ORPHA:370933
GM3 synthase deficiency
Also known as: ST3GAL5-CDG
Publications
1,130
Trials
1
Interventional, condition-specific
Researchers
1,158
Distinct authors in sample
Gene link
ST3GAL5
Definitive
Readiness
4/6
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.”
4/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ST3GAL5
- LiteraturePresent
1,130 matched papers (845 in last 10 years) Source
- Phenotype characterisedPresent
23 HPO annotations (e.g. Microcephaly; Hypotonia; Cerebral visual impairment) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
23
Associated phenotypes · MONDO:0018274
- Microcephaly
- Hypotonia
- Cerebral visual impairment
- Feeding difficulties in infancy
- Visual loss
Showing 5 of 23 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
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?
1,130
1,130 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.
1,130 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).
845 in the last 10 years · low confidence
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 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th 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.
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 GM3 synthase deficiency — check Associations / patient organisations on that page.
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") OR ("ST3GAL5" OR "ST3GAL5 syndrome" OR "ST3GAL5-related" OR "GM3 syndrome" OR "GM3-related")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"
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: 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
- "Amish infantile epilepsy syndrome" also appears on ORPHA:171714
- "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" also appears on ORPHA:171714
- Publication count (1130) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T14:58:27.428Z