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ORPHA:404454

Alacrimia-choreoathetosis-liver dysfunction syndrome

low confidenceDisorder

Also known as: NGLY1 deficiency · NGLY1-CDDG

Publications

710

Trials

2

Interventional, condition-specific

Researchers

985

Distinct authors in sample

Gene link

NGLY1

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — NGLY1

  2. LiteraturePresent

    710 matched papers (611 in last 10 years) Source

  3. Phenotype characterisedPresent

    167 HPO annotations (e.g. Hypotriglyceridemia; Abnormal myelination; Decreased CSF protein concentration) Source

  4. Animal modelPresent

    1 genotype model (Rattus norvegicus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adeno-associated virus serotype 9 encoding human NGLY1 gene Source

  6. 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)

167

Associated phenotypes · MONDO:0800044

  • Hypotriglyceridemia
  • Abnormal myelination
  • Decreased CSF protein concentration
  • Optic atrophy
  • Bilateral ptosis

Showing 5 of 167 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA adeno-associated virus serotype 9 encoding human NGLY1 geneTreatment of NGLY1 deficiency · 20/08/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

710

710 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=3967) is 59.

710 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

611 in the last 10 years · low confidence

Phrase hits: 234 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Suzuki T36 papers · 2026

    Glycometabolome Team, RIKEN Global Research Cluster, Saitama, Japan.

    Papers in Europe PMC
  2. 02
    Fujihira 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
  3. 03
    Hirayama H14 papers · 2025

    Glycometabolome Biochemistry Laboratory, RIKEN Cluster for Pioneering Research, Saitama, Japan.

    Papers in Europe PMC
  4. 04
    Mueller WF14 papers · 2026

    Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Might M13 papers · 2025

    Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, AL, USA.

    Papers in Europe PMC
  6. 06
    Asahina M10 papers · 2025

    Takeda-CiRA Joint Program (T-CiRA), Kanagawa 2518555, Japan.

    Papers in Europe PMC
  7. 07
    Fujinawa R10 papers · 2025

    Takeda-CiRA Joint Program (T-CiRA), Kanagawa 2518555, Japan.

    Papers in Europe PMC
  8. 08
    Chow CY8 papers · 2025

    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

    Papers in Europe PMC
  9. 09
    Morava E8 papers · 2026

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  10. 10
    Wilsey M8 papers · 2026

    Grace Science, LLC - Menlo Park, CA, USA 94025.

    Papers in Europe PMC

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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Alacrimia-choreoathetosis-liver dysfunction syndrome — check Associations / patient organisations on that page.

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.

("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" OR "NGLY1 syndrome" OR "NGLY1-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (710) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:34:05.998Z