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
External Links
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 11 - 20 of 60 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0001538 Protuberant abdomen
HP:0001638 Cardiomyopathy
HP:0001744 Splenomegaly
HP:0001931 Hypochromic anemia
HP:0001974 Leukocytosis
HP:0002007 Frontal bossing
HP:0002148 Hypophosphatemia
HP:0002199 Hypocalcemic seizures
HP:0002240 Hepatomegaly
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: August 19, 2024