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ORPHA:35122

Congenital sucrase-isomaltase deficiency

medium confidenceDisorder

Also known as: CSID · Congenital sucrose intolerance · Disaccharide intolerance

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

987

89.4th percentile

Trials

6

Interventional, condition-specific

Researchers

1,027

Distinct authors in sample

Gene link

SI

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, .

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

congenital sucrase-isomaltase deficiency · congenital sucrose intolerance · disaccharide intolerance · genetic sucrase-isomaltose malabsorption · sucrase-isomaltase deficiency

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — SI

  2. LiteraturePresent

    987 matched papers (456 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov (2 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 (SI).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

987

987 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=5449) is 41.

987 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

456 in the last 10 years · medium confidence · 89.4th percentile (publications denominator)

Phrase hits: 987 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,027

Distinct author names in 200 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
    Naim HY23 papers · 2024

    Department of Biochemistry, University of Veterinary Medicine Hannover, Hannover, Germany.

    Papers in Europe PMC
  2. 02
    Ohlsson B13 papers · 2025

    Department of Internal Medicine, Lund University, Skåne University Hospital, 205 02 Malmö, Sweden. bodil.ohlsson@med.lu.se.

    Papers in Europe PMC
  3. 03
    Chumpitazi BP10 papers · 2025

    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  4. 04
    D'Amato M10 papers · 2024

    Gastrointestinal Genetics Laboratory, CIC bioGUNE-BRTA, 48160 Derio, Spain.

    Papers in Europe PMC
  5. 05
    Roth B10 papers · 2025

    Department of Internal Medicine, Lund University, Skåne University Hospital, 205 02 Malmö, Sweden.

    Papers in Europe PMC
  6. 06
    Hansen T8 papers · 2026

    The Novo Nordisk Foundation Center for Basic Metabolic Research, Mærsk Building, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.

    Papers in Europe PMC
  7. 07
    Jørgensen ME8 papers · 2026

    Centre for Public Health in Greenland, National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.

    Papers in Europe PMC
  8. 08
    Nichols BL8 papers · 2020

    Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine.

    Papers in Europe PMC
  9. 09
    Opekun AR8 papers · 2020

    Division of Gastroenterology and Hepatology, Department of Internal Medicine, Baylor College of Medicine, Houston, TX 77030, USA; Division of Gastroenterology, Nutrition and Hepatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  10. 10
    Husein DM6 papers · 2022

    Department of Biochemistry, University of Veterinary Medicine Hannover, Hannover, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

medium confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Congenital sucrase-isomaltase deficiency" OR "Congenital sucrose intolerance" OR "Disaccharide intolerance" OR "genetic sucrase-isomaltose malabsorption" OR "sucrase-isomaltase deficiency"

Run this search on Europe PMC

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

"Congenital sucrase-isomaltase deficiency" OR "Congenital sucrose intolerance" OR "Disaccharide intolerance" OR "genetic sucrase-isomaltose malabsorption" OR "sucrase-isomaltase deficiency" OR "SI"

Recall-expansion terms: SI

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: 6 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CSID

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T23:45:22.183Z