Gene:
DHCR7
7-dehydrocholesterol reductase

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.


1. FDA Label for cholic acid and AKR1D1,AMACR,CYP27A1,CYP7A1,DHCR7,HSD3B7

Genetic testing required

Summary

The FDA-approved drug label for cholic acid (CHOLBAM) states that one of the indications of the drug is for bile acid synthesis disorders due to single enzyme defects. This includes deficiencies in the 3β-HSD (HSD3B7), AKR1D1 (AKR1D1), CYP27A1 (CYP27A1), AMACR (AMACR), and CYP7A1 (CYP7A1) enzymes.

Annotation

Cholic acid (CHOLBAM) is also indicated for the adjunctive treatment of peroxisomal disorders including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea or complications from decreased fat soluble vitamin absorption. Deficiency in the CYP27A1 enzyme is known as cerebrotendinous xanthomatosis (CTX). Excerpts from the cholic acid drug label:

CHOLBAM is a bile acid indicated for: Treatment of bile acid synthesis disorders due to single enzyme defects (SEDs)

Table 4: Response to CHOLBAM Treatment by Type of Single Enzyme Defect...Single Enzyme Defect...3β-HSD...AKR1D1...CTX...AMACR...CYP7A1...Smith-Lemli-Opitz...

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the cholic acid drug label.

*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • AKR1D1
    • efficacy, Indications & usage section, Adverse reactions section, Clinical studies section, Warnings and precautions section
    • source: U.S. Food and Drug Administration
  • AMACR
    • efficacy, Indications & usage section, Clinical studies section
    • source: U.S. Food and Drug Administration
  • CYP27A1
    • efficacy, Indications & usage section, Clinical studies section
    • source: U.S. Food and Drug Administration
  • CYP7A1
    • efficacy, Indications & usage section, Adverse reactions section, Clinical studies section, Warnings and precautions section
    • source: U.S. Food and Drug Administration
  • HSD3B7
    • efficacy, Indications & usage section, Adverse reactions section, Clinical studies section, Use in specific populations section, Warnings and precautions section
    • source: U.S. Food and Drug Administration

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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Overview

Alternate Names:  SLOS
Alternate Symbols:  None
PharmGKB Accession Id: PA27321

Details

Cytogenetic Location: chr11 : q13.4 - q13.4
GP mRNA Boundary: chr11 : 71145457 - 71159477
GP Gene Boundary: chr11 : 71142457 - 71169477
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
cholic acid
No related diseases are available

Publications related to DHCR7: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetics, Diet, and Season Are Associated with Serum 25-Hydroxycholecalciferol Concentration in a Yup'ik Study Population from Southwestern Alaska. The Journal of nutrition. 2015. Fohner Alison E, et al. PubMed

LinkOuts

NCBI Gene:
1717
OMIM:
270400
602858
UCSC Genome Browser:
NM_001360
RefSeq RNA:
NM_001163817
NM_001360
RefSeq Protein:
NP_001157289
NP_001351
RefSeq DNA:
NG_012655
NT_167190
UniProtKB:
DHCR7_HUMAN (Q9UBM7)
Ensembl:
ENSG00000172893
GenAtlas:
DHCR7
GeneCard:
DHCR7
MutDB:
DHCR7
ALFRED:
LO064002M
HuGE:
DHCR7
Comparative Toxicogenomics Database:
1717
ModBase:
Q9UBM7
HumanCyc Gene:
HS10588
HGNC:
2860

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