ORPHA:466794
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Also known as: Autosomal recessive spinocerebellar ataxia type 21 · SCAR21
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
48
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
363
Distinct authors in sample
Gene link
SCYL1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare axonal motor and sensory characterized by onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and ), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory with muscle weakness especially in the lower legs, and numbness. Mild was reported in some patients. MRI of the brain shows non- atrophy of the cerebellar vermis and thinning of the optic nerve.
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:0014744
- OMIM:616719
- UMLS:C5569084
Additional Mondo synonyms (4)
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome · autosomal recessive spinocerebellar ataxia type 21 · spinocerebellar ataxia, autosomal recessive 21 · spinocerebellar ataxia, autosomal recessive type 21
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
Definitive — SCYL1
- LiteraturePresent
48 matched papers (40 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 (SCYL1).
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?
48
48 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.
48 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 48 · MeSH hits: 0
Who's working on it?
363
Distinct author names in 48 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 H3 papers · 2022
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Papers in Europe PMC - 02Beaudin M2 papers · 2019
Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.
Papers in Europe PMC - 03Li Y2 papers · 2025
Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Papers in Europe PMC - 04Liu M2 papers · 2019
Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Papers in Europe PMC - 05
- 06Abdulwahab F1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 07Abou-Zeid AA1 paper · 2008Papers in Europe PMC
- 08Abouelhoda M1 paper · 2023
Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mabouelhoda@kfshrc.edu.sa.
Papers in Europe PMC - 09Abuyousef O1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 10Adamu Y1 paper · 2023
Department of Anesthesiology, College of Health Sciences and Medicine, Dilla University, Dilla, Ethiopia.
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).
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.
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.
"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" OR "Autosomal recessive spinocerebellar ataxia type 21" OR "SCAR21" OR "spinocerebellar ataxia, autosomal recessive 21" OR "spinocerebellar ataxia, autosomal recessive type 21"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" OR "Autosomal recessive spinocerebellar ataxia type 21" OR "SCAR21" OR "spinocerebellar ataxia, autosomal recessive 21" OR "spinocerebellar ataxia, autosomal recessive type 21" OR "SCYL1"
Recall-expansion terms: SCYL1
Study-type breakdown: 0 interventional · 0 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 2026-07-27T17:02:03.787Z