ORPHA:79328
ALG9-CDG
Also known as: CDG syndrome type IL · CDG-IL · CDG1L · Carbohydrate deficient glycoprotein syndrome type IL · Congenital disorder of glycosylation type 1L · Mannosyltransferase 7-9 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,213
Trials
0
Interventional, condition-specific
Researchers
1,221
Distinct authors in sample
Gene link
ALG9
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of disorders of N-linked glycosylation characterized by microcephaly, , , drug-resistant , and . Additional features that may be observed include , pericardial effusion, renal cysts, skeletal , facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
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:0012117
- MeSH:C535750
- OMIM:608776
- UMLS:C2931006
Additional Mondo synonyms (4)
ALG9-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type 1L · congenital disorder of glycosylation type 1L · mannosyltransferase 7-9 deficiency
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 — ALG9
- LiteraturePresent
1,213 matched papers (783 in last 10 years) Source
- Phenotype characterisedPresent
168 HPO annotations (e.g. Posteriorly rotated ears; Pericardial effusion; Skeletal dysplasia) 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 (ALG9).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
168
Associated phenotypes · MONDO:0012117
- Posteriorly rotated ears
- Pericardial effusion
- Skeletal dysplasia
- Micrognathia
- Underdeveloped nasal alae
Showing 5 of 168 — 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?
1,213
1,213 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.
1,213 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).
783 in the last 10 years · low confidence
Phrase hits: 360 · MeSH hits: 0
Who's working on it?
1,221
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.
- 01Jaeken J12 papers · 2023
Department of Pediatrics, Center for Metabolic Diseases, University Hospitals Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 02Morava E9 papers · 2025
Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Papers in Europe PMC - 03Freeze HH7 papers · 2024
Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA. hudson@sanfordburnham.org
Papers in Europe PMC - 04Edmondson AC6 papers · 2025
Division of Human Genetics Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA.
Papers in Europe PMC - 05He M5 papers · 2024
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: hem@email.chop.edu.
Papers in Europe PMC - 06Jablonski SA5 papers · 2025
Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, USA.
Papers in Europe PMC - 07Tylki-Szymańska A5 papers · 2021
Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 08BALLANCE DAVID JAMES4 papers · 2009Papers in Europe PMC
- 09Goto-Koshino Y4 papers · 2023
Veterinary Medical Center, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-8657, Japan.
Papers in Europe PMC - 10Lam C4 papers · 2025
Department of Pediatrics, University of Washington and Seattle Children's Hospital, 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 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 ALG9-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.
("ALG9-CDG" OR "CDG syndrome type IL" OR "CDG-IL" OR "CDG1L" OR "Carbohydrate deficient glycoprotein syndrome type IL" OR "Congenital disorder of glycosylation type 1L" OR "Congenital disorder of the glycosylation type 1L" OR "Mannosyltransferase 7-9 deficiency" OR "ALG9-congenital disorder of glycosylation" OR "ALG9-congenital disorder of the glycosylation" OR "carbohydrate deficient glycoprotein syndrome type 1L") OR (MESH:"Congenital disorder of glycosylation type 1L") OR ("ALG9" OR "ALG9 syndrome" OR "ALG9-related")MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 1L
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALG9-CDG" OR "CDG syndrome type IL" OR "CDG-IL" OR "CDG1L" OR "Carbohydrate deficient glycoprotein syndrome type IL" OR "Congenital disorder of glycosylation type 1L" OR "Congenital disorder of the glycosylation type 1L" OR "Mannosyltransferase 7-9 deficiency" OR "ALG9-congenital disorder of glycosylation" OR "ALG9-congenital disorder of the glycosylation" OR "carbohydrate deficient glycoprotein syndrome type 1L"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (1213) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:18:21.432Z