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 51 12
Pseudovitamin D Deficiency Rickets 24 69
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency 69
1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective 69
Pseudovitamin D-Deficiency Rickets Type Ia 69
Vitamin D-Dependent Rickets, Type 1 67
Vitamin D-Dependent Rickets Type I 24
1 Alpha Hydroxylase Deficiency 24
 
1-Alpha-Hydroxylase Deficiency 69
Rickets Vitamin D-Dependent 1a 69
Vitamin D Dependency Type 1 69
Pddr Ia 69
Pddr1a 69
Vddr1a 69
Vdd1 69
Pddr 69

Characteristics:

HPO:

63
vitamin d-dependent rickets, type i:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 264700
MedGen36 C0268689
MeSH38 D012279

Summaries for Vitamin D-Dependent Rickets, Type I

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OMIM:51 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 delayed eruption of teeth, irritability and secondary hyperparathyroidism. 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 is Vitamin D synthesis. Affiliated tissues include bone, kidney and liver.

UniProtKB/Swiss-Prot:69 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 rickets11.5
3rickets, vitamin d-resistant, type iia10.8
4hypophosphatemic rickets, autosomal dominant10.8
5rickets10.5
6xanthomatosis10.0
7bone angioendothelial sarcoma9.5CYP27A1, CYP27B1
8stickler syndrome, type i8.9CYP27A1, 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

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

 63 (show all 38)
id Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth63 HP:0000684
2 irritability63 HP:0000737
3 secondary hyperparathyroidism63 HP:0000867
4 deformed rib cage63 HP:0000886
5 bulging of the costochondral junction63 HP:0000893
6 enlargement of the costochondral junction63 HP:0000920
7 muscular hypotonia63 HP:0001252
8 motor delay63 HP:0001270
9 failure to thrive63 HP:0001508
10 growth delay63 HP:0001510
11 protuberant abdomen63 HP:0001538
12 frontal bossing63 HP:0002007
13 hypophosphatemia63 HP:0002148
14 hypocalcemic seizures63 HP:0002199
15 difficulty walking63 HP:0002355
16 bone pain63 HP:0002653
17 delayed epiphyseal ossification63 HP:0002663
18 rickets63 HP:0002748
19 sparse bone trabeculae63 HP:0002752
20 thin bony cortex63 HP:0002753
21 recurrent fractures63 HP:0002757
22 generalized aminoaciduria63 HP:0002909
23 bowing of the legs63 HP:0002979
24 femoral bowing63 HP:0002980
25 tibial bowing63 HP:0002982
26 bulging epiphyses63 HP:0003013
27 enlargement of the wrists63 HP:0003020
28 metaphyseal irregularity63 HP:0003025
29 enlargement of the ankles63 HP:0003029
30 subperiosteal erosions due to secondary hyperparathyroidism63 HP:0003106
31 elevated alkaline phosphatase63 HP:0003155
32 elevated circulating parathyroid hormone level63 HP:0003165
33 difficulty standing63 HP:0003698
34 widely patent fontanelles and sutures63 HP:0004492
35 flat occiput63 HP:0005469
36 hypoplasia of dental enamel63 HP:0006297
37 abdominal wall muscle weakness63 HP:0009023
38 fibular bowing63 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 I24 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:

35
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:

69 (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_016969rs868704228
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 18)
id Gene Variation Type Significance SNP ID Assembly Location
1CYP27B1NM_000785.3(CYP27B1): c.320G> A (p.Arg107His)SNVLikely pathogenic, Pathogenicrs28934604GRCh37Chr 12, 58159856: 58159856
2CYP27B1NM_000785.3(CYP27B1): c.374G> A (p.Gly125Glu)SNVPathogenicrs28934605GRCh37Chr 12, 58159802: 58159802
3CYP27B1NM_000785.3(CYP27B1): c.1004G> C (p.Arg335Pro)SNVPathogenicrs28934606GRCh37Chr 12, 58158293: 58158293
4CYP27B1NM_000785.3(CYP27B1): c.1144C> T (p.Pro382Ser)SNVPathogenicrs28934607GRCh37Chr 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 DUPduplicationPathogenicChr na, -1: -1
9CYP27B1NM_000785.3(CYP27B1): c.962C> G (p.Thr321Arg)SNVPathogenicrs118204007GRCh37Chr 12, 58158538: 58158538
10CYP27B1NM_000785.3(CYP27B1): c.589+1G> ASNVPathogenicrs761780097GRCh37Chr 12, 58159079: 58159079
11CYP27B1NM_000785.3(CYP27B1): c.1226C> T (p.Thr409Ile)SNVPathogenicrs118204008GRCh37Chr 12, 58157581: 58157581
12CYP27B1NM_000785.3(CYP27B1): c.1166G> A (p.Arg389His)SNVLikely pathogenic, Pathogenicrs118204009GRCh37Chr 12, 58157930: 58157930
13CYP27B1CYP27B1, 5-BP DEL/6-BP INSindelPathogenicChr na, -1: -1
14CYP27B1CYP27B1, IVS2, G-A, +1SNVPathogenicChr na, -1: -1
15CYP27B1NM_000785.3(CYP27B1): c.1165C> G (p.Arg389Gly)SNVPathogenicrs118204010GRCh37Chr 12, 58157931: 58157931
16CYP27B1NM_000785.3(CYP27B1): c.1027C> T (p.Leu343Phe)SNVPathogenicrs118204011GRCh37Chr 12, 58158270: 58158270
17CYP27B1NM_000785.3(CYP27B1): c.566A> G (p.Glu189Gly)SNVPathogenicrs118204012GRCh37Chr 12, 58159103: 58159103
18CYP27B1NM_000785.3(CYP27B1): c.1319_1325dupCCCACCC (p.Phe443Profs)duplicationPathogenicrs780950819GRCh37Chr 12, 58157482: 58157482

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

idSuper pathwaysScoreTop Affiliating Genes
19.0CYP27A1, CYP27B1

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:00057599.3CYP27A1, 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:00161259.5CYP27A1, 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:00200379.0CYP27A1, CYP27B1
2iron ion bindingGO:00055068.2CYP27A1, CYP27B1, FDX1

Sources for Vitamin D-Dependent Rickets, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet