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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
49
52.4th percentile
Trials
0
Interventional, condition-specific
Researchers
331
Distinct authors in sample
Gene link
SSR4
Strong
Readiness
2/6
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.”
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
Strong — SSR4
- LiteraturePresent
49 matched papers (47 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 (SSR4).
GenCC classification: Strong.
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?
49
49 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.
49 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).
47 in the last 10 years · medium confidence · 52.4th percentile (publications denominator)
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 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.
medium 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.
"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"
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" OR "SSR4"
Recall-expansion terms: SSR4
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:57:57.146Z