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ORPHA:1031

Enamel-renal syndrome

low confidenceDisorder

Also known as: Amelogenesis imperfecta-nephrocalcinosis syndrome

Publications

624

Trials

1

Interventional, condition-specific

Researchers

1,015

Distinct authors in sample

Gene link

FAM20A

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A extremely rare, genetic syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular , and rarely to end-stage renal failure.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

AI1G · AIGFS · ERS · FAM20A amelogenesis imperfecta · amelogenesis imperfecta and gingival fibromatosis syndrome · amelogenesis imperfecta caused by mutation in FAM20A · amelogenesis imperfecta, type IG (enamel-renal syndrome) · amelogenesis imperfecta-gingival hyperplasia syndrome · enamel-renal syndrome · enamel-renal-gingival syndrome · ers

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FAM20A

  2. LiteraturePresent

    624 matched papers (479 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Nephropathy; Gingival overgrowth; Yellow-brown discoloration of the teeth) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (FAM20A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0008771

  • Nephropathy
  • Gingival overgrowth
  • Yellow-brown discoloration of the teeth
  • Pulp calcification
  • Impaired renal concentrating ability

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

624

624 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.

624 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).

479 in the last 10 years · low confidence

Phrase hits: 159 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,015

Distinct author names in 159 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Berdal A12 papers · 2026

    Centre de Reference, Maladies Orales et Dentaires Rares, Hopital Rothschild, APHP, Paris, France.

    Papers in Europe PMC
  2. 02
    Simmer JP11 papers · 2024

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA. Electronic address: Jsimmer@umich.edu.

    Papers in Europe PMC
  3. 03
    Hu JC9 papers · 2024

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.

    Papers in Europe PMC
  4. 04
    Wang SK8 papers · 2024

    Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA.

    Papers in Europe PMC
  5. 05
    Kim JW7 papers · 2023

    Department of Molecular Genetics & DRI, School of Dentistry, Seoul National University, Seoul 03080, Korea.

    Papers in Europe PMC
  6. 06
    Seymen F7 papers · 2024

    Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey.

    Papers in Europe PMC
  7. 07
    Acevedo AC6 papers · 2026

    Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France.

    Papers in Europe PMC
  8. 08
    Bloch-Zupan A6 papers · 2025

    Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

    Papers in Europe PMC
  9. 09
    Chetty M6 papers · 2025

    Department of Craniofacial Biology, Pathology, and Radiology, Faculty of Dentistry, University of Western Cape, Cape Town, South Africa.

    Papers in Europe PMC
  10. 10
    Kabbashi S6 papers · 2025

    Department of Craniofacial Biology, Pathology, and Radiology, Faculty of Dentistry, University of Western Cape, Cape Town, South Africa. skabbashi@uwc.ac.za.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Enamel-renal syndrome — 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.

("Enamel-renal syndrome" OR "Amelogenesis imperfecta-nephrocalcinosis syndrome" OR "AIGFS" OR "FAM20A amelogenesis imperfecta" OR "amelogenesis imperfecta and gingival fibromatosis syndrome" OR "amelogenesis imperfecta caused by mutation in FAM20A" OR "amelogenesis imperfecta, type IG (enamel-renal syndrome)" OR "amelogenesis imperfecta-gingival hyperplasia syndrome" OR "enamel-renal-gingival syndrome") OR ("FAM20A" OR "FAM20A syndrome" OR "FAM20A-related")

Run this search on Europe PMC

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

"Enamel-renal syndrome" OR "Amelogenesis imperfecta-nephrocalcinosis syndrome" OR "AIGFS" OR "FAM20A amelogenesis imperfecta" OR "amelogenesis imperfecta and gingival fibromatosis syndrome" OR "amelogenesis imperfecta caused by mutation in FAM20A" OR "amelogenesis imperfecta, type IG (enamel-renal syndrome)" OR "amelogenesis imperfecta-gingival hyperplasia syndrome" OR "enamel-renal-gingival syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AI1G; ERS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • "amelogenesis imperfecta-gingival hyperplasia syndrome" also appears on ORPHA:171836
  • Publication count (624) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:14:42.777Z