ORPHA:1114
Aplasia cutis congenita
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,561
92.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,016
Distinct authors in sample
Gene link
BMS1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007145
- OMIM:107600
- UMLS:C0282160
- NCIT:C98822
Additional Mondo synonyms (3)
aplasia cutis congenita · aplasia cutis congenita (disease) · aplasia cutis congenita recessive
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — BMS1
- LiteraturePresent
1,561 matched papers (731 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (BMS1).
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?
1,561
1,561 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.
1,561 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).
731 in the last 10 years · high confidence · 92.2th percentile (publications denominator)
Phrase hits: 1,561 · MeSH hits: 0
Who's working on it?
1,016
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.
- 01Zhang L4 papers · 2026
Department of Dermatology, No.1 Hospital of China Medical University, Shenyang, China.
Papers in Europe PMC - 02Abdulwahab AH2 papers · 2023
Department of Radiology, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 03Agyekum R2 papers · 2026
Department of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, Maryland, United States.
Papers in Europe PMC - 04Al Nefily RM2 papers · 2023
Department of Pediatrics, King Fahad Hospital of the University- Al-Khobar, Saudi Arabia.
Papers in Europe PMC - 05Al-Shammari AA2 papers · 2023
Department of Pediatrics, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 06AlAnazi RA2 papers · 2023
Department of Family and Community Medicine, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 07Ammar AS2 papers · 2023
Department of Neurosurgery, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 08Amrani R2 papers · 2025
Mother and Child Health Laboratory, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Oujda, MAR.
Papers in Europe PMC - 09Andani AD2 papers · 2026
Department of Neurosurgery, Greater Accra Regional Hospital, Accra, Ghana.
Papers in Europe PMC - 10Ayyad A2 papers · 2025
Department of Neonatology and Neonatal Resuscitation, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, MAR.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
1 observational study matches 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
- NCT01630421·RECRUITING·Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
Conditions: Aplasia Cutis Congenita·Matched via name phrase
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 2026-07-26This 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.
"Aplasia cutis congenita" OR "aplasia cutis congenita (disease)" OR "aplasia cutis congenita recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aplasia cutis congenita" OR "aplasia cutis congenita (disease)" OR "aplasia cutis congenita recessive" OR "BMS1"
Recall-expansion terms: BMS1
Study-type breakdown: 0 interventional · 1 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:24:05.559Z