MCID: HYP636
MIFTS: 27

Hypocalcemic Vitamin D-Dependent Rickets

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypocalcemic Vitamin D-Dependent Rickets

MalaCards integrated aliases for Hypocalcemic Vitamin D-Dependent Rickets:

Name: Hypocalcemic Vitamin D-Dependent Rickets 55
Vitamin D-Dependent Rickets, Type 1 28 69
Vitamin D Dependent Rickets Type I 55
Pseudovitamin D-Deficient Rickets 55
1-Alpha-Hydroxylase Deficiency 55
Vitamin D-Dependency Type I 55
Vddr-I 55
Pddri 55
Vddi 55

Characteristics:

Orphanet epidemiological data:

55
hypocalcemic vitamin d-dependent rickets
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA289157
UMLS via Orphanet 70 C0268689
ICD10 via Orphanet 33 E55.0
UMLS 69 C0268689

Summaries for Hypocalcemic Vitamin D-Dependent Rickets

MalaCards based summary : Hypocalcemic Vitamin D-Dependent Rickets, also known as vitamin d-dependent rickets, type 1, is related to rickets and vitamin d hydroxylation-deficient rickets, type 1a, and has symptoms including difficulty standing, bone pain and muscle weakness. An important gene associated with Hypocalcemic Vitamin D-Dependent Rickets is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Metabolism of water-soluble vitamins and cofactors. The drugs Teriparatide and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone.

Related Diseases for Hypocalcemic Vitamin D-Dependent Rickets

Diseases related to Hypocalcemic Vitamin D-Dependent Rickets via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rickets 29.0 CYP27B1 CYP2R1
2 vitamin d hydroxylation-deficient rickets, type 1a 11.4
3 xanthomatosis 10.0
4 cerebrotendinous xanthomatosis 10.0

Symptoms & Phenotypes for Hypocalcemic Vitamin D-Dependent Rickets

UMLS symptoms related to Hypocalcemic Vitamin D-Dependent Rickets:


difficulty standing, bone pain, muscle weakness

Drugs & Therapeutics for Hypocalcemic Vitamin D-Dependent Rickets

Drugs for Hypocalcemic Vitamin D-Dependent Rickets (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Not Applicable 52232-67-4 16133850
2
Vitamin D Approved, Nutraceutical, Vet_approved Not Applicable 1406-16-2
3
Ergocalciferol Approved, Nutraceutical Not Applicable 50-14-6 5280793
4 Calcifediol Not Applicable 19356-17-3
5 Micronutrients Not Applicable
6 Trace Elements Not Applicable
7 Vitamins Not Applicable
8 Hydroxycholecalciferols Not Applicable
9 Ergocalciferols Not Applicable
10 Bone Density Conservation Agents Not Applicable
11 Vitamin D2 Nutraceutical Not Applicable
12 Calciferol Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Suspected Deficient Activation of Vitamin D in Patients With Secondary Hyperparathyroidism Completed NCT00754442 Not Applicable Teriparatide

Search NIH Clinical Center for Hypocalcemic Vitamin D-Dependent Rickets

Genetic Tests for Hypocalcemic Vitamin D-Dependent Rickets

Genetic tests related to Hypocalcemic Vitamin D-Dependent Rickets:

# Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets, Type 1 28 CYP27B1

Anatomical Context for Hypocalcemic Vitamin D-Dependent Rickets

MalaCards organs/tissues related to Hypocalcemic Vitamin D-Dependent Rickets:

38
Bone

Publications for Hypocalcemic Vitamin D-Dependent Rickets

Articles related to Hypocalcemic Vitamin D-Dependent Rickets:

# Title Authors Year
1
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. ( 27399352 )
2016
2
Seizure as a presenting manifestation of vitamin D dependent rickets type 1. ( 25593852 )
2015
3
A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report. ( 25371233 )
2014
4
Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy. ( 21700898 )
2011
5
A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. ( 20534770 )
2010
6
Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria. ( 18394115 )
2008
7
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
8
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. ( 9415400 )
1997

Variations for Hypocalcemic Vitamin D-Dependent Rickets

ClinVar genetic disease variations for Hypocalcemic Vitamin D-Dependent Rickets:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27B1 NM_000785.3(CYP27B1): c.320G> A (p.Arg107His) single nucleotide variant Pathogenic/Likely pathogenic rs28934604 GRCh37 Chromosome 12, 58159856: 58159856
2 CYP27B1 NM_000785.3(CYP27B1): c.374G> A (p.Gly125Glu) single nucleotide variant Pathogenic rs28934605 GRCh37 Chromosome 12, 58159802: 58159802
3 CYP27B1 NM_000785.3(CYP27B1): c.1004G> C (p.Arg335Pro) single nucleotide variant Pathogenic rs28934606 GRCh37 Chromosome 12, 58158293: 58158293
4 CYP27B1 NM_000785.3(CYP27B1): c.1144C> T (p.Pro382Ser) single nucleotide variant Pathogenic rs28934607 GRCh37 Chromosome 12, 58157952: 58157952
5 CYP27B1 NM_000785.3(CYP27B1): c.630delG (p.Glu211Argfs) deletion Pathogenic rs387906258 GRCh37 Chromosome 12, 58158954: 58158954
6 CYP27B1 NM_000785.3(CYP27B1): c.692delC (p.Thr232Argfs) deletion Pathogenic rs387906259 GRCh37 Chromosome 12, 58158892: 58158892
7 CYP27B1 NM_000785.3(CYP27B1): c.262delG (p.Val88Trpfs) deletion Pathogenic rs387906260 GRCh37 Chromosome 12, 58159914: 58159914
8 CYP27B1 CYP27B1, 7-BP DUP duplication Pathogenic
9 CYP27B1 NM_000785.3(CYP27B1): c.962C> G (p.Thr321Arg) single nucleotide variant Pathogenic rs118204007 GRCh37 Chromosome 12, 58158538: 58158538
10 CYP27B1 NM_000785.3(CYP27B1): c.589+1G> A single nucleotide variant Pathogenic rs761780097 GRCh37 Chromosome 12, 58159079: 58159079
11 CYP27B1 NM_000785.3(CYP27B1): c.1226C> T (p.Thr409Ile) single nucleotide variant Pathogenic rs118204008 GRCh37 Chromosome 12, 58157581: 58157581
12 CYP27B1 NM_000785.3(CYP27B1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic/Likely pathogenic rs118204009 GRCh37 Chromosome 12, 58157930: 58157930
13 CYP27B1 CYP27B1, 5-BP DEL/6-BP INS indel Pathogenic
14 CYP27B1 CYP27B1, IVS2, G-A, +1 single nucleotide variant Pathogenic
15 CYP27B1 NM_000785.3(CYP27B1): c.1165C> G (p.Arg389Gly) single nucleotide variant Pathogenic rs118204010 GRCh37 Chromosome 12, 58157931: 58157931
16 CYP27B1 NM_000785.3(CYP27B1): c.1027C> T (p.Leu343Phe) single nucleotide variant Pathogenic rs118204011 GRCh37 Chromosome 12, 58158270: 58158270
17 CYP27B1 NM_000785.3(CYP27B1): c.566A> G (p.Glu189Gly) single nucleotide variant Pathogenic rs118204012 GRCh37 Chromosome 12, 58159103: 58159103
18 CYP27B1 NM_000785.3(CYP27B1): c.1319_1325dupCCCACCC (p.Phe443Profs) duplication Pathogenic rs780950819 GRCh37 Chromosome 12, 58157482: 58157482

Expression for Hypocalcemic Vitamin D-Dependent Rickets

Search GEO for disease gene expression data for Hypocalcemic Vitamin D-Dependent Rickets.

Pathways for Hypocalcemic Vitamin D-Dependent Rickets

Pathways related to Hypocalcemic Vitamin D-Dependent Rickets according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 CYP27B1 CYP2R1
2
Show member pathways
11.87 CYP27B1 CYP2R1
3
Show member pathways
11.49 CYP27B1 CYP2R1
4
Show member pathways
10.83 CYP27B1 CYP2R1
5 9.62 CYP27B1 CYP2R1

GO Terms for Hypocalcemic Vitamin D-Dependent Rickets

Biological processes related to Hypocalcemic Vitamin D-Dependent Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.26 CYP27B1 CYP2R1
2 vitamin D metabolic process GO:0042359 9.16 CYP27B1 CYP2R1
3 vitamin metabolic process GO:0006766 8.96 CYP27B1 CYP2R1
4 calcitriol biosynthetic process from calciol GO:0036378 8.62 CYP27B1 CYP2R1

Molecular functions related to Hypocalcemic Vitamin D-Dependent Rickets according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 CYP27B1 CYP2R1
2 iron ion binding GO:0005506 9.16 CYP27B1 CYP2R1
3 heme binding GO:0020037 8.96 CYP27B1 CYP2R1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.62 CYP27B1 CYP2R1

Sources for Hypocalcemic Vitamin D-Dependent Rickets

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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