Details of Disease

General Information of Disease (ID: DISC3UAJ)

Disease Name Vitamin D-dependent rickets
Synonyms VDDR
Disease Hierarchy
DISH89YF: Rickets
DISC3UAJ: Vitamin D-dependent rickets
Disease Identifiers
MONDO ID
MONDO_0024299
UMLS CUI
C0221468
MedGen ID
526251
SNOMED CT ID
190640006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Cholecalciferol DMGU74E Approved Small molecular drug [1]
Ergocalciferol DMHO0AR Approved Small molecular drug [2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
VDR TTK59TV Strong Genetic Variation [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP27B1 DE3FYEM Strong Genetic Variation [4]
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References

1 Cholecalciferol FDA Label
2 Ergocalciferol FDA Label
3 CYP3A4 mutation causes vitamin D-dependent rickets type 3. J Clin Invest. 2018 May 1;128(5):1913-1918. doi: 10.1172/JCI98680. Epub 2018 Apr 3.
4 A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene.Horm Res Paediatr. 2017;87(1):58-63. doi: 10.1159/000446774. Epub 2016 Jun 11.