ORPHA:324422
ALG13-CDG
Also known as: CDG syndrome type Is · CDG-Is · CDG1S · Congenital disorder of glycosylation type 1s · Congenital disorder of glycosylation type Is
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7,124
Trials
0
Interventional, condition-specific
Researchers
1,265
Distinct authors in sample
Gene link
ALG13
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of disorders of N-linked glycosylation characterized by microcephaly, , edema of the extremities, intractable , recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
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:0010472
- OMIM:300884
- UMLS:C4317295
Additional Mondo synonyms (6)
DEE36 · EIEE36 · congenital disorder of glycosylation type 1s · congenital disorder of glycosylation type Is · developmental and epileptic encephalopathy 36 · epileptic encephalopathy, early infantile, 36
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 — ALG13
- LiteraturePresent
7,124 matched papers (4,762 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 (ALG13).
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?
7,124
7,124 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
7,124 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).
4,762 in the last 10 years · low confidence
Phrase hits: 7,124 · MeSH hits: 0
Who's working on it?
1,265
Distinct author names in 200 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 E27 papers · 2026
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, NY, USA.
Papers in Europe PMC - 02Kozicz T12 papers · 2026
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA. tamas.kozicz@mssm.edu.
Papers in Europe PMC - 03Edmondson AC10 papers · 2026
Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 04Shah R9 papers · 2026
Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 05Barone R8 papers · 2026
Child Neuropsychiatry- Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Papers in Europe PMC - 06Budhraja R8 papers · 2026
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 07Freeze HH8 papers · 2026
Human Genetics Program, Sanford Children's Health Research Center, La Jolla, CA, USA. Electronic address: hudson@sbpdiscovery.org.
Papers in Europe PMC - 08Pandey A8 papers · 2026
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 09He M7 papers · 2026
Michael Palmieri Metabolic and Advanced Diagnostic Laboratory and the Children's Hospital of Philadelphia, Philadelphia PA19104, USA. Electronic address: HeM@chop.edu.
Papers in Europe PMC - 10Lam C7 papers · 2026
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
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.
low 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.
"ALG13-CDG" OR "CDG syndrome type Is" OR "CDG-Is" OR "CDG1S" OR "Congenital disorder of glycosylation type 1s" OR "Congenital disorder of the glycosylation type 1s" OR "Congenital disorder of glycosylation type Is" OR "Congenital disorder of the glycosylation type Is" OR "DEE36" OR "EIEE36" OR "developmental and epileptic encephalopathy 36" OR "epileptic encephalopathy, early infantile, 36"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALG13-CDG" OR "CDG syndrome type Is" OR "CDG-Is" OR "CDG1S" OR "Congenital disorder of glycosylation type 1s" OR "Congenital disorder of the glycosylation type 1s" OR "Congenital disorder of glycosylation type Is" OR "Congenital disorder of the glycosylation type Is" OR "DEE36" OR "EIEE36" OR "developmental and epileptic encephalopathy 36" OR "epileptic encephalopathy, early infantile, 36" OR "ALG13"
Recall-expansion terms: ALG13
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
- Publication count (7124) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:36:32.546Z