ORPHA:280633
Multiple congenital anomalies-hypotonia-seizures syndrome
Also known as: Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
161
72.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,434
Distinct authors in sample
Gene link
PIGN
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies/ syndrome characterized by severe global , , and early-onset , associated with multiple anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.
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:0013563
- OMIM:614080
- UMLS:C3279775
- NCIT:C176896
Additional Mondo synonyms (6)
PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability · congenital disorder of glycosylation due to PIGN deficiency · inherited GPI anchor-deficiency · multiple congenital anomalies-hypotonia-seizures syndrome 1 · multiple congenital anomalies-hypotonia-seizures syndrome type 1 · multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN
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
Definitive — PIGN
- LiteraturePresent
161 matched papers (137 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 (PIGN).
GenCC classification: Definitive.
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?
161
161 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.
161 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).
137 in the last 10 years · high confidence · 72.1th percentile (publications denominator)
Phrase hits: 161 · MeSH hits: 0
Who's working on it?
1,434
Distinct author names in 161 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.
- 01Kinoshita T11 papers · 2023
Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan.
Papers in Europe PMC - 02Murakami Y11 papers · 2025
Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address: yoshiko@biken.osaka-u.ac.jp.
Papers in Europe PMC - 03Knaus A9 papers · 2023
Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany.
Papers in Europe PMC - 04Jezela-Stanek A8 papers · 2023
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: jezela@gmail.com.
Papers in Europe PMC - 05Morava E7 papers · 2025
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. Morava-Kozicz.Eva@MAYO.edu.
Papers in Europe PMC - 06Bayat A6 papers · 2023
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Papers in Europe PMC - 07Brodsky RA6 papers · 2017
Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.
Papers in Europe PMC - 08Krawitz PM6 papers · 2023
Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany. pkrawitz@uni-bonn.de.
Papers in Europe PMC - 09Ferreira CR5 papers · 2024
Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 10Jaeken J5 papers · 2023
CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal.
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.
high 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.
"Multiple congenital anomalies-hypotonia-seizures syndrome" OR "Congenital disorder of glycosylation due to PIGN deficiency" OR "Congenital disorder of the glycosylation due to PIGN deficiency" OR "PIGN-CDG" OR "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" OR "inherited GPI anchor-deficiency" OR "multiple congenital anomalies-hypotonia-seizures syndrome 1" OR "multiple congenital anomalies-hypotonia-seizures syndrome type 1" OR "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple congenital anomalies-hypotonia-seizures syndrome" OR "Congenital disorder of glycosylation due to PIGN deficiency" OR "Congenital disorder of the glycosylation due to PIGN deficiency" OR "PIGN-CDG" OR "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" OR "inherited GPI anchor-deficiency" OR "multiple congenital anomalies-hypotonia-seizures syndrome 1" OR "multiple congenital anomalies-hypotonia-seizures syndrome type 1" OR "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" OR "PIGN"
Recall-expansion terms: PIGN
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:55:51.246Z