VDDI
MCID: HYP636
MIFTS: 26

Hypocalcemic Vitamin D-Dependent Rickets (VDDI) malady

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

Aliases & Classifications for Hypocalcemic Vitamin D-Dependent Rickets

Aliases & Descriptions for Hypocalcemic Vitamin D-Dependent Rickets:

Name: Hypocalcemic Vitamin D-Dependent Rickets 56
Vitamin D Dependent Rickets Type I 56 29
Vitamin D-Dependent Rickets, Type 1 69
Pseudovitamin D-Deficient Rickets 56
1-Alpha-Hydroxylase Deficiency 56
Vitamin D-Dependency Type I 56
Vddr-I 56
Pddri 56
Vddi 56

Characteristics:

Orphanet epidemiological data:

56
hypocalcemic vitamin d-dependent rickets
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA289157
ICD10 via Orphanet 34 E55.0

Summaries for Hypocalcemic Vitamin D-Dependent Rickets

MalaCards based summary : Hypocalcemic Vitamin D-Dependent Rickets, also known as vitamin d dependent rickets type i, is related to rickets and vitamin d-dependent rickets, type i, and has symptoms including muscle weakness, bone pain and difficulty standing. 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. 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:

id Related Disease Score Top Affiliating Genes
1 rickets 11.7
2 vitamin d-dependent rickets, type i 11.2
3 cerebrotendinous xanthomatosis 9.9
4 allergic urticaria 9.8 CYP27B1 CYP2R1
5 severe intellectual disability and progressive spastic paraplegia 9.7 CYP27B1 CYP2R1

Graphical network of the top 20 diseases related to Hypocalcemic Vitamin D-Dependent Rickets:



Diseases related to Hypocalcemic Vitamin D-Dependent Rickets

Symptoms & Phenotypes for Hypocalcemic Vitamin D-Dependent Rickets

UMLS symptoms related to Hypocalcemic Vitamin D-Dependent Rickets:


muscle weakness, bone pain, difficulty standing

Drugs & Therapeutics for Hypocalcemic Vitamin D-Dependent Rickets

Search Clinical Trials , 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:

id Genetic test Affiliating Genes
1 Vitamin D-Dependent Rickets, Type 1 29

Anatomical Context for Hypocalcemic Vitamin D-Dependent Rickets

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

39
Bone

Publications for Hypocalcemic Vitamin D-Dependent Rickets

Variations for Hypocalcemic Vitamin D-Dependent Rickets

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

6 (show all 17)
id 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

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:

id 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
10.84 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....