VDDR3
MCID: VTM035
MIFTS: 17

Vitamin D-Dependent Rickets, Type 3 (VDDR3)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Vitamin D-Dependent Rickets, Type 3

MalaCards integrated aliases for Vitamin D-Dependent Rickets, Type 3:

Name: Vitamin D-Dependent Rickets, Type 3 57 6
Vddr3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
based on report of 2 unrelated girls (last curated october 2020)


HPO:

31
vitamin d-dependent rickets, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



Summaries for Vitamin D-Dependent Rickets, Type 3

OMIM® : 57 Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D (Roizen et al., 2018). For discussion of genetic heterogeneity of vitamin D-dependent rickets, see 264700. (619073) (Updated 05-Apr-2021)

MalaCards based summary : Vitamin D-Dependent Rickets, Type 3, also known as vddr3, is related to vitamin d-dependent rickets and rickets. An important gene associated with Vitamin D-Dependent Rickets, Type 3 is CYP3A4 (Cytochrome P450 Family 3 Subfamily A Member 4). Related phenotypes are flared metaphysis and metaphyseal cupping

Related Diseases for Vitamin D-Dependent Rickets, Type 3

Diseases in the Vitamin D-Dependent Rickets family:

Vitamin D-Dependent Rickets, Type 2a Vitamin D-Dependent Rickets, Type 3
Vitamin D-Dependent Rickets Type 2b

Diseases related to Vitamin D-Dependent Rickets, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets 10.2
2 rickets 10.2

Symptoms & Phenotypes for Vitamin D-Dependent Rickets, Type 3

Human phenotypes related to Vitamin D-Dependent Rickets, Type 3:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 flared metaphysis 31 very rare (1%) HP:0003015
2 metaphyseal cupping 31 very rare (1%) HP:0003021
3 low serum calcitriol 31 very rare (1%) HP:0012052
4 delayed ability to walk 31 very rare (1%) HP:0031936
5 low serum calcifediol 31 very rare (1%) HP:0012053
6 osteopenia 31 HP:0000938
7 hypophosphatemia 31 HP:0002148
8 growth delay 31 HP:0001510
9 hypocalcemia 31 HP:0002901
10 genu varum 31 HP:0002970
11 elevated alkaline phosphatase 31 HP:0003155
12 elevated circulating parathyroid hormone level 31 HP:0003165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Limbs:
genu varum
bowing of radius and ulna (in early childhood)
metaphyseal splaying (in early childhood)
metaphyseal cupping (in early childhood)
metaphyseal lucency (in second decade of life)
more
Growth:
poor growth

Laboratory Abnormalities:
elevated alkaline phosphatase
elevated parathyroid hormone
low total calcium
low phosphorus

Clinical features from OMIM®:

619073 (Updated 05-Apr-2021)

Drugs & Therapeutics for Vitamin D-Dependent Rickets, Type 3

Search Clinical Trials , NIH Clinical Center for Vitamin D-Dependent Rickets, Type 3

Genetic Tests for Vitamin D-Dependent Rickets, Type 3

Anatomical Context for Vitamin D-Dependent Rickets, Type 3

Publications for Vitamin D-Dependent Rickets, Type 3

Articles related to Vitamin D-Dependent Rickets, Type 3:

(showing 1, show less)
# Title Authors PMID Year
1
CYP3A4 mutation causes vitamin D-dependent rickets type 3. 61 6 57
29461981 2018

Variations for Vitamin D-Dependent Rickets, Type 3

ClinVar genetic disease variations for Vitamin D-Dependent Rickets, Type 3:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP3A4 NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr) SNV Pathogenic 982369 GRCh37: 7:99361602-99361602
GRCh38: 7:99763979-99763979

Expression for Vitamin D-Dependent Rickets, Type 3

Search GEO for disease gene expression data for Vitamin D-Dependent Rickets, Type 3.

Pathways for Vitamin D-Dependent Rickets, Type 3

GO Terms for Vitamin D-Dependent Rickets, Type 3

Sources for Vitamin D-Dependent Rickets, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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