ORPHA:99742
Amish lethal microcephaly
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
40
39.4th percentile
Trials
0
Interventional, condition-specific
Researchers
228
Distinct authors in sample
Gene link
SLC25A19
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A very rare syndrome characterized by extreme microcephaly and early death, within the first year.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011790
- MeSH:C538247
- OMIM:607196
- UMLS:C1846648
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — SLC25A19
- LiteraturePresent
40 matched papers (23 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 trialPartial
None under the specific name; 5 for broader category microcephaly
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 (SLC25A19).
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?
40
40 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
40 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).
23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)
Phrase hits: 40 · MeSH hits: 0
Who's working on it?
228
Distinct author names in 40 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.
- 01Dobyns WB3 papers · 2012Papers in Europe PMC
- 02De Leonardis F2 papers · 2020
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Papers in Europe PMC - 03Fang B2 papers · 2023
Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Papers in Europe PMC - 04Fang K2 papers · 2023
Pediatric Intensive Care Unit, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Papers in Europe PMC - 05Fiermonte G2 papers · 2020
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.
Papers in Europe PMC - 06
- 07Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 08Ni J2 papers · 2023
Pediatric Intensive Care Unit, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Papers in Europe PMC - 09Said HM2 papers · 2019
Departments of Medicine and Pysiology and Biophysics, University of California, Irvine, CA, 92697, USA.
Papers in Europe PMC - 10Abdelhalim H1 paper · 2024
Rutgers Institute for Health, Health Care Policy and Aging Research, Rutgers, The State University of New Jersey, 112 Paterson St, New Brunswick, NJ, 08901, USA.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 5 trials are registered for microcephaly, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
5 interventional trials matched microcephaly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: microcephaly
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05518188·RECRUITING·Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
Conditions: Spasticity, Muscle · Microcephaly · Intellectual Deficiency · Growth Retardation·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.
"Amish lethal microcephaly"
MeSH descriptor terms unioned into the query: Amish lethal microcephaly
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Amish lethal microcephaly" OR "SLC25A19"
Recall-expansion terms: SLC25A19
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"microcephaly"
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T06:14:57.876Z