ORPHA:370927
SSR4-CDG
Also known as: CDG syndrome type Iy · CDG-Iy · CDG1Y · Carbohydrate deficient glycoprotein syndrome type Iy · Congenital disorder of glycosylation type 1y · Congenital disorder of glycosylation type Iy
Publications
675
Trials
0
Interventional, condition-specific
Researchers
331
Distinct authors in sample
Gene link
SSR4
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
SSR4-CDG is a form of disorders of N-linked glycosylation characterized by neurologic abnormalities (global in language, social skills and fine and gross motor development, , , microcephaly, /), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, , gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).
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:0010490
- OMIM:300934
- UMLS:C4012395
Additional Mondo synonyms (5)
SSR4-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type Iy · congenital disorder of glycosylation type 1y · congenital disorder of glycosylation type Iy · congenital disorder of glycosylation, type Iy, X-linked recessive
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
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
Strong — SSR4
- LiteraturePresent
675 matched papers (507 in last 10 years) Source
- Phenotype characterisedPresent
50 HPO annotations (e.g. Hypoplasia of the corpus callosum; Intellectual disability; Abnormality of upper lip vermillion) 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 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 (SSR4).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
50
Associated phenotypes · MONDO:0010490
- Hypoplasia of the corpus callosum
- Intellectual disability
- Abnormality of upper lip vermillion
- Horseshoe kidney
- Abnormality of the skeletal system
Showing 5 of 50 — 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?
675
675 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.
675 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).
507 in the last 10 years · low confidence
Phrase hits: 49 · MeSH hits: 0
Who's working on it?
331
Distinct author names in 49 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.
- 01Morava E8 papers · 2024
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. Morava-Kozicz.Eva@MAYO.edu.
Papers in Europe PMC - 02Freeze HH5 papers · 2024
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.
Papers in Europe PMC - 03Ng BG5 papers · 2024
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 04Jaeken J4 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 05Francisco R3 papers · 2023
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
Papers in Europe PMC - 06Sarafoglou K3 papers · 2024
Department of Pediatrics University of Minnesota Masonic Children's Hospital Minneapolis Minnesota USA.
Papers in Europe PMC - 07Abu Bakar N2 papers · 2025
Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 08Bamshad MJ2 papers · 2019
Department of Pediatrics, University of Washington, Seattle, Washington.
Papers in Europe PMC - 09Botzo G2 papers · 2024
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Papers in Europe PMC - 10Bruneel A2 papers · 2021
AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
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 SSR4-CDG — 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.
("SSR4-CDG" OR "CDG syndrome type Iy" OR "CDG-Iy" OR "CDG1Y" OR "Carbohydrate deficient glycoprotein syndrome type Iy" OR "Congenital disorder of glycosylation type 1y" OR "Congenital disorder of the glycosylation type 1y" OR "Congenital disorder of glycosylation type Iy" OR "Congenital disorder of the glycosylation type Iy" OR "SSR4-congenital disorder of glycosylation" OR "SSR4-congenital disorder of the glycosylation" OR "congenital disorder of glycosylation, type Iy, X-linked recessive" OR "congenital disorder of the glycosylation, type Iy, X-linked recessive") OR ("SSR4" OR "SSR4 syndrome" OR "SSR4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SSR4-CDG" OR "CDG syndrome type Iy" OR "CDG-Iy" OR "CDG1Y" OR "Carbohydrate deficient glycoprotein syndrome type Iy" OR "Congenital disorder of glycosylation type 1y" OR "Congenital disorder of the glycosylation type 1y" OR "Congenital disorder of glycosylation type Iy" OR "Congenital disorder of the glycosylation type Iy" OR "SSR4-congenital disorder of glycosylation" OR "SSR4-congenital disorder of the glycosylation" OR "congenital disorder of glycosylation, type Iy, X-linked recessive" OR "congenital disorder of the glycosylation, type Iy, X-linked recessive"
Study-type breakdown: 0 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (675) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:57:57.146Z