HSD17B13

Chr 4AD

hydroxysteroid 17-beta dehydrogenase 13

Also known as: FLDP, HMFN0376, NIIL497, SCDR9, SDR16C3

NCBI Gene: 345275 ENSG00000170509 UniProt: Q7Z5P4 OMIM: 612127

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Acts upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Fatty liver disease, protection from}MIM #620116

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.14LOEUF

pLI 0.000

Z-score 1.20

OE 0.65 (0.39–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.02Z-score

OE missense 1.00 (0.88–1.13)

166 obs / 166.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.39–1.14)

0≤0.351.4

Missense OE?1.00 (0.88–1.13)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 9 / 13.8Missense obs/exp: 166 / 166.8Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSD17B13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Metabolic Dysfunction-Associated SteatoHepatitis (MASH)

A Precision Medicine Approach Using Gene Silencing to Treat a Chronic Liver Disease Called Metabolic Dysfunction-Associated Steatohepatitis (MASH) in Adult Participants at Increased Genetic Risk for This Condition

RECRUITING

NCT05519475Phase PHASE2Regeneron PharmaceuticalsStarted 2023-02-09

ALN-HSDPlacebo

Metabolic Associated-dysfunction Steatotic Liver Disease (MASLD)

Time-restricted Feeding in MASLD

RECRUITING

NCT07530809Phase NAUniversität des SaarlandesStarted 2025-10-15

time-restricted feeding in a 5:2 regimen

Metabolic Dysfunction-Associated Steatotic Liver DiseasePediatric ObesityInsulin Resistance Syndrome

Non-Invasive Diagnostic Panel for MASLD in Children With Obesity

NOT YET RECRUITING

NCT07731360Kayseri City HospitalStarted 2026-07-01

Non-Invasive Multi-Parameter Diagnostic Panel

Metabolic Dysfunction-associated Liver Disease

Effect of Plant-based Diets on Liver Biomarkers, Cardiometabolic Health, and Exposure to Environmental Contaminants and Endocrine Disruptors in Patients With Metabolic Liver Disease.

NOT YET RECRUITING

NCT07503431Phase NAMiguel López MorenoStarted 2026-04-18

Traditional Mediterranean dietVegan Mediterranean diet

Alcoholic Liver Disease (ALD)Alcohol Use Disorder

Elastography-based Brief Alcohol Intervention in Hospitalized Individuals

NOT YET RECRUITING

NCT07637539Phase NAOslo University HospitalStarted 2026-08-15

Elastography-based brief alcohol intervention

NAFLDNASH - Nonalcoholic SteatohepatitisObesity, Morbid

The Franciscus Obesity NASH Study

ACTIVE NOT RECRUITING

NCT05499949Franciscus GasthuisStarted 2022-09-01