MCID: VTM029
MIFTS: 24

Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Categories: Genetic diseases

Aliases & Classifications for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

MalaCards integrated aliases for Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

Name: Vitamin D Hydroxylation-Deficient Rickets, Type 1b 57 29 6 40 73
Rickets Due to Defect in Vitamin D 25-Hydroxylation 57 13
Vddr1b 57 75
Pseudovitamin D(3) Deficiency Rickets Due to 25-Hydroxylase Deficiency 75
Pseudovitamin D3 Deficiency Rickets Due to 25-Hydroxylase Deficiency 57
Selective 25-Hydroxyvitamin D(3) Deficiency 75
25-Hydroxyvitamin D3 Deficiency, Selective 57
25-Hydroxyvitamimn D3 Deficiency Selective 75
Vitamin D-Dependent Rickets, Type 1b 57
25-Hydroxyvitamin D(3) Deficiency 75
Rickets Vitamin D-Dependent 1b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
good response to vitamin d treatment


HPO:

32
vitamin d hydroxylation-deficient rickets, type 1b:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

UniProtKB/Swiss-Prot : 75 Rickets vitamin D-dependent 1B: An autosomal recessive 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 : Vitamin D Hydroxylation-Deficient Rickets, Type 1b, also known as rickets due to defect in vitamin d 25-hydroxylation, is related to vitamin d hydroxylation-deficient rickets, type 1a and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D Hydroxylation-Deficient Rickets, Type 1b is CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1). Affiliated tissues include bone and cortex, and related phenotypes are frontal bossing and muscular hypotonia

Description from OMIM: 600081

Related Diseases for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Diseases in the Vitamin D Hydroxylation-Deficient Rickets, Type 1b family:

Vitamin D Hydroxylation-Deficient Rickets, Type 1a

Diseases related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitamin d hydroxylation-deficient rickets, type 1a 11.5
2 rickets 11.0

Symptoms & Phenotypes for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Growth Other:
failure to thrive
growth retardation
poor growth

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

Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

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

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

Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Chest Ribs Sternum Clavicles And Scapulae:
deformed rib cage
enlargement and bulging of the costochondral junction


Clinical features from OMIM:

600081

Human phenotypes related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 muscular hypotonia 32 HP:0001252
3 muscle weakness 32 HP:0001324
4 failure to thrive 32 HP:0001508
5 hypophosphatemia 32 HP:0002148
6 rickets 32 HP:0002748
7 growth delay 32 HP:0001510
8 recurrent fractures 32 HP:0002757
9 flat occiput 32 HP:0005469
10 difficulty walking 32 HP:0002355
11 bone pain 32 HP:0002653
12 femoral bowing 32 HP:0002980
13 generalized hypotonia 32 HP:0001290
14 elevated alkaline phosphatase 32 HP:0003155
15 tibial bowing 32 HP:0002982
16 bowing of the legs 32 HP:0002979
17 widely patent fontanelles and sutures 32 HP:0004492
18 delayed epiphyseal ossification 32 HP:0002663
19 thin bony cortex 32 HP:0002753
20 fibular bowing 32 HP:0010502
21 sparse bone trabeculae 32 HP:0002752
22 bulging epiphyses 32 HP:0003013
23 enlargement of the wrists 32 HP:0003020
24 metaphyseal irregularity 32 HP:0003025
25 enlargement of the ankles 32 HP:0003029
26 difficulty standing 32 HP:0003698
27 enlargement of the costochondral junction 32 HP:0000920
28 deformed rib cage 32 HP:0000886
29 bulging of the costochondral junction 32 HP:0000893

UMLS symptoms related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:


muscle weakness, bone pain, difficulty standing

Drugs & Therapeutics for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Search Clinical Trials , NIH Clinical Center for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Genetic Tests for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Genetic tests related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

# Genetic test Affiliating Genes
1 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 29 CYP2R1

Anatomical Context for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

MalaCards organs/tissues related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

41
Bone, Cortex

Publications for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Articles related to Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

# Title Authors Year
1
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? ( 28548312 )
2017

Variations for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

UniProtKB/Swiss-Prot genetic disease variations for Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

75
# Symbol AA change Variation ID SNP ID
1 CYP2R1 p.Leu99Pro VAR_021534 rs61495246

ClinVar genetic disease variations for Vitamin D Hydroxylation-Deficient Rickets, Type 1b:

6
# 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
2 CYP2R1 NM_024514.4(CYP2R1): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs61495246 GRCh38 Chromosome 11, 14885847: 14885847

Expression for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Search GEO for disease gene expression data for Vitamin D Hydroxylation-Deficient Rickets, Type 1b.

Pathways for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

GO Terms for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

Sources for Vitamin D Hydroxylation-Deficient Rickets, Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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