MCID: RCK006
MIFTS: 25

Rickets Due to Defect in Vitamin D 25-Hydroxylation

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Bone diseases

Aliases & Classifications for Rickets Due to Defect in Vitamin D 25-Hydroxylation

MalaCards integrated aliases for Rickets Due to Defect in Vitamin D 25-Hydroxylation:

Name: Rickets Due to Defect in Vitamin D 25-Hydroxylation 54 13
Vitamin D Hydroxylation-Deficient Rickets, Type 1b 24 29 69
Vddr1b 24 71
Pseudovitamin D(3) Deficiency Rickets Due to 25-Hydroxylase Deficiency 71
Pseudovitamin D3 Deficiency Rickets Due to 25-Hydroxylase Deficiency 24
Selective 25-Hydroxyvitamin D(3) Deficiency 71
25-Hydroxyvitamin D3 Deficiency, Selective 24
25-Hydroxyvitamimn D3 Deficiency Selective 71
Vitamin D-Dependent Rickets, Type 1b 24
Vitamin D-Dependent Rickets Type Ib 24
25-Hydroxyvitamin D(3) Deficiency 71
Rickets Vitamin D-Dependent 1b 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
good response to vitamin d treatment


HPO:

32
rickets due to defect in vitamin d 25-hydroxylation:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Rickets Due to Defect in Vitamin D 25-Hydroxylation

UniProtKB/Swiss-Prot : 71 Rickets vitamin D-dependent 1B: 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. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25- hydroxyvitamin D.

MalaCards based summary : Rickets Due to Defect in Vitamin D 25-Hydroxylation, also known as vitamin d hydroxylation-deficient rickets, type 1b, is related to vitamin d-dependent rickets, type i and rickets, and has symptoms including failure to thrive, femoral bowing and tibial bowing. An important gene associated with Rickets Due to Defect in Vitamin D 25-Hydroxylation is CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1). Affiliated tissues include bone and cortex.

Description from OMIM: 600081

Related Diseases for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Diseases in the Rickets family:

Rickets Due to Defect in Vitamin D 25-Hydroxylation

Diseases related to Rickets Due to Defect in Vitamin D 25-Hydroxylation via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 vitamin d-dependent rickets, type i 11.3
2 rickets 10.0

Symptoms & Phenotypes for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
growth retardation
poor growth

Head And Neck- Head:
frontal bossing

Laboratory- Abnormalities:
increased alkaline phosphatase
hypophosphatemia
low-to-normal serum calcium
normal serum 1,25-dihydroxyvitamin d3
decreased serum 25-hydroxyvitamin d

Skeletal- Skull:
widened cranial sutures
posterior flattening of the skull

Muscle Soft Tissue:
hypotonia
muscle weakness
difficulty in walking
difficulty in standing

Skeletal:
bone pain
rickets
increased fractures
sparse bone trabeculae
thin bony cortex

Chest- Ribs Sternum Clavicles And Scapulae:
deformed rib cage
enlargement and bulging of the costochondral junction

Skeletal- Limbs:
delayed opacification of the epiphyses
widened, distorted epiphyses
'bulging' epiphyses
frayed, irregular metaphyses
lower limb deformities
more

Clinical features from OMIM:

600081

Human phenotypes related to Rickets Due to Defect in Vitamin D 25-Hydroxylation:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 femoral bowing 32 HP:0002980
3 tibial bowing 32 HP:0002982
4 frontal bossing 32 HP:0002007
5 muscle weakness 32 HP:0001324
6 recurrent fractures 32 HP:0002757
7 bone pain 32 HP:0002653
8 muscular hypotonia 32 HP:0001252
9 difficulty walking 32 HP:0002355
10 hypophosphatemia 32 HP:0002148
11 rickets 32 HP:0002748
12 flat occiput 32 HP:0005469
13 elevated alkaline phosphatase 32 HP:0003155
14 enlargement of the costochondral junction 32 HP:0000920
15 deformed rib cage 32 HP:0000886
16 sparse bone trabeculae 32 HP:0002752
17 thin bony cortex 32 HP:0002753
18 bowing of the legs 32 HP:0002979
19 enlargement of the wrists 32 HP:0003020
20 enlargement of the ankles 32 HP:0003029
21 difficulty standing 32 HP:0003698
22 growth delay 32 HP:0001510
23 metaphyseal irregularity 32 HP:0003025
24 delayed epiphyseal ossification 32 HP:0002663
25 widely patent fontanelles and sutures 32 HP:0004492
26 fibular bowing 32 HP:0010502
27 bulging epiphyses 32 HP:0003013
28 bulging of the costochondral junction 32 HP:0000893

UMLS symptoms related to Rickets Due to Defect in Vitamin D 25-Hydroxylation:


muscle weakness, bone pain, difficulty standing

Drugs & Therapeutics for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Search Clinical Trials , NIH Clinical Center for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Genetic Tests for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Genetic tests related to Rickets Due to Defect in Vitamin D 25-Hydroxylation:

id Genetic test Affiliating Genes
1 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 29
2 Vitamin D-Dependent Rickets Type Ib 24 CYP2R1

Anatomical Context for Rickets Due to Defect in Vitamin D 25-Hydroxylation

MalaCards organs/tissues related to Rickets Due to Defect in Vitamin D 25-Hydroxylation:

39
Bone, Cortex

Publications for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Variations for Rickets Due to Defect in Vitamin D 25-Hydroxylation

UniProtKB/Swiss-Prot genetic disease variations for Rickets Due to Defect in Vitamin D 25-Hydroxylation:

71
id Symbol AA change Variation ID SNP ID
1 CYP2R1 p.Leu99Pro VAR_021534 rs61495246

ClinVar genetic disease variations for Rickets Due to Defect in Vitamin D 25-Hydroxylation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP2R1 NM_024514.4(CYP2R1): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs61495246 GRCh37 Chromosome 11, 14907393: 14907393

Expression for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Search GEO for disease gene expression data for Rickets Due to Defect in Vitamin D 25-Hydroxylation.

Pathways for Rickets Due to Defect in Vitamin D 25-Hydroxylation

GO Terms for Rickets Due to Defect in Vitamin D 25-Hydroxylation

Sources for Rickets Due to Defect in Vitamin D 25-Hydroxylation

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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