vitamin D-dependent rickets type 1A

Summary
Definition
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.
Super Class
autosomal recessive disease vitamin D-dependent rickets
Disease Ontology
DOID:0080886
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 60 in total
HPO ID HPO Term
HP:0002970 Genu varum
HP:0002980 Femoral bowing
HP:0002982 Tibial bowing
HP:0003020 Enlargement of the wrists
HP:0003029 Enlargement of the ankles
HP:0003106 Subperiosteal bone resorption
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0003165 Elevated circulating parathyroid hormone level
HP:0004322 Short stature
HP:0005042 Irregular, rachitic-like metaphyses
Displaying all 2 entries
Gene ID Gene Symbol Description
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024