ORPHA:391376
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Also known as: Asparagine synthetase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
87
62.1th percentile
Trials
1
Interventional, condition-specific
Researchers
642
Distinct authors in sample
Gene link
ASNS
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurometabolic disorder characterized by severe, microcephaly, severe to profound global development delay, , (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
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:0014258
- OMIM:615574
- UMLS:C3809971
Additional Mondo synonyms (2)
asparagine synthetase deficiency · congenital microcephaly - severe encephalopathy - progressive cerebral atrophy 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ASNS
- LiteraturePresent
87 matched papers (78 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 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 (ASNS).
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?
87
87 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.
87 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).
78 in the last 10 years · high confidence · 62.1th percentile (publications denominator)
Phrase hits: 87 · MeSH hits: 0
Who's working on it?
642
Distinct author names in 87 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.
- 01Kilberg MS10 papers · 2023
Department of Biochemistry & Molecular Biology, University of Florida College of Medicine, 1200 Newell Drive, Florida, USA, 32608.
Papers in Europe PMC - 02Alfadhel M6 papers · 2020
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 03Staklinski SJ6 papers · 2023
Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Papers in Europe PMC - 04
- 05Wang X5 papers · 2024
Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
Papers in Europe PMC - 06Blau N4 papers · 2026
Division of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Papers in Europe PMC - 07Chang MC4 papers · 2023
Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Papers in Europe PMC - 08Eyaid W4 papers · 2020
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Merritt ME4 papers · 2023
Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, Florida, USA.
Papers in Europe PMC - 10Wang Y4 papers · 2024
The Second Affiliated Hospital, Dalian Medical University, Dalian, Liaoning, 116044, P.R. China. tcwyice@163.com.
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
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.
None of the matched observational studies is currently listed as recruiting.
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.
"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome" OR "Asparagine synthetase deficiency" OR "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome" OR "Asparagine synthetase deficiency" OR "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" OR "ASNS"
Recall-expansion terms: ASNS
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 · 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 2026-07-27T15:03:45.163Z