ORPHA:370933
GM3 synthase deficiency
Also known as: ST3GAL5-CDG
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
236
75.5th percentile
Trials
1
Interventional, condition-specific
Researchers
1,158
Distinct authors in sample
Gene link
ST3GAL5
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
GM3 synthase deficiency is a rare disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, and early-onset refractory , followed by postnatal growth impairment, severe or developmental regression, profound , deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. facial features may be associated.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018274
- OMIM:609056
- UMLS:C1836824
Additional Mondo synonyms (9)
Amish infantile epilepsy syndrome · SPDRS · disorder of lactosylceramide alpha-2,3-sialyltransferase activity · epilepsy syndrome, infantile-onset symptomatic · infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness · infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome · lactosylceramide alpha-2,3-sialyltransferase activity disease · salt & pepper syndrome · salt and pepper developmental regression 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 — ST3GAL5
- LiteraturePresent
236 matched papers (164 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
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 (ST3GAL5).
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?
236
236 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.
236 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).
164 in the last 10 years · medium confidence · 75.5th percentile (publications denominator)
Phrase hits: 236 · MeSH hits: 0
Who's working on it?
1,158
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.
- 01Inokuchi JI9 papers · 2025
Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Papers in Europe PMC - 02Guerrini R8 papers · 2024
Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
Papers in Europe PMC - 03Inamori KI8 papers · 2025
Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
Papers in Europe PMC - 04
- 05Wang H8 papers · 2019
DDC Clinic, Center for Special Needs Children, Middlefield, OH 44062, USA.
Papers in Europe PMC - 06Furukawa K7 papers · 2023
Department of Biomedical Sciences, Chubu University College of Life and Health Sciences.
Papers in Europe PMC - 07Tiemeyer M7 papers · 2023
Complex Carbohydrate Research Center, University of Georgia, Athens, GA, Greece.
Papers in Europe PMC - 08Aoki K6 papers · 2023
Complex Carbohydrate Research Center, University of Georgia, Athens, GA, Greece.
Papers in Europe PMC - 09Xin B6 papers · 2019
DDC Clinic, Center for Special Needs Children, Middlefield, OH 44062, USA.
Papers in Europe PMC - 10Chen Y5 papers · 2026
Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, Shenyang, China.
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; none in our sample are currently recruiting.
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).
medium 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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"GM3 synthase deficiency" OR "ST3GAL5-CDG" OR "Amish infantile epilepsy syndrome" OR "SPDRS" OR "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" OR "disorder of the lactosylceramide alpha-2,3-sialyltransferase activity" OR "epilepsy syndrome, infantile-onset symptomatic" OR "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" OR "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" OR "lactosylceramide alpha-2,3-sialyltransferase activity disease" OR "salt & pepper syndrome" OR "salt and pepper developmental regression syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GM3 synthase deficiency" OR "ST3GAL5-CDG" OR "Amish infantile epilepsy syndrome" OR "SPDRS" OR "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" OR "disorder of the lactosylceramide alpha-2,3-sialyltransferase activity" OR "epilepsy syndrome, infantile-onset symptomatic" OR "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" OR "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" OR "lactosylceramide alpha-2,3-sialyltransferase activity disease" OR "salt & pepper syndrome" OR "salt and pepper developmental regression syndrome" OR "ST3GAL5"
Recall-expansion terms: ST3GAL5
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 · 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
- "Amish infantile epilepsy syndrome" also appears on ORPHA:171714
- "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" also appears on ORPHA:171714
Ingested 2026-07-27T14:58:27.428Z