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 49 11
Pseudovitamin D Deficiency Rickets 22 67
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency 67
1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective 67
Pseudovitamin D-Deficiency Rickets Type Ia 67
Vitamin D-Dependent Rickets, Type 1 65
Vitamin D-Dependent Rickets Type I 22
1 Alpha Hydroxylase Deficiency 22
 
1-Alpha-Hydroxylase Deficiency 67
Rickets Vitamin D-Dependent 1a 67
Vitamin D Dependency Type 1 67
Pddr Ia 67
Pddr1a 67
Vddr1a 67
Vdd1 67
Pddr 67

Characteristics:

HPO:

61
vitamin d-dependent rickets, type i:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 264700
MedGen34 C0268689
MeSH36 D012279
UMLS65 C0268689

Summaries for Vitamin D-Dependent Rickets, Type I

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OMIM:49 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 hypocalcemic vitamin d-dependent rickets and rickets, vitamin d-resistant, type iia, and has symptoms including fibular bowing, abdominal wall muscle weakness and hypoplasia of dental enamel. 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:67 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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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 fibular bowing HP:0010502
2 abdominal wall muscle weakness HP:0009023
3 hypoplasia of dental enamel HP:0006297
4 flat occiput HP:0005469
5 widely patent fontanelles and sutures HP:0004492
6 difficulty standing HP:0003698
7 elevated circulating parathyroid hormone (pth) level HP:0003165
8 elevated alkaline phosphatase HP:0003155
9 subperiosteal erosions due to secondary hyperparathyroidism HP:0003106
10 enlargement of the ankles HP:0003029
11 metaphyseal irregularity HP:0003025
12 enlargement of the wrists HP:0003020
13 bulging epiphyses HP:0003013
14 tibial bowing HP:0002982
15 femoral bowing HP:0002980
16 bowing of the legs HP:0002979
17 generalized aminoaciduria HP:0002909
18 recurrent fractures HP:0002757
19 thin bony cortex HP:0002753
20 sparse bone trabeculae HP:0002752
21 rickets HP:0002748
22 delayed epiphyseal ossification HP:0002663
23 bone pain HP:0002653
24 difficulty walking HP:0002355
25 hypocalcemic seizures HP:0002199
26 hypophosphatemia HP:0002148
27 frontal bossing HP:0002007
28 protuberant abdomen HP:0001538
29 growth delay HP:0001510
30 failure to thrive HP:0001508
31 motor delay HP:0001270
32 muscular hypotonia HP:0001252
33 enlargement of the costochondral junction HP:0000920
34 bulging of the costochondral junction HP:0000893
35 deformed rib cage HP:0000886
36 secondary hyperparathyroidism HP:0000867
37 irritability HP:0000737
38 delayed eruption of teeth HP:0000684

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 I22 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:

33
Bone, Kidney, Liver, Cortex, Brain, Heart, T cells

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:

idTitleAuthorsYear
1
Novel Approaches to Targeting Visceral and Hepatic Adiposities in HIV-Associated Lipodystrophy. (26493063)
2015
2
Structural basis for the recognition of Ubc13 by the Shigella flexneri effector OspI. (23542009)
2013
3
Characterization of gene expression induced by RTN-1C in human neuroblastoma cells and in mouse brain. (20708685)
2010
4
Acute severe memory impairment as a presenting symptom of multiple sclerosis: a clinical case study with 3D double inversion recovery MR imaging. (20846999)
2010
5
Hedgehog target genes: mechanisms of carcinogenesis induced by aberrant hedgehog signaling activation. (19860666)
2009
6
CPS1, a homolog of the Streptococcus pneumoniae type 3 polysaccharide synthase gene, is important for the pathobiology of Cryptococcus neoformans. (16790766)
2006
7
Hemodynamic effects of sildenafil in patients with congestive heart failure and pulmonary hypertension: combined administration with inhaled nitric oxide. (15888841)
2005
8
Human megakaryocytes and platelets contain the estrogen receptor beta and androgen receptor (AR): testosterone regulates AR expression. (10733498)
2000
9
Novel members and germline polymorphisms in the human T-cell receptor Vb6 family. (8420835)
1993
10
Congenital coloboma of choroid. (14846880)
1951

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:

67 (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:

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

idNameGO IDScoreTop Affiliating Genes
1sterol metabolic processGO:00161259.1CYP27A1, FDX1

Sources for Vitamin D-Dependent Rickets, Type I

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet