ORPHA:404454
Alacrimia-choreoathetosis-liver dysfunction syndrome
Also known as: NGLY1 deficiency · NGLY1-CDDG
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
234
80.2th percentile
Trials
2
Interventional, condition-specific
Researchers
985
Distinct authors in sample
Gene link
NGLY1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, inborn error of metabolism disorder characterized by global , , choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, , peripheral , intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.
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:0800044
- OMIM:615273
- NCIT:C126746
Additional Mondo synonyms (6)
CDG1V · NGLY1 Deficiency · NGLY1-deficiency · NGLY1-related congenital disorder of deglycosylation · congenital disorder of deglycosylation 1 · congenital disorder of glycosylation type IV
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 — NGLY1
- LiteraturePresent
234 matched papers (221 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
2 matched on ClinicalTrials.gov
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 (NGLY1).
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?
234
234 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.
234 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).
221 in the last 10 years · medium confidence · 80.2th percentile (publications denominator)
Phrase hits: 234 · MeSH hits: 0
Who's working on it?
985
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.
- 01Suzuki T36 papers · 2026
Glycometabolome Team, RIKEN Global Research Cluster, Saitama, Japan.
Papers in Europe PMC - 02Fujihira H16 papers · 2026
Glycometabolome Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center, Global Research Cluster, RIKEN, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan.
Papers in Europe PMC - 03Hirayama H14 papers · 2025
Glycometabolome Biochemistry Laboratory, RIKEN Cluster for Pioneering Research, Saitama, Japan.
Papers in Europe PMC - 04Mueller WF14 papers · 2026
Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Papers in Europe PMC - 05Might M13 papers · 2025
Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, AL, USA.
Papers in Europe PMC - 06Asahina M10 papers · 2025
Takeda-CiRA Joint Program (T-CiRA), Kanagawa 2518555, Japan.
Papers in Europe PMC - 07Fujinawa R10 papers · 2025
Takeda-CiRA Joint Program (T-CiRA), Kanagawa 2518555, Japan.
Papers in Europe PMC - 08Chow CY8 papers · 2025
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Papers in Europe PMC - 09Morava E8 papers · 2026
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
2 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.
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.
"Alacrimia-choreoathetosis-liver dysfunction syndrome" OR "NGLY1 deficiency" OR "NGLY1-CDDG" OR "CDG1V" OR "NGLY1-deficiency" OR "NGLY1-related congenital disorder of deglycosylation" OR "NGLY1-related congenital disorder of the deglycosylation" OR "congenital disorder of deglycosylation 1" OR "congenital disorder of the deglycosylation 1" OR "congenital disorder of glycosylation type IV" OR "congenital disorder of the glycosylation type IV"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alacrimia-choreoathetosis-liver dysfunction syndrome" OR "NGLY1 deficiency" OR "NGLY1-CDDG" OR "CDG1V" OR "NGLY1-deficiency" OR "NGLY1-related congenital disorder of deglycosylation" OR "NGLY1-related congenital disorder of the deglycosylation" OR "congenital disorder of deglycosylation 1" OR "congenital disorder of the deglycosylation 1" OR "congenital disorder of glycosylation type IV" OR "congenital disorder of the glycosylation type IV" OR "NGLY1"
Recall-expansion terms: NGLY1
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: 2 interventional · 2 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
- Publication count (234) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T15:34:05.998Z