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ORPHA:69076

Familial renal glucosuria

low confidenceDisorder

Also known as: Familial renal glycosuria · SGLT2 deficiency

Publications

3,298

Trials

0

Interventional, condition-specific

Researchers

989

Distinct authors in sample

Gene link

SLC5A2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

Renal Glycosuria · familial renal glucosuria

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC5A2

  2. LiteraturePresent

    3,298 matched papers (1,914 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Polydipsia; Polyphagia; Glycosuria) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SLC5A2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0009297

  • Polydipsia
  • Polyphagia
  • Glycosuria
  • Polyuria
  • Enuresis nocturna

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

11 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 5-aminoisoquinoline · therapeutic
  • 2-bromoethylamine · marker/mechanism
  • Cisplatin · marker/mechanism
  • Gentamicins · marker/mechanism
  • hexachlorobutadiene · marker/mechanism
  • Mercuric Chloride · marker/mechanism
  • Polymyxin B · marker/mechanism
  • propyleneimine · marker/mechanism
  • Rifampin · marker/mechanism
  • sodium chromate(VI) · marker/mechanism
  • Streptozocin · marker/mechanism

Pathways: Metabolism; Hexose transport; Transmembrane transport of small molecules; Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds; SLC-mediated transmembrane transport; Na+-dependent glucose transporters; Inositol transporters; Metabolism of carbohydrates

MyDisease.info · MONDO:0009297

Literature

Is anyone studying this?

3,298

3,298 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,298 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,914 in the last 10 years · low confidence

Phrase hits: 1,249 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

989

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Zhang H8 papers · 2024

    Department of Endocrinology, Zhaotong Hospital of Traditional Chinese Medicine, Zhaotong, Yunnan, China.

    Papers in Europe PMC
  2. 02
    Yu L6 papers · 2025

    Renal Division, Inner Mongolia People's Hospital, Hohhot, People's Republic of China.

    Papers in Europe PMC
  3. 03
    Hou P5 papers · 2020

    Renal Division, Peking University First Hospital, Peking University Institute of Nephrology, Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, 100034, China.

    Papers in Europe PMC
  4. 04
    Liu Y5 papers · 2026

    Department of Endocrinology, Zhaotong Hospital of Traditional Chinese Medicine, Zhaotong, Yunnan, China.

    Papers in Europe PMC
  5. 05
    Wang X5 papers · 2023

    Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430000, China. xiaowenwang331@163.com.

    Papers in Europe PMC
  6. 06
    Wang Y5 papers · 2026

    Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, China.

    Papers in Europe PMC
  7. 07
    Wright EM5 papers · 2021

    Physiology Department, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

    Papers in Europe PMC
  8. 08
    Calado J4 papers · 2023

    Department of Nephrology, ToxOmics, Centre for Toxicogenomics and Human Health, NOVA Medical School, New University of Lisbon, Lisbon, Portugal.

    Papers in Europe PMC
  9. 09
    Gao Y4 papers · 2026

    UCL Medical School, University College London, London, United Kingdom.

    Papers in Europe PMC
  10. 10
    Li X4 papers · 2024

    Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (9)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Familial renal glucosuria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Familial renal glucosuria" OR "Familial renal glycosuria" OR "SGLT2 deficiency" OR "Renal Glycosuria") OR (MESH:"Glycosuria, Renal") OR ("SLC5A2" OR "SLC5A2 syndrome" OR "SLC5A2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Glycosuria, Renal

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial renal glucosuria" OR "Familial renal glycosuria" OR "SGLT2 deficiency" OR "Renal Glycosuria" OR "Glycosuria, Renal"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3298) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:27:09.882Z