+-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient. (21869486)
2011
6
Oral and dental manifestations of vitamin D-dependent rickets type I: report of a pediatric case. (12789152)
2003
7
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
8
The molecular basis of vitamin D-dependent rickets type I. (11603564)
2001
9
Genetic mutation in the human 25-hydroxyvitamin D3 1alpha-hydroxylase gene causes vitamin D-dependent rickets type I. (10612418)
1999
10
Vitamin D-dependent rickets type I and type II. (9316302)
1997
11
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
12
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:

68 (show all 18)
id Symbol AA change Variation ID SNP ID
1CYP27B1p.Arg107HisVAR_016952rs28934604
2CYP27B1p.Gly125GluVAR_016953rs28934605
3CYP27B1p.Glu189GlyVAR_016954rs118204012
4CYP27B1p.Thr321ArgVAR_016955rs118204007
5CYP27B1p.Arg335ProVAR_016956rs28934606
6CYP27B1p.Leu343PheVAR_016957rs118204011
7CYP27B1p.Pro382SerVAR_016958rs28934607
8CYP27B1p.Arg389HisVAR_016959rs118204009
9CYP27B1p.Arg389GlyVAR_016960rs118204010
10CYP27B1p.Thr409IleVAR_016961rs118204008
11CYP27B1p.Glu189LysVAR_016967
12CYP27B1p.Arg389CysVAR_016968rs118204010
13CYP27B1p.Gln65HisVAR_016969
14CYP27B1p.Ser323TyrVAR_016970
15CYP27B1p.Arg429ProVAR_016971
16CYP27B1p.Arg453CysVAR_016972rs767480544
17CYP27B1p.Val478GlyVAR_016973
18CYP27B1p.Pro497ArgVAR_016974

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

5 (show all 17)
id Gene Variation 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
10CYP27B1NM_000785.3(CYP27B1): c.589+1G> Asingle nucleotide variantPathogenicrs761780097GRCh37Chr 12, 58159079: 58159079
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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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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.4CYP27A1, FDX1
2mitochondrionGO:00057398.5CYP27A1, CYP27B1, FDX1

Biological processes related to Vitamin D-Dependent Rickets, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sterol metabolic processGO:00161259.4CYP27A1, FDX1
2oxidation-reduction processGO:00551148.5CYP27A1, CYP27B1, FDX1

Molecular functions related to Vitamin D-Dependent Rickets, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200378.7CYP27A1, CYP27B1
2iron ion bindingGO:00055068.5CYP27A1, CYP27B1, FDX1

Sources for Vitamin D-Dependent Rickets, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet