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ORPHA:138

CHARGE syndrome

low confidenceDisorder

Also known as: CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome · Hall-Hittner syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.

Publications

3,684

Trials

—

Interventional, condition-specific

Researchers

1,309

Distinct authors in sample

Gene link

CDK9, CHD7, SEMA3E

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A multiple anomaly characterized by a broad with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's).

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 (3)

coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association · coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association · coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Definitive — CDK9, CHD7, SEMA3E

  2. LiteraturePresent

    3,684 matched papers (2,245 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 trialNot checked

    Trial fetch failed or incomplete

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 (CDK9, CHD7, SEMA3E).

GenCC classification: Definitive.

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?

3,684

3,684 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.

3,684 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).

2,245 in the last 10 years · low confidence

Phrase hits: 3,684 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,309

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
    Blake K8 papers · 2026

    Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada.

    Papers in Europe PMC
  2. 02
    Wang Y5 papers · 2026

    Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, China.

    Papers in Europe PMC
  3. 03
    Huang Z4 papers · 2025

    Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.

    Papers in Europe PMC
  4. 04
    van Ravenswaaij-Arts CM4 papers · 2019

    University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

    Papers in Europe PMC
  5. 05
    Wu J4 papers · 2026

    Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Yang Y4 papers · 2025

    Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  7. 07
    Zhang Y4 papers · 2024

    Department of Otolaryngology Head and Neck Surgery, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Barakat TS3 papers · 2026

    Department of Clinical Genetics, , ,

    Papers in Europe PMC
  9. 09
    Delanne J3 papers · 2026

    Centre de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, , ,

    Papers in Europe PMC
  10. 10
    Faivre L3 papers · 2026

    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, , ,

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 27 July 2026

low confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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.

"CHARGE syndrome" OR "CHARGE association" OR "Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" OR "Coloboma-heart defects-atresia choanae-retardation of the growth and development-genitourinary problems-ear abnormalities syndrome" OR "Hall-Hittner syndrome" OR "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" OR "coloboma, heart defects, choanal atresia, retardation of the Growth and development, genital abnormalities, and Ear anomalies association" OR "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" OR "coloboma, heart malformation, choanal atresia, retardation of the Growth and development, genital abnormalities, and Ear malformations (CHARGE) association"

Run this search on Europe PMC

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

(empty)

Recall-expansion terms: CDK9, CHD7, SEMA3E

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

Source errors: trials: Error: Failed after 5 retries: https://clinicaltrials.gov/api/v2/studies?query.cond=%22CHARGE%20syndrome%22%20OR%20%22CHARGE%20association%22%20OR%20%22Coloboma-heart%20defects-atresia%20choanae-retardation%20of%20growth%20and%20development-genitourinary%20problems-ear%20abnormalities%20syndrome%22%20OR%20%22Coloboma-heart%20defects-atresia%20choanae-retardation%20of%20the%20growth%20and%20development-genitourinary%20problems-ear%20abnormalities%20syndrome%22%20OR%20%22Hall-Hittner%20syndrome%22%20OR%20%22coloboma%2C%20heart%20defects%2C%20choanal%20atresia%2C%20retardation%20of%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20anomalies%20association%22%20OR%20%22coloboma%2C%20heart%20defects%2C%20choanal%20atresia%2C%20retardation%20of%20the%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20anomalies%20association%22%20OR%20%22coloboma%2C%20heart%20malformation%2C%20choanal%20atresia%2C%20retardation%20of%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20malformations%20(CHARGE)%20association%22%20OR%20%22coloboma%2C%20heart%20malformation%2C%20choanal%20atresia%2C%20retardation%20of%20the%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20malformations%20(CHARGE)%20association%22%20OR%20%22CDK9%22%20OR%20%22CHD7%22%20OR%20%22SEMA3E%22&format=json&pageSize=100&countTotal=true — Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22CHARGE%20syndrome%22%20OR%20%22CHARGE%20association%22%20OR%20%22Coloboma-heart%20defects-atresia%20choanae-retardation%20of%20growth%20and%20development-genitourinary%20problems-ear%20abnormalities%20syndrome%22%20OR%20%22Coloboma-heart%20defects-atresia%20choanae-retardation%20of%20the%20growth%20and%20development-genitourinary%20problems-ear%20abnormalities%20syndrome%22%20OR%20%22Hall-Hittner%20syndrome%22%20OR%20%22coloboma%2C%20heart%20defects%2C%20choanal%20atresia%2C%20retardation%20of%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20anomalies%20association%22%20OR%20%22coloboma%2C%20heart%20defects%2C%20choanal%20atresia%2C%20retardation%20of%20the%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20anomalies%20association%22%20OR%20%22coloboma%2C%20heart%20malformation%2C%20choanal%20atresia%2C%20retardation%20of%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20malformations%20(CHARGE)%20association%22%20OR%20%22coloboma%2C%20heart%20malformation%2C%20choanal%20atresia%2C%20retardation%20of%20the%20Growth%20and%20development%2C%20genital%20abnormalities%2C%20and%20Ear%20malformations%20(CHARGE)%20association%22%20OR%20%22CDK9%22%20OR%20%22CHD7%22%20OR%20%22SEMA3E%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3684) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:35:52.146Z